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    SAA1 serum amyloid A1 [ Homo sapiens (human) ]

    Gene ID: 6288, updated on 2-Aug-2021

    Summary

    Official Symbol
    SAA1provided by HGNC
    Official Full Name
    serum amyloid A1provided by HGNC
    Primary source
    HGNC:HGNC:10513
    See related
    Ensembl:ENSG00000173432 MIM:104750
    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
    SAA; PIG4; SAA2; TP53I4
    Summary
    This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Jul 2020]
    Expression
    Biased expression in fat (RPKM 1382.7), liver (RPKM 1080.1) and 1 other tissue See more
    Orthologs
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    Genomic context

    See SAA1 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (18266264..18269967)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18287811..18291514)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SAA2-SAA4 readthrough Neighboring gene serum amyloid A2 Neighboring gene RNA, 5S ribosomal pseudogene 333 Neighboring gene RNA, 5S ribosomal pseudogene 334 Neighboring gene ST13, Hsp70 interacting protein pseudogene 5 Neighboring gene HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene general transcription factor IIH subunit 1 Neighboring gene uncharacterized LOC105376577

    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
    Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of serum amyloid A1 (SAA1) expression as compared to untreated control PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC111216

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    part_of high-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    serum amyloid A-1 protein
    Names
    serum amyloid A protein
    tumor protein p53 inducible protein 4

    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.

    Genomic

    1. NG_021330.1 RefSeqGene

      Range
      4965..8717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000331.6NP_000322.3  serum amyloid A-1 protein preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC107948
      Consensus CDS
      CCDS7835.1
      Related
      ENSP00000384906.2, ENST00000405158.2
      Conserved Domains (1) summary
      pfam00277
      Location:23122
      SAA; Serum amyloid A protein
    2. NM_001178006.3NP_001171477.2  serum amyloid A-1 protein preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC107948
      Consensus CDS
      CCDS7835.1
      Related
      ENSP00000436866.1, ENST00000532858.5
      Conserved Domains (1) summary
      pfam00277
      Location:23122
      SAA; Serum amyloid A protein
    3. NM_199161.5NP_954630.2  serum amyloid A-1 protein preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC107948
      Consensus CDS
      CCDS7835.1
      Related
      ENSP00000348918.4, ENST00000356524.9
      Conserved Domains (1) summary
      pfam00277
      Location:23122
      SAA; Serum amyloid A protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      18266264..18269967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160006.1 Reference GRCh38.p13 PATCHES

      Range
      15090..18793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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