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    AFM afamin [ Homo sapiens (human) ]

    Gene ID: 173, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus. Alakbarova L, et al. J Matern Fetal Neonatal Med, 2023 Dec. PMID 37518071
    2. A two-site immunoradiometric assay for the determination of alpha-albumin. Noppe M, et al. J Immunol Methods, 1979 May 10. PMID 37276
    3. Primary cultures from defined brain areas; effects of seeding time on cell growth, astroglial content and protein synthesis. Hansson E, et al. Brain Res, 1985 Aug. PMID 4041902
    4. Glial cells identified by anti-alpha-albumin (anti-GFA) in human pineal gland. Lowenthal A, et al. J Neurochem, 1982 Mar. PMID 7035619
    5. Afamin is a new member of the albumin, alpha-fetoprotein, and vitamin D-binding protein gene family. Lichenstein HS, et al. J Biol Chem, 1994 Jul 8. PMID 7517938

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus.
      Title: Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus.
    2. Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus.
      Title: Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus.
    3. AFM negatively regulates the infiltration of monocytes to mediate sepsis-associated acute kidney injury.
      Title: AFM negatively regulates the infiltration of monocytes to mediate sepsis-associated acute kidney injury.
    4. Afamin Levels and Their Correlation with Oxidative and Lipid Parameters in Non-diabetic, Obese Patients.
      Title: Afamin Levels and Their Correlation with Oxidative and Lipid Parameters in Non-diabetic, Obese Patients.
    5. Novel metabolic marker Afamin: A predictive factor for Large-for-Gestational-Age (LGA) fetus estimation in pregnancies with gestational diabetes mellitus?
      Title: Novel metabolic marker Afamin: A predictive factor for Large-for-Gestational-Age (LGA) fetus estimation in pregnancies with gestational diabetes mellitus?
    6. Seminal Plasma and Serum Afamin Levels Are Associated with Infertility in Men with Oligoasthenoteratozoospermia.
      Title: Seminal Plasma and Serum Afamin Levels Are Associated with Infertility in Men with Oligoasthenoteratozoospermia.
    7. Serum Afamin a Novel Marker of Increased Hepatic Lipid Content.
      Title: Serum Afamin a Novel Marker of Increased Hepatic Lipid Content.
    8. Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia.
      Title: Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia.
    9. Serum afamin concentrations are elevated in the first trimester among patients developing preeclampsia later in pregnancy compared to controls
      Title: Afamin: an early predictor of preeclampsia.
    10. The results showed significantly higher serum afamin levels in women with pre-eclampsia and gestational diabetes mellitus compared to healthy pregnant women.
      Title: Combination of first trimester serum afamin levels and three-dimensional placental bed vascularization as a possible screening method to detect women at-risk for adverse pregnancy complications like pre-eclampsia and gestational diabetes mellitus in low-risk pregnancies.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125338, MGC125339

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables vitamin E binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables vitamin E binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables vitamin E binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport within extracellular region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vitamin transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vitamin transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001133.2 → NP_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:414 → 590
      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_017007842.3 → XP_016863331.1  afamin isoform X1

    2. XM_017007843.3 → XP_016863332.1  afamin isoform X2

    3. XM_017007844.3 → XP_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_054349144.1 → XP_054205119.1  afamin isoform X1

    2. XM_054349145.1 → XP_054205120.1  afamin isoform X2

    3. XM_054349146.1 → XP_054205121.1  afamin isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43652.1 GenPept UniProtKB/Swiss-Prot:P43652

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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