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    AFP alpha fetoprotein [ Homo sapiens (human) ]

    Gene ID: 174, updated on 5-Feb-2024

    Summary

    Official Symbol
    AFPprovided by HGNC
    Official Full Name
    alpha fetoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:317
    See related
    Ensembl:ENSG00000081051 MIM:104150; AllianceGenome:HGNC:317
    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 hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. 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, Oct 2019]
    Expression
    Biased expression in kidney (RPKM 1.8) and liver (RPKM 1.6) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AFP in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73436221..73456174)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (76779943..76799830)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74301938..74321891)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA3/SNORA45 family Neighboring gene ANKRD17 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:74191462-74192661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74204803-74205304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74205305-74205804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:74209023-74209524 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:74235125-74235832 Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene albumin Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:74315627-74316826 Neighboring gene NANOG hESC enhancer GRCh37_chr4:74360223-74360724 Neighboring gene afamin Neighboring gene long intergenic non-protein coding RNA 2499 Neighboring gene Sharpr-MPRA regulatory region 8651

    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?

    Phenotypes

    Associated conditions

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

    EBI 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.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small molecule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in ovulation from ovarian follicle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in progesterone metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    alpha-fetoprotein
    Names
    alpha-1-fetoprotein
    alpha-fetoglobulin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023028.2 RefSeqGene

      Range
      5002..24955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134.3NP_001125.1  alpha-fetoprotein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108157
      Consensus CDS
      CCDS3556.1
      UniProtKB/Swiss-Prot
      B2RBU3, P02771
      UniProtKB/TrEMBL
      J3KMX3
      Related
      ENSP00000379138.2, ENST00000395792.7
      Conserved Domains (1) summary
      smart00103
      Location:404594
      ALBUMIN; serum albumin
    2. NM_001354717.2NP_001341646.2  alpha-fetoprotein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC108157
      UniProtKB/TrEMBL
      B4DMX4
      Conserved Domains (2) summary
      smart00103
      Location:246436
      ALBUMIN; serum albumin
      cl00031
      Location:150
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      73436221..73456174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      76779943..76799830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)