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    AFM afamin [ Homo sapiens (human) ]

    Gene ID: 173, updated on 3-Jun-2018
    Official Symbol
    AFMprovided by HGNC
    Official Full Name
    afaminprovided by HGNC
    Primary source
    HGNC:HGNC:316
    See related
    Ensembl:ENSG00000079557 MIM:104145; Vega:OTTHUMG00000130004
    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
    See AFM in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (73481745..73504001)
    105 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 alpha fetoprotein Neighboring gene long intergenic non-protein coding RNA 2499 Neighboring gene uncharacterized LOC107986287

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC125338, MGC125339

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    vitamin E binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vitamin E binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein transport within extracellular region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vitamin transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    afamin
    Names
    alpha-Alb
    alpha-albumin

    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
      P43652
      Related
      ENSP00000226355.3, OTTHUMP00000160471, ENST00000226355.4, OTTHUMT00000252275
      Conserved Domains (1) summary
      pfam00273
      Location:414590
      Serum_albumin; Serum albumin family

    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.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017007842.2XP_016863331.1  afamin isoform X1

    2. XM_017007843.2XP_016863332.1  afamin isoform X2

    3. XM_017007844.2XP_016863333.1  afamin isoform X3

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