Details for: CA5A

Gene ID: 763

Symbol: CA5A

Ensembl ID: ENSG00000174990

Description: carbonic anhydrase 5A

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: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.71
    Marker Score: 3545
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1171
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.51
    Marker Score: 4931
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.37
    Marker Score: 8788
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.33
    Marker Score: 7138
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.32
    Marker Score: 2690
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.32
    Marker Score: 5686
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.17
    Marker Score: 18282
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.16
    Marker Score: 698
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.16
    Marker Score: 7029
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71831
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48056
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5274
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.9
    Marker Score: 375
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.84
    Marker Score: 384.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.81
    Marker Score: 1543
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.8
    Marker Score: 1890
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.79
    Marker Score: 378
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.74
    Marker Score: 234
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2962
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.68
    Marker Score: 219
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.55
    Marker Score: 353
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.5
    Marker Score: 299
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.5
    Marker Score: 340
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.46
    Marker Score: 495
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.4
    Marker Score: 177
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.4
    Marker Score: 22105
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.36
    Marker Score: 703
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.35
    Marker Score: 509
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.34
    Marker Score: 128
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.31
    Marker Score: 80
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.28
    Marker Score: 282
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.28
    Marker Score: 157
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.24
    Marker Score: 12448
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.23
    Marker Score: 72
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.22
    Marker Score: 84
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.2
    Marker Score: 126
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.19
    Marker Score: 51
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.18
    Marker Score: 1201
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.18
    Marker Score: 73
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.18
    Marker Score: 53
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.18
    Marker Score: 327
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.18
    Marker Score: 158
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.17
    Marker Score: 114
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.15
    Marker Score: 56
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.15
    Marker Score: 70
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 0.15
    Marker Score: 467
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.14
    Marker Score: 131
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.14
    Marker Score: 63
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.13
    Marker Score: 85
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.13
    Marker Score: 40
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.13
    Marker Score: 90
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.13
    Marker Score: 277
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.12
    Marker Score: 72
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.12
    Marker Score: 923
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.12
    Marker Score: 188
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.12
    Marker Score: 64.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.11
    Marker Score: 682
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.11
    Marker Score: 77
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.11
    Marker Score: 467
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.11
    Marker Score: 107
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.11
    Marker Score: 46
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.1
    Marker Score: 56
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1
    Marker Score: 259
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.1
    Marker Score: 99
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.1
    Marker Score: 85
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1
    Marker Score: 57
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.1
    Marker Score: 149
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1
    Marker Score: 43
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.1
    Marker Score: 33
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.09
    Marker Score: 19
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.09
    Marker Score: 122
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.09
    Marker Score: 61
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.09
    Marker Score: 38
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.09
    Marker Score: 107
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.09
    Marker Score: 88
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.09
    Marker Score: 316
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.09
    Marker Score: 99
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.09
    Marker Score: 229
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.09
    Marker Score: 37
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.08
    Marker Score: 110

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Other Information

**Key characteristics:** - CAH5A is a single-pass transmembrane protein with a molecular weight of approximately 130 kDa. - It is found in the cytoplasm and mitochondrial matrix. - It is a key enzyme in the one-carbon metabolic process, which involves the interconversion of carbon dioxide and water to produce bicarbonate. **Pathways and functions:** - The primary pathway of action for CAH5A is the dehydrogenation of carbon dioxide to produce bicarbonate. - This process is essential for the maintenance of acid-base balance in the body. - CAH5A also participates in the regulation of cellular respiration, as it is involved in the transfer of carbon dioxide from the blood into the mitochondria for energy production. **Clinical significance:** - Mutations in the CAH5A gene have been linked to various human diseases, including kidney diseases, liver diseases, and cancer. - In kidney disease, mutations in CAH5A can lead to the accumulation of carbon dioxide in the blood, resulting in metabolic acidosis and kidney damage. - Mutations in CAH5A have also been linked to the development of certain types of cancer, such as hepatocellular carcinoma and colon cancer. **Additional information:** - The CAH5A gene is highly expressed in the proximal convoluted tubule epithelial cell, colon goblet cell, hepatoblast, centrilobular region hepatocyte, periportal region hepatocyte, immature innate lymphoid cell, midzonal region hepatocyte, and intestinal crypt stem cell of small intestine. - This expression pattern suggests that CAH5A plays a role in the regulation of carbon dioxide metabolism in various tissues. - CAH5A is a promising target for the treatment of human diseases involving carbon dioxide metabolism, such as kidney disease and cancer.

Genular Protein ID: 2454406713

Symbol: CAH5A_HUMAN

Name: Carbonate dehydratase VA

UniProtKB Accession Codes:

P35218 B2RPF2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 1 EMBL 12 Ensembl 1 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 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 RNAct 1 Reactome 1 RefSeq 1 Rhea 3 SABIO-RK 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8356065

Title: Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16.

PubMed ID: 8356065

DOI: 10.1073/pnas.90.16.7623

PubMed ID: 7490083

Title: Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p.

PubMed ID: 7490083

DOI: 10.1006/geno.1995.1177

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: 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: 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: 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: 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: 24530203

Title: Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

PubMed ID: 24530203

DOI: 10.1016/j.ajhg.2014.01.006

Sequence Information:

  • Length: 305
  • Mass: 34750
  • Checksum: C4E998D269AB1FE5
  • Sequence:
    • MLGRNTWKTS AFSFLVEQMW APLWSRSMRP GRWCSQRSCA WQTSNNTLHP LWTVPVSVPG 
GTRQSPINIQ WRDSVYDPQL KPLRVSYEAA SCLYIWNTGY LFQVEFDDAT EASGISGGPL 
ENHYRLKQFH FHWGAVNEGG SEHTVDGHAY PAELHLVHWN SVKYQNYKEA VVGENGLAVI 
GVFLKLGAHH QTLQRLVDIL PEIKHKDARA AMRPFDPSTL LPTCWDYWTY AGSLTTPPLT 
ESVTWIIQKE PVEVAPSQLS AFRTLLFSAL GEEEKMMVNN YRPLQPLMNR KVWASFQATN 
EGTRS

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.