Details for: CA1

Gene ID: 759

Symbol: CA1

Ensembl ID: ENSG00000133742

Description: carbonic anhydrase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 9.47
    Marker Score: 30332
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 6.05
    Marker Score: 17649
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 5.42
    Marker Score: 16079
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 3.89
    Marker Score: 3725
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.53
    Marker Score: 29817
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.62
    Marker Score: 7461.5
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.55
    Marker Score: 8004
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 2.01
    Marker Score: 26792
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169053
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.45
    Marker Score: 1444
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.3
    Marker Score: 4605
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.11
    Marker Score: 2297
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.05
    Marker Score: 1309
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71816
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.96
    Marker Score: 650
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.82
    Marker Score: 410
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.8
    Marker Score: 4825
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8
    Marker Score: 609
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.75
    Marker Score: 688
  • Cell Name: enucleated reticulocyte (CL0002422)
    Fold Change: 0.73
    Marker Score: 271
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.72
    Marker Score: 756
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.72
    Marker Score: 836
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2990
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.69
    Marker Score: 1314
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.68
    Marker Score: 708
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.67
    Marker Score: 15082
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.67
    Marker Score: 1694
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.65
    Marker Score: 10234
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.63
    Marker Score: 219
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.61
    Marker Score: 443
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.57
    Marker Score: 918
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.57
    Marker Score: 2736
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.56
    Marker Score: 1136
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.54
    Marker Score: 151
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.54
    Marker Score: 578
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.53
    Marker Score: 400
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.53
    Marker Score: 256
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.49
    Marker Score: 4242
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.48
    Marker Score: 128
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.47
    Marker Score: 1254
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.45
    Marker Score: 431
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.45
    Marker Score: 205
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.45
    Marker Score: 187
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.44
    Marker Score: 7057
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.43
    Marker Score: 125
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.43
    Marker Score: 297
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.43
    Marker Score: 179
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.43
    Marker Score: 1651
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.41
    Marker Score: 271
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.41
    Marker Score: 1707
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.41
    Marker Score: 169
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.41
    Marker Score: 117
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.39
    Marker Score: 257
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.38
    Marker Score: 244
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.38
    Marker Score: 122
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.38
    Marker Score: 23263
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.37
    Marker Score: 102
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.36
    Marker Score: 441
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.35
    Marker Score: 832
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.35
    Marker Score: 160
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.35
    Marker Score: 235
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.33
    Marker Score: 195
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.33
    Marker Score: 3391
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 0.33
    Marker Score: 101
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 0.33
    Marker Score: 192
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.33
    Marker Score: 105
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.32
    Marker Score: 3017
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.32
    Marker Score: 284
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.32
    Marker Score: 1286
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.32
    Marker Score: 280
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.31
    Marker Score: 82
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.3
    Marker Score: 293
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3
    Marker Score: 404
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.3
    Marker Score: 169
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.29
    Marker Score: 233
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.29
    Marker Score: 84
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.28
    Marker Score: 458
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.27
    Marker Score: 650
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.27
    Marker Score: 331
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.27
    Marker Score: 167
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.26
    Marker Score: 159
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.26
    Marker Score: 914.5
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.26
    Marker Score: 122
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.26
    Marker Score: 122
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.25
    Marker Score: 63

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Other Information

**Key characteristics:** - Protein type: Protein - Ensembl ID: ENSG00000133742 - Pathway/Ontology: Arylesterase activity, Carbonate dehydratase activity, Cyanamide hydratase activity, Cytokine signaling in immune system, Erythrocytes take up carbon dioxide and release oxygen, Erythrocytes take up oxygen and release carbon dioxide - Gene and protein expression by jak-stat signaling after interleukin-12 stimulation - Hydro-lyase activity - Immune system - Interleukin-12 family signaling - Metabolism **Pathways and functions:** - The CA1 protein is involved in the regulation of oxygen and carbon dioxide transport in the body. - It is expressed in erythrocytes, which are responsible for the transport of oxygen and carbon dioxide between the lungs and the rest of the body. - When interleukin-12 is stimulated, it triggers the Jak-Stat signaling pathway, which leads to the activation of CA1. - CA1 then dehydrates carbon dioxide and donates hydrogen ions, which helps to maintain the acid-base balance of the blood. - The protein is also involved in the regulation of inflammation and immune responses. **Clinical significance:** - Mutations in the CA1 gene have been linked to a number of human diseases, including retinal dystrophy, sickle cell anemia, and congenital stationary pulmonary interstitial lung disease. - CA1 is a potential therapeutic target for these diseases, as it can be used to correct the abnormal oxygen and carbon dioxide transport that is caused by mutations in the gene.

Genular Protein ID: 1718426029

Symbol: CAH1_HUMAN

Name: Carbonic anhydrase 1

UniProtKB Accession Codes:

P00915

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CPTAC 2 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DOSAC-COBS-2DPAGE 1 DisGeNET 1 DrugBank 29 DrugCentral 1 EC 2 EMBL 3 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PCDDB 1 PDB 47 PDBsum 44 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 2 RNAct 1 Reactome 4 RefSeq 5 Rhea 2 SABIO-RK 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3104879

Title: Human carbonic anhydrase I cDNA.

PubMed ID: 3104879

DOI: 10.1093/nar/15.5.2386

PubMed ID: 2121614

Title: Structure and methylation patterns of the gene encoding human carbonic anhydrase I.

PubMed ID: 2121614

DOI: 10.1016/0378-1119(90)90236-k

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 4217196

Title: Primary structure of human B erythrocyte carbonic anhydrase. 3. Sequence of CNBr fragment I and III (residues 149-260).

PubMed ID: 4217196

DOI: 10.1016/s0300-9084(74)80093-3

PubMed ID: 4625868

Title: Amino acid sequence of human erythrocyte carbonic anhydrase B.

PubMed ID: 4625868

DOI: 10.1016/0006-291x(72)90400-7

PubMed ID: 4632246

Title: Human carbonic anhydrases. XI. The complete primary structure of carbonic anhydrase B.

PubMed ID: 4632246

DOI: 10.1016/s0021-9258(19)44161-6

PubMed ID: 4207120

Title: Human carbonic anhydrases. XII. The complete primary structure of the C isozyme.

PubMed ID: 4207120

DOI: 10.1016/s0021-9258(19)42734-8

PubMed ID: 10550681

Title: Carbonic anhydrase catalyzes cyanamide hydration to urea: is it mimicking the physiological reaction?

PubMed ID: 10550681

DOI: 10.1007/s007750050375

PubMed ID: 16807956

Title: Carbonic anhydrase activators. Activation of isozymes I, II, IV, VA, VII, and XIV with l- and d-histidine and crystallographic analysis of their adducts with isoform II: engineering proton-transfer processes within the active site of an enzyme.

PubMed ID: 16807956

DOI: 10.1002/chem.200600159

PubMed ID: 16686544

Title: Carbonic anhydrase activators. Activation of isoforms I, II, IV, VA, VII, and XIV with L- and D-phenylalanine and crystallographic analysis of their adducts with isozyme II: stereospecific recognition within the active site of an enzyme and its consequences for the drug design.

PubMed ID: 16686544

DOI: 10.1021/jm0603320

PubMed ID: 17127057

Title: Carbonic anhydrase activators: L-Adrenaline plugs the active site entrance of isozyme II, activating better isoforms I, IV, VA, VII, and XIV.

PubMed ID: 17127057

DOI: 10.1016/j.bmcl.2006.11.027

PubMed ID: 19186056

Title: A thiabendazole sulfonamide shows potent inhibitory activity against mammalian and nematode alpha-carbonic anhydrases.

PubMed ID: 19186056

DOI: 10.1016/j.bmcl.2009.01.038

PubMed ID: 19206230

Title: Non-zinc mediated inhibition of carbonic anhydrases: coumarins are a new class of suicide inhibitors.

PubMed ID: 19206230

DOI: 10.1021/ja809683v

PubMed ID: 18618712

Title: Crystal structure of human carbonic anhydrase XIII and its complex with the inhibitor acetazolamide.

PubMed ID: 18618712

DOI: 10.1002/prot.22144

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 4622589

Title: Structure of human carbonic anhydrase B. I. Crystallization and heavy atom modifications.

PubMed ID: 4622589

DOI: 10.1016/0022-2836(72)90452-4

PubMed ID: 804171

Title: Crystal structure of human erythrocyte carbonic anhydrase B. Three-dimensional structure at a nominal 2.2-A resolution.

PubMed ID: 804171

DOI: 10.1073/pnas.72.1.51

PubMed ID: 6430186

Title: Structure, refinement, and function of carbonic anhydrase isozymes: refinement of human carbonic anhydrase I.

PubMed ID: 6430186

DOI: 10.1111/j.1749-6632.1984.tb12314.x

PubMed ID: 15299369

Title: Differences in anionic inhibition of human carbonic anhydrase I revealed from the structures of iodide and gold cyanide inhibitor complexes.

PubMed ID: 15299369

DOI: 10.1107/s0907444994001873

PubMed ID: 8057362

Title: Enzyme-substrate interactions. Structure of human carbonic anhydrase I complexed with bicarbonate.

PubMed ID: 8057362

DOI: 10.1006/jmbi.1994.1491

PubMed ID: 7932756

Title: Drug-protein interactions. Refined structures of three sulfonamide drug complexes of human carbonic anhydrase I enzyme.

PubMed ID: 7932756

DOI: 10.1006/jmbi.1994.1655

PubMed ID: 12009884

Title: Crystal 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.

PubMed ID: 12009884

DOI: 10.1021/bi0120446

PubMed ID: 16870440

Title: Carbonic anhydrase activators: the first X-ray crystallographic study of an adduct of isoform I.

PubMed ID: 16870440

DOI: 10.1016/j.bmcl.2006.07.021

PubMed ID: 16506782

Title: Ultrahigh resolution crystal structures of human carbonic anhydrases I and II complexed with 'two-prong' inhibitors reveal the molecular basis of high affinity.

PubMed ID: 16506782

DOI: 10.1021/ja057257n

PubMed ID: 17314045

Title: Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X-ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I.

PubMed ID: 17314045

DOI: 10.1016/j.bmcl.2007.01.113

PubMed ID: 17407288

Title: Structural analysis of charge discrimination in the binding of inhibitors to human carbonic anhydrases I and II.

PubMed ID: 17407288

DOI: 10.1021/ja068359w

PubMed ID: 6781336

Title: Population genetic studies of the Philippine Negritos. III. Identification of the carbonic anhydrase-1 variant with CA1 Guam.

PubMed ID: 6781336

PubMed ID: 7866410

Title: Marked zinc activation of ester hydrolysis by a mutation, 67-His (CAT) to Arg (CGT), in the active site of human carbonic anhydrase I.

PubMed ID: 7866410

DOI: 10.1002/humu.1380040411

Sequence Information:

  • Length: 261
  • Mass: 28870
  • Checksum: 4959E5FA25E374F8
  • Sequence:
    • MASPDWGYDD KNGPEQWSKL YPIANGNNQS PVDIKTSETK HDTSLKPISV SYNPATAKEI 
INVGHSFHVN FEDNDNRSVL KGGPFSDSYR LFQFHFHWGS TNEHGSEHTV DGVKYSAELH 
VAHWNSAKYS SLAEAASKAD GLAVIGVLMK VGEANPKLQK VLDALQAIKT KGKRAPFTNF 
DPSTLLPSSL DFWTYPGSLT HPPLYESVTW IICKESISVS SEQLAQFRSL LSNVEGDNAV 
PMQHNNRPTQ PLKGRTVRAS F

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.