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    AFM afamin [ Homo sapiens (human) ]

    Gene ID: 173, updated on 10-Dec-2024

    Summary

    Official Symbol
    AFMprovided by HGNC
    Official Full Name
    afaminprovided by HGNC
    Primary source
    HGNC:HGNC:316
    See related
    Ensembl:ENSG00000079557 MIM:104145; AllianceGenome:HGNC:316
    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
    ALF; ALB2; ALBA
    Summary
    This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward liver (RPKM 187.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AFM in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73481745..73504001)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (76825372..76847610)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74347462..74369718)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene albumin Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:74315627-74316826 Neighboring gene alpha fetoprotein Neighboring gene NANOG hESC enhancer GRCh37_chr4:74360223-74360724 Neighboring gene long intergenic non-protein coding RNA 2499 Neighboring gene Sharpr-MPRA regulatory region 8651 Neighboring gene uncharacterized LOC107986287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21612

    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

    BioGRID CRISPR Screen Phenotypes (43 hits/1248 screens)

    EBI GWAS Catalog

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

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of afamin (AFM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    General gene information

    Clone Names

    • MGC125338, MGC125339

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    enables vitamin E binding  
    enables vitamin E binding PubMed 
    enables vitamin E binding PubMed 

    General protein information

    Preferred Names
    afamin
    Names
    alpha-Alb
    alpha-albumin
    vitamin E binding protein

    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.

    mRNA and Protein(s)

    1. NM_001133.2NP_001124.1  afamin precursor

      See identical proteins and their annotated locations for NP_001124.1

      Status: REVIEWED

      Source sequence(s)
      U51243
      Consensus CDS
      CCDS3557.1
      UniProtKB/Swiss-Prot
      A8K3E1, P43652, Q32MR3, Q4W5C5
      Related
      ENSP00000226355.3, ENST00000226355.5
      Conserved Domains (1) summary
      pfam00273
      Location:414590
      Serum_albumin; Serum albumin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      73481745..73504001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007842.3XP_016863331.1  afamin isoform X1

    2. XM_017007843.3XP_016863332.1  afamin isoform X2

    3. XM_017007844.3XP_016863333.1  afamin isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      76825372..76847610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349144.1XP_054205119.1  afamin isoform X1

    2. XM_054349145.1XP_054205120.1  afamin isoform X2

    3. XM_054349146.1XP_054205121.1  afamin isoform X3

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