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UniProtKB - Q08AM6 (VAC14_HUMAN)

Entry version 132 (22 Apr 2020)
Sequence version 1 (31 Oct 2006)
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Protein

Protein VAC14 homolog

Gene

VAC14

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

The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 5-phosphate (PtdIns5P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 processHost-virus interaction

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000103043-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q08AM6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein VAC14 homolog
Alternative name(s):
Tax1-binding protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:VAC14
Synonyms:TAX1BP2, TRX
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25507 VAC14

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604632 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q08AM6

<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

Endoplasmic reticulum, Endosome, Membrane, Microsome

<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

Striatonigral degeneration, childhood-onset (SNDC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI.
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_077031424W → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs762388639EnsemblClinVar.1
Natural variantiVAR_077032582A → S in SNDC. 1 PublicationCorresponds to variant dbSNP:rs749094914EnsemblClinVar.1
Natural variantiVAR_077033583S → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs879255645EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi773G → A: Reduces interaction with NOS1. 1 Publication1
Mutagenesisi774D → A: Reduces interaction with NOS1. 1 Publication1
Mutagenesisi776L → A: Reduces interaction with NOS1. 1 Publication1
Mutagenesisi777D → A: Abolishes interaction with NOS1. 1 Publication1
Mutagenesisi780 – 782VVL → AAA: Reduces interaction with NOS1. 1 Publication3
Mutagenesisi782L → G: Reduces interaction with NOS1. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		55697

MalaCards human disease database

More...MalaCardsi		VAC14
MIMi617054 phenotype

Open Targets

More...OpenTargetsi		ENSG00000103043

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

More...Orphaneti		497906 Childhood-onset basal ganglia degeneration syndrome
3472 Yunis-Varon syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670633

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q08AM6 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		VAC14

Domain mapping of disease mutations (DMDM)

More...DMDMi		121940040

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003004851 – 782Protein VAC14 homologAdd BLAST782

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 residuei1N-acetylmethionineCombined sources1
Modified residuei11PhosphothreonineCombined sources1
Modified residuei499PhosphothreonineCombined sources1
Modified residuei517PhosphoserineCombined sources1
Modified residuei743PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q08AM6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q08AM6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q08AM6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q08AM6

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

More...PaxDbi		Q08AM6

PeptideAtlas

More...PeptideAtlasi		Q08AM6

PRoteomics IDEntifications database

More...PRIDEi		Q08AM6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3649
58681 [Q08AM6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q08AM6

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q08AM6

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

More...PhosphoSitePlusi		Q08AM6

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q08AM6

<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

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000103043 Expressed in anterior cingulate cortex and 183 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q08AM6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q08AM6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000103043 Low tissue specificity

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms homooligomers.

Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold.

Interacts with NOS1.

3 Publications

(Microbial infection) Interacts with HTLV-1 Tax.

1 Publication

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

Q08AM6
With#Exp.IntAct
itself5EBI-2107455,EBI-2107455
ABHD11 - isoform 4 [Q8NFV4-4]3EBI-2107455,EBI-12318443
ACSS1 [Q9NUB1]6EBI-2107455,EBI-10313831
AMT - isoform 4 [P48728-4]3EBI-2107455,EBI-14394829
ARID5A [Q03989]3EBI-2107455,EBI-948603
ASB13 [Q8WXK3]6EBI-2107455,EBI-707573
ASB13 - isoform 2 [Q8WXK3-2]3EBI-2107455,EBI-12015080
BCL2L1 [A0A0S2Z3D2]3EBI-2107455,EBI-16431449
BHLHE40 [O14503]6EBI-2107455,EBI-711810
C11orf54 [Q9H0W9]4EBI-2107455,EBI-740204
C11orf54 - isoform 3 [Q9H0W9-3]3EBI-2107455,EBI-12108466
C19orf54 - isoform 3 [Q5BKX5-3]3EBI-2107455,EBI-11976299
C2CD6 [Q53TS8]3EBI-2107455,EBI-739879
C4orf33 [Q8N1A6]8EBI-2107455,EBI-10264911
CASP1 [P29466]4EBI-2107455,EBI-516667
CASP1 - isoform Gamma [P29466-3]3EBI-2107455,EBI-12248206
CCDC103 [Q8IW40]8EBI-2107455,EBI-10261970
CD209 [Q9NNX6]4EBI-2107455,EBI-9257341
CD209 - isoform 10 [Q9NNX6-10]3EBI-2107455,EBI-12300031
CDRT4 [Q8N9R6]7EBI-2107455,EBI-10176618
COL8A1 [P27658]7EBI-2107455,EBI-747133
CRYBA1 [P05813]3EBI-2107455,EBI-7043337
CRYBA2 [P53672]3EBI-2107455,EBI-750444
EEF1AKMT3 [Q96AZ1]3EBI-2107455,EBI-12108304
EHHADH [Q08426]3EBI-2107455,EBI-2339219
EIF2S1 [P05198]3EBI-2107455,EBI-1056162
EIF6 [P56537]3EBI-2107455,EBI-372243
FAM50B [Q9Y247]3EBI-2107455,EBI-742802
FIG4 [Q92562]5EBI-2107455,EBI-4290773
FNDC3B - isoform 3 [Q53EP0-3]3EBI-2107455,EBI-10242151
GABPB2 [Q8TAK5]3EBI-2107455,EBI-8468945
GALT [A0A0S2Z4I0]3EBI-2107455,EBI-16434744
GINS3 [Q9BRX5]6EBI-2107455,EBI-2857315
GINS3 - isoform 3 [Q9BRX5-3]3EBI-2107455,EBI-16436971
GLIS2 [Q9BZE0]3EBI-2107455,EBI-7251368
GNB1 [P62873]3EBI-2107455,EBI-357130
GTF3C2 - isoform 2 [Q8WUA4-2]3EBI-2107455,EBI-11957962
HDHD3 [Q9BSH5]3EBI-2107455,EBI-745201
HEL-S-277 [V9HW53]5EBI-2107455,EBI-10330115
HNF1B [P35680]3EBI-2107455,EBI-2798841
INTS11 [Q5TA45]3EBI-2107455,EBI-748258
JMJD7 [P0C870]3EBI-2107455,EBI-9090173
KRT82 [Q9NSB4]3EBI-2107455,EBI-1045341
KRTAP15-1 [Q3LI76]3EBI-2107455,EBI-11992140
KRTAP19-3 [Q7Z4W3]3EBI-2107455,EBI-12020132
KRTAP19-5 [Q3LI72]6EBI-2107455,EBI-1048945
KRTAP19-7 [Q3SYF9]6EBI-2107455,EBI-10241353
KRTAP6-1 [Q3LI64]3EBI-2107455,EBI-12111050
KRTAP6-2 [Q3LI66]3EBI-2107455,EBI-11962084
KYAT1 [Q16773]4EBI-2107455,EBI-10238309
LASP1 - isoform 2 [Q14847-2]3EBI-2107455,EBI-9088686
LINC00518 [Q8N0U6]3EBI-2107455,EBI-10264791
LPAL2 [Q16609]3EBI-2107455,EBI-10238012
MEOX2 [Q6FHY5]3EBI-2107455,EBI-16439278
METTL15 - isoform 4 [A6NJ78-4]3EBI-2107455,EBI-10174029
MPPED2 [Q15777]6EBI-2107455,EBI-2350461
MTMR9 [Q96QG7]3EBI-2107455,EBI-744593
MYOZ1 [Q9NP98]3EBI-2107455,EBI-744402
NBEAL2 [Q6ZNJ1]8EBI-2107455,EBI-2862306
NDUFAB1 [O14561]3EBI-2107455,EBI-1246261
NGB [Q9NPG2]6EBI-2107455,EBI-10311409
NOS1 [P29475]5EBI-2107455,EBI-7164065
OIT3 [Q8WWZ8]3EBI-2107455,EBI-10277776
OTOS [Q8NHW6]3EBI-2107455,EBI-12038159
PBLD [P30039]3EBI-2107455,EBI-750589
PCMTD2 [Q6PIM4]3EBI-2107455,EBI-10253759
PELI1 [Q96FA3]3EBI-2107455,EBI-448369
PHF1 [O43189]3EBI-2107455,EBI-530034
PHYKPL [Q8IUZ5]4EBI-2107455,EBI-751947
PIKFYVE [Q9Y2I7]5EBI-2107455,EBI-6138650
PPP2CA [B3KUN1]5EBI-2107455,EBI-10175948
PPP2CA [P67775]3EBI-2107455,EBI-712311
PPP6C [O00743]3EBI-2107455,EBI-359751
PRADC1 [Q9BSG0]3EBI-2107455,EBI-10297527
PRR13 [Q9NZ81]6EBI-2107455,EBI-740924
PRR20C [P86479]3EBI-2107455,EBI-10172814
PRR20D [P86480]3EBI-2107455,EBI-12754095
RBFOX2 [O43251]4EBI-2107455,EBI-746056
RHBDL1 [O75783]3EBI-2107455,EBI-12104986
RHOXF2 [Q9BQY4]6EBI-2107455,EBI-372094
RIPPLY1 [Q0D2K3]3EBI-2107455,EBI-10226430
RNASEH2C [Q8TDP1]3EBI-2107455,EBI-9027335
RSKR [Q96LW2]3EBI-2107455,EBI-1054572
SIGLEC5 [O15389]6EBI-2107455,EBI-750381
SMUG1 [Q53HV7]4EBI-2107455,EBI-749970
SMUG1 - isoform 2 [Q53HV7-2]3EBI-2107455,EBI-12275818
SNF8 [Q96H20]4EBI-2107455,EBI-747719
SPRYD7 [Q5W111]4EBI-2107455,EBI-10248098
SPRYD7 - isoform 2 [Q5W111-2]3EBI-2107455,EBI-12408727
TCEANC [Q8N8B7]3EBI-2107455,EBI-954696
TCEANC - isoform 2 [Q8N8B7-2]3EBI-2107455,EBI-11955057
TEX37 [Q96LM6]3EBI-2107455,EBI-743976
TP53BP1 [Q12888]6EBI-2107455,EBI-396540
UFSP1 [Q6NVU6]3EBI-2107455,EBI-12068150
VENTX [O95231]3EBI-2107455,EBI-10191303
VHLL [Q6RSH7]3EBI-2107455,EBI-10254232
WDR83 [Q9BRX9]3EBI-2107455,EBI-7705033
WDYHV1 [Q96HA8]5EBI-2107455,EBI-741158
WRAP53 [Q9BUR4]3EBI-2107455,EBI-2563542
ZBTB49 [Q6ZSB9]3EBI-2107455,EBI-2859943
ZCWPW1 [A0A0S2Z6A9]3EBI-2107455,EBI-16429747
ZNF34 [Q8IZ26]4EBI-2107455,EBI-10264496
ZNF720 [Q7Z2F6]3EBI-2107455,EBI-2796279

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120822, 103 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q08AM6

Protein interaction database and analysis system

More...IntActi		Q08AM6, 133 interactors

Molecular INTeraction database

More...MINTi		Q08AM6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000261776

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q08AM6 protein

<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>Repeati5 – 42HEAT 1Add BLAST38
Repeati89 – 126HEAT 2Add BLAST38
Repeati171 – 208HEAT 3Add BLAST38
Repeati212 – 249HEAT 4Add BLAST38
Repeati438 – 475HEAT 5Add BLAST38
Repeati560 – 598HEAT 6Add BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni773 – 777Mediates interaction with the PDZ domain of NOS15

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal domain (residues 523-782) mediates homomeric interactions and is necessary for the formation and maintenance of the PI(3,5)P2 regulatory complex.1 Publication

<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 VAC14 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0212 Eukaryota
ENOG410XP6E LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000008385

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_007740_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q08AM6

KEGG Orthology (KO)

More...KOi		K15305

Identification of Orthologs from Complete Genome Data

More...OMAi		EHEETRV

Database of Orthologous Groups

More...OrthoDBi		306227at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q08AM6

TreeFam database of animal gene trees

More...TreeFami		TF343690

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026825 Vac14
IPR032878 Vac14_Fab1-bd
IPR021841 VAC14_Fig4p-bd

The PANTHER Classification System

More...PANTHERi		PTHR16023 PTHR16023, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12755 Vac14_Fab1_bd, 1 hit
PF11916 Vac14_Fig4_bd, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q08AM6-1) [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
MNPEKDFAPL TPNIVRALND KLYEKRKVAA LEIEKLVREF VAQNNTVQIK 
        60         70         80         90        100
HVIQTLSQEF ALSQHPHSRK GGLIGLAACS IALGKDSGLY LKELIEPVLT 
       110        120        130        140        150
CFNDADSRLR YYACEALYNI VKVARGAVLP HFNVLFDGLS KLAADPDPNV 
       160        170        180        190        200
KSGSELLDRL LKDIVTESNK FDLVSFIPLL RERIYSNNQY ARQFIISWIL 
       210        220        230        240        250
VLESVPDINL LDYLPEILDG LFQILGDNGK EIRKMCEVVL GEFLKEIKKN 
       260        270        280        290        300
PSSVKFAEMA NILVIHCQTT DDLIQLTAMC WMREFIQLAG RVMLPYSSGI 
       310        320        330        340        350
LTAVLPCLAY DDRKKSIKEV ANVCNQSLMK LVTPEDDELD ELRPGQRQAE 
       360        370        380        390        400
PTPDDALPKQ EGTASGGPDG SCDSSFSSGI SVFTAASTER APVTLHLDGI 
       410        420        430        440        450
VQVLNCHLSD TAIGMMTRIA VLKWLYHLYI KTPRKMFRHT DSLFPILLQT 
       460        470        480        490        500
LSDESDEVIL KDLEVLAEIA SSPAGQTDDP GPLDGPDLQA SHSELQVPTP 
       510        520        530        540        550
GRAGLLNTSG TKGLECSPST PTMNSYFYKF MINLLKRFSS ERKLLEVRGP 
       560        570        580        590        600
FIIRQLCLLL NAENIFHSMA DILLREEDLK FASTMVHALN TILLTSTELF 
       610        620        630        640        650
QLRNQLKDLK TLESQNLFCC LYRSWCHNPV TTVSLCFLTQ NYRHAYDLIQ 
       660        670        680        690        700
KFGDLEVTVD FLAEVDKLVQ LIECPIFTYL RLQLLDVKNN PYLIKALYGL 
       710        720        730        740        750
LMLLPQSSAF QLLSHRLQCV PNPELLQTED SLKAAPKSQK ADSPSIDYAE 
       760        770        780 
LLQHFEKVQN KHLEVRHQRS GRGDHLDRRV VL
Length:782
Mass (Da):87,973
Last modified:October 31, 2006 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB39AC1F4D619570F
GO
Isoform 2 (identifier: Q08AM6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-568: Missing.

Show »
Length:214
Mass (Da):24,783
Checksum:iE438C0F3365F70AB
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQD9H3BQD9_HUMAN
Protein VAC14 homolog
VAC14
260Annotation 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>
A0A087WT26A0A087WT26_HUMAN
Protein VAC14 homolog
VAC14
185Annotation 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>
H3BUU8H3BUU8_HUMAN
Protein VAC14 homolog
VAC14
201Annotation 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>
H3BN23H3BN23_HUMAN
Protein VAC14 homolog
VAC14
40Annotation 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>
J3QLC3J3QLC3_HUMAN
Protein VAC14 homolog
VAC14
17Annotation 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 AAB03813 differs from that shown. Unknown C-terminal region.Curated
The sequence BAB15145 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 conflicti257A → P in AAB03813 (PubMed:8611628).Curated1
Sequence conflicti263L → P in AAB03813 (PubMed:8611628).Curated1
Sequence conflicti352T → A in CAG33624 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077031424W → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs762388639EnsemblClinVar.1
Natural variantiVAR_077032582A → S in SNDC. 1 PublicationCorresponds to variant dbSNP:rs749094914EnsemblClinVar.1
Natural variantiVAR_077033583S → L in SNDC. 1 PublicationCorresponds to variant dbSNP:rs879255645EnsemblClinVar.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_0560971 – 568Missing in isoform 2. 1 PublicationAdd BLAST568

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
AK025479 mRNA Translation: BAB15145.1 Different initiation.
AK056433 mRNA Translation: BAG51707.1
AK093941 mRNA Translation: BAG52790.1
AC020763 Genomic DNA No translation available.
AC027281 Genomic DNA No translation available.
BC000536 mRNA Translation: AAH00536.2
BC007214 mRNA Translation: AAH07214.2
BC125108 mRNA Translation: AAI25109.1
BC125109 mRNA Translation: AAI25110.1
U25801 mRNA Translation: AAB03813.1 Sequence problems.
CR457343 mRNA Translation: CAG33624.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10896.1 [Q08AM6-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S68091

NCBI Reference Sequences

More...RefSeqi		NP_060522.3, NM_018052.3 [Q08AM6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261776; ENSP00000261776; ENSG00000103043 [Q08AM6-1]
ENST00000536184; ENSP00000439284; ENSG00000103043 [Q08AM6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55697

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55697

UCSC genome browser

More...UCSCi		uc002ezm.4 human [Q08AM6-1]

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
AK025479 mRNA Translation: BAB15145.1 Different initiation.
AK056433 mRNA Translation: BAG51707.1
AK093941 mRNA Translation: BAG52790.1
AC020763 Genomic DNA No translation available.
AC027281 Genomic DNA No translation available.
BC000536 mRNA Translation: AAH00536.2
BC007214 mRNA Translation: AAH07214.2
BC125108 mRNA Translation: AAI25109.1
BC125109 mRNA Translation: AAI25110.1
U25801 mRNA Translation: AAB03813.1 Sequence problems.
CR457343 mRNA Translation: CAG33624.1
CCDSiCCDS10896.1 [Q08AM6-1]
PIRiS68091
RefSeqiNP_060522.3, NM_018052.3 [Q08AM6-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi120822, 103 interactors
CORUMiQ08AM6
IntActiQ08AM6, 133 interactors
MINTiQ08AM6
STRINGi9606.ENSP00000261776

PTM databases

iPTMnetiQ08AM6
MetOSiteiQ08AM6
PhosphoSitePlusiQ08AM6
SwissPalmiQ08AM6

Polymorphism and mutation databases

BioMutaiVAC14
DMDMi121940040

Proteomic databases

EPDiQ08AM6
jPOSTiQ08AM6
MassIVEiQ08AM6
MaxQBiQ08AM6
PaxDbiQ08AM6
PeptideAtlasiQ08AM6
PRIDEiQ08AM6
ProteomicsDBi3649
58681 [Q08AM6-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16467 90 antibodies

Genome annotation databases

EnsembliENST00000261776; ENSP00000261776; ENSG00000103043 [Q08AM6-1]
ENST00000536184; ENSP00000439284; ENSG00000103043 [Q08AM6-2]
GeneIDi55697
KEGGihsa:55697
UCSCiuc002ezm.4 human [Q08AM6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55697
DisGeNETi55697

GeneCards: human genes, protein and diseases

More...GeneCardsi		VAC14
HGNCiHGNC:25507 VAC14
HPAiENSG00000103043 Low tissue specificity
MalaCardsiVAC14
MIMi604632 gene
617054 phenotype
neXtProtiNX_Q08AM6
OpenTargetsiENSG00000103043
Orphaneti497906 Childhood-onset basal ganglia degeneration syndrome
3472 Yunis-Varon syndrome
PharmGKBiPA142670633

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0212 Eukaryota
ENOG410XP6E LUCA
GeneTreeiENSGT00390000008385
HOGENOMiCLU_007740_1_0_1
InParanoidiQ08AM6
KOiK15305
OMAiEHEETRV
OrthoDBi306227at2759
PhylomeDBiQ08AM6
TreeFamiTF343690

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000103043-MONOMER
ReactomeiR-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
SIGNORiQ08AM6

Miscellaneous databases

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

More...ChiTaRSi		VAC14 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		VAC14

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

More...GenomeRNAii		55697
PharosiQ08AM6 Tbio

Protein Ontology

More...PROi		PR:Q08AM6
RNActiQ08AM6 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000103043 Expressed in anterior cingulate cortex and 183 other tissues
ExpressionAtlasiQ08AM6 baseline and differential
GenevisibleiQ08AM6 HS

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR026825 Vac14
IPR032878 Vac14_Fab1-bd
IPR021841 VAC14_Fig4p-bd
PANTHERiPTHR16023 PTHR16023, 1 hit
PfamiView protein in Pfam
PF12755 Vac14_Fab1_bd, 1 hit
PF11916 Vac14_Fig4_bd, 1 hit
SUPFAMiSSF48371 SSF48371, 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 nameiVAC14_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: Q08AM6
Secondary accession number(s): B3KPJ5
, B3KSM8, Q13174, Q6IA12, Q7L4Y1, Q9BW96, Q9H6V6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 31, 2006
Last modified: April 22, 2020
This is version 132 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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