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Gene : C1QA Homo sapiens

Name  ? complement C1q A chain Cytological Location  1p36.12
Brief Description  complement C1q A chain
Description  This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
  • synonyms:
  • HGNC:1241,
  • complement component 1, q subcomponent, A chain,
  • uc001bfy.4,
  • NM_015991,
  • C1QA,
  • AF135157,
  • complement C1q chain A,
  • complement component 1, q subcomponent, alpha polypeptide,
  • OTTHUMG00000002893
  • identifiers:
  • 712,
  • ENSG00000173372,
  • C1QA

Genome feature

Region: gene ? Length: 3216  
Location: 1:22636463-22639678 Cyto location: 1p36.12


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

122 SNPs

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results