1. Gene
  2. C1QC - complement C1q C chain Gene

C1QC - complement C1q C chain Gene

Homo sapiens

Also known as C1QG; C1Q-C

Gene ID: 714 | Gene type: protein coding

About C1QC

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:22,643,633-22,648,108 (from NCBI)

This gene has 8 transcripts (splice variants), 168 orthologues, 23 paralogues and is associated with 2 phenotypes. Broad expression in spleen (RPKM 519.1), lymph node (RPKM 141.4) and 14 other tissues.

Summary

This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum Complement System. 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. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]

C1QC Products(4)

mRNA Protein Name
NM_001114101.3 NP_001107573.1 complement C1q subcomponent subunit C isoform 1 precursor
NM_001347619.2 NP_001334548.1 complement C1q subcomponent subunit C isoform 1 precursor
NM_001347620.2 NP_001334549.1 complement C1q subcomponent subunit C isoform 2
NM_172369.5 NP_758957.2 complement C1q subcomponent subunit C isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
28018340 GOA
Biological Process GO Annotation Evidence Reference Source
involved in complement activation, classical pathway IDA
IDA: Inferred from direct assay
29449492 GOA
involved in negative regulation of granulocyte differentiation IDA
IDA: Inferred from direct assay
10961870 GOA
involved in negative regulation of macrophage differentiation IDA
IDA: Inferred from direct assay
10961870 GOA
Cellular Component GO Annotation Evidence Reference Source
part of complement component C1q complex IPI
IPI: Inferred from physical interaction
29449492 GOA
located in extracellular region IDA
IDA: Inferred from direct assay
18250442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C1QC Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (31 - 67)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (66 - 113)

C1q

C1q: C1q domain (121 - 242)

  • 0
  • 100
  • 200
  • 245 a.a.
Protein Preferred Names Protein Names

complement C1q subcomponent subunit C

complement component 1, q subcomponent, C chain

Related Diseases

Diseases Alias
C1q Deficiency

C1QD

Complement Component C1q Deficiency

Immunodeficiency Due To A Classical Component Pathway Complement Deficiency

Immunodeficiency Due To C1, C4, Or C2 Component Complement Deficiency

Immunodeficiency Due To An Early Component Of Complement Deficiency

Glomerulonephritis

Bright'S Disease

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Angioedema, Hereditary, 1

Hereditary Angioedema Type I

Hereditary Angioneurotic Edema

Hane

C1 Esterase Inhibitor Deficiency

Angioedema, Hereditary, 1 And 2

HAE1

Angioneurotic Edema, Hereditary

Angioedema, Hereditary, Type I

Hereditary Angioedema Type 2

Hae 2

Hae-Ii

Hereditary Angioneurotic Edema Type 2

Angioedema, Hereditary

HAE

Angioedema, Hereditary, Types I And Ii

Hereditary Angioedema, Type Ii

Angioedema, Hereditary, Type 1

Angioedemas, Hereditary

Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor

Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

Hereditary Angioedema Types I And Ii

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris C1QC VGNC VGNC:52112
Bos taurus C1QC VGNC VGNC:26619
Macaca mulatta C1QC VGNC VGNC:99857
Rattus norvegicus C1QC RGD RGD:1306828
Mus musculus C1QC MGD MGI:88225
Felis catus C1QC VGNC VGNC:107491