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SAA1 (serum amyloid A1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6288
Gene nameGene Name - the full gene name approved by the HGNC.
Serum amyloid A1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SAA1
SynonymsGene synonyms aliases
PIG4, SAA, SAA2, TP53I4
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 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.
GO ID Ontology Definition Evidence Reference
GO:0000187 Process Activation of MAPK activity IDA 22532826
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 NAS 7516407, 14718574
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
Sequence length 122
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 15944321
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Unknown
Disease name Disease term dbSNP ID References
Aa amyloidosis AA amyloidosis
Amyloid nephropathy Amyloid nephropathy
Malabsorption syndrome Malabsorption Syndrome
Malnutrition Malnutrition

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