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Entry version 126 (31 Jul 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Usher syndrome type-1C protein-binding protein 1

Gene

USHBP1

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

<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

<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:
Usher syndrome type-1C protein-binding protein 1
Short name:
USH1C-binding protein 1
Alternative name(s):
AIE-75-binding protein
MCC-2
Mutated in colon cancer protein 2
<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:USHBP1Imported
Synonyms:AIEBPImported, MCC2
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24058 USHBP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611810 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6Y0

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
83878

Open Targets

More...
OpenTargetsi
ENSG00000130307

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134909077

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
USHBP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74729194

<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_00002521091 – 703Usher syndrome type-1C protein-binding protein 1Add BLAST703

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N6Y0

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

More...
PaxDbi
Q8N6Y0

PeptideAtlas

More...
PeptideAtlasi
Q8N6Y0

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6Y0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72246 [Q8N6Y0-1]
72247 [Q8N6Y0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6Y0

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

More...
PhosphoSitePlusi
Q8N6Y0

<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

Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130307 Expressed in 118 organ(s), highest expression level in apex of heart

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N6Y0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6Y0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA052471

<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 via its C-terminus with the first PDZ domain of USH1C.

1 Publication

<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
Q8N9J23EBI-739895,EBI-10268244
AKAP9Q99996-23EBI-739895,EBI-9641546
ANKRD36BP1Q96IX93EBI-739895,EBI-744859
ARFIP2P533653EBI-739895,EBI-638194
ATP5POP480473EBI-739895,EBI-355815
BET1O151552EBI-739895,EBI-749204
BEX3Q009945EBI-739895,EBI-741753
BFSP2Q135155EBI-739895,EBI-10229433
C1orf109Q9NX043EBI-739895,EBI-8643161
C1orf216Q8TAB56EBI-739895,EBI-747505
CCDC116Q8IYX33EBI-739895,EBI-744311
CCDC120Q96HB5-43EBI-739895,EBI-10185348
CCDC121Q6ZUS53EBI-739895,EBI-2836982
CCDC146Q8IYE0-23EBI-739895,EBI-10247802
CCDC148Q8NFR73EBI-739895,EBI-2349862
CCDC22O608263EBI-739895,EBI-3943153
CCDC24Q8N4L85EBI-739895,EBI-1104933
CCDC87Q9NVE43EBI-739895,EBI-749261
CCHCR1Q8TD31-37EBI-739895,EBI-10175300
CENPPQ6IPU05EBI-739895,EBI-10250303
CEP68Q76N323EBI-739895,EBI-9051024
CFAP206Q8IYR03EBI-739895,EBI-749051
CNNM3Q8NE01-33EBI-739895,EBI-10269984
COPS4Q9BT787EBI-739895,EBI-742413
COPS8Q996273EBI-739895,EBI-2510102
CTNNBIP1Q9NSA33EBI-739895,EBI-747082
CTTNBP2NLQ9P2B43EBI-739895,EBI-1774273
DTNBO609413EBI-739895,EBI-740402
DYDC1Q8WWB36EBI-739895,EBI-740680
EIF4E2O605733EBI-739895,EBI-398610
ERCC1P079923EBI-739895,EBI-750962
EXOC8Q8IYI64EBI-739895,EBI-742102
FAM107AO95990-33EBI-739895,EBI-10192902
FAM110AQ9BQ895EBI-739895,EBI-1752811
FAM124BQ9H5Z63EBI-739895,EBI-741626
FANCGA0A0S2Z3R23EBI-739895,EBI-16438045
FBF1Q8TES7-63EBI-739895,EBI-10244131
FTLP027923EBI-739895,EBI-713279
GATAD2BQ8WXI93EBI-739895,EBI-923440
GMCL2Q8NEA95EBI-739895,EBI-745707
GNG4B1APZ03EBI-739895,EBI-10175453
GOLGA8DPQ0D2H95EBI-739895,EBI-10181276
GOLGA8GQ08AF83EBI-739895,EBI-10181260
GPSM3Q9Y4H43EBI-739895,EBI-347538
HAUS1Q96CS23EBI-739895,EBI-2514791
HGSO149644EBI-739895,EBI-740220
IFT20Q8IY313EBI-739895,EBI-744203
IMP3Q9NV315EBI-739895,EBI-747481
ING3A0A0C4DG383EBI-739895,EBI-10263367
INTS4Q96HW73EBI-739895,EBI-5663129
KIAA0753Q2KHM93EBI-739895,EBI-2805604
KLC4Q9NSK03EBI-739895,EBI-949319
KLHL38Q2WGJ65EBI-739895,EBI-6426443
KPNA2P522923EBI-739895,EBI-349938
KRT20P359003EBI-739895,EBI-742094
KRT31Q153233EBI-739895,EBI-948001
KRT38O760155EBI-739895,EBI-1047263
KRT40Q6A1623EBI-739895,EBI-10171697
KRT79Q5XKE53EBI-739895,EBI-2514135
LENG1Q96BZ83EBI-739895,EBI-726510
LINC00526Q96FQ73EBI-739895,EBI-10286106
MAGEB4O154815EBI-739895,EBI-751857
MCM7P339933EBI-739895,EBI-355924
MCRS1Q96EZ85EBI-739895,EBI-348259
MED4Q9NPJ65EBI-739895,EBI-394607
MOSP005405EBI-739895,EBI-1757866
MRPS23Q9Y3D93EBI-739895,EBI-1054270
MXI1P50539-43EBI-739895,EBI-16436111
NCAPH2Q6IBW4-43EBI-739895,EBI-10247000
NDC80O147773EBI-739895,EBI-715849
NEFLI6L9F63EBI-739895,EBI-10178578
NOC4LQ9BVI42EBI-739895,EBI-395927
PARVGQ9HBI05EBI-739895,EBI-3921217
PMF1Q6P1K23EBI-739895,EBI-713832
PPP1R7Q154353EBI-739895,EBI-1024281
PPP2R5DQ147383EBI-739895,EBI-396563
PRKAA2P546463EBI-739895,EBI-1383852
RASAL2Q9UJF23EBI-739895,EBI-359444
RECKQ6P9E23EBI-739895,EBI-10253121
RNF20Q5VTR23EBI-739895,EBI-2372238
SEC14L4Q9UDX35EBI-739895,EBI-10320311
SERTAD3Q9UJW96EBI-739895,EBI-748621
SH2D4AQ9H788-23EBI-739895,EBI-10308083
SMARCD1Q96GM53EBI-739895,EBI-358489
SMARCE1Q969G33EBI-739895,EBI-455078
STX11O755583EBI-739895,EBI-714135
SYNJ2BPP571055EBI-739895,EBI-1049004
THADAQ6YHU63EBI-739895,EBI-2824523
THOC1Q96FV93EBI-739895,EBI-1765605
TRIM54Q9BYV25EBI-739895,EBI-2130429
TSG101Q998163EBI-739895,EBI-346882
TXLNAP402225EBI-739895,EBI-359793
TXLNBQ8N3L35EBI-739895,EBI-6116822
UBE2WQ96B023EBI-739895,EBI-716589
UBE2WQ96FI03EBI-739895,EBI-10285774
UBXN11Q5T1243EBI-739895,EBI-746004
VPS28Q548N13EBI-739895,EBI-10243107
VPS28Q9UK416EBI-739895,EBI-727424
WHAMMP3Q1A5X74EBI-739895,EBI-11956783
ZFYVE26Q68DK2-55EBI-739895,EBI-8656416
ZNF483Q6P0883EBI-739895,EBI-10196963
ZNF688A0A0S2Z5X43EBI-739895,EBI-16429014
ZNF688A0A0S2Z6P03EBI-739895,EBI-16429989
ZNF765Q7L2R63EBI-739895,EBI-9676069

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123791, 145 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6Y0, 249 interactors

Molecular INTeraction database

More...
MINTi
Q8N6Y0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000252597

<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

More...
SMRi
Q8N6Y0

Database of comparative protein structure models

More...
ModBasei
Search...

<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

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 coili189 – 227Sequence analysisAdd BLAST39
Coiled coili289 – 309Sequence analysisAdd BLAST21
Coiled coili476 – 513Sequence analysisAdd BLAST38
Coiled coili596 – 681Sequence analysisAdd BLAST86

<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 MCC family.Curated

<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 - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGFX Eukaryota
ENOG410ZNR7 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063974

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000154800

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6Y0

KEGG Orthology (KO)

More...
KOi
K21881

Identification of Orthologs from Complete Genome Data

More...
OMAi
AQGPAHV

Database of Orthologous Groups

More...
OrthoDBi
787084at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6Y0

TreeFam database of animal gene trees

More...
TreeFami
TF105384

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040171 USBP1-like
IPR019536 USH1C-bd_PDZ_domain

The PANTHER Classification System

More...
PANTHERi
PTHR23347 PTHR23347, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10506 MCC-bdg_PDZ, 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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 13 Publications (identifier: Q8N6Y0-1) [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
MSARATRPRS RRGRHAPPGE LDPVAESSEE VEAASGSSKP SFAPPPVSSG
60 70 80 90 100
LEQLGPMEEV SGQGLGSRTD KKMDGGSGRE LASAPEVPHK PAVEAHQAPE
110 120 130 140 150
AALQYKETVP PGNGAPDVFQ TLQHTLSSLE AAAAAWRHQP PSHSGPMEFE
160 170 180 190 200
GTSEGGAGSL GKQEGAGSCQ REAARLAERN AWLRLALSSR EDELVRTQAS
210 220 230 240 250
LEAIRAEKET LQKEVQELQD SLLRLEPCPH LSHNQAGGSG SGSSSSEADR
260 270 280 290 300
EPWETQDSFS LAHPLLRRLR SHSSTQILGS LPNQPLSPEM HIMEAQMEQL
310 320 330 340 350
RGSIEKLKCF NRLLSAVLQG YKGRCEGLSM QLGQREAEAT ALHLALQYSE
360 370 380 390 400
HCEEAYRVLL ALREADSGAG DEAPMSDLQA AEKEAWRLLA QEEAAMDAGA
410 420 430 440 450
QQNPQPSPEG SSVDKPTPQE VAFQLRSYVQ RLQERRSLMK ILSEPGPTLA
460 470 480 490 500
PMPTVPRAEA MVQAILGTQA GPALPRLEKT QIQQDLVAAR EALADLMLRL
510 520 530 540 550
QLVRREKRGL ELREAALRAL GPAHVLLLEQ LRWERAELQA GGANSSGGHS
560 570 580 590 600
SGGGSSGDEE EWYQGLPAVP GGTSGIDGGQ VGRAWDPEKL AQELAASLTR
610 620 630 640 650
TLDLQEQLQS LRRELEQVAQ KGRARRSQSA ELNRDLCKAH SALVLAFRGA
660 670 680 690 700
HRKQEEQRRK LEQQMALMEA QQAEEVAVLE ATARALGKPR PPLPPPQLGD

TFL
Length:703
Mass (Da):76,068
Last modified:October 1, 2002 - v1
<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:i75BD22E490DC1467
GO
Isoform 21 Publication (identifier: Q8N6Y0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-703: Missing.

Note: Due to the retention of an intron in the cDNA leading to a prematurate stop codon.1 Publication
Show »
Length:68
Mass (Da):7,014
Checksum:i162E3F97D473E257
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G8JLM4G8JLM4_HUMAN
Usher syndrome type-1C protein-bind...
USHBP1
639Annotation 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>
Q8N8Y1Q8N8Y1_HUMAN
Usher syndrome 1C binding protein 1...
USHBP1 hCG_37669
383Annotation 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>
M0R3B1M0R3B1_HUMAN
Usher syndrome type-1C protein-bind...
USHBP1
121Annotation 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>
M0R172M0R172_HUMAN
Usher syndrome type-1C protein-bind...
USHBP1
32Annotation 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 BAC11443 differs from that shown. Reason: Erroneous initiation.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 conflicti233H → R in BAF84720 (PubMed:14702039).Curated1
Sequence conflicti400A → T in BAB41203 (PubMed:11311560).Curated1
Sequence conflicti454T → I in BAB41203 (PubMed:11311560).Curated1
Sequence conflicti572G → D in BAG37666 (PubMed:14702039).Curated1
Sequence conflicti586D → G in BAC11443 (PubMed:15489334).Curated1
Sequence conflicti633N → S in BAC11443 (PubMed:15489334).Curated1

Natural variant

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_027753439M → V1 PublicationCorresponds to variant dbSNP:rs9676419Ensembl.1
Natural variantiVAR_027754525V → M. Corresponds to variant dbSNP:rs12459398Ensembl.1
Natural variantiVAR_051481677A → V. Corresponds to variant dbSNP:rs1043963Ensembl.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_05208069 – 703Missing in isoform 2. 1 PublicationAdd BLAST635

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
AB026290 mRNA Translation: BAB41203.1
AB040046 mRNA Translation: BAB43978.1
AK075162 mRNA Translation: BAC11443.1 Different initiation.
AK292031 mRNA Translation: BAF84720.1
AK315239 mRNA Translation: BAG37666.1
BC027910 mRNA Translation: AAH27910.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS12353.1 [Q8N6Y0-1]

NCBI Reference Sequences

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RefSeqi
NP_001284632.1, NM_001297703.1
NP_001308346.1, NM_001321417.1 [Q8N6Y0-1]
NP_114147.2, NM_031941.3 [Q8N6Y0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000252597; ENSP00000252597; ENSG00000130307 [Q8N6Y0-1]
ENST00000597928; ENSP00000469562; ENSG00000130307 [Q8N6Y0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83878

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83878

UCSC genome browser

More...
UCSCi
uc002nfs.2 human [Q8N6Y0-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026290 mRNA Translation: BAB41203.1
AB040046 mRNA Translation: BAB43978.1
AK075162 mRNA Translation: BAC11443.1 Different initiation.
AK292031 mRNA Translation: BAF84720.1
AK315239 mRNA Translation: BAG37666.1
BC027910 mRNA Translation: AAH27910.1
CCDSiCCDS12353.1 [Q8N6Y0-1]
RefSeqiNP_001284632.1, NM_001297703.1
NP_001308346.1, NM_001321417.1 [Q8N6Y0-1]
NP_114147.2, NM_031941.3 [Q8N6Y0-1]

3D structure databases

SMRiQ8N6Y0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi123791, 145 interactors
IntActiQ8N6Y0, 249 interactors
MINTiQ8N6Y0
STRINGi9606.ENSP00000252597

PTM databases

iPTMnetiQ8N6Y0
PhosphoSitePlusiQ8N6Y0

Polymorphism and mutation databases

BioMutaiUSHBP1
DMDMi74729194

Proteomic databases

EPDiQ8N6Y0
PaxDbiQ8N6Y0
PeptideAtlasiQ8N6Y0
PRIDEiQ8N6Y0
ProteomicsDBi72246 [Q8N6Y0-1]
72247 [Q8N6Y0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252597; ENSP00000252597; ENSG00000130307 [Q8N6Y0-1]
ENST00000597928; ENSP00000469562; ENSG00000130307 [Q8N6Y0-2]
GeneIDi83878
KEGGihsa:83878
UCSCiuc002nfs.2 human [Q8N6Y0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
83878
DisGeNETi83878

GeneCards: human genes, protein and diseases

More...
GeneCardsi
USHBP1
HGNCiHGNC:24058 USHBP1
HPAiHPA052471
MIMi611810 gene
neXtProtiNX_Q8N6Y0
OpenTargetsiENSG00000130307
PharmGKBiPA134909077

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGFX Eukaryota
ENOG410ZNR7 LUCA
GeneTreeiENSGT00530000063974
HOGENOMiHOG000154800
InParanoidiQ8N6Y0
KOiK21881
OMAiAQGPAHV
OrthoDBi787084at2759
PhylomeDBiQ8N6Y0
TreeFamiTF105384

Miscellaneous databases

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

More...
ChiTaRSi
USHBP1 human

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

More...
GenomeRNAii
83878

Protein Ontology

More...
PROi
PR:Q8N6Y0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130307 Expressed in 118 organ(s), highest expression level in apex of heart
ExpressionAtlasiQ8N6Y0 baseline and differential
GenevisibleiQ8N6Y0 HS

Family and domain databases

InterProiView protein in InterPro
IPR040171 USBP1-like
IPR019536 USH1C-bd_PDZ_domain
PANTHERiPTHR23347 PTHR23347, 1 hit
PfamiView protein in Pfam
PF10506 MCC-bdg_PDZ, 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 nameiUSBP1_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: Q8N6Y0
Secondary accession number(s): A8K7L6
, B2RCR9, Q8NBX7, Q96KH3, Q9BYI8
<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: October 3, 2006
Last sequence update: October 1, 2002
Last modified: July 31, 2019
This is version 126 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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
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