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    AGGF1 angiogenic factor with G-patch and FHA domains 1 [ Homo sapiens (human) ]

    Gene ID: 55109, updated on 23-May-2018
    Official Symbol
    AGGF1provided by HGNC
    Official Full Name
    angiogenic factor with G-patch and FHA domains 1provided by HGNC
    Primary source
    HGNC:HGNC:24684
    See related
    Ensembl:ENSG00000164252 MIM:608464; Vega:OTTHUMG00000102132
    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
    VG5Q; GPATC7; GPATCH7; HSU84971; HUS84971
    Summary
    This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
    Expression
    Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 10.3) and 25 other tissues See more
    Orthologs
    See AGGF1 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (77030385..77065234)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76326210..76361059)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene S100 calcium binding protein Z Neighboring gene RNA, U6atac small nuclear 36, pseudogene Neighboring gene corticotropin releasing hormone binding protein Neighboring gene ZBED3 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 47 Neighboring gene zinc finger BED-type containing 3 Neighboring gene high mobility group box 1 pseudogene 35

    • 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?

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
      Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
    • Signaling by BRAF and RAF fusions, organism-specific biosystem (from REACTOME)
      Signaling by BRAF and RAF fusions, organism-specific biosystemIn addition to the more prevalent point mutations, BRAF and RAF1 are also subject to activation as a result of translocation events that yield truncated or fusion products (Jones et al, 2008; Cin et ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vasculogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    vasculogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    angiogenic factor with G patch and FHA domains 1
    Names
    G patch domain-containing protein 7
    angiogenic factor VG5Q
    vasculogenesis gene on 5q 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_027822.1 RefSeqGene

      Range
      5001..39850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018046.4NP_060516.2  angiogenic factor with G patch and FHA domains 1

      See identical proteins and their annotated locations for NP_060516.2

      Status: REVIEWED

      Source sequence(s)
      AC008581, AI453097, AY500994, BI561566, BX648120, DR157679
      Consensus CDS
      CCDS4035.1
      UniProtKB/Swiss-Prot
      Q8N302
      Related
      ENSP00000316109.7, OTTHUMP00000128327, ENST00000312916.11, OTTHUMT00000219971
      Conserved Domains (4) summary
      COG1716
      Location:422512
      FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
      cd00060
      Location:410516
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd16164
      Location:200253
      OCRE_VG5Q; OCRE domain found in angiogenic factor VG5Q and similar proteins
      cl02611
      Location:620661
      G-patch; G-patch domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      77030385..77065234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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