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    VAC14 Vac14, PIKFYVE complex component [ Homo sapiens (human) ]

    Gene ID: 55697, updated on 10-Dec-2017
    Official Symbol
    VAC14provided by HGNC
    Official Full Name
    Vac14, PIKFYVE complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:25507
    See related
    Ensembl:ENSG00000103043 MIM:604632; Vega:OTTHUMG00000137583
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRX; TAX1BP2; ArPIKfyve
    Summary
    This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in lymph node (RPKM 2.8), thyroid (RPKM 2.5) and 25 other tissues See more
    Orthologs
    Location:
    16q22.1-q22.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (70687439..70801169, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70721342..70835074, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene interleukin 34 Neighboring gene MTSS1L, I-BAR domain containing Neighboring gene VAC14 antisense RNA 1 Neighboring gene transfer RNA-Gly (GCC) 3-1 Neighboring gene transfer RNA-Gly (GCC) 2-4 Neighboring gene transfer RNA-Gly (GCC) 5-1 Neighboring gene transfer RNA-Gly (GCC) 2-5 Neighboring gene RNA, U6atac small nuclear 25, pseudogene Neighboring gene HYDIN, axonemal central pair apparatus protein Neighboring gene uncharacterized LOC102723786 Neighboring gene cap methyltransferase 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • PI Metabolism, organism-specific biosystem (from REACTOME)
      PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Synthesis of PIPs at the Golgi membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the Golgi membrane, organism-specific biosystemAt the Golgi membrane, phosphatidylinositol 4-phosphate (PI4P) is primarily generated from phosphorylation of phosphatidylinositol (PI). Other phosphoinositides are also generated by the action of v...
    • Synthesis of PIPs at the early endosome membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the early endosome membrane, organism-specific biosystemAt the early endosome membrane, phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) is generated in two steps from phosphatidylinositol 3,4-bisphosphate PI(3,4)P2 by the action of various kinases and p...
    • Synthesis of PIPs at the late endosome membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the late endosome membrane, organism-specific biosystemAt the late endosome membrane, the primary event is the dephosphorylation of the phosphoinositide phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) to phosphatidylinositol 3-phosphate (PI3P) and phos...
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10305, FLJ36622, FLJ46582, MGC149815, MGC149816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    regulation of lipid kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    PAS complex IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    protein VAC14 homolog
    Names
    Tax1 (human T-cell leukemia virus type I) binding protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054902.1 RefSeqGene

      Range
      4994..118731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351157.1NP_001338086.1  protein VAC14 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC020763, AC027281, AK307766, AL137396, DA773737
      Conserved Domains (1) summary
      pfam11916
      Location:308483
      Vac14_Fig4_bd; Vacuolar protein 14 C-terminal Fig4p binding
    2. NM_018052.4NP_060522.3  protein VAC14 homolog isoform 1

      See identical proteins and their annotated locations for NP_060522.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK056433, AL137396, DA773737
      Consensus CDS
      CCDS10896.1
      UniProtKB/Swiss-Prot
      Q08AM6
      Related
      ENSP00000261776.5, OTTHUMP00000174908, ENST00000261776.9
      Conserved Domains (3) summary
      sd00044
      Location:94122
      HEAT; HEAT repeat [structural motif]
      pfam11916
      Location:542717
      Vac14_Fig4_bd; Vacuolar protein 14 C-terminal Fig4p binding
      pfam12755
      Location:67163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      70687439..70801169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256038.3XP_005256095.1  protein VAC14 homolog isoform X1

      Conserved Domains (3) summary
      pfam11916
      Location:543717
      Vac14_Fig4_bd; Vacuolar protein 14 C-terminal Fig4p binding
      pfam12755
      Location:67163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:94122
      HEAT; HEAT repeat [structural motif]
    2. XM_017023442.1XP_016878931.1  protein VAC14 homolog isoform X6

    3. XM_017023441.1XP_016878930.1  protein VAC14 homolog isoform X5

    4. XM_011523225.2XP_011521527.1  protein VAC14 homolog isoform X7

      Conserved Domains (2) summary
      pfam12755
      Location:67163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:5378
      HEAT; HEAT repeat [structural motif]
    5. XM_005256041.3XP_005256098.2  protein VAC14 homolog isoform X3

      Conserved Domains (2) summary
      pfam12755
      Location:67163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:5378
      HEAT; HEAT repeat [structural motif]
    6. XM_011523223.2XP_011521525.1  protein VAC14 homolog isoform X2

      Conserved Domains (2) summary
      pfam12755
      Location:67163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:5378
      HEAT; HEAT repeat [structural motif]
    7. XM_011523224.2XP_011521526.1  protein VAC14 homolog isoform X4

      Conserved Domains (2) summary
      pfam12755
      Location:67163
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:94122
      HEAT; HEAT repeat [structural motif]

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      72128694..72242416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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