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Entry version 161 (11 Dec 2019)
Sequence version 2 (19 Jul 2005)
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Protein

Vacuolar protein sorting-associated protein 13A

Gene

VPS13A

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 play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.

<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 13A
Alternative name(s):
Chorea-acanthocytosis protein
Chorein
<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:VPS13A
Synonyms:CHAC, KIAA0986
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000197969.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1908 VPS13A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605978 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96RL7

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

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

<p>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

Choreoacanthocytosis (CHAC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation.
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_03842090I → K in CHAC. 1 PublicationCorresponds to variant dbSNP:rs119477052EnsemblClinVar.1
Natural variantiVAR_0581161095A → P in CHAC. 1 Publication1
Natural variantiVAR_0128031452S → P in CHAC. 1 Publication1
Natural variantiVAR_0581202460W → R in CHAC. 1 PublicationCorresponds to variant dbSNP:rs1400127478Ensembl.1
Natural variantiVAR_0384212721Y → C in CHAC. 1 PublicationCorresponds to variant dbSNP:rs781395681Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
23230

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

More...
GeneReviewsi
VPS13A

MalaCards human disease database

More...
MalaCardsi
VPS13A
MIMi200150 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197969

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

More...
Orphaneti
2388 Choreoacanthocytosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26444

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96RL7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
VPS13A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71152975

<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_00001062771 – 3174Vacuolar protein sorting-associated protein 13AAdd BLAST3174

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 residuei839PhosphoserineBy similarity1
Modified residuei1416PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96RL7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96RL7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96RL7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96RL7

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

More...
PaxDbi
Q96RL7

PeptideAtlas

More...
PeptideAtlasi
Q96RL7

PRoteomics IDEntifications database

More...
PRIDEi
Q96RL7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77984 [Q96RL7-1]
77985 [Q96RL7-2]
77986 [Q96RL7-3]
77987 [Q96RL7-4]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q96RL7

GlyConnect protein glycosylation platform

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GlyConnecti
1889

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96RL7

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

More...
PhosphoSitePlusi
Q96RL7

<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. Higher expression is found in brain, heart, skeletal muscle and kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197969 Expressed in 223 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96RL7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96RL7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021652
HPA021662

<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%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
P163333EBI-1752583,EBI-389883

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116835, 25 interactors

Protein interaction database and analysis system

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IntActi
Q96RL7, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000353422

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96RL7 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

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SMRi
Q96RL7

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati212 – 245TPR 1Add BLAST34
Repeati373 – 406TPR 2Add BLAST34
Repeati537 – 575TPR 3Add BLAST39
Repeati1256 – 1289TPR 4Add BLAST34
Repeati1291 – 1320TPR 5Add BLAST30
Repeati2009 – 2041TPR 6Add BLAST33
Repeati2568 – 2601TPR 7Add BLAST34
Repeati2717 – 2751TPR 8Add BLAST35
Repeati2860 – 2898TPR 9Add BLAST39
Repeati3086 – 3119TPR 10Add BLAST34

<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

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1809 Eukaryota
COG5043 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183083

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96RL7

KEGG Orthology (KO)

More...
KOi
K19525

Identification of Orthologs from Complete Genome Data

More...
OMAi
HYHAREW

Database of Orthologous Groups

More...
OrthoDBi
4159at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96RL7

TreeFam database of animal gene trees

More...
TreeFami
TF300316

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015412 Autophagy-rel_C
IPR009543 SHR-BD
IPR026847 VPS13
IPR031645 VPS13_C
IPR031642 VPS13_mid_rpt
IPR026854 VPS13_N
IPR031646 VPS13_N2

The PANTHER Classification System

More...
PANTHERi
PTHR16166 PTHR16166, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09333 ATG_C, 1 hit
PF12624 Chorein_N, 1 hit
PF06650 SHR-BD, 1 hit
PF16908 VPS13, 1 hit
PF16909 VPS13_C, 1 hit
PF16910 VPS13_mid_rpt, 2 hits

<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 (4+)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 4 <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 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96RL7-1) [UniParc]FASTAAdd to basket
Also known as: A

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
MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ
60 70 80 90 100
LDVPFKVKVG HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP
110 120 130 140 150
LKEEKQLMEA KQQELKRIEE AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN
160 170 180 190 200
LQVKISSIHI RYEDDITNRD KPLSFGISLQ NLSMQTTDQY WVPCLHDETE
210 220 230 240 250
KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV NENIVPEGYD
260 270 280 290 300
FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME
310 320 330 340 350
LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW
360 370 380 390 400
SWKHIRKHRQ KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI
410 420 430 440 450
ARQTAEVEVK KAGYKIYKEG VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ
460 470 480 490 500
PETLEEMLTP EEKALLYEAI GYSETAVDPT LLKTFEALKF FVHLKSMSIV
510 520 530 540 550
LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF HITGLPDNSE
560 570 580 590 600
KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS
610 620 630 640 650
IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN
660 670 680 690 700
LKASYIIVPQ DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE
710 720 730 740 750
IMDRAYDSFD IQLTSVQLLY SRVGDNWREA RKLSVSTQHI LVPMHFNLEL
760 770 780 790 800
SKAMVFMDVR MPKFKIYGKL PLISLRISDK KLQGIMELIE SIPKPEPVTE
810 820 830 840 850
VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE EEFFDAPCSP
860 870 880 890 900
LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD
910 920 930 940 950
CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL
960 970 980 990 1000
VTTLDNTMED LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT
1010 1020 1030 1040 1050
EALLNTINYL HNILPQSEEK SAPVSTTETE DKGDVIKKLA LKLSTNEDII
1060 1070 1080 1090 1100
TLQILAELSC LQIFIQDQKC NISEIKIEGL DSEMIMRPSE TEINAKLRNI
1110 1120 1130 1140 1150
IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT DMNVVDIQVN
1160 1170 1180 1190 1200
LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL
1210 1220 1230 1240 1250
AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ
1260 1270 1280 1290 1300
SSPPPVIDLI TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC
1310 1320 1330 1340 1350
WEWYQEVPCF NVNAQLKPME FILSQEDITT IFKTLHGNIW YEKDGSASPA
1360 1370 1380 1390 1400
VTKDQYSATS GVTTNASHHS GGATVVTAAV VEVHSRALLV KTTLNISFKT
1410 1420 1430 1440 1450
DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK MYTDGSTFSS
1460 1470 1480 1490 1500
FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA
1510 1520 1530 1540 1550
VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV
1560 1570 1580 1590 1600
KWEINVIIKN PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI
1610 1620 1630 1640 1650
KDLQVRACPF LPVKRKGKIT TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT
1660 1670 1680 1690 1700
LKVSPVIINT MITITSALYT TKETIPEETA SSTAHLWEKK DTKTLKMWFL
1710 1720 1730 1740 1750
EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR TVPMLLAKSR
1760 1770 1780 1790 1800
FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW
1810 1820 1830 1840 1850
NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL
1860 1870 1880 1890 1900
VMLNNLVKAF TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN
1910 1920 1930 1940 1950
IPMAKSYVLK NGESLSMDYI RTKDNDHFNA MTSLSSKLFF ILLTPVNHST
1960 1970 1980 1990 2000
ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ IDTVEGSKKV TIRSPVQIRN
2010 2020 2030 2040 2050
HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE DENYQMCEGI
2060 2070 2080 2090 2100
DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD
2110 2120 2130 2140 2150
LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK
2160 2170 2180 2190 2200
ARLHLKLLDY LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM
2210 2220 2230 2240 2250
TYNTGQTVVA FHSPYWMVNK TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP
2260 2270 2280 2290 2300
NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH GAVKCKGLKM DYQVGVTIDL
2310 2320 2330 2340 2350
SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL EQCIPFWPEY
2360 2370 2380 2390 2400
ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST
2410 2420 2430 2440 2450
VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA
2460 2470 2480 2490 2500
DPVGSRRLKW RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL
2510 2520 2530 2540 2550
FTEDPRVFKV TYESEKAELA EQEIAVALQD VGISLVNNYT KQEVAYIGIT
2560 2570 2580 2590 2600
SSDVVWETKP KKKARWKPMS VKHTEKLERE FKEYTESSPS EDKVIQLDTN
2610 2620 2630 2640 2650
VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ SSFRIQIYRI
2660 2670 2680 2690 2700
QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR
2710 2720 2730 2740 2750
IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE
2760 2770 2780 2790 2800
EYKTASLVDQ SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP
2810 2820 2830 2840 2850
VHSLNLLLKS IGATLTDVQD VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK
2860 2870 2880 2890 2900
QAIKQMYVLI LGLDVLGNPF GLIREFSEGV EAFFYEPYQG AIQGPEEFVE
2910 2920 2930 2940 2950
GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED YQQKRREAMN
2960 2970 2980 2990 3000
KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK
3010 3020 3030 3040 3050
GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP
3060 3070 3080 3090 3100
YRLRDGTGNQ MLQVMENGRF AKYKYFTHVM INKTDMLMIT RRGVLFVTKG
3110 3120 3130 3140 3150
TFGQLTCEWQ YSFDEFTKEP FIVHGRRLRI EAKERVKSVF HAREFGKIIN
3160 3170
FKTPEDARWI LTKLQEAREP SPSL
Length:3,174
Mass (Da):360,276
Last modified:July 19, 2005 - 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:i58C8EC818E3350F4
GO
Isoform 2 (identifier: Q96RL7-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     3064-3174: VMENGRFAKY...QEAREPSPSL → KIQFYREWIMTHSSSSDDDDDDDDDDESDLNH

Show »
Length:3,095
Mass (Da):350,903
Checksum:i525800E2A69DDBF5
GO
Isoform 3 (identifier: Q96RL7-3) [UniParc]FASTAAdd to basket
Also known as: Chorein 2A

The sequence of this isoform differs from the canonical sequence as follows:
     1040-1078: Missing.

Show »
Length:3,135
Mass (Da):355,861
Checksum:i2C854C334B5C4B73
GO
Isoform 4 (identifier: Q96RL7-4) [UniParc]FASTAAdd to basket
Also known as: Chorein 1D

The sequence of this isoform differs from the canonical sequence as follows:
     3064-3069: VMENGR → ASKSLI
     3070-3174: Missing.

Show »
Length:3,069
Mass (Da):347,673
Checksum:i688A6FAAEA6B5CEE
GO

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

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YF78H0YF78_HUMAN
Vacuolar protein sorting-associated...
VPS13A
177Annotation 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>
H0Y7P8H0Y7P8_HUMAN
Vacuolar protein sorting-associated...
VPS13A
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>
H0YG53H0YG53_HUMAN
Vacuolar protein sorting-associated...
VPS13A
41Annotation 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 AAH20576 differs from that shown. Intron retention.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 conflicti1198K → R in AAK61861 (PubMed:11381253).Curated1
Sequence conflicti1850L → R in AAH41852 (PubMed:15489334).Curated1
Sequence conflicti1880I → F in AAH41852 (PubMed:15489334).Curated1
Sequence conflicti2281G → E in BAB14337 (PubMed:14702039).Curated1
Sequence conflicti2354K → R in AAH41852 (PubMed:15489334).Curated1
Sequence conflicti2413T → R in BAB14337 (PubMed:14702039).Curated1
Sequence conflicti2567K → E in BAB14337 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03842090I → K in CHAC. 1 PublicationCorresponds to variant dbSNP:rs119477052EnsemblClinVar.1
Natural variantiVAR_036324161R → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_058114565F → L1 Publication1
Natural variantiVAR_058115898V → A1 PublicationCorresponds to variant dbSNP:rs78048112Ensembl.1
Natural variantiVAR_0581161095A → P in CHAC. 1 Publication1
Natural variantiVAR_0128031452S → P in CHAC. 1 Publication1
Natural variantiVAR_0581171490R → K1 PublicationCorresponds to variant dbSNP:rs76077278EnsemblClinVar.1
Natural variantiVAR_0581181587Y → C1 PublicationCorresponds to variant dbSNP:rs149840356EnsemblClinVar.1
Natural variantiVAR_0581191973V → I1 PublicationCorresponds to variant dbSNP:rs41289969Ensembl.1
Natural variantiVAR_0581202460W → R in CHAC. 1 PublicationCorresponds to variant dbSNP:rs1400127478Ensembl.1
Natural variantiVAR_0581212486I → T1 PublicationCorresponds to variant dbSNP:rs141138349EnsemblClinVar.1
Natural variantiVAR_0384212721Y → C in CHAC. 1 PublicationCorresponds to variant dbSNP:rs781395681Ensembl.1
Natural variantiVAR_0581223172P → L1 PublicationCorresponds to variant dbSNP:rs75740713Ensembl.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_0149041040 – 1078Missing in isoform 3. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_0065503064 – 3174VMENG…PSPSL → KIQFYREWIMTHSSSSDDDD DDDDDDESDLNH in isoform 2. 3 PublicationsAdd BLAST111
Alternative sequenceiVSP_0149053064 – 3069VMENGR → ASKSLI in isoform 4. 1 Publication6
Alternative sequenceiVSP_0149063070 – 3174Missing in isoform 4. 1 PublicationAdd BLAST105

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
AF337532 mRNA Translation: AAK61861.1
AB054005 mRNA Translation: BAB59128.1
AJ608769 mRNA Translation: CAE75581.1
AJ626859 mRNA Translation: CAF25186.1
AL158159 Genomic DNA No translation available.
AL353710 Genomic DNA No translation available.
AL359204 Genomic DNA No translation available.
AB023203 mRNA Translation: BAA76830.1
BC020576 mRNA Translation: AAH20576.1 Sequence problems.
BC041852 mRNA Translation: AAH41852.1
AK022967 mRNA Translation: BAB14337.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47983.1 [Q96RL7-4]
CCDS55321.1 [Q96RL7-3]
CCDS6655.1 [Q96RL7-1]
CCDS6656.1 [Q96RL7-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001018047.1, NM_001018037.1 [Q96RL7-3]
NP_001018048.1, NM_001018038.2 [Q96RL7-4]
NP_056001.1, NM_015186.3 [Q96RL7-2]
NP_150648.2, NM_033305.2 [Q96RL7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000360280; ENSP00000353422; ENSG00000197969 [Q96RL7-1]
ENST00000376636; ENSP00000365823; ENSG00000197969 [Q96RL7-3]
ENST00000643348; ENSP00000493592; ENSG00000197969 [Q96RL7-2]
ENST00000645632; ENSP00000496361; ENSG00000197969 [Q96RL7-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23230

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23230

UCSC genome browser

More...
UCSCi
uc004akp.5 human [Q96RL7-1]

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
AF337532 mRNA Translation: AAK61861.1
AB054005 mRNA Translation: BAB59128.1
AJ608769 mRNA Translation: CAE75581.1
AJ626859 mRNA Translation: CAF25186.1
AL158159 Genomic DNA No translation available.
AL353710 Genomic DNA No translation available.
AL359204 Genomic DNA No translation available.
AB023203 mRNA Translation: BAA76830.1
BC020576 mRNA Translation: AAH20576.1 Sequence problems.
BC041852 mRNA Translation: AAH41852.1
AK022967 mRNA Translation: BAB14337.1
CCDSiCCDS47983.1 [Q96RL7-4]
CCDS55321.1 [Q96RL7-3]
CCDS6655.1 [Q96RL7-1]
CCDS6656.1 [Q96RL7-2]
RefSeqiNP_001018047.1, NM_001018037.1 [Q96RL7-3]
NP_001018048.1, NM_001018038.2 [Q96RL7-4]
NP_056001.1, NM_015186.3 [Q96RL7-2]
NP_150648.2, NM_033305.2 [Q96RL7-1]

3D structure databases

SMRiQ96RL7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116835, 25 interactors
IntActiQ96RL7, 19 interactors
STRINGi9606.ENSP00000353422

PTM databases

CarbonylDBiQ96RL7
GlyConnecti1889
iPTMnetiQ96RL7
PhosphoSitePlusiQ96RL7

Polymorphism and mutation databases

BioMutaiVPS13A
DMDMi71152975

Proteomic databases

EPDiQ96RL7
jPOSTiQ96RL7
MassIVEiQ96RL7
MaxQBiQ96RL7
PaxDbiQ96RL7
PeptideAtlasiQ96RL7
PRIDEiQ96RL7
ProteomicsDBi77984 [Q96RL7-1]
77985 [Q96RL7-2]
77986 [Q96RL7-3]
77987 [Q96RL7-4]

Genome annotation databases

EnsembliENST00000360280; ENSP00000353422; ENSG00000197969 [Q96RL7-1]
ENST00000376636; ENSP00000365823; ENSG00000197969 [Q96RL7-3]
ENST00000643348; ENSP00000493592; ENSG00000197969 [Q96RL7-2]
ENST00000645632; ENSP00000496361; ENSG00000197969 [Q96RL7-4]
GeneIDi23230
KEGGihsa:23230
UCSCiuc004akp.5 human [Q96RL7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23230
DisGeNETi23230
EuPathDBiHostDB:ENSG00000197969.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
VPS13A
GeneReviewsiVPS13A
HGNCiHGNC:1908 VPS13A
HPAiHPA021652
HPA021662
MalaCardsiVPS13A
MIMi200150 phenotype
605978 gene
neXtProtiNX_Q96RL7
OpenTargetsiENSG00000197969
Orphaneti2388 Choreoacanthocytosis
PharmGKBiPA26444

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1809 Eukaryota
COG5043 LUCA
GeneTreeiENSGT00950000183083
InParanoidiQ96RL7
KOiK19525
OMAiHYHAREW
OrthoDBi4159at2759
PhylomeDBiQ96RL7
TreeFamiTF300316

Miscellaneous databases

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

More...
ChiTaRSi
VPS13A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
VPS13A

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

More...
GenomeRNAii
23230
PharosiQ96RL7 Tbio

Protein Ontology

More...
PROi
PR:Q96RL7
RNActiQ96RL7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197969 Expressed in 223 organ(s), highest expression level in intestine
ExpressionAtlasiQ96RL7 baseline and differential
GenevisibleiQ96RL7 HS

Family and domain databases

InterProiView protein in InterPro
IPR015412 Autophagy-rel_C
IPR009543 SHR-BD
IPR026847 VPS13
IPR031645 VPS13_C
IPR031642 VPS13_mid_rpt
IPR026854 VPS13_N
IPR031646 VPS13_N2
PANTHERiPTHR16166 PTHR16166, 1 hit
PfamiView protein in Pfam
PF09333 ATG_C, 1 hit
PF12624 Chorein_N, 1 hit
PF06650 SHR-BD, 1 hit
PF16908 VPS13, 1 hit
PF16909 VPS13_C, 1 hit
PF16910 VPS13_mid_rpt, 2 hits

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 nameiVP13A_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: Q96RL7
Secondary accession number(s): Q5JSX9
, Q5JSY0, Q5VYR5, Q702P4, Q709D0, Q86YF8, Q96S61, Q9H995, Q9Y2J1
<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: March 27, 2002
Last sequence update: July 19, 2005
Last modified: December 11, 2019
This is version 161 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 9
    Human chromosome 9: 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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