SAA1 (serum amyloid A1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6288
Gene name Gene Name - the full gene name approved by the HGNC.
Serum amyloid A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAA1
Synonyms (NCBI Gene) Gene synonyms aliases
PIG4, SAA, SAA2, TP53I4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(48)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
104750 10513 ENSG00000173432
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lewy Body Disease Lewy body disease N/A N/A GWAS
Show/Hide Text Mining Associations (91)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 11407685, 16980401
Acne Vulgaris Associate 29927962, 31281837
Acute Aortic Syndrome Associate 32256857
Acute Kidney Injury Stimulate 32856461
Acute On Chronic Liver Failure Associate 32994688
Adenoma Liver Cell Associate 24743216
Altitude Sickness Associate 39173139
Alzheimer Disease Associate 38605603
Amyloidosis Associate 12270922, 12687559, 15018633, 25394530
Amyloidosis familial visceral Associate 11017802, 19888326