SAA1 (serum amyloid A1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6288
Gene name Serum amyloid A1
Gene symbol SAA1
Synonyms (NCBI Gene)
PIG4SAASAA2TP53I4
Chromosome 11
Chromosome location 11p15.1
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 inflamm
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs1136743 C>T Likely-benign, pathogenic Missense variant, coding sequence variant
rs79681911 G>A Pathogenic, benign Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT025456 hsa-miR-34a-5p Proteomics 21566225
MIRT453836 hsa-miR-6753-5p PAR-CLIP 23592263
MIRT453835 hsa-miR-6760-5p PAR-CLIP 23592263
MIRT453834 hsa-miR-6732-5p PAR-CLIP 23592263
MIRT453832 hsa-miR-4270 PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CEBPA Unknown 12410800
CEBPB Unknown 12410800
NFKB1 Unknown 23391827
RELA Unknown 23391827
STAT3 Unknown 16236134;23391827
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IDA 9892621
GO:0001819 Process Positive regulation of cytokine production IDA 12857601
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 7516407, 14718574
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104750 10513 ENSG00000173432
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DJI8
Protein name Serum amyloid A-1 protein (SAA) [Cleaved into: Amyloid protein A (Amyloid fibril protein AA); Serum amyloid protein A(2-104); Serum amyloid protein A(3-104); Serum amyloid protein A(2-103); Serum amyloid protein A(2-102); Serum amyloid protein A(4-101)]
Protein function Major acute phase protein.
PDB 4IP8 , 4IP9 , 6MST , 7ZKY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00277 SAA 22 → 122 Serum amyloid A protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver; secreted in plasma (at protein level). {ECO:0000269|PubMed:12973732, ECO:0000269|PubMed:4816450, ECO:0000269|PubMed:7115671}.
Sequence
Sequence length 122
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Scavenging by Class B Receptors
G alpha (q) signalling events
G alpha (i) signalling events
Formyl peptide receptors bind formyl peptides and many other ligands
TAK1 activates NFkB by phosphorylation and activation of IKKs complex
Interleukin-4 and Interleukin-13 signaling
Advanced glycosylation endproduct receptor signaling
TRAF6 mediated NF-kB activation
Amyloid fiber formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations