1. Gene
  2. C1QA - complement C1q A chain Gene

C1QA - complement C1q A chain Gene

Homo sapiens
Gene ID: 712 | Gene type: protein coding

About C1QA

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:22,636,463-22,639,678 (from NCBI)

This gene has 12 transcripts (splice variants), 171 orthologues, 23 paralogues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 445.5), lymph node (RPKM 179.4) and 16 other tissues.

Summary

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]

C1QA Products(3)

mRNA Protein Name
NM_001347465.2 NP_001334394.1 complement C1q subcomponent subunit A precursor
NM_001347466.2 NP_001334395.1 complement C1q subcomponent subunit A precursor
NM_015991.4 NP_057075.1 complement C1q subcomponent subunit A 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
7240 GOA
Biological Process GO Annotation Evidence Reference Source
involved in complement activation, classical pathway IDA
IDA: Inferred from direct assay
29449492 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

C1QA Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (62 - 108)

C1q

C1q: C1q domain (116 - 241)

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

complement C1q subcomponent subunit A

complement C1q chain A

C1QA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
C1QA P02745 Q07021-PRO_0000018590 Homo sapiens Q07021-PRO_0000018590
Far-WB
28018340
Intra
C1QA P02745 Q07021-PRO_0000018590 Homo sapiens Q07021-PRO_0000018590
Solid Phase Assay
34804054
Intra
C1QA P02745 Q07021-PRO_0000018590 Homo sapiens Q07021-PRO_0000018590
ELISA
28018340
Intra
C1QA P02745 C1QB Homo sapiens P02746
Affinity Chrom
12960167
Intra
C1QA P02745 C1QB Homo sapiens P02746
X-Ray Diffraction
12960167
Intra
C1QA P02745 C1QB Homo sapiens P02746
ELISA
21054788
Intra
C1QA P02745 C1QB Homo sapiens P02746
Enzymatic Footprint
7240
Intra
C1QA P02745 C1QB Homo sapiens P02746
Filter Binding
28325905
Intra
C1QA P02745 SGTB Homo sapiens Q96EQ0
Validated Y2H
32296183
Intra
C1QA P02745 SGTB Homo sapiens Q96EQ0
Y2H Array
32296183
Intra
C1QA P02745 SGTB Homo sapiens Q96EQ0
Y2H Prey Pooling
32296183
Intra
C1QA P02745 UBQLN2 Homo sapiens Q9UHD9
Y2H
21988832
Intra
C1QA P02745 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra
C1QA P02745 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra
C1QA P02745 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Systemic Lupus Erythematosus 16

SLEB16

Autosomal Systemic Lupus Erythematosus

Autosomal Sle

Familial Sle

Familial Systemic Lupus Erythematosus

Lupus Erythematosus, Systemic, Type 16

Lupus Erythematosus

Lupus

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus, Systemic

Subacute Cutaneous Lupus

Le - [Lupus Erythematosus]

Glomerulonephritis

Bright'S Disease

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]

Malignant Iris Melanoma

Malignant Melanoma Of Iris

Melanoma Of The Iris

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
Felis catus C1QA VGNC VGNC:60219
Canis familiaris C1QA VGNC VGNC:38576
Mus musculus C1QA MGD MGI:88223
Rattus norvegicus C1QA RGD RGD:1306716
Bos taurus C1QA VGNC VGNC:26616
Others C1QA NCBI