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

    Gene ID: 55109, updated on 16-Jul-2021

    Summary

    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
    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
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    Genomic context

    See AGGF1 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (77030404..77065234)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76326229..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 zinc finger BED-type containing 3 Neighboring gene small nucleolar RNA, H/ACA box 47 Neighboring gene Sharpr-MPRA regulatory region 15273

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasculogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

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    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
      5020..39850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018046.5NP_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, ENST00000312916.12
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      77030404..77065234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_013303.1: Suppressed sequence

      Description
      NM_013303.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    2. NM_138490.1: Suppressed sequence

      Description
      NM_138490.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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