CA1 (carbonic anhydrase 1)

2013-02-01  

Identity

HGNC
LOCATION
8q21.2
LOCUSID
ALIAS
CA-I,CAB,Car1,HEL-S-11
FUSION GENES

Other Information

Locus ID:

NCBI: 759
MIM: 114800
HGNC: 1368
Ensembl: ENSG00000133742

Variants:

dbSNP: 759
ClinVar: 759
TCGA: ENSG00000133742
COSMIC: CA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133742ENST00000431316P00915
ENSG00000133742ENST00000431316V9HWE3
ENSG00000133742ENST00000517429E5RII2
ENSG00000133742ENST00000517590E5RH81
ENSG00000133742ENST00000517618E5RHP7
ENSG00000133742ENST00000519129E5RHS7
ENSG00000133742ENST00000519991E5RJI8
ENSG00000133742ENST00000520663E5RJF6
ENSG00000133742ENST00000521679H0YBE2
ENSG00000133742ENST00000521846E5RG43
ENSG00000133742ENST00000522389E5RG81
ENSG00000133742ENST00000522579E5RG43
ENSG00000133742ENST00000522662E5RFL2
ENSG00000133742ENST00000522814E5RIF9
ENSG00000133742ENST00000523022P00915
ENSG00000133742ENST00000523022V9HWE3
ENSG00000133742ENST00000523858E5RGU8
ENSG00000133742ENST00000523953P00915
ENSG00000133742ENST00000523953V9HWE3
ENSG00000133742ENST00000524324E5RFE7
ENSG00000133742ENST00000542576P00915
ENSG00000133742ENST00000542576V9HWE3
ENSG00000133742ENST00000626824E5RG81

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Nitrogen metabolismKEGGko00910
Nitrogen metabolismKEGGhsa00910
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673
Reversible hydration of carbon dioxideREACTOMER-HSA-1475029

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229960142012New prognosis biomarkers identified by dynamic proteomic analysis of colorectal cancer.19
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
158367832005Expression of a novel carbonic anhydrase, CA XIII, in normal and neoplastic colorectal mucosa.14
228388452012Carbonic anhydrase I (CA1) is involved in the process of bone formation and is susceptible to ankylosing spondylitis.13
246707892014Carbonic anhydrase activation is associated with worsened pathological remodeling in human ischemic diabetic cardiomyopathy.13
211438472010Increased expression of carbonic anhydrase I in the synovium of patients with ankylosing spondylitis.12
120098842002Crystal structure of a zinc-activated variant of human carbonic anhydrase I, CA I Michigan 1: evidence for a second zinc binding site involving arginine coordination.9
262323272016Carbonic anhydrase 1 is a promising biomarker for early detection of non-small cell lung cancer.9
264593172015CA1 contributes to microcalcification and tumourigenesis in breast cancer.9
174645592007Decreased total carbonic anhydrase esterase activity and decreased levels of carbonic anhydrase 1 isozyme in erythrocytes of type II diabetic patients.7

Citation

Dessen P

CA1 (carbonic anhydrase 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-02-01

Online version: http://atlasgeneticsoncology.org/gene/53151/ca1