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C1QA complement component 1, q subcomponent, A chain [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_015991 Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. Full Length $318.42
ORF Sequence $214.02


Gene Symbol C1QA
Entrez Gene ID 712
Full Name complement component 1, q subcomponent, A chain
Synonyms
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p36.12

Summary This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq].
Disorder

MIM: 120550

C1q deficiency, type A (3)

mRNA NM_015991, 87298824
Protein NP_057075, 7705753
Product complement C1q subcomponent subunit A precursor
RefSeq Status REVIEWED
KEGG
hsa05142Chagas disease (American trypanosomiasis)
hsa05150Staphylococcus aureus infection
hsa05322Systemic lupus erythematosus
hsa05020Prion diseases
hsa04610Complement and coagulation cascades
WikiPathways
WP545Complement Activation, Classical Pathway
WP558Complement and Coagulation Cascades
Reactome
REACT_8024Initial triggering of complement
REACT_6802Innate Immunity Signaling
REACT_8012Creation of C4 and C2 activators
REACT_7956Classical antibody-mediated complement activation
REACT_6932Complement cascade
REACT_6900Signaling in Immune system
Homo sapiens (human)C1QANP_057075.1
Pan troglodytes (chimpanzee)C1QAXP_001166821.1
Canis lupus familiaris (dog)C1QAXP_535367.1
Bos taurus (cattle)C1QANP_001014945.1
Mus musculus (house mouse)C1qaNP_031598.2
Rattus norvegicus (Norway rat)C1qaNP_001008515.1
Gallus gallus (chicken)C1QAXP_417654.2
Danio rerio (zebrafish)c1qaNP_001018363.1
Process
IDNameEvidence
GO:0006956complement activationTAS
GO:0006958complement activation, classical pathwayTAS
GO:0007267cell-cell signalingTAS
GO:0045087innate immune responseTAS
Component
IDNameEvidence
GO:0005576extracellular regionEXP
GO:0005576extracellular regionTAS
GO:0005581collagenIEA
GO:0005602complement component C1 complexTAS
GeneCards C1QA
PDB 2WNV, 2WNU, 1PK6, 2JG8, 2JG9
UniProt P02745
MIM 120550
Ensembl ENSG00000173372
HGNC 1241
HPRD 00393

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