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Entry version 135 (07 Oct 2020)
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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N6Y0

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000130307.11

Human Gene Nomenclature Database

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HGNCi
HGNC:24058, USHBP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
611810, gene

neXtProt; the human protein knowledge platform

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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

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OpenTargetsi
ENSG00000130307

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134909077

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8N6Y0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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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 or proteolytic cleavage.<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

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EPDi
Q8N6Y0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N6Y0

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

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PaxDbi
Q8N6Y0

PeptideAtlas

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PeptideAtlasi
Q8N6Y0

PRoteomics IDEntifications database

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PRIDEi
Q8N6Y0

ProteomicsDB: a multi-organism 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

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Bgeei
ENSG00000130307, Expressed in apex of heart and 136 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N6Y0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N6Y0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000130307, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q8N6Y0
With#Exp.IntAct
ABHD11 - isoform 4 [Q8NFV4-4]3EBI-739895,EBI-12318443
ABI2 - isoform 2 [Q9NYB9-2]3EBI-739895,EBI-11096309
ACMSD - isoform 2 [Q8TDX5-2]3EBI-739895,EBI-12809094
AKAP9 - isoform 2 [Q99996-2]3EBI-739895,EBI-9641546
ANKRD33 - isoform 1 [Q7Z3H0-1]3EBI-739895,EBI-16746154
ANKRD36BP1 [Q96IX9]3EBI-739895,EBI-744859
ARFIP2 [P53365]3EBI-739895,EBI-638194
ARMC5 [Q96C12]3EBI-739895,EBI-6425121
ASB15 [Q8WXK1]3EBI-739895,EBI-12809012
ATP5PO [P48047]3EBI-739895,EBI-355815
BCAS2 [O75934]3EBI-739895,EBI-1050106
BCL2L11 [O43521]3EBI-739895,EBI-526406
BET1 [O15155]2EBI-739895,EBI-749204
BEX2 [Q9BXY8]3EBI-739895,EBI-745073
BEX3 [Q00994]6EBI-739895,EBI-741753
BFSP1 - isoform 2 [Q12934-2]3EBI-739895,EBI-12123320
BFSP2 [Q13515]6EBI-739895,EBI-10229433
BICRAL [Q6AI39]3EBI-739895,EBI-1012434
BLOC1S1 [P78537]3EBI-739895,EBI-348630
BLZF1 [Q9H2G9]3EBI-739895,EBI-2548012
BORCS6 [Q96GS4]3EBI-739895,EBI-10193358
BRAT1 [Q6PJG6]3EBI-739895,EBI-10826195
BRPF1 - isoform 2 [P55201-2]3EBI-739895,EBI-12065306
C1orf109 [Q9NX04]3EBI-739895,EBI-8643161
C1orf216 [Q8TAB5]7EBI-739895,EBI-747505
C21orf58 [Q0VAL7]3EBI-739895,EBI-10226774
CBY2 - isoform 2 [Q8NA61-2]3EBI-739895,EBI-11524851
CCDC103 [Q8IW40]3EBI-739895,EBI-10261970
CCDC116 [Q8IYX3]6EBI-739895,EBI-744311
CCDC120 - isoform 4 [Q96HB5-4]3EBI-739895,EBI-10185348
CCDC121 [Q6ZUS5]3EBI-739895,EBI-2836982
CCDC146 [Q8IYE0]3EBI-739895,EBI-10749669
CCDC146 - isoform 2 [Q8IYE0-2]3EBI-739895,EBI-10247802
CCDC148 [Q8NFR7]3EBI-739895,EBI-2349862
CCDC151 [A5D8V7]3EBI-739895,EBI-8466445
CCDC196 [A0A1B0GWI1]3EBI-739895,EBI-10181422
CCDC197 [Q8NCU1]3EBI-739895,EBI-750686
CCDC22 [O60826]3EBI-739895,EBI-3943153
CCDC24 [Q8N4L8]6EBI-739895,EBI-1104933
CCDC28A [Q7Z6N9]3EBI-739895,EBI-10258115
CCDC42 - isoform 2 [Q96M95-2]3EBI-739895,EBI-11750401
CCDC87 [Q9NVE4]3EBI-739895,EBI-749261
CCHCR1 - isoform 3 [Q8TD31-3]6EBI-739895,EBI-10175300
CDC37 [Q16543]3EBI-739895,EBI-295634
CDC5L [Q99459]3EBI-739895,EBI-374880
CDKN1A [P38936]3EBI-739895,EBI-375077
CENPP [Q6IPU0]6EBI-739895,EBI-10250303
CEP63 - isoform 3 [Q96MT8-3]5EBI-739895,EBI-11522539
CEP68 [Q76N32]3EBI-739895,EBI-9051024
CEP68 - isoform 2 [Q76N32-2]3EBI-739895,EBI-11975967
CFAP206 [Q8IYR0]3EBI-739895,EBI-749051
CNNM3 [Q8NE01]3EBI-739895,EBI-741032
CNNM3 - isoform 3 [Q8NE01-3]3EBI-739895,EBI-10269984
COPS4 [Q9BT78]7EBI-739895,EBI-742413
COPS6 [Q7L5N1]3EBI-739895,EBI-486838
COPS8 [Q99627]3EBI-739895,EBI-2510102
CTNNA3 - isoform 2 [Q9UI47-2]3EBI-739895,EBI-11962928
CTNNBIP1 [Q9NSA3]3EBI-739895,EBI-747082
CTTNBP2NL [Q9P2B4]3EBI-739895,EBI-1774273
CYTH4 [Q9UIA0]3EBI-739895,EBI-11521003
DCTN2 [Q13561]3EBI-739895,EBI-715074
DCTN3 - isoform 2 [O75935-2]3EBI-739895,EBI-12091947
DEUP1 [Q05D60]3EBI-739895,EBI-748597
DTNB [O60941]3EBI-739895,EBI-740402
DTNB - isoform 5 [O60941-5]3EBI-739895,EBI-11984733
DYDC1 [Q8WWB3]7EBI-739895,EBI-740680
EIF4E2 [O60573]3EBI-739895,EBI-398610
ENKD1 [Q9H0I2]3EBI-739895,EBI-744099
ERCC1 [P07992]3EBI-739895,EBI-750962
EXOC7 - isoform 1 [Q9UPT5-1]3EBI-739895,EBI-6251402
EXOC8 [Q8IYI6]5EBI-739895,EBI-742102
FAM107A - isoform 3 [O95990-3]3EBI-739895,EBI-10192902
FAM110A [Q9BQ89]6EBI-739895,EBI-1752811
FAM124B [Q9H5Z6]3EBI-739895,EBI-741626
FAM161B [Q96MY7]3EBI-739895,EBI-7225287
FANCG [A0A0S2Z3R2]3EBI-739895,EBI-16438045
FBF1 - isoform 6 [Q8TES7-6]3EBI-739895,EBI-10244131
FCHSD2 - isoform 3 [O94868-3]3EBI-739895,EBI-11958845
FCRL5 [Q96RD9]3EBI-739895,EBI-12091825
FTL [P02792]3EBI-739895,EBI-713279
GAS8 [O95995]3EBI-739895,EBI-1052570
GATAD2B [Q8WXI9]3EBI-739895,EBI-923440
GEM [P55040]3EBI-739895,EBI-744104
GMCL2 [Q8NEA9]3EBI-739895,EBI-745707
GNG4 [B1APZ0]3EBI-739895,EBI-10175453
GOLGA6L9 [A6NEM1]3EBI-739895,EBI-5916454
GOLGA8DP [Q0D2H9]3EBI-739895,EBI-10181276
GOLGA8G [Q08AF8]3EBI-739895,EBI-10181260
GPSM3 [Q9Y4H4]3EBI-739895,EBI-347538
HAUS1 [Q96CS2]3EBI-739895,EBI-2514791
HAUS8 [Q9BT25]3EBI-739895,EBI-2558143
HGS [O14964]4EBI-739895,EBI-740220
HMG20A [Q9NP66]3EBI-739895,EBI-740641
HMG20B [Q9P0W2]3EBI-739895,EBI-713401
IFT20 [Q8IY31]3EBI-739895,EBI-744203
IL16 - isoform 2 [Q14005-2]3EBI-739895,EBI-17178971
IMP3 [Q9NV31]6EBI-739895,EBI-747481
ING3 [A0A0C4DG38]3EBI-739895,EBI-10263367
INTS4 [Q96HW7]3EBI-739895,EBI-5663129
ITGB3BP [Q13352]3EBI-739895,EBI-712105
KANK2 [Q63ZY3]3EBI-739895,EBI-2556193
KIAA0753 [Q2KHM9]3EBI-739895,EBI-2805604
KLC3 - isoform 3 [Q6P597-3]3EBI-739895,EBI-12076930
KLC4 [Q9NSK0]3EBI-739895,EBI-949319
KLHL38 [Q2WGJ6]6EBI-739895,EBI-6426443
KPNA2 [P52292]3EBI-739895,EBI-349938
KRT14 [P02533]3EBI-739895,EBI-702178
KRT16 [P08779]3EBI-739895,EBI-356410
KRT20 [P35900]3EBI-739895,EBI-742094
KRT26 [Q7Z3Y9]3EBI-739895,EBI-12084444
KRT27 [Q7Z3Y8]3EBI-739895,EBI-3044087
KRT28 [Q7Z3Y7]3EBI-739895,EBI-11980489
KRT31 [Q15323]3EBI-739895,EBI-948001
KRT37 [O76014]3EBI-739895,EBI-1045716
KRT38 [O76015]6EBI-739895,EBI-1047263
KRT40 [Q6A162]3EBI-739895,EBI-10171697
KRT71 [Q3SY84]3EBI-739895,EBI-2952676
KRT75 [O95678]3EBI-739895,EBI-2949715
KRT79 [Q5XKE5]3EBI-739895,EBI-2514135
LENG1 [Q96BZ8]3EBI-739895,EBI-726510
LINC00526 [Q96FQ7]3EBI-739895,EBI-10286106
MAGEB4 [O15481]6EBI-739895,EBI-751857
MCCD1 [P59942]3EBI-739895,EBI-11987923
MCM7 [P33993]3EBI-739895,EBI-355924
MCRS1 [Q96EZ8]6EBI-739895,EBI-348259
MED11 [Q9P086]3EBI-739895,EBI-394704
MED4 [Q9NPJ6]6EBI-739895,EBI-394607
MEI4 [A8MW99]3EBI-739895,EBI-19944212
METTL15 - isoform 4 [A6NJ78-4]3EBI-739895,EBI-10174029
MGC50722 [Q8IVT4]3EBI-739895,EBI-14086479
MIIP [Q5JXC2]5EBI-739895,EBI-2801965
MKRN3 [Q13064]3EBI-739895,EBI-2340269
MNS1 [Q8NEH6]3EBI-739895,EBI-743811
MOS [P00540]6EBI-739895,EBI-1757866
MRPS23 [Q9Y3D9]3EBI-739895,EBI-1054270
MXI1 - isoform 4 [P50539-4]3EBI-739895,EBI-16436111
MYOG [P15173]5EBI-739895,EBI-3906629
MYOZ1 [Q9NP98]3EBI-739895,EBI-744402
NCAPH2 - isoform 4 [Q6IBW4-4]3EBI-739895,EBI-10247000
NDC80 [O14777]4EBI-739895,EBI-715849
NECAB2 - isoform 2 [Q7Z6G3-2]3EBI-739895,EBI-10172876
NEFL [I6L9F6]3EBI-739895,EBI-10178578
NOC4L [Q9BVI4]2EBI-739895,EBI-395927
NUP62 [P37198]3EBI-739895,EBI-347978
OIP5 [O43482]3EBI-739895,EBI-536879
PARVG [Q9HBI0]6EBI-739895,EBI-3921217
PAX6 [P26367]3EBI-739895,EBI-747278
PBX4 [Q9BYU1]3EBI-739895,EBI-10302990
PICK1 [Q9NRD5]3EBI-739895,EBI-79165
PKN1 [Q16512]3EBI-739895,EBI-602382
PKNOX2 [Q96KN3]3EBI-739895,EBI-2692890
PMF1 [Q6P1K2]3EBI-739895,EBI-713832
POLM [Q6PIY2]3EBI-739895,EBI-10253863
POP5 [Q969H6]3EBI-739895,EBI-366525
PPP1R12C [Q9BZL4]3EBI-739895,EBI-721802
PPP1R7 [Q15435]3EBI-739895,EBI-1024281
PPP2R5A [Q15172]3EBI-739895,EBI-641666
PPP2R5D [Q14738]3EBI-739895,EBI-396563
PRKAA2 [P54646]3EBI-739895,EBI-1383852
PRR5 - isoform 2 [P85299-2]3EBI-739895,EBI-12944296
QARS1 [P47897]3EBI-739895,EBI-347462
RASAL2 [Q9UJF2]3EBI-739895,EBI-359444
RCOR3 - isoform 2 [Q9P2K3-2]3EBI-739895,EBI-1504830
RECK [Q6P9E2]3EBI-739895,EBI-10253121
RIBC1 [Q8N443]3EBI-739895,EBI-10265323
RINT1 [Q6NUQ1]3EBI-739895,EBI-726876
RNF20 [Q5VTR2]3EBI-739895,EBI-2372238
RTP5 [Q14D33]3EBI-739895,EBI-10217913
SAPCD2 [Q86UD0]3EBI-739895,EBI-2561646
SAT1 [P21673]3EBI-739895,EBI-711613
SCNM1 [Q9BWG6]3EBI-739895,EBI-748391
SCT [P09683]3EBI-739895,EBI-12844598
SEC14L4 [Q9UDX3]6EBI-739895,EBI-10320311
SEMA4C [Q9C0C4]3EBI-739895,EBI-10303490
SERTAD3 [Q9UJW9]7EBI-739895,EBI-748621
SH2D4A - isoform 2 [Q9H788-2]3EBI-739895,EBI-10308083
SHC3 [Q92529]3EBI-739895,EBI-79084
SMARCD1 [Q96GM5]4EBI-739895,EBI-358489
SMARCE1 [Q969G3]3EBI-739895,EBI-455078
SOHLH1 [Q5JUK2]3EBI-739895,EBI-12288855
SPG21 [Q9NZD8]3EBI-739895,EBI-742688
SRCAP - isoform 3 [Q6ZRS2-3]3EBI-739895,EBI-12029182
SRI [P30626]3EBI-739895,EBI-750459
STX11 [O75558]3EBI-739895,EBI-714135
SYNJ2BP [P57105]6EBI-739895,EBI-1049004
TASOR2 [Q5VWN6]3EBI-739895,EBI-745958
TCEANC - isoform 2 [Q8N8B7-2]3EBI-739895,EBI-11955057
TCHP [Q9BT92]3EBI-739895,EBI-740781
TEKT1 [Q969V4]3EBI-739895,EBI-10180409
THADA [Q6YHU6]3EBI-739895,EBI-2824523
THOC1 [Q96FV9]3EBI-739895,EBI-1765605
TIMM13 [Q9Y5L4]3EBI-739895,EBI-1057344
TPRX1 - isoform 2 [Q8N7U7-2]3EBI-739895,EBI-14115717
TRIM54 [Q9BYV2]6EBI-739895,EBI-2130429
TRIML2 [Q8N7C3]3EBI-739895,EBI-11059915
TSG101 [Q99816]3EBI-739895,EBI-346882
TTC23 - isoform 3 [Q5W5X9-3]3EBI-739895,EBI-9090990
TTC9C [Q8N5M4]3EBI-739895,EBI-2851213
TTLL10 - isoform 3 [Q6ZVT0-3]3EBI-739895,EBI-11979997
TXLNA [P40222]6EBI-739895,EBI-359793
TXLNB [Q8N3L3]6EBI-739895,EBI-6116822
UBE2W [Q96B02]3EBI-739895,EBI-716589
UBE2W [Q96FI0]3EBI-739895,EBI-10285774
UBXN11 [Q5T124]3EBI-739895,EBI-746004
UBXN11 - isoform 6 [Q5T124-6]3EBI-739895,EBI-11524408
USP2 [O75604]3EBI-739895,EBI-743272
VPS28 [Q548N1]3EBI-739895,EBI-10243107
VPS28 [Q9UK41]6EBI-739895,EBI-727424
ZBTB42 [B2RXF5]3EBI-739895,EBI-12287587
ZFHX3 - isoform B [Q15911-2]3EBI-739895,EBI-10237226
ZFYVE26 - isoform 5 [Q68DK2-5]6EBI-739895,EBI-8656416
ZNF417 [Q8TAU3]3EBI-739895,EBI-740727
ZNF483 [Q6P088]3EBI-739895,EBI-10196963
ZNF655 [Q8N720]3EBI-739895,EBI-625509
ZNF688 [A0A0S2Z5X4]3EBI-739895,EBI-16429014
ZNF688 [A0A0S2Z6P0]3EBI-739895,EBI-16429989
ZNF765 [Q7L2R6]3EBI-739895,EBI-9676069
G4XUV33EBI-739895,EBI-10177989
Q8N9J23EBI-739895,EBI-10268244

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
123791, 251 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6Y0, 251 interactors

Molecular INTeraction database

More...
MINTi
Q8N6Y0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000252597

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6Y0, protein

<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
KOG3512, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063974

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_024579_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6Y0

KEGG Orthology (KO)

More...
KOi
K21881

Identification of Orthologs from Complete Genome Data

More...
OMAi
APEMHIM

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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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>
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>
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>

<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

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

More...
CCDSi
CCDS12353.1 [Q8N6Y0-1]

NCBI Reference Sequences

More...
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

More...
GeneIDi
83878

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
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, 251 interactors
IntActiQ8N6Y0, 251 interactors
MINTiQ8N6Y0
STRINGi9606.ENSP00000252597

PTM databases

iPTMnetiQ8N6Y0
PhosphoSitePlusiQ8N6Y0

Polymorphism and mutation databases

BioMutaiUSHBP1
DMDMi74729194

Proteomic databases

EPDiQ8N6Y0
MassIVEiQ8N6Y0
PaxDbiQ8N6Y0
PeptideAtlasiQ8N6Y0
PRIDEiQ8N6Y0
ProteomicsDBi72246 [Q8N6Y0-1]
72247 [Q8N6Y0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
65308, 34 antibodies

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
EuPathDBiHostDB:ENSG00000130307.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
USHBP1
HGNCiHGNC:24058, USHBP1
HPAiENSG00000130307, Low tissue specificity
MIMi611810, gene
neXtProtiNX_Q8N6Y0
OpenTargetsiENSG00000130307
PharmGKBiPA134909077

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3512, Eukaryota
GeneTreeiENSGT00530000063974
HOGENOMiCLU_024579_0_0_1
InParanoidiQ8N6Y0
KOiK21881
OMAiAPEMHIM
PhylomeDBiQ8N6Y0
TreeFamiTF105384

Enzyme and pathway databases

PathwayCommonsiQ8N6Y0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
83878, 17 hits in 870 CRISPR screens

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
PharosiQ8N6Y0, Tbio

Protein Ontology

More...
PROi
PR:Q8N6Y0
RNActiQ8N6Y0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130307, Expressed in apex of heart and 136 other tissues
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%5Fand%5Fisoforms">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: October 7, 2020
This is version 135 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

Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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