C1QA (complement C1q A chain)

2003-05-01  

Identity

HGNC
C1QA
LOCATION
1p36.12
LOCUSID
712
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 712
MIM: 120550
HGNC: 1241
Ensembl: ENSG00000173372

Variants:

dbSNP: 712
ClinVar: 712
TCGA: ENSG00000173372
COSMIC: C1QA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173372ENST00000374642P02745
ENSG00000173372ENST00000374642A0A024RAG6
ENSG00000173372ENST00000402322P02745
ENSG00000173372ENST00000402322A0A024RAG6
ENSG00000173372ENST00000438241X6RLJ0

Expression (GTEx)

0
500
1000
1500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
PertussisKEGGko05133
PertussisKEGGhsa05133
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Creation of C4 and C2 activatorsREACTOMER-HSA-166786
Classical antibody-mediated complement activationREACTOMER-HSA-173623

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
129601672003The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties.94
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
126459452003Biochemical and functional characterization of the interaction between pentraxin 3 and C1q.78
268317472016C1q acts in the tumour microenvironment as a cancer-promoting factor independently of complement activation.53
160463962005The extracellular matrix and inflammation: fibromodulin activates the classical pathway of complement by directly binding C1q.52
189273132008A polymorphism in the complement component C1qA correlates with prolonged response following rituximab therapy of follicular lymphoma.42
189273132008A polymorphism in the complement component C1qA correlates with prolonged response following rituximab therapy of follicular lymphoma.42
286013582017C1q: A fresh look upon an old molecule.40
165665832006Interaction of C1q with IgG1, C-reactive protein and pentraxin 3: mutational studies using recombinant globular head modules of human C1q A, B, and C chains.39
237207822013Collagen-binding microbial surface components recognizing adhesive matrix molecule (MSCRAMM) of Gram-positive bacteria inhibit complement activation via the classical pathway.38

Citation

Dessen P

C1QA (complement C1q A chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/872/c1qa