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Entry version 172 (13 Nov 2019)
Sequence version 2 (10 Oct 2018)
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Protein

Fanconi anemia group J protein

Gene

BRIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

[4Fe-4S] cluster1 PublicationNote: Binds 1 [4Fe-4S] cluster.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi283Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi298Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi310Iron-sulfur (4Fe-4S)By similarity1
Metal bindingi350Iron-sulfur (4Fe-4S)By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi185 – 192ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHelicase, Hydrolase
Biological processDNA damage, DNA repair
Ligand4Fe-4S, ATP-binding, Iron, Iron-sulfur, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.6.4.12 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69473 G2/M DNA damage checkpoint

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9BX63

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9BX63

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Fanconi anemia group J protein (EC:3.6.4.13)
Short name:
Protein FACJ
Alternative name(s):
ATP-dependent RNA helicase BRIP1
BRCA1-associated C-terminal helicase 1
BRCA1-interacting protein C-terminal helicase 1
Short name:
BRCA1-interacting protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BRIP1
Synonyms:BACH1, FANCJ
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20473 BRIP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605882 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9BX63

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Breast cancer (BC)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02089647P → A in BC; early onset; loss of ATPase and helicase activities. 2 PublicationsCorresponds to variant dbSNP:rs28903098EnsemblClinVar.1
Natural variantiVAR_020900299M → I in BC; early onset; reduces helicase efficiency on longer substrates. 2 PublicationsCorresponds to variant dbSNP:rs137852985EnsemblClinVar.1
Fanconi anemia complementation group J (FANCJ)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023700255Q → H in FANCJ. 1 Publication1
Natural variantiVAR_023702349A → P in FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity. 2 PublicationsCorresponds to variant dbSNP:rs149364097EnsemblClinVar.1
Natural variantiVAR_023703647W → C in FANCJ; associated with C-707. 1 PublicationCorresponds to variant dbSNP:rs786202760EnsemblClinVar.1
Natural variantiVAR_023704707R → C in FANCJ; associated with C-647. 1 PublicationCorresponds to variant dbSNP:rs764803896EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi52K → R: Disrupts BRCA1-mediated double-strand break repair. Loss of ATPase and DNA helicase activities. 3 Publications1
Mutagenesisi986S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi988S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi989T → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi990S → A: Disrupts the interaction with BRCA1. 1 Publication1
Mutagenesisi991P → A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1. 1 Publication1
Mutagenesisi992T → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi993F → A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1. 1 Publication1
Mutagenesisi997T → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1001S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1003S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1004S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1007S → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1011Y → A: Does not affect the interaction with BRCA1. 1 Publication1
Mutagenesisi1013T → A: Does not affect the interaction with BRCA1. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET

More...
DisGeNETi
83990

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
BRIP1

MalaCards human disease database

More...
MalaCardsi
BRIP1
MIMi114480 phenotype
609054 phenotype

Open Targets

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OpenTargetsi
ENSG00000136492

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
84 Fanconi anemia
145 Hereditary breast and ovarian cancer syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134906421

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9BX63

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
BRIP1

Domain mapping of disease mutations (DMDM)

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DMDMi
57012613

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000551731 – 1249Fanconi anemia group J proteinAdd BLAST1249

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei505PhosphoserineCombined sources1
Modified residuei927PhosphoserineCombined sources1
Modified residuei930PhosphoserineCombined sources1
Modified residuei956PhosphoserineCombined sources1
Modified residuei990PhosphoserineCombined sources1 Publication1
Modified residuei1004PhosphoserineCombined sources1
Modified residuei1032PhosphoserineCombined sources1
Modified residuei1237PhosphoserineCombined sources1
Modified residuei1249N6-acetyllysine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.1 Publication
Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-3220
CPTAC-3221
CPTAC-3222
CPTAC-3281
CPTAC-918

Encyclopedia of Proteome Dynamics

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EPDi
Q9BX63

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BX63

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BX63

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9BX63

PeptideAtlas

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PeptideAtlasi
Q9BX63

PRoteomics IDEntifications database

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PRIDEi
Q9BX63

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
79352 [Q9BX63-1]
79353 [Q9BX63-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BX63

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9BX63

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed, with highest levels in testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000136492 Expressed in 108 organ(s), highest expression level in lung

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BX63 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BX63 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA005474

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds directly to the BRCT domains of BRCA1 (PubMed:15125843).

Interacts with the CIA complex components CIAO1, CIAO2B and MMS19 (PubMed:23585563).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123841, 50 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9BX63

Database of interacting proteins

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DIPi
DIP-41787N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9BX63

Protein interaction database and analysis system

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IntActi
Q9BX63, 25 interactors

Molecular INTeraction database

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MINTi
Q9BX63

STRING: functional protein association networks

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STRINGi
9606.ENSP00000259008

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9BX63

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q9BX63

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini11 – 442Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST432

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni888 – 1063Interaction with BRCA11 PublicationAdd BLAST176

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi158 – 175Nuclear localization signalSequence analysisAdd BLAST18
Motifi393 – 396DEAH box4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

4Fe-4S iron-sulfur-binding is required for helicase activity.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1132 Eukaryota
COG1199 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182970

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000068083

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BX63

KEGG Orthology (KO)

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KOi
K15362

Identification of Orthologs from Complete Genome Data

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OMAi
CCSLINW

Database of Orthologous Groups

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OrthoDBi
186062at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BX63

TreeFam database of animal gene trees

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TreeFami
TF329449

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006555 ATP-dep_Helicase_C
IPR010614 DEAD_2
IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554 Helicase-like_DEXD_c2
IPR014001 Helicase_ATP-bd
IPR027417 P-loop_NTPase
IPR013020 Rad3/Chl1-like

Pfam protein domain database

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Pfami
View protein in Pfam
PF06733 DEAD_2, 1 hit
PF13307 Helicase_C_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00488 DEXDc2, 1 hit
SM00491 HELICc2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00604 rad3, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51193 HELICASE_ATP_BIND_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BX63-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS
60 70 80 90 100
GKSLALLCSA LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM
110 120 130 140 150
NQGTSRHFNY PSTPPSERNG TSSTCQDSPE KTTLAAKLSA KKQASIYRDE
160 170 180 190 200
NDDFQVEKKR IRPLETTQQI RKRHCFGTEV HNLDAKVDSG KTVKLNSPLE
210 220 230 240 250
KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK SKIPKIYFGT
260 270 280 290 300
RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
310 320 330 340 350
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC
360 370 380 390 400
PYYTARELIQ DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED
410 420 430 440 450
CARESASYSV TEVQLRFARD ELDSMVNNNI RKKDHEPLRA VCCSLINWLE
460 470 480 490 500
ANAEYLVERD YESACKIWSG NEMLLTLHKM GITTATFPIL QGHFSAVLQK
510 520 530 540 550
EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ NSRFADDYKI
560 570 580 590 600
AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
610 620 630 640 650
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT
660 670 680 690 700
IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL
710 720 730 740 750
LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG
760 770 780 790 800
EKDGALLVAV CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQVELKRQY
810 820 830 840 850
NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG ALILVDDRFR
860 870 880 890 900
NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
910 920 930 940 950
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK
960 970 980 990 1000
IITKNSPLPS SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV
1010 1020 1030 1040 1050
SWSSFNSLGQ YFTGKIPKAT PELGSSENSA SSPPRFKTEK MESKTVLPFT
1060 1070 1080 1090 1100
DKCESSNLTV NTSFGSCPQS ETIISSLKID ATLTRKNHSE HPLCSEEALD
1110 1120 1130 1140 1150
PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE DTDEEKNDLA
1160 1170 1180 1190 1200
ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
1210 1220 1230 1240
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK
Length:1,249
Mass (Da):140,867
Last modified:October 10, 2018 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8ED691F03A442BE1
GO
Isoform 2 (identifier: Q9BX63-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     969-994: NDPVFLEEAGKAEKIVISRSTSPTFN → SMKSSSHLPLIEKSFIIFSEMIFIWV
     995-1249: Missing.

Note: No experimental confirmation available.
Show »
Length:994
Mass (Da):112,466
Checksum:iA92FE302C66F1790
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QKX0J3QKX0_HUMAN
Fanconi anemia group J protein
BRIP1
180Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KS24J3KS24_HUMAN
Fanconi anemia group J protein
BRIP1
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QQP5J3QQP5_HUMAN
Fanconi anemia group J protein
BRIP1
84Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC11156 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti641I → V in BAC11156 (PubMed:14702039).Curated1
Sequence conflicti767E → I AA sequence (PubMed:11301010).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02089647P → A in BC; early onset; loss of ATPase and helicase activities. 2 PublicationsCorresponds to variant dbSNP:rs28903098EnsemblClinVar.1
Natural variantiVAR_020897173R → C2 PublicationsCorresponds to variant dbSNP:rs4988345EnsemblClinVar.1
Natural variantiVAR_020898193V → I2 PublicationsCorresponds to variant dbSNP:rs4988346EnsemblClinVar.1
Natural variantiVAR_020899195L → P1 PublicationCorresponds to variant dbSNP:rs4988347EnsemblClinVar.1
Natural variantiVAR_023700255Q → H in FANCJ. 1 Publication1
Natural variantiVAR_023701264R → W Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs28997569EnsemblClinVar.1
Natural variantiVAR_020900299M → I in BC; early onset; reduces helicase efficiency on longer substrates. 2 PublicationsCorresponds to variant dbSNP:rs137852985EnsemblClinVar.1
Natural variantiVAR_023702349A → P in FANCJ; destabilizes iron-sulfur-binding and abolishes helicase activity. 2 PublicationsCorresponds to variant dbSNP:rs149364097EnsemblClinVar.1
Natural variantiVAR_020901419R → W1 PublicationCorresponds to variant dbSNP:rs150624408EnsemblClinVar.1
Natural variantiVAR_020902531F → V1 PublicationCorresponds to variant dbSNP:rs4988350EnsemblClinVar.1
Natural variantiVAR_020903540Q → L1 PublicationCorresponds to variant dbSNP:rs4988349EnsemblClinVar.1
Natural variantiVAR_052192633I → M. Corresponds to variant dbSNP:rs28997572EnsemblClinVar.1
Natural variantiVAR_023703647W → C in FANCJ; associated with C-707. 1 PublicationCorresponds to variant dbSNP:rs786202760EnsemblClinVar.1
Natural variantiVAR_023704707R → C in FANCJ; associated with C-647. 1 PublicationCorresponds to variant dbSNP:rs764803896EnsemblClinVar.1
Natural variantiVAR_020904832C → Y1 PublicationCorresponds to variant dbSNP:rs4988355Ensembl.1
Natural variantiVAR_020905919S → P7 PublicationsCorresponds to variant dbSNP:rs4986764EnsemblClinVar.1
Natural variantiVAR_020906935V → G1 PublicationCorresponds to variant dbSNP:rs4988356EnsemblClinVar.1
Natural variantiVAR_0209071034P → L in a patient with ovarian cancer; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1199923024Ensembl.1
Natural variantiVAR_0521931148D → E. Corresponds to variant dbSNP:rs28997573EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_012540969 – 994NDPVF…SPTFN → SMKSSSHLPLIEKSFIIFSE MIFIWV in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_012541995 – 1249Missing in isoform 2. 1 PublicationAdd BLAST255

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF360549 mRNA Translation: AAK38111.1
AC002994 Genomic DNA No translation available.
AC005969 Genomic DNA No translation available.
AC060798 Genomic DNA No translation available.
CH471179 Genomic DNA Translation: EAW51430.1
CH471179 Genomic DNA Translation: EAW51432.1
CH471179 Genomic DNA Translation: EAW51431.1
CH471179 Genomic DNA Translation: EAW51433.1
BC101472 mRNA Translation: AAI01473.1
BC101474 mRNA Translation: AAI01475.1
AK074713 mRNA Translation: BAC11156.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11631.1 [Q9BX63-1]

NCBI Reference Sequences

More...
RefSeqi
NP_114432.2, NM_032043.2 [Q9BX63-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000259008; ENSP00000259008; ENSG00000136492 [Q9BX63-1]
ENST00000577598; ENSP00000464654; ENSG00000136492 [Q9BX63-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
83990

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:83990

UCSC genome browser

More...
UCSCi
uc002izk.3 human [Q9BX63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF360549 mRNA Translation: AAK38111.1
AC002994 Genomic DNA No translation available.
AC005969 Genomic DNA No translation available.
AC060798 Genomic DNA No translation available.
CH471179 Genomic DNA Translation: EAW51430.1
CH471179 Genomic DNA Translation: EAW51432.1
CH471179 Genomic DNA Translation: EAW51431.1
CH471179 Genomic DNA Translation: EAW51433.1
BC101472 mRNA Translation: AAI01473.1
BC101474 mRNA Translation: AAI01475.1
AK074713 mRNA Translation: BAC11156.1 Different initiation.
CCDSiCCDS11631.1 [Q9BX63-1]
RefSeqiNP_114432.2, NM_032043.2 [Q9BX63-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T15X-ray1.85B988-995[»]
1T29X-ray2.30B985-998[»]
3AL3X-ray2.15B1129-1138[»]
SMRiQ9BX63
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi123841, 50 interactors
CORUMiQ9BX63
DIPiDIP-41787N
ELMiQ9BX63
IntActiQ9BX63, 25 interactors
MINTiQ9BX63
STRINGi9606.ENSP00000259008

PTM databases

iPTMnetiQ9BX63
PhosphoSitePlusiQ9BX63

Polymorphism and mutation databases

BioMutaiBRIP1
DMDMi57012613

Proteomic databases

CPTACiCPTAC-3220
CPTAC-3221
CPTAC-3222
CPTAC-3281
CPTAC-918
EPDiQ9BX63
jPOSTiQ9BX63
MassIVEiQ9BX63
PaxDbiQ9BX63
PeptideAtlasiQ9BX63
PRIDEiQ9BX63
ProteomicsDBi79352 [Q9BX63-1]
79353 [Q9BX63-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
83990

Genome annotation databases

EnsembliENST00000259008; ENSP00000259008; ENSG00000136492 [Q9BX63-1]
ENST00000577598; ENSP00000464654; ENSG00000136492 [Q9BX63-2]
GeneIDi83990
KEGGihsa:83990
UCSCiuc002izk.3 human [Q9BX63-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
83990
DisGeNETi83990

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BRIP1
GeneReviewsiBRIP1
HGNCiHGNC:20473 BRIP1
HPAiHPA005474
MalaCardsiBRIP1
MIMi114480 phenotype
605882 gene
609054 phenotype
neXtProtiNX_Q9BX63
OpenTargetsiENSG00000136492
Orphaneti84 Fanconi anemia
145 Hereditary breast and ovarian cancer syndrome
PharmGKBiPA134906421

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1132 Eukaryota
COG1199 LUCA
GeneTreeiENSGT00950000182970
HOGENOMiHOG000068083
InParanoidiQ9BX63
KOiK15362
OMAiCCSLINW
OrthoDBi186062at2759
PhylomeDBiQ9BX63
TreeFamiTF329449

Enzyme and pathway databases

BRENDAi3.6.4.12 2681
ReactomeiR-HSA-2564830 Cytosolic iron-sulfur cluster assembly
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69473 G2/M DNA damage checkpoint
SignaLinkiQ9BX63
SIGNORiQ9BX63

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
BRIP1 human
EvolutionaryTraceiQ9BX63

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BRIP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
83990
PharosiQ9BX63

Protein Ontology

More...
PROi
PR:Q9BX63

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136492 Expressed in 108 organ(s), highest expression level in lung
ExpressionAtlasiQ9BX63 baseline and differential
GenevisibleiQ9BX63 HS

Family and domain databases

InterProiView protein in InterPro
IPR006555 ATP-dep_Helicase_C
IPR010614 DEAD_2
IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554 Helicase-like_DEXD_c2
IPR014001 Helicase_ATP-bd
IPR027417 P-loop_NTPase
IPR013020 Rad3/Chl1-like
PfamiView protein in Pfam
PF06733 DEAD_2, 1 hit
PF13307 Helicase_C_2, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00488 DEXDc2, 1 hit
SM00491 HELICc2, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
TIGRFAMsiTIGR00604 rad3, 1 hit
PROSITEiView protein in PROSITE
PS51193 HELICASE_ATP_BIND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFANCJ_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BX63
Secondary accession number(s): A0A024QZ45, Q3MJE2, Q8NCI5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: October 10, 2018
Last modified: November 13, 2019
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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