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AFP alpha-fetoprotein [ Homo sapiens (human) ]

Gene ID: 174, updated on 19-Nov-2014
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]
Location:
4q13.3
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (73436219..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 uncharacterized LOC102724832 Neighboring gene albumin Neighboring gene afamin Neighboring gene hCG1813624

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
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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
 
ovulation from ovarian follicle IEA
Inferred from Electronic Annotation
more info
 
progesterone metabolic process 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-fetoglobulin
alpha-1-fetoprotein

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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 106

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

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    70113470..70132972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    73436219..73455785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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