ENSG00000173372


Homo sapiens

Features
Gene ID: ENSG00000173372
  
Biological name :C1QA
  
Synonyms : C1QA / complement C1q A chain / P02745
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.12
Gene start: 22636506
Gene end: 22639608
  
Corresponding Affymetrix probe sets: 218232_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000416841
Ensembl peptide - ENSP00000363773
Ensembl peptide - ENSP00000385564
NCBI entrez gene - 712     See in Manteia.
OMIM - 120550
RefSeq - NM_001347465
RefSeq - NM_015991
RefSeq Peptide - NP_001334394
RefSeq Peptide - NP_001334395
RefSeq Peptide - NP_057075
swissprot - X6RLJ0
swissprot - P02745
swissprot - A0A024RAG6
Ensembl - ENSG00000173372
  
Related genetic diseases (OMIM): 613652 - C1q deficiency, 613652
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 c1qaENSDARG00000044613Danio rerio
 C1QAENSGALG00000021569Gallus gallus
 C1qaENSMUSG00000036887Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P60827 / C1QTNF8 / C1q and TNF related 8ENSG0000018447128
Q9BXJ1 / C1QTNF1 / C1q and TNF related 1ENSG0000017391826
Q9BXI9 / C1QTNF6 / C1q and TNF related 6ENSG0000013346625
Q9BXJ3 / C1QTNF4 / C1q and TNF related 4ENSG0000017224723


Protein motifs (from Interpro)
Interpro ID Name
 IPR001073  C1q domain
 IPR008160  Collagen triple helix repeat
 IPR008983  Tumour necrosis factor-like domain superfamily
 IPR037572  Complement C1q subcomponent subunit A


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006956 complement activation TAS
 biological_processGO:0006958 complement activation, classical pathway TAS
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0010039 response to iron ion IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005602 complement component C1 complex TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Initial triggering of complement
Classical antibody-mediated complement activation
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000793 Membranoproliferative glomerulonephritis 
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 HP:0002719 Recurrent infections 
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 HP:0002725 Systemic lupus erythematosus 
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 HP:0005356 Decreased serum complement factor I 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000149131 P05155 / SERPING1 / serpin family G member 1  / reaction / complex
 ENSG00000182326 C1S / P09871 / complement C1s  / complex
 ENSG00000159189 C1QC / P02747 / complement C1q C chain  / complex
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / complex
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / complex
 ENSG00000173369 C1QB / P02746 / complement C1q B chain  / complex
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / complex
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / reaction
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / reaction
 ENSG00000132693 CRP / P02741 / C-reactive protein  / complex
 ENSG00000159403 C1R / P00736 / complement C1r  / complex
 ENSG00000166278 C2 / P06681 / complement C2  / reaction
 ENSG00000173372 C1QA / P02745 / complement C1q A chain  / complex






 

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