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    SAA1 serum amyloid A1 [ Homo sapiens (human) ]

    Gene ID: 6288, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SAA1provided by HGNC
    Official Full Name
    serum amyloid A1provided by HGNC
    Primary source
    HGNC:HGNC:10513
    See related
    Ensembl:ENSG00000173432 MIM:104750; AllianceGenome:HGNC:10513
    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
    all
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    Genomic context

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    See SAA1 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18266264..18269967)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18361791..18365494)
    RS_2024_09 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 MPRA-validated peak1223 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4494 Neighboring gene HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4495 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:18343272-18344471 Neighboring gene general transcription factor IIH subunit 1 Neighboring gene uncharacterized LOC105376577

    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. Purification, identification and profiling of serum amyloid A proteins from sera of advanced-stage cancer patients. Li J, et al. J Chromatogr B Analyt Technol Biomed Life Sci, 2012 Mar 15. PMID 22341353, Free PMC Article
    2. Elevated serum amyloid A is associated with venous thromboembolism. Deguchi H, et al. Thromb Haemost, 2013 Feb. PMID 23255027, Free PMC Article
    3. Acute-phase serum amyloid A protein and its implication in the development of type 2 diabetes in the KORA S4/F4 study. Marzi C, et al. Diabetes Care, 2013 May. PMID 23238662, Free PMC Article
    4. Human serum amyloid A (SAA) protein changes in acute epilepsy patients. Li G, et al. Int J Neurosci, 2013 Apr. PMID 23230824
    5. Renal AA-amyloidosis in intravenous drug users--a role for HIV-infection? Jung O, et al. BMC Nephrol, 2012 Nov 21. PMID 23171281, Free PMC Article

    See all (303) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Key charged residues influence the amyloidogenic propensity of the helix-1 region of serum amyloid A.
      Title: Key charged residues influence the amyloidogenic propensity of the helix-1 region of serum amyloid A.
    2. SAA1-dependent reprogramming of adipocytes by tumor cells is associated with triple negative breast cancer aggressiveness.
      Title: SAA1-dependent reprogramming of adipocytes by tumor cells is associated with triple negative breast cancer aggressiveness.
    3. Serum amyloid A facilitates expansion of CD4[+] T cell and CD19[+] B cell subsets implicated in the severity of myasthenia gravis patients.
      Title: Serum amyloid A facilitates expansion of CD4(+) T cell and CD19(+) B cell subsets implicated in the severity of myasthenia gravis patients.
    4. IL-6 and SAA-Strong Predictors for the Outcome in COVID-19 CKD Patients.
      Title: IL-6 and SAA-Strong Predictors for the Outcome in COVID-19 CKD Patients.
    5. The diagnostic and prognostic value of SAA1 as a novel biomarker for acute aortic dissection.
      Title: The diagnostic and prognostic value of SAA1 as a novel biomarker for acute aortic dissection.
    6. SAA1 Has Potential as a Prognostic Biomarker Correlated with Cell Proliferation, Migration, and an Indicator for Immune Infiltration of Tumor Microenvironment in Clear Cell Renal Cell Carcinoma.
      Title: SAA1 Has Potential as a Prognostic Biomarker Correlated with Cell Proliferation, Migration, and an Indicator for Immune Infiltration of Tumor Microenvironment in Clear Cell Renal Cell Carcinoma.
    7. Amnion-derived serum amyloid A1 participates in sterile inflammation of fetal membranes at parturition.
      Title: Amnion-derived serum amyloid A1 participates in sterile inflammation of fetal membranes at parturition.
    8. Serum amyloid A1 recruits neutrophils to the invasive front of T1 colorectal cancers.
      Title: Serum amyloid A1 recruits neutrophils to the invasive front of T1 colorectal cancers.
    9. Signal peptide stabilizes folding and inhibits misfolding of serum amyloid A.
      Title: Signal peptide stabilizes folding and inhibits misfolding of serum amyloid A.
    10. Regulation of Atherosclerosis by Toll-Like Receptor 4 Induced by Serum Amyloid 1: A Systematic In Vitro Study.
      Title: Regulation of Atherosclerosis by Toll-Like Receptor 4 Induced by Serum Amyloid 1: A Systematic In Vitro Study.
    Submit: New GeneRIF Correction See all GeneRIFs (236)

    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
    Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
    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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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    Process Evidence Code Pubs
    involved_in acute-phase response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in macrophage chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in neutrophil chemotaxis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-1 production NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of protein secretion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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

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    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_021330.2 RefSeqGene

      Range
      5002..8705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000331.6 → NP_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
      UniProtKB/Swiss-Prot
      E9PQD6, P02735, P02736, P02737, P0DJI8, Q16730, Q16834, Q16835, Q16879, Q3KRB3, Q6FG67, Q96QN0, Q9UCK9, Q9UCL0
      Related
      ENSP00000384906.2, ENST00000405158.2
      Conserved Domains (1) summary
      pfam00277
      Location:23 → 122
      SAA; Serum amyloid A protein

    2. NM_001178006.3 → NP_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
      UniProtKB/Swiss-Prot
      E9PQD6, P02735, P02736, P02737, P0DJI8, Q16730, Q16834, Q16835, Q16879, Q3KRB3, Q6FG67, Q96QN0, Q9UCK9, Q9UCL0
      Related
      ENSP00000436866.1, ENST00000532858.5
      Conserved Domains (1) summary
      pfam00277
      Location:23 → 122
      SAA; Serum amyloid A protein

    3. NM_199161.5 → NP_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
      UniProtKB/Swiss-Prot
      E9PQD6, P02735, P02736, P02737, P0DJI8, Q16730, Q16834, Q16835, Q16879, Q3KRB3, Q6FG67, Q96QN0, Q9UCK9, Q9UCL0
      Related
      ENSP00000348918.4, ENST00000356524.9
      Conserved Domains (1) summary
      pfam00277
      Location:23 → 122
      SAA; Serum amyloid A protein

    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_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160006.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18361791..18365494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DJI8.2 GenPept UniProtKB/Swiss-Prot:P0DJI8

    Gene LinkOut

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

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