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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

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