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Entry version 136 (18 Sep 2019)
Sequence version 2 (05 Oct 2010)
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Protein

Vacuolar protein sorting-associated protein 13B

Gene

VPS13B

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

May be involved in protein sorting in post Golgi membrane traffic.By similarity

<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 - Biological processi

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

Biological processProtein transport, Transport

<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:
Vacuolar protein sorting-associated protein 13B
Alternative name(s):
Cohen syndrome protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VPS13B
Synonyms:CHS1, COH1, KIAA0532
<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 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2183 VPS13B

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607817 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z7G8

<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

Cohen syndrome (COH1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.
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_0587511494Missing in COH1. 1 Publication1
Natural variantiVAR_0587521739 – 1744Missing in COH1. 6
Natural variantiVAR_0177592193L → R in COH1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074149EnsemblClinVar.1
Natural variantiVAR_0384222341Y → C in COH1. 1 PublicationCorresponds to variant dbSNP:rs386834104EnsemblClinVar.1
Natural variantiVAR_0384232645G → D in COH1. 1 PublicationCorresponds to variant dbSNP:rs120074153EnsemblClinVar.1
Natural variantiVAR_0587542773S → L in COH1. 1 PublicationCorresponds to variant dbSNP:rs180177370EnsemblClinVar.1
Natural variantiVAR_0587552820I → T in COH1. 1 PublicationCorresponds to variant dbSNP:rs120074155EnsemblClinVar.1
Natural variantiVAR_0384242993N → S in COH1. 1 PublicationCorresponds to variant dbSNP:rs28940272EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Obesity

Organism-specific databases

DisGeNET

More...
DisGeNETi
157680

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

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GeneReviewsi
VPS13B

MalaCards human disease database

More...
MalaCardsi
VPS13B
MIMi216550 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132549

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

More...
Orphaneti
193 Cohen syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26699

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VPS13B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153515

<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_00000658801 – 4022Vacuolar protein sorting-associated protein 13BAdd BLAST4022

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei414PhosphoserineCombined sources1
Modified residuei999PhosphoserineCombined sources1
Modified residuei1002PhosphoserineCombined sources1
Modified residuei1033PhosphoserineCombined sources1
Modified residuei1815PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q7Z7G8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7Z7G8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q7Z7G8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7Z7G8

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

More...
PaxDbi
Q7Z7G8

PeptideAtlas

More...
PeptideAtlasi
Q7Z7G8

PRoteomics IDEntifications database

More...
PRIDEi
Q7Z7G8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
69541 [Q7Z7G8-1]
69542 [Q7Z7G8-2]
69543 [Q7Z7G8-3]
69544 [Q7Z7G8-4]
69545 [Q7Z7G8-5]
69546 [Q7Z7G8-6]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q7Z7G8

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7Z7G8

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

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PhosphoSitePlusi
Q7Z7G8

<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

Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000132549 Expressed in 237 organ(s), highest expression level in stomach

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7Z7G8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z7G8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043865

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127612, 21 interactors

Protein interaction database and analysis system

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IntActi
Q7Z7G8, 18 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000351346

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

3D structure databases

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

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SMRi
Q7Z7G8

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

<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 VPS13 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1809 Eukaryota
COG5043 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154684

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z7G8

KEGG Orthology (KO)

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KOi
K19526

Identification of Orthologs from Complete Genome Data

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OMAi
NPAFEWN

Database of Orthologous Groups

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OrthoDBi
82489at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z7G8

TreeFam database of animal gene trees

More...
TreeFami
TF323503

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009543 SHR-BD
IPR031645 VPS13_C
IPR026854 VPS13_N
IPR039782 VPS13B

The PANTHER Classification System

More...
PANTHERi
PTHR12517 PTHR12517, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12624 Chorein_N, 1 hit
PF06650 SHR-BD, 1 hit
PF16909 VPS13_C, 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 (6+)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 6 <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 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z7G8-1) [UniParc]FASTAAdd to basket
Also known as: 1A

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
MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE
60 70 80 90 100
LKLPFTFLSG HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH
110 120 130 140 150
ESCGSNSTNR STAESTKSSI KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN
160 170 180 190 200
VNIVINNLIL KYVEDDIVLS VNITSAECYT VGELWDRAFM DISATDLVLR
210 220 230 240 250
KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF TYENLNSKMP
260 270 280 290 300
SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL
310 320 330 340 350
TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW
360 370 380 390 400
SFVPAIVSYD DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT
410 420 430 440 450
FKLTEMQVES SYYSPQKVKS KEVLCWEQEG TTVEALMMGE PFFDCQIGFV
460 470 480 490 500
GCRAMCLKGI MGVKDFEENM NRSETEACFF ICGDNLSTKG FTYLTNSLFD
510 520 530 540 550
YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY LYTMENTSGK
560 570 580 590 600
GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC
610 620 630 640 650
ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC
660 670 680 690 700
TISMAEFNLL DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL
710 720 730 740 750
EHSVPMYAEQ LVHVVSSLTQ PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS
760 770 780 790 800
GSYCLPVPVI PSFSTALYGK LLKLPTCWTK RSQIAITEGI FELPNLTIQA
810 820 830 840 850
TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV KSKNPLPTLE
860 870 880 890 900
GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD
910 920 930 940 950
TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ
960 970 980 990 1000
GLAVNIDPIL YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI
1010 1020 1030 1040 1050
GSAPLAKQQS YQASEYASSP VKTKTVTESR PLSVPVKAML NISESCRSPE
1060 1070 1080 1090 1100
ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI PNDSLPSPST IVSGDIPGTV
1110 1120 1130 1140 1150
RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV IPRPILEEGD
1160 1170 1180 1190 1200
AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR
1210 1220 1230 1240 1250
HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP
1260 1270 1280 1290 1300
TSPETMAGPV PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES
1310 1320 1330 1340 1350
PFSDSVTLEQ TTSNIGGTSG RVSLWMQWVL PKITIKLFAP DPENKGTEVC
1360 1370 1380 1390 1400
MVSELEDLSA SIDVQDVYTK VKCKIESFNI DHYRSSLGEE CWSLGQCGGV
1410 1420 1430 1440 1450
FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD GTHQQHGFLS
1460 1470 1480 1490 1500
LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD
1510 1520 1530 1540 1550
IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN
1560 1570 1580 1590 1600
TSVIRIFIPK TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV
1610 1620 1630 1640 1650
LRKDIYQRAL NLGILRDPGS EIEDRQYQID LQSINIGTAQ WHQLKPEKES
1660 1670 1680 1690 1700
VSGGVVTETE RNSQNPALEW NMASSIRRHQ ERRAILTPVL TDFSVRITGA
1710 1720 1730 1740 1750
PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV AQVQLLHQLI
1760 1770 1780 1790 1800
VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS
1810 1820 1830 1840 1850
VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT
1860 1870 1880 1890 1900
YSCMALSKSK SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL
1910 1920 1930 1940 1950
LRSSISFPSG KKIGVLSLES LHASTRSSAR QALGITIVRQ PGRRGTGDLQ
1960 1970 1980 1990 2000
LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF DAVLKGVASD YKCIDPGKTL
2010 2020 2030 2040 2050
PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP ADVNLDISKP
2060 2070 2080 2090 2100
LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY
2110 2120 2130 2140 2150
YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH
2160 2170 2180 2190 2200
TSKPCLLASL SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER
2210 2220 2230 2240 2250
SRILIGPCCA TANLEAKWCK HSGNPGPEQS IPKISIDLRG GLLQVFWGQE
2260 2270 2280 2290 2300
HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV PQMSSPVEKN QTFKSEQSSD
2310 2320 2330 2340 2350
DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR YPEPRVLTLV
2360 2370 2380 2390 2400
RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE
2410 2420 2430 2440 2450
SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS
2460 2470 2480 2490 2500
TCDPLVTPTA LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG
2510 2520 2530 2540 2550
TAAPQYLQPF VSDRNMPSEL EYMIVSFREP HMYLRQWNNG SVCQEIQFLA
2560 2570 2580 2590 2600
QADCKLLECR NVTMQSVVKP FSIFGQMAVS SDVVEKLLDC TVIVDSVFVN
2610 2620 2630 2640 2650
LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE TLRFGQVDTD
2660 2670 2680 2690 2700
ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR
2710 2720 2730 2740 2750
TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI
2760 2770 2780 2790 2800
GQDGQAVVRE HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL
2810 2820 2830 2840 2850
ESKAPEYSIV IQVPSSNSSI IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR
2860 2870 2880 2890 2900
SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE KPLQNIEPDL VHHLTFQARE
2910 2920 2930 2940 2950
EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE KSLQPIWPYN
2960 2970 2980 2990 3000
KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW
3010 3020 3030 3040 3050
LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL
3060 3070 3080 3090 3100
TSPKWKDGGN GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI
3110 3120 3130 3140 3150
QIIQIEDKTT IINNTPYQIF YKPQLSVCNP HSGKEYFRVP DSATFSICPG
3160 3170 3180 3190 3200
GEQPAMKSSS LPCWDLMPDI SQSVLDASLL QKQIMLGFSP APGADSSQCW
3210 3220 3230 3240 3250
SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL GVTYLTLSED
3260 3270 3280 3290 3300
PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS
3310 3320 3330 3340 3350
YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY
3360 3370 3380 3390 3400
VDVVHQCGTV FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD
3410 3420 3430 3440 3450
DLTHHKASAE LLRLTLDNIF LCVAPGAGPL PGEEPVAALF ELYCVEICCG
3460 3470 3480 3490 3500
DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ CSKMQSLLIS NKELEEYKEK
3510 3520 3530 3540 3550
CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY IKTLFDTYLP
3560 3570 3580 3590 3600
NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH
3610 3620 3630 3640 3650
ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV
3660 3670 3680 3690 3700
VGSLDILGSP ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF
3710 3720 3730 3740 3750
VKHISKGTLT SITNLATSLA RNMDRLSLDE EHYNRQEEWR RQLPESLGEG
3760 3770 3780 3790 3800
LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT SEAQASAGHK AKGVISGVGK
3810 3820 3830 3840 3850
GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP SDLHADQAPN
3860 3870 3880 3890 3900
SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV
3910 3920 3930 3940 3950
SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE
3960 3970 3980 3990 4000
QQYNRLVDYI TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH
4010 4020
FAQVFLSKFT MVKNKALRKG FP
Length:4,022
Mass (Da):448,664
Last modified:October 5, 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:i35B79EE13730AFE3
GO
Isoform 2 (identifier: Q7Z7G8-2) [UniParc]FASTAAdd to basket
Also known as: 2A

The sequence of this isoform differs from the canonical sequence as follows:
     1386-1433: SLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPS → RPGEGWQSGHFEGVFLQCKEKSV

Show »
Length:3,997
Mass (Da):445,988
Checksum:i6EC3A1177E48E2C4
GO
Isoform 3 (identifier: Q7Z7G8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1386-1427: SLGEECWSLG...ISKQDPFSNC → RPGEGWQSGH...AMWRCLPFLY
     1428-4022: Missing.

Show »
Length:1,427
Mass (Da):159,614
Checksum:i6893DF0E105FFD2F
GO
Isoform 4 (identifier: Q7Z7G8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     839-863: GVKSKNPLPTLEGSIQNVELKYCST → EIGSCYVAQVDLELLASNDPPTSTS
     864-4022: Missing.

Show »
Length:863
Mass (Da):97,404
Checksum:iA2FA2A03674406F4
GO
Isoform 5 (identifier: Q7Z7G8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     403-415: LTEMQVESSYYSP → VGLFSCCLYLYQL
     416-4022: Missing.

Show »
Length:415
Mass (Da):47,210
Checksum:iD3EB3552F9CC5737
GO
Isoform 6 (identifier: Q7Z7G8-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     977-977: Missing.

Show »
Length:4,021
Mass (Da):448,536
Checksum:iA946700FAF21CC1D
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YB72H0YB72_HUMAN
Vacuolar protein sorting-associated...
VPS13B
155Annotation 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 BAC03664 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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 conflicti401F → S in BAA91275 (PubMed:14702039).Curated1
Sequence conflicti544M → V in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti544M → V in AAP41103 (PubMed:12730828).Curated1
Sequence conflicti544M → V in AAP41104 (PubMed:12730828).Curated1
Sequence conflicti544M → V in AAP41105 (PubMed:12730828).Curated1
Sequence conflicti544M → V in BAC03664 (PubMed:14702039).Curated1
Sequence conflicti618D → N in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti618D → N in AAP41103 (PubMed:12730828).Curated1
Sequence conflicti618D → N in AAP41104 (PubMed:12730828).Curated1
Sequence conflicti618D → N in AAP41105 (PubMed:12730828).Curated1
Sequence conflicti618D → N in BAC03664 (PubMed:14702039).Curated1
Sequence conflicti1387L → H in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1401F → I in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1425S → R in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1673A → D in AAP41102 (PubMed:12730828).Curated1
Sequence conflicti1673A → D in AAP41103 (PubMed:12730828).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058749829A → T1 PublicationCorresponds to variant dbSNP:rs61753721EnsemblClinVar.1
Natural variantiVAR_058750866V → I1 PublicationCorresponds to variant dbSNP:rs150185067EnsemblClinVar.1
Natural variantiVAR_0577501138P → L. Corresponds to variant dbSNP:rs35342235EnsemblClinVar.1
Natural variantiVAR_0587511494Missing in COH1. 1 Publication1
Natural variantiVAR_0587521739 – 1744Missing in COH1. 6
Natural variantiVAR_0587531994I → V1 PublicationCorresponds to variant dbSNP:rs139640224EnsemblClinVar.1
Natural variantiVAR_0177592193L → R in COH1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs120074149EnsemblClinVar.1
Natural variantiVAR_0384222341Y → C in COH1. 1 PublicationCorresponds to variant dbSNP:rs386834104EnsemblClinVar.1
Natural variantiVAR_0694292481V → I Found in a patient with mental retardation and facial dysmorphisms. 1 PublicationCorresponds to variant dbSNP:rs201963516EnsemblClinVar.1
Natural variantiVAR_0577512584V → A. Corresponds to variant dbSNP:rs7833870EnsemblClinVar.1
Natural variantiVAR_0384232645G → D in COH1. 1 PublicationCorresponds to variant dbSNP:rs120074153EnsemblClinVar.1
Natural variantiVAR_0587542773S → L in COH1. 1 PublicationCorresponds to variant dbSNP:rs180177370EnsemblClinVar.1
Natural variantiVAR_0587552820I → T in COH1. 1 PublicationCorresponds to variant dbSNP:rs120074155EnsemblClinVar.1
Natural variantiVAR_0587562822Y → C1 PublicationCorresponds to variant dbSNP:rs371325199EnsemblClinVar.1
Natural variantiVAR_0384242993N → S in COH1. 1 PublicationCorresponds to variant dbSNP:rs28940272EnsemblClinVar.1
Natural variantiVAR_0363253001L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0587573142S → R1 Publication1
Natural variantiVAR_0577523432G → R. Corresponds to variant dbSNP:rs6468694EnsemblClinVar.1
Isoform 5 (identifier: Q7Z7G8-5)
Natural varianti413 – 415Missing CuratedCorresponds to variant dbSNP:rs7460625Ensembl.3

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_009404403 – 415LTEMQ…SYYSP → VGLFSCCLYLYQL in isoform 5. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_009405416 – 4022Missing in isoform 5. 2 PublicationsAdd BLAST3607
Alternative sequenceiVSP_009406839 – 863GVKSK…KYCST → EIGSCYVAQVDLELLASNDP PTSTS in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_009407864 – 4022Missing in isoform 4. 1 PublicationAdd BLAST3159
Alternative sequenceiVSP_039837977Missing in isoform 6. 1 Publication1
Alternative sequenceiVSP_0094081386 – 1433SLGEE…GFFPS → RPGEGWQSGHFEGVFLQCKE KSV in isoform 2. 2 PublicationsAdd BLAST48
Alternative sequenceiVSP_0094091386 – 1427SLGEE…PFSNC → RPGEGWQSGHFEGVFLQCKE KSVPWGRVLVFGAMWRCLPF LY in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_0094101428 – 4022Missing in isoform 3. 1 PublicationAdd BLAST2595

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
AY223814 mRNA Translation: AAP41102.1
AY223815 mRNA Translation: AAP41103.1
AY223816 mRNA Translation: AAP41104.1
AY223817 mRNA Translation: AAP41105.1
AY223818 mRNA Translation: AAP41106.1
AJ608772 mRNA Translation: CAE75584.1
AJ608773 mRNA Translation: CAE75585.1
AK091431 mRNA Translation: BAC03664.1 Different initiation.
AK000590 mRNA Translation: BAA91275.1
AC018442 Genomic DNA No translation available.
AC023933 Genomic DNA No translation available.
AC026827 Genomic DNA No translation available.
AC104986 Genomic DNA No translation available.
AC105195 Genomic DNA No translation available.
AC105328 Genomic DNA No translation available.
AC107909 Genomic DNA No translation available.
AP004289 Genomic DNA No translation available.
AP004290 Genomic DNA No translation available.
AB011104 mRNA Translation: BAA25458.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47903.1 [Q7Z7G8-5]
CCDS6280.1 [Q7Z7G8-1]
CCDS6281.1 [Q7Z7G8-2]
CCDS6283.1 [Q7Z7G8-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00070

NCBI Reference Sequences

More...
RefSeqi
NP_056058.2, NM_015243.2 [Q7Z7G8-4]
NP_060360.3, NM_017890.4 [Q7Z7G8-1]
NP_689777.3, NM_152564.4 [Q7Z7G8-2]
NP_858047.2, NM_181661.2 [Q7Z7G8-5]
XP_005250857.1, XM_005250800.3 [Q7Z7G8-1]
XP_005250858.1, XM_005250801.4 [Q7Z7G8-1]
XP_011515150.1, XM_011516848.2 [Q7Z7G8-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355155; ENSP00000347281; ENSG00000132549 [Q7Z7G8-4]
ENST00000357162; ENSP00000349685; ENSG00000132549 [Q7Z7G8-2]
ENST00000358544; ENSP00000351346; ENSG00000132549 [Q7Z7G8-1]
ENST00000441350; ENSP00000398472; ENSG00000132549 [Q7Z7G8-5]
ENST00000496144; ENSP00000430900; ENSG00000132549 [Q7Z7G8-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
157680

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:157680

UCSC genome browser

More...
UCSCi
uc003yis.4 human [Q7Z7G8-1]

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
AY223814 mRNA Translation: AAP41102.1
AY223815 mRNA Translation: AAP41103.1
AY223816 mRNA Translation: AAP41104.1
AY223817 mRNA Translation: AAP41105.1
AY223818 mRNA Translation: AAP41106.1
AJ608772 mRNA Translation: CAE75584.1
AJ608773 mRNA Translation: CAE75585.1
AK091431 mRNA Translation: BAC03664.1 Different initiation.
AK000590 mRNA Translation: BAA91275.1
AC018442 Genomic DNA No translation available.
AC023933 Genomic DNA No translation available.
AC026827 Genomic DNA No translation available.
AC104986 Genomic DNA No translation available.
AC105195 Genomic DNA No translation available.
AC105328 Genomic DNA No translation available.
AC107909 Genomic DNA No translation available.
AP004289 Genomic DNA No translation available.
AP004290 Genomic DNA No translation available.
AB011104 mRNA Translation: BAA25458.1
CCDSiCCDS47903.1 [Q7Z7G8-5]
CCDS6280.1 [Q7Z7G8-1]
CCDS6281.1 [Q7Z7G8-2]
CCDS6283.1 [Q7Z7G8-4]
PIRiT00070
RefSeqiNP_056058.2, NM_015243.2 [Q7Z7G8-4]
NP_060360.3, NM_017890.4 [Q7Z7G8-1]
NP_689777.3, NM_152564.4 [Q7Z7G8-2]
NP_858047.2, NM_181661.2 [Q7Z7G8-5]
XP_005250857.1, XM_005250800.3 [Q7Z7G8-1]
XP_005250858.1, XM_005250801.4 [Q7Z7G8-1]
XP_011515150.1, XM_011516848.2 [Q7Z7G8-6]

3D structure databases

SMRiQ7Z7G8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi127612, 21 interactors
IntActiQ7Z7G8, 18 interactors
STRINGi9606.ENSP00000351346

PTM databases

CarbonylDBiQ7Z7G8
iPTMnetiQ7Z7G8
PhosphoSitePlusiQ7Z7G8

Polymorphism and mutation databases

BioMutaiVPS13B
DMDMi308153515

Proteomic databases

EPDiQ7Z7G8
jPOSTiQ7Z7G8
MassIVEiQ7Z7G8
MaxQBiQ7Z7G8
PaxDbiQ7Z7G8
PeptideAtlasiQ7Z7G8
PRIDEiQ7Z7G8
ProteomicsDBi69541 [Q7Z7G8-1]
69542 [Q7Z7G8-2]
69543 [Q7Z7G8-3]
69544 [Q7Z7G8-4]
69545 [Q7Z7G8-5]
69546 [Q7Z7G8-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355155; ENSP00000347281; ENSG00000132549 [Q7Z7G8-4]
ENST00000357162; ENSP00000349685; ENSG00000132549 [Q7Z7G8-2]
ENST00000358544; ENSP00000351346; ENSG00000132549 [Q7Z7G8-1]
ENST00000441350; ENSP00000398472; ENSG00000132549 [Q7Z7G8-5]
ENST00000496144; ENSP00000430900; ENSG00000132549 [Q7Z7G8-3]
GeneIDi157680
KEGGihsa:157680
UCSCiuc003yis.4 human [Q7Z7G8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
157680
DisGeNETi157680

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VPS13B
GeneReviewsiVPS13B
HGNCiHGNC:2183 VPS13B
HPAiHPA043865
MalaCardsiVPS13B
MIMi216550 phenotype
607817 gene
neXtProtiNX_Q7Z7G8
OpenTargetsiENSG00000132549
Orphaneti193 Cohen syndrome
PharmGKBiPA26699

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1809 Eukaryota
COG5043 LUCA
GeneTreeiENSGT00940000154684
InParanoidiQ7Z7G8
KOiK19526
OMAiNPAFEWN
OrthoDBi82489at2759
PhylomeDBiQ7Z7G8
TreeFamiTF323503

Miscellaneous databases

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

More...
ChiTaRSi
VPS13B human

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

More...
GenomeRNAii
157680

Pharos

More...
Pharosi
Q7Z7G8

Protein Ontology

More...
PROi
PR:Q7Z7G8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132549 Expressed in 237 organ(s), highest expression level in stomach
ExpressionAtlasiQ7Z7G8 baseline and differential
GenevisibleiQ7Z7G8 HS

Family and domain databases

InterProiView protein in InterPro
IPR009543 SHR-BD
IPR031645 VPS13_C
IPR026854 VPS13_N
IPR039782 VPS13B
PANTHERiPTHR12517 PTHR12517, 1 hit
PfamiView protein in Pfam
PF12624 Chorein_N, 1 hit
PF06650 SHR-BD, 1 hit
PF16909 VPS13_C, 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 nameiVP13B_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: Q7Z7G8
Secondary accession number(s): C9JD30
, Q709C6, Q709C7, Q7Z7G4, Q7Z7G5, Q7Z7G6, Q7Z7G7, Q8NB77, Q9NWV1, Q9Y4E7
<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: February 16, 2004
Last sequence update: October 5, 2010
Last modified: September 18, 2019
This is version 136 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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