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Entry version 127 (18 Sep 2019)
Sequence version 2 (18 Mar 2008)
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Protein

GTPase-activating protein and VPS9 domain-containing protein 1

Gene

GAPVD1

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

Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4 trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells. Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

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

Molecular functionGTPase activation, Guanine-nucleotide releasing factor
Biological processEndocytosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

<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:
GTPase-activating protein and VPS9 domain-containing protein 1
Alternative name(s):
GAPex-5
Rab5-activating protein 6
<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:GAPVD1
Synonyms:GAPEX5, KIAA1521, RAP6
<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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23375 GAPVD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611714 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14C86

<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

Keywords - Cellular componenti

Endosome, Membrane

<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

MalaCards human disease database

More...
MalaCardsi
GAPVD1

Open Targets

More...
OpenTargetsi
ENSG00000165219

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

More...
Orphaneti
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671748

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GAPVD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172046859

<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_00003247711 – 1478GTPase-activating protein and VPS9 domain-containing protein 1Add BLAST1478

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 residuei227PhosphoserineCombined sources1
Modified residuei390PhosphothreonineCombined sources1
Modified residuei458PhosphothreonineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei470PhosphothreonineCombined sources1
Modified residuei566PhosphoserineCombined sources1
Modified residuei569PhosphoserineBy similarity1
Modified residuei742PhosphoserineBy similarity1
Modified residuei746PhosphoserineCombined sources1
Modified residuei757PhosphoserineCombined sources1
Modified residuei762PhosphothreonineCombined sources1
Modified residuei766PhosphoserineCombined sources1
Modified residuei876PhosphoserineCombined sources1
Modified residuei902PhosphoserineCombined sources1
Modified residuei903PhosphoserineCombined sources1
Modified residuei908PhosphoserineBy similarity1
Modified residuei966PhosphoserineCombined sources1
Modified residuei1019PhosphoserineCombined sources1
Modified residuei1046PhosphoserineBy similarity1
Modified residuei1096PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14C86

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14C86

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14C86

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14C86

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

More...
PaxDbi
Q14C86

PeptideAtlas

More...
PeptideAtlasi
Q14C86

PRoteomics IDEntifications database

More...
PRIDEi
Q14C86

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60308 [Q14C86-1]
60309 [Q14C86-2]
60310 [Q14C86-3]
60311 [Q14C86-4]
60312 [Q14C86-5]
60313 [Q14C86-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14C86

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

More...
PhosphoSitePlusi
Q14C86

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q14C86

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165219 Expressed in 238 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14C86 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14C86 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029386
HPA029387

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TRIP10/CIP4 (By similarity).

Interacts with RAB5A.

By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
117568, 62 interactors

Protein interaction database and analysis system

More...
IntActi
Q14C86, 25 interactors

Molecular INTeraction database

More...
MINTi
Q14C86

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000377664

<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
Q14C86

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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini131 – 353Ras-GAPPROSITE-ProRule annotationAdd BLAST223
Domaini1338 – 1478VPS9PROSITE-ProRule annotationAdd BLAST141

<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 GAPVD1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IQ83 Eukaryota
ENOG410XRXX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156611

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14C86

Identification of Orthologs from Complete Genome Data

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OMAi
CISSIMS

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14C86

TreeFam database of animal gene trees

More...
TreeFami
TF105908

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1050.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR041545 DUF5601
IPR001936 RasGAP_dom
IPR008936 Rho_GTPase_activation_prot
IPR003123 VPS9
IPR037191 VPS9_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18151 DUF5601, 1 hit
PF00616 RasGAP, 1 hit
PF02204 VPS9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00167 VPS9, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF109993 SSF109993, 1 hit
SSF48350 SSF48350, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50018 RAS_GTPASE_ACTIV_2, 1 hit
PS51205 VPS9, 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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14C86-1) [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
MVKLDIHTLA HHLKQERLYV NSEKQLIQRL NADVLKTAEK LYRTAWIAKQ
60 70 80 90 100
QRINLDRLII TSAEASPAEC CQHAKILEDT QFVDGYKQLG FQETAYGEFL
110 120 130 140 150
SRLRENPRLI ASSLVAGEKL NQENTQSVIY TVFTSLYGNC IMQEDESYLL
160 170 180 190 200
QVLRYLIEFE LKESDNPRRL LRRGTCAFSI LFKLFSEGLF SAKLFLTATL
210 220 230 240 250
HEPIMQLLVE DEDHLETDPN KLIERFSPSQ QEKLFGEKGS DRFRQKVQEM
260 270 280 290 300
VESNEAKLVA LVNKFIGYLK QNTYCFPHSL RWIVSQMYKT LSCVDRLEVG
310 320 330 340 350
EVRAMCTDLL LACFICPAVV NPEQYGIISD APINEVARFN LMQVGRLLQQ
360 370 380 390 400
LAMTGSEEGD PRTKSSLGKF DKSCVAAFLD VVIGGRAVET PPLSSVNLLE
410 420 430 440 450
GLSRTVVYIT YSQLITLVNF MKSVMSGDQL REDRMALDNL LANLPPAKPG
460 470 480 490 500
KSSSLEMTPY NTPQLSPATT PANKKNRLPI ATRSRSRTNM LMDLHMDHEG
510 520 530 540 550
SSQETIQEVQ PEEVLVISLG TGPQLTPGMM SENEVLNMQL SDGGQGDVPV
560 570 580 590 600
DENKLHGKPD KTLRFSLCSD NLEGISEGPS NRSNSVSSLD LEGESVSELG
610 620 630 640 650
AGPSGSNGVE ALQLLEHEQA TTQDNLDDKL RKFEIRDMMG LTDDRDISET
660 670 680 690 700
VSETWSTDVL GSDFDPNIDE DRLQEIAGAA AENMLGSLLC LPGSGSVLLD
710 720 730 740 750
PCTGSTISET TSEAWSVEVL PSDSEAPDLK QEERLQELES CSGLGSTSDD
760 770 780 790 800
TDVREVSSRP STPGLSVVSG ISATSEDIPN KIEDLRSECS SDFGGKDSVT
810 820 830 840 850
SPDMDEITHG AHQLTSPPSQ SESLLAMFDP LSSHEGASAV VRPKVHYARP
860 870 880 890 900
SHPPPDPPIL EGAVGGNEAR LPNFGSHVLT PAEMEAFKQR HSYPERLVRS
910 920 930 940 950
RSSDIVSSVR RPMSDPSWNR RPGNEERELP PAAAIGATSL VAAPHSSSSS
960 970 980 990 1000
PSKDSSRGET EERKDSDDEK SDRNRPWWRK RFVSAMPKAP IPFRKKEKQE
1010 1020 1030 1040 1050
KDKDDLGPDR FSTLTDDPSP RLSAQAQVAE DILDKYRNAI KRTSPSDGAM
1060 1070 1080 1090 1100
ANYESTGDNH DRDLSSKLLY HSDKEVMGDG ESAHDSPRDE ALQNISADDL
1110 1120 1130 1140 1150
PDSASQAAHP QDSAFSYRDA KKKLRLALCS ADSVAFPVLT HSTRNGLPDH
1160 1170 1180 1190 1200
TDPEDNEIVC FLKVQIAEAI NLQDKNLMAQ LQETMRCVCR FDNRTCRKLL
1210 1220 1230 1240 1250
ASIAEDYRKR APYIAYLTRC RQGLQTTQAH LERLLQRVLR DKEVANRYFT
1260 1270 1280 1290 1300
TVCVRLLLES KEKKIREFIQ DFQKLTAADD KTAQVEDFLQ FLYGAMAQDV
1310 1320 1330 1340 1350
IWQNASEEQL QDAQLAIERS VMNRIFKLAF YPNQDGDILR DQVLHEHIQR
1360 1370 1380 1390 1400
LSKVVTANHR ALQIPEVYLR EAPWPSAQSE IRTISAYKTP RDKVQCILRM
1410 1420 1430 1440 1450
CSTIMNLLSL ANEDSVPGAD DFVPVLVFVL IKANPPCLLS TVQYISSFYA
1460 1470
SCLSGEESYW WMQFTAAVEF IKTIDDRK
Length:1,478
Mass (Da):164,980
Last modified:March 18, 2008 - 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:iDD429B0EB207276C
GO
Isoform 2 (identifier: Q14C86-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1057-1074: Missing.

Show »
Length:1,460
Mass (Da):162,898
Checksum:iFC321A20FB94016F
GO
Isoform 3 (identifier: Q14C86-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     989-1015: Missing.
     1057-1074: Missing.

Show »
Length:1,433
Mass (Da):159,755
Checksum:iC0F51AB2B99F64A5
GO
Isoform 4 (identifier: Q14C86-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     557-577: Missing.
     1057-1074: Missing.

Show »
Length:1,439
Mass (Da):160,606
Checksum:iD4B3957383169E05
GO
Isoform 5 (identifier: Q14C86-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     810-835: Missing.

Show »
Length:1,452
Mass (Da):162,231
Checksum:iD139984862F731BB
GO
Isoform 6 (identifier: Q14C86-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     810-810: G → DFLYILQPKQHFQHIEAEADMRIQLSSS
     1057-1074: Missing.

Show »
Length:1,487
Mass (Da):166,168
Checksum:i9065582BC51473FB
GO

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

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y4E7H0Y4E7_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
830Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W9S7F8W9S7_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
1,412Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IZ08C9IZ08_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
988Annotation 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>
H0Y7I9H0Y7I9_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
837Annotation 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>
A0A0A0MQV8A0A0A0MQV8_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
629Annotation 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>
B4DGD8B4DGD8_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
756Annotation 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>
B0QZ65B0QZ65_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
497Annotation 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>
C9IZX9C9IZX9_HUMAN
GTPase-activating protein and VPS9 ...
GAPVD1
117Annotation 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 AAH21119 differs from that shown. Reason: Frameshift at position 742.Curated
The sequence AAH21119 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA90959 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA90959 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA96045 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 conflicti294V → E in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti306C → R in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti352A → T in BAA90959 (PubMed:14702039).Curated1
Sequence conflicti366S → C in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti419N → D in BAA90959 (PubMed:14702039).Curated1
Sequence conflicti455L → F in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti471P → L in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti530M → I in AAH21119 (PubMed:15489334).Curated1
Sequence conflicti532E → G in BAA90959 (PubMed:14702039).Curated1
Sequence conflicti741C → F in AAH21119 (PubMed:15489334).Curated1
Sequence conflicti902S → G in BAA90959 (PubMed:14702039).Curated1
Sequence conflicti931P → S in AAH13635 (PubMed:15489334).Curated1
Sequence conflicti1037R → W in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti1162L → S in ABB71126 (PubMed:16410077).Curated1
Sequence conflicti1425V → L in ABB71126 (PubMed:16410077).Curated1

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_032358557 – 577Missing in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_032359810 – 835Missing in isoform 5. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_032360810G → DFLYILQPKQHFQHIEAEAD MRIQLSSS in isoform 6. 1 Publication1
Alternative sequenceiVSP_032361989 – 1015Missing in isoform 3. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_0323621057 – 1074Missing in isoform 2, isoform 3, isoform 4 and isoform 6. 3 PublicationsAdd BLAST18

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
DQ233254 mRNA Translation: ABB71126.1
AB040954 mRNA Translation: BAA96045.3 Different initiation.
AL354710 Genomic DNA No translation available.
AL627223 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87622.1
CH471090 Genomic DNA Translation: EAW87623.1
BC013635 mRNA Translation: AAH13635.1
BC021119 mRNA Translation: AAH21119.1 Sequence problems.
BC114937 mRNA Translation: AAI14938.1
BC114962 mRNA Translation: AAI14963.1
AK000126 mRNA Translation: BAA90959.1 Sequence problems.
AL080196 mRNA Translation: CAB45770.1
AL834325 mRNA Translation: CAD38993.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35138.1 [Q14C86-6]
CCDS65130.1 [Q14C86-4]
CCDS65131.1 [Q14C86-2]
CCDS65132.1 [Q14C86-1]
CCDS83414.1 [Q14C86-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
T12506

NCBI Reference Sequences

More...
RefSeqi
NP_001269608.1, NM_001282679.1 [Q14C86-1]
NP_001269609.1, NM_001282680.1 [Q14C86-2]
NP_001269610.1, NM_001282681.1 [Q14C86-4]
NP_001317707.1, NM_001330778.1 [Q14C86-3]
NP_056450.2, NM_015635.3 [Q14C86-6]
XP_005251958.1, XM_005251901.3
XP_005251961.1, XM_005251904.3 [Q14C86-3]
XP_006717107.1, XM_006717044.3
XP_016870090.1, XM_017014601.1
XP_016870091.1, XM_017014602.1
XP_016870092.1, XM_017014603.1
XP_016870093.1, XM_017014604.1
XP_016870095.1, XM_017014606.1 [Q14C86-4]
XP_016870096.1, XM_017014607.1
XP_016870097.1, XM_017014608.1
XP_016870098.1, XM_017014609.1 [Q14C86-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000297933; ENSP00000297933; ENSG00000165219 [Q14C86-2]
ENST00000312123; ENSP00000309582; ENSG00000165219 [Q14C86-4]
ENST00000394104; ENSP00000377664; ENSG00000165219 [Q14C86-1]
ENST00000394105; ENSP00000377665; ENSG00000165219 [Q14C86-6]
ENST00000470056; ENSP00000419767; ENSG00000165219 [Q14C86-3]
ENST00000495955; ENSP00000419063; ENSG00000165219 [Q14C86-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26130

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26130

UCSC genome browser

More...
UCSCi
uc004bpq.5 human [Q14C86-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
DQ233254 mRNA Translation: ABB71126.1
AB040954 mRNA Translation: BAA96045.3 Different initiation.
AL354710 Genomic DNA No translation available.
AL627223 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87622.1
CH471090 Genomic DNA Translation: EAW87623.1
BC013635 mRNA Translation: AAH13635.1
BC021119 mRNA Translation: AAH21119.1 Sequence problems.
BC114937 mRNA Translation: AAI14938.1
BC114962 mRNA Translation: AAI14963.1
AK000126 mRNA Translation: BAA90959.1 Sequence problems.
AL080196 mRNA Translation: CAB45770.1
AL834325 mRNA Translation: CAD38993.1
CCDSiCCDS35138.1 [Q14C86-6]
CCDS65130.1 [Q14C86-4]
CCDS65131.1 [Q14C86-2]
CCDS65132.1 [Q14C86-1]
CCDS83414.1 [Q14C86-3]
PIRiT12506
RefSeqiNP_001269608.1, NM_001282679.1 [Q14C86-1]
NP_001269609.1, NM_001282680.1 [Q14C86-2]
NP_001269610.1, NM_001282681.1 [Q14C86-4]
NP_001317707.1, NM_001330778.1 [Q14C86-3]
NP_056450.2, NM_015635.3 [Q14C86-6]
XP_005251958.1, XM_005251901.3
XP_005251961.1, XM_005251904.3 [Q14C86-3]
XP_006717107.1, XM_006717044.3
XP_016870090.1, XM_017014601.1
XP_016870091.1, XM_017014602.1
XP_016870092.1, XM_017014603.1
XP_016870093.1, XM_017014604.1
XP_016870095.1, XM_017014606.1 [Q14C86-4]
XP_016870096.1, XM_017014607.1
XP_016870097.1, XM_017014608.1
XP_016870098.1, XM_017014609.1 [Q14C86-3]

3D structure databases

SMRiQ14C86
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117568, 62 interactors
IntActiQ14C86, 25 interactors
MINTiQ14C86
STRINGi9606.ENSP00000377664

PTM databases

iPTMnetiQ14C86
PhosphoSitePlusiQ14C86

Polymorphism and mutation databases

BioMutaiGAPVD1
DMDMi172046859

Proteomic databases

EPDiQ14C86
jPOSTiQ14C86
MassIVEiQ14C86
MaxQBiQ14C86
PaxDbiQ14C86
PeptideAtlasiQ14C86
PRIDEiQ14C86
ProteomicsDBi60308 [Q14C86-1]
60309 [Q14C86-2]
60310 [Q14C86-3]
60311 [Q14C86-4]
60312 [Q14C86-5]
60313 [Q14C86-6]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297933; ENSP00000297933; ENSG00000165219 [Q14C86-2]
ENST00000312123; ENSP00000309582; ENSG00000165219 [Q14C86-4]
ENST00000394104; ENSP00000377664; ENSG00000165219 [Q14C86-1]
ENST00000394105; ENSP00000377665; ENSG00000165219 [Q14C86-6]
ENST00000470056; ENSP00000419767; ENSG00000165219 [Q14C86-3]
ENST00000495955; ENSP00000419063; ENSG00000165219 [Q14C86-1]
GeneIDi26130
KEGGihsa:26130
UCSCiuc004bpq.5 human [Q14C86-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26130

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GAPVD1
HGNCiHGNC:23375 GAPVD1
HPAiHPA029386
HPA029387
MalaCardsiGAPVD1
MIMi611714 gene
neXtProtiNX_Q14C86
OpenTargetsiENSG00000165219
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
PharmGKBiPA142671748

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IQ83 Eukaryota
ENOG410XRXX LUCA
GeneTreeiENSGT00940000156611
InParanoidiQ14C86
OMAiCISSIMS
PhylomeDBiQ14C86
TreeFamiTF105908

Enzyme and pathway databases

ReactomeiR-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

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

More...
ChiTaRSi
GAPVD1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GAPVD1

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

More...
GenomeRNAii
26130

Pharos

More...
Pharosi
Q14C86
PMAP-CutDBiQ14C86

Protein Ontology

More...
PROi
PR:Q14C86

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165219 Expressed in 238 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ14C86 baseline and differential
GenevisibleiQ14C86 HS

Family and domain databases

Gene3Di1.20.1050.80, 1 hit
InterProiView protein in InterPro
IPR041545 DUF5601
IPR001936 RasGAP_dom
IPR008936 Rho_GTPase_activation_prot
IPR003123 VPS9
IPR037191 VPS9_dom_sf
PfamiView protein in Pfam
PF18151 DUF5601, 1 hit
PF00616 RasGAP, 1 hit
PF02204 VPS9, 1 hit
SMARTiView protein in SMART
SM00167 VPS9, 1 hit
SUPFAMiSSF109993 SSF109993, 1 hit
SSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50018 RAS_GTPASE_ACTIV_2, 1 hit
PS51205 VPS9, 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 nameiGAPD1_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: Q14C86
Secondary accession number(s): A8MYK3
, B0QZ62, B0QZ63, B0QZ64, Q14C76, Q2Q1W1, Q8ND92, Q8WU86, Q96CZ4, Q9NXQ1, Q9P207, Q9Y4N0
<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 18, 2008
Last sequence update: March 18, 2008
Last modified: September 18, 2019
This is version 127 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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