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    AFP alpha-fetoprotein [ Homo sapiens (human) ]

    Gene ID: 174, updated on 26-Jun-2015
    Official Symbol
    AFPprovided by HGNC
    Official Full Name
    alpha-fetoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:317
    See related
    Ensembl:ENSG00000081051; HPRD:00074; MIM:104150; Vega:OTTHUMG00000130011
    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
    AFPD; FETA; HPAFP
    Summary
    This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    4q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (73423104..73455785)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74301933..74321492)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 17 Neighboring gene uncharacterized LOC102724832 Neighboring gene albumin Neighboring gene hCG1813624 Neighboring gene afamin

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Alpha-fetoprotein deficiency
    MedGen: C1863081 OMIM: 615969 GeneReviews: Not available
    not available
    Alpha-fetoprotein, hereditary persistence of
    MedGen: C1863080 OMIM: 615970 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Human alpha-fetoprotein specifically interacts with HIV-1 gp120/gp41 (Env) and inhibits infection of primary macrophages by macrophage-tropic HIV-1 strains PubMed
    Envelope transmembrane glycoprotein gp41 env Human alpha-fetoprotein specifically interacts with HIV-1 gp120/gp41 (Env) and inhibits infection of primary macrophages by macrophage-tropic HIV-1 strains PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    SMAD protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    ovulation from ovarian follicle IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    progesterone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    alpha-fetoprotein
    Names
    alpha-fetoprotein
    alpha-1-fetoprotein
    alpha-fetoglobulin

    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_023028.1 RefSeqGene

      Range
      5004..24570
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134.2NP_001125.1  alpha-fetoprotein precursor

      See identical proteins and their annotated locations for NP_001125.1

      Status: REVIEWED

      Source sequence(s)
      AI336986, V01514
      Consensus CDS
      CCDS3556.1
      UniProtKB/Swiss-Prot
      P02771
      Related
      ENSP00000379138, OTTHUMP00000160480, ENST00000395792, OTTHUMT00000252284
      Conserved Domains (1) summary
      cd00015
      Location:413599
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      73423104..73455785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531704.1XP_011530006.1  

      Conserved Domains (1) summary
      cd00015
      Location:412598
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      74338125..74357625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)