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

Gene ID: 55109, updated on 11-Sep-2019

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

Genomic context

See AGGF1 in Genome Data Viewer
Location:
5q13.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (77030404..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 zinc finger BED-type containing 3 Neighboring gene small nucleolar RNA, H/ACA box 47 Neighboring gene high mobility group box 1 pseudogene 35

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 BioSystems

  • 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 ...

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
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 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 

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)

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 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.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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