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Entry version 123 (13 Feb 2019)
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

  • signaling receptor activity Source: UniProtKB

GO - Biological processi

  • phosphatidylinositol biosynthetic process Source: GO_Central
  • signal transduction Source: UniProtKB
  • viral process Source: UniProtKB-KW

<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

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BioCyci
MetaCyc:ENSG00000103043-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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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_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:
Protein VAC14 homolog
Alternative name(s):
Tax1-binding protein 2
<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:VAC14
Synonyms:TAX1BP2, TRX
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000103043.14

Human Gene Nomenclature Database

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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; 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.
See also OMIM:617054
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_and_biotech_section">'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

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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

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.<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

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EPDi
Q08AM6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q08AM6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q08AM6

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

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PaxDbi
Q08AM6

PeptideAtlas

More...
PeptideAtlasi
Q08AM6

PRoteomics IDEntifications database

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PRIDEi
Q08AM6

ProteomicsDB human proteome resource

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ProteomicsDBi
58681

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q08AM6

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

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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

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Bgeei
ENSG00000103043 Expressed in 184 organ(s), highest expression level in anterior cingulate cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q08AM6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q08AM6 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA027766

<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

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_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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120822, 101 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q08AM6

Protein interaction database and analysis system

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IntActi
Q08AM6, 113 interactors

Molecular INTeraction database

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MINTi
Q08AM6

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261776

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q08AM6

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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>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

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eggNOGi
KOG0212 Eukaryota
ENOG410XP6E LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008385

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG104397

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q08AM6

KEGG Orthology (KO)

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KOi
K15305

Identification of Orthologs from Complete Genome Data

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OMAi
YKHAYDL

Database of Orthologous Groups

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OrthoDBi
306227at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q08AM6

TreeFam database of animal gene trees

More...
TreeFami
TF343690

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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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

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PANTHERi
PTHR16023 PTHR16023, 1 hit

Pfam protein domain database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_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 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.<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 'canonical' 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.

Note: No experimental confirmation available.
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
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>
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>
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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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CCDSi
CCDS10896.1 [Q08AM6-1]

Protein sequence database of the Protein Information Resource

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PIRi
S68091

NCBI Reference Sequences

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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.445061

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
55697

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55697

UCSC genome browser

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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]
UniGeneiHs.445061

3D structure databases

ProteinModelPortaliQ08AM6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120822, 101 interactors
CORUMiQ08AM6
IntActiQ08AM6, 113 interactors
MINTiQ08AM6
STRINGi9606.ENSP00000261776

PTM databases

iPTMnetiQ08AM6
PhosphoSitePlusiQ08AM6
SwissPalmiQ08AM6

Polymorphism and mutation databases

BioMutaiVAC14
DMDMi121940040

Proteomic databases

EPDiQ08AM6
jPOSTiQ08AM6
MaxQBiQ08AM6
PaxDbiQ08AM6
PeptideAtlasiQ08AM6
PRIDEiQ08AM6
ProteomicsDBi58681

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

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CTDi
55697
DisGeNETi55697
EuPathDBiHostDB:ENSG00000103043.14

GeneCards: human genes, protein and diseases

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GeneCardsi
VAC14
HGNCiHGNC:25507 VAC14
HPAiHPA027766
MalaCardsiVAC14
MIMi604632 gene
617054 phenotype
neXtProtiNX_Q08AM6
OpenTargetsiENSG00000103043
Orphaneti497906 Childhood-onset basal ganglia degeneration syndrome
3472 Yunis-Varon syndrome
PharmGKBiPA142670633

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0212 Eukaryota
ENOG410XP6E LUCA
GeneTreeiENSGT00390000008385
HOVERGENiHBG104397
InParanoidiQ08AM6
KOiK15305
OMAiYKHAYDL
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

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ChiTaRSi
VAC14 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
VAC14

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

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GenomeRNAii
55697

Protein Ontology

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PROi
PR:Q08AM6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103043 Expressed in 184 organ(s), highest expression level in anterior cingulate cortex
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

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ProtoNeti
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_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: September 11, 2007
Last sequence update: October 31, 2006
Last modified: February 13, 2019
This is version 123 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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