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Entry version 139 (31 Jul 2019)
Sequence version 2 (18 May 2010)
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Protein

Protein fantom

Gene

RPGRIP1L

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

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity).By similarity1 Publication

<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

  • thromboxane A2 receptor binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

SIGNOR Signaling Network Open Resource

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SIGNORi
Q68CZ1

<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:
Protein fantom
Alternative name(s):
Nephrocystin-8
RPGR-interacting protein 1-like protein
Short name:
RPGRIP1-like protein
<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:RPGRIP1L
Synonyms:FTM, KIAA1005, NPHP8
<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 16

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:29168 RPGRIP1L

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610937 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q68CZ1

<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

<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>Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Tight junction

<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

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome.2 Publications
Joubert syndrome 7 (JBTS7)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
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_076824393E → K in JBTS7. 1 PublicationCorresponds to variant dbSNP:rs375776718Ensembl.1
Natural variantiVAR_069234550Q → R in JBTS7. 1 PublicationCorresponds to variant dbSNP:rs772900011Ensembl.1
Natural variantiVAR_039393615T → P in JBTS7; affects interaction with NPHP4. 3 PublicationsCorresponds to variant dbSNP:rs121918198EnsemblClinVar.1
Natural variantiVAR_076825633C → R in JBTS7. 1 PublicationCorresponds to variant dbSNP:rs898062661Ensembl.1
Natural variantiVAR_039394677T → I in JBTS7; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. 2 PublicationsCorresponds to variant dbSNP:rs532768944EnsemblClinVar.1
Natural variantiVAR_039395695A → P in JBTS7; seems not to affect interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs121918200EnsemblClinVar.1
Meckel syndrome 5 (MKS5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0664821236R → C in MKS5. 1 PublicationCorresponds to variant dbSNP:rs151332923Ensembl.1
COACH syndrome (COACHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063805659S → P in COACHS. 1 PublicationCorresponds to variant dbSNP:rs267607020EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
23322

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

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GeneReviewsi
RPGRIP1L

MalaCards human disease database

More...
MalaCardsi
RPGRIP1L
MIMi216360 phenotype
611560 phenotype
611561 phenotype

Open Targets

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OpenTargetsi
ENSG00000103494

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

More...
Orphaneti
1454 Joubert syndrome with hepatic defect
220497 Joubert syndrome with renal defect
564 Meckel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162401983

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RPGRIP1L

Domain mapping of disease mutations (DMDM)

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DMDMi
296434514

<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_00002912671 – 1315Protein fantomAdd BLAST1315

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q68CZ1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q68CZ1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q68CZ1

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

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PaxDbi
Q68CZ1

PeptideAtlas

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PeptideAtlasi
Q68CZ1

PRoteomics IDEntifications database

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PRIDEi
Q68CZ1

ProteomicsDB human proteome resource

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ProteomicsDBi
66034 [Q68CZ1-1]
66035 [Q68CZ1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q68CZ1

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

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PhosphoSitePlusi
Q68CZ1

<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 relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney.4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000103494 Expressed in 147 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q68CZ1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q68CZ1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039405
HPA040530

<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

Interacts with NPHP4 and NPHP1; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L.

Interacts with IQCB1; the interaction likely requires additional interactors (By similarity).

Interacts with TBXA2R (via C-terminus).

Interacts with RPGR.

Interacts with NEK4.

Interacts with NPHP4, INVS and DVL2; the complex is proposed to be involved in DVL2 stabilization.

By similarity4 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

WithEntry#Exp.IntActNotes
NPHP4O751618EBI-9356215,EBI-4281852

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116911, 167 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q68CZ1

Protein interaction database and analysis system

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IntActi
Q68CZ1, 154 interactors

Molecular INTeraction database

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MINTi
Q68CZ1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000369257

<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

Secondary structure

11315
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q68CZ1

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q68CZ1

<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>Domaini615 – 712C2 1PROSITE-ProRule annotationAdd BLAST98
Domaini777 – 881C2 2PROSITE-ProRule annotationAdd BLAST105

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili64 – 144Sequence analysisAdd BLAST81
Coiled coili197 – 256Sequence analysisAdd BLAST60
Coiled coili326 – 555Sequence analysisAdd BLAST230

<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

Belongs to the RPGRIP1 family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IGZN Eukaryota
ENOG410YNUX LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00520000055620

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000168391

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q68CZ1

KEGG Orthology (KO)

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KOi
K16550

Identification of Orthologs from Complete Genome Data

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OMAi
QTPYNYV

Database of Orthologous Groups

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OrthoDBi
152378at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q68CZ1

TreeFam database of animal gene trees

More...
TreeFami
TF328883

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.150, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR021656 C2-C2_1
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR041091 RPGRIP1_C
IPR031139 RPGRIP1_fam
IPR031136 RPGRIP1L

The PANTHER Classification System

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PANTHERi
PTHR14240 PTHR14240, 1 hit
PTHR14240:SF4 PTHR14240:SF4, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00168 C2, 1 hit
PF11618 C2-C2_1, 1 hit
PF18111 RPGR1_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00239 C2, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50004 C2, 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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q68CZ1-1) [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.

« Hide
        10         20         30         40         50
MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL
60 70 80 90 100
EDRFLRLHDE NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK
110 120 130 140 150
RLGRDVEMEE MIEQLQEKVH ELEKQNETLK NRLISAKQQL QTQGYRQTPY
160 170 180 190 200
NNVQSRINTG RRKANENAGL QECPRKGIKF QDADVAETPH PMFTKYGNSL
210 220 230 240 250
LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE NEIELSLLQL
260 270 280 290 300
REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR
310 320 330 340 350
ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND
360 370 380 390 400
LEKERELLKE NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL
410 420 430 440 450
TDKTEILDRL KTERDQNEKL VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ
460 470 480 490 500
ENDINADELS EALLLIKAQK EQKNGDLSFL VKVDSEINKD LERSMRELQA
510 520 530 540 550
THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL QQDYELKVEQ
560 570 580 590 600
YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL
610 620 630 640 650
ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG
660 670 680 690 700
LHPEYNFTSQ YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF
710 720 730 740 750
HEILEKSGRI FCTASLIGTK GDIPNFGTVE YWFRLRVPMD QAIRLYRERA
760 770 780 790 800
KALGYITSNF KGPEHMQSLS QQAPKTAQLS STDSTDGNLN ELHITIRCCN
810 820 830 840 850
HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD HMYFPVPMNM
860 870 880 890 900
DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT
910 920 930 940 950
DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA
960 970 980 990 1000
SSVSTLVLAP RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP
1010 1020 1030 1040 1050
EVEHIPEIEI NMLTVPHVPK VSQEGSVDEV KENTEKMQQG KDDVSLLSEG
1060 1070 1080 1090 1100
QLAEQSLASS EDETEITEDL EPEVEEDMSA SDSDDCIIPG PISKNIKQSL
1110 1120 1130 1140 1150
ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC HHTQPSEKIR
1160 1170 1180 1190 1200
IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY
1210 1220 1230 1240 1250
YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL
1260 1270 1280 1290 1300
ECEDIGVAHV DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH
1310
ALQSVYKQYR DDLEA
Length:1,315
Mass (Da):151,201
Last modified:May 18, 2010 - 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:i694B83C6A109E50A
GO
Isoform 2 (identifier: Q68CZ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     987-1020: Missing.
     1099-1144: Missing.

Note: No experimental confirmation available.
Show »
Length:1,235
Mass (Da):142,792
Checksum:iF487798A39A0F038
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BV03H3BV03_HUMAN
Protein fantom
RPGRIP1L
1,281Annotation score:

Annotation score:2 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>
A0A087WX34A0A087WX34_HUMAN
Protein fantom
RPGRIP1L
1,269Annotation score:

Annotation score:2 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>
H3BS47H3BS47_HUMAN
Protein fantom
RPGRIP1L
1,253Annotation score:

Annotation score:2 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>
H3BPF5H3BPF5_HUMAN
Protein fantom
RPGRIP1L
354Annotation score:

Annotation score:2 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>
I3L2P2I3L2P2_HUMAN
Protein fantom
RPGRIP1L
122Annotation 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>
J3QLR9J3QLR9_HUMAN
Protein fantom
RPGRIP1L
56Annotation 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>
I3L1B5I3L1B5_HUMAN
Protein fantom
RPGRIP1L
78Annotation 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>
H3BPS4H3BPS4_HUMAN
Protein fantom
RPGRIP1L
125Annotation 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>

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 conflicti300R → K in BAA76849 (PubMed:10231032).Curated1
Sequence conflicti575G → D in CAH18439 (PubMed:17974005).Curated1
Sequence conflicti595D → G in CAH18439 (PubMed:17974005).Curated1
Sequence conflicti992P → L in CAH18439 (PubMed:17974005).Curated1
Sequence conflicti1143T → S in CAH18439 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066476199S → G Found in a patient with Leber congenital amaurosis. 1 Publication1
Natural variantiVAR_066477229A → T Polymorphism; associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes; found in patients with Leber congenital amaurosis, Senior-Loken syndrome, Joubert syndrome and Bardet-Biedl syndrome; abrogates interaction with RPGR. 1 PublicationCorresponds to variant dbSNP:rs61747071EnsemblClinVar.1
Natural variantiVAR_076824393E → K in JBTS7. 1 PublicationCorresponds to variant dbSNP:rs375776718Ensembl.1
Natural variantiVAR_066478447L → S1 PublicationCorresponds to variant dbSNP:rs138155747EnsemblClinVar.1
Natural variantiVAR_066479546L → F Found in a patient with Leber congenital amaurosis. 1 PublicationCorresponds to variant dbSNP:rs147331527Ensembl.1
Natural variantiVAR_069234550Q → R in JBTS7. 1 PublicationCorresponds to variant dbSNP:rs772900011Ensembl.1
Natural variantiVAR_039393615T → P in JBTS7; affects interaction with NPHP4. 3 PublicationsCorresponds to variant dbSNP:rs121918198EnsemblClinVar.1
Natural variantiVAR_076825633C → R in JBTS7. 1 PublicationCorresponds to variant dbSNP:rs898062661Ensembl.1
Natural variantiVAR_066480647V → I1 PublicationCorresponds to variant dbSNP:rs145572901Ensembl.1
Natural variantiVAR_063805659S → P in COACHS. 1 PublicationCorresponds to variant dbSNP:rs267607020EnsemblClinVar.1
Natural variantiVAR_039394677T → I in JBTS7; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. 2 PublicationsCorresponds to variant dbSNP:rs532768944EnsemblClinVar.1
Natural variantiVAR_039395695A → P in JBTS7; seems not to affect interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs121918200EnsemblClinVar.1
Natural variantiVAR_039396744R → Q. Corresponds to variant dbSNP:rs2302677EnsemblClinVar.1
Natural variantiVAR_066481937R → L in a patient with Leber congenital amaurosis. 1 PublicationCorresponds to variant dbSNP:rs776795273Ensembl.1
Natural variantiVAR_0393971025G → S1 PublicationCorresponds to variant dbSNP:rs2111119EnsemblClinVar.1
Natural variantiVAR_0655561183A → G in a patient with Meckel-Gruber like syndrome also carrying L-220 and V-280 in TTC21B; also found in patients with Leber congenital amaurosis and a patient with Bardet-Biedl syndrome. 2 PublicationsCorresponds to variant dbSNP:rs139974543EnsemblClinVar.1
Natural variantiVAR_0664821236R → C in MKS5. 1 PublicationCorresponds to variant dbSNP:rs151332923Ensembl.1
Natural variantiVAR_0393981264D → N1 PublicationCorresponds to variant dbSNP:rs3213758EnsemblClinVar.1
Natural variantiVAR_0664831264D → Y in patients with Leber congenital amaurosis. 1 Publication1

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_026161987 – 1020Missing in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_0261621099 – 1144Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
CR749645 mRNA Translation: CAH18439.1
AC007497 Genomic DNA No translation available.
AC007909 Genomic DNA No translation available.
AC084795 Genomic DNA No translation available.
BC017977 mRNA Translation: AAH17977.1 Different termination.
AB023222 mRNA Translation: BAA76849.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS32447.1 [Q68CZ1-1]
CCDS45486.1 [Q68CZ1-2]

NCBI Reference Sequences

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RefSeqi
NP_001121369.1, NM_001127897.3 [Q68CZ1-2]
NP_056087.2, NM_015272.4 [Q68CZ1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262135; ENSP00000262135; ENSG00000103494 [Q68CZ1-2]
ENST00000647211; ENSP00000493946; ENSG00000103494 [Q68CZ1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23322

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23322

UCSC genome browser

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UCSCi
uc002eho.5 human [Q68CZ1-1]

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

RPGRIP1-like (RPGRIP1L)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749645 mRNA Translation: CAH18439.1
AC007497 Genomic DNA No translation available.
AC007909 Genomic DNA No translation available.
AC084795 Genomic DNA No translation available.
BC017977 mRNA Translation: AAH17977.1 Different termination.
AB023222 mRNA Translation: BAA76849.1
CCDSiCCDS32447.1 [Q68CZ1-1]
CCDS45486.1 [Q68CZ1-2]
RefSeqiNP_001121369.1, NM_001127897.3 [Q68CZ1-2]
NP_056087.2, NM_015272.4 [Q68CZ1-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YRBNMR-A595-737[»]
SMRiQ68CZ1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116911, 167 interactors
CORUMiQ68CZ1
IntActiQ68CZ1, 154 interactors
MINTiQ68CZ1
STRINGi9606.ENSP00000369257

PTM databases

iPTMnetiQ68CZ1
PhosphoSitePlusiQ68CZ1

Polymorphism and mutation databases

BioMutaiRPGRIP1L
DMDMi296434514

Proteomic databases

EPDiQ68CZ1
jPOSTiQ68CZ1
MaxQBiQ68CZ1
PaxDbiQ68CZ1
PeptideAtlasiQ68CZ1
PRIDEiQ68CZ1
ProteomicsDBi66034 [Q68CZ1-1]
66035 [Q68CZ1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262135; ENSP00000262135; ENSG00000103494 [Q68CZ1-2]
ENST00000647211; ENSP00000493946; ENSG00000103494 [Q68CZ1-1]
GeneIDi23322
KEGGihsa:23322
UCSCiuc002eho.5 human [Q68CZ1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23322
DisGeNETi23322

GeneCards: human genes, protein and diseases

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GeneCardsi
RPGRIP1L
GeneReviewsiRPGRIP1L
HGNCiHGNC:29168 RPGRIP1L
HPAiHPA039405
HPA040530
MalaCardsiRPGRIP1L
MIMi216360 phenotype
610937 gene
611560 phenotype
611561 phenotype
neXtProtiNX_Q68CZ1
OpenTargetsiENSG00000103494
Orphaneti1454 Joubert syndrome with hepatic defect
220497 Joubert syndrome with renal defect
564 Meckel syndrome
PharmGKBiPA162401983

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGZN Eukaryota
ENOG410YNUX LUCA
GeneTreeiENSGT00520000055620
HOGENOMiHOG000168391
InParanoidiQ68CZ1
KOiK16550
OMAiQTPYNYV
OrthoDBi152378at2759
PhylomeDBiQ68CZ1
TreeFamiTF328883

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
SIGNORiQ68CZ1

Miscellaneous databases

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

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ChiTaRSi
RPGRIP1L human
EvolutionaryTraceiQ68CZ1

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

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GenomeRNAii
23322

Protein Ontology

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PROi
PR:Q68CZ1

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103494 Expressed in 147 organ(s), highest expression level in testis
ExpressionAtlasiQ68CZ1 baseline and differential
GenevisibleiQ68CZ1 HS

Family and domain databases

Gene3Di2.60.40.150, 3 hits
InterProiView protein in InterPro
IPR021656 C2-C2_1
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR041091 RPGRIP1_C
IPR031139 RPGRIP1_fam
IPR031136 RPGRIP1L
PANTHERiPTHR14240 PTHR14240, 1 hit
PTHR14240:SF4 PTHR14240:SF4, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF11618 C2-C2_1, 1 hit
PF18111 RPGR1_C, 1 hit
SMARTiView protein in SMART
SM00239 C2, 2 hits
PROSITEiView protein in PROSITE
PS50004 C2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiFTM_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: Q68CZ1
Secondary accession number(s): A0PJ88, Q9Y2K8
<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: June 12, 2007
Last sequence update: May 18, 2010
Last modified: July 31, 2019
This is version 139 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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