ENSG00000173369


Homo sapiens

Features
Gene ID: ENSG00000173369
  
Biological name :C1QB
  
Synonyms : C1QB / complement C1q B chain / P02746
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.12
Gene start: 22652762
Gene end: 22661538
  
Corresponding Affymetrix probe sets: 202953_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000313967
Ensembl peptide - ENSP00000426317
Ensembl peptide - ENSP00000423689
Ensembl peptide - ENSP00000404606
NCBI entrez gene - 713     See in Manteia.
OMIM - 120570
RefSeq - XM_011542059
RefSeq - NM_000491
RefSeq Peptide - NP_000482
swissprot - A0A0A0MSV6
swissprot - A0A024RAB9
swissprot - D6RGJ1
swissprot - P02746
swissprot - D6R934
Ensembl - ENSG00000173369
  
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
 c1qbENSDARG00000044612Danio rerio
 C1QBENSGALG00000004771Gallus gallus
 C1qbENSMUSG00000036905Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
C1QC / P02747 / complement C1q C chainENSG0000015918948
COL8A1 / P27658 / collagen type VIII alpha 1 chainENSG0000014481038
P0C862 / C1QTNF9 / C1q and TNF related 9ENSG0000024065437
COL8A2 / P25067 / collagen type VIII alpha 2 chainENSG0000017181236
B2RNN3 / C1QTNF9B / C1q and TNF related 9BENSG0000020586336
Q9BXJ2 / C1QTNF7 / C1q and TNF related 7ENSG0000016314534
Q03692 / COL10A1 / collagen type X alpha 1 chainENSG0000012350034
Q9BXJ5 / C1QTNF2 / C1q and TNF related 2ENSG0000014586134
OTOL1 / A6NHN0 / otolin 1ENSG0000018244734
Q9BXJ0 / C1QTNF5 / C1q and TNF related 5ENSG0000022395332
ADIPOQ / Q15848 / adiponectin, C1Q and collagen domain containingENSG0000018109232


Protein motifs (from Interpro)
Interpro ID Name
 IPR001073  C1q domain
 IPR008160  Collagen triple helix repeat
 IPR008983  Tumour necrosis factor-like domain superfamily
 IPR037573  Complement C1q subcomponent B


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:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0048839 inner ear development 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
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA


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
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / reaction
 ENSG00000159403 C1R / P00736 / complement C1r  / complex
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / complex
 ENSG00000132693 CRP / P02741 / C-reactive protein  / complex
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / reaction
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / complex
 ENSG00000166278 C2 / P06681 / complement C2  / reaction
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / complex
 ENSG00000173369 C1QB / P02746 / complement C1q B chain  / complex
 ENSG00000159189 C1QC / P02747 / complement C1q C chain  / complex
 ENSG00000173372 C1QA / P02745 / complement C1q A chain  / complex






 

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