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UniProtKB - O43570 (CAH12_HUMAN)

Entry version 200 (25 May 2022)
Sequence version 1 (01 Jun 1998)
Previous versions | rss
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Protein

Carbonic anhydrase 12

Gene

CA12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Reversible hydration of carbon dioxide.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA), benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene-sulfonamide ethyl ester, 4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium salt).6 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=12.0 mM for CO22 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei94Proton donor/acceptorBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi119Zinc; catalytic1 Publication1
Metal bindingi121Zinc; catalytic1 Publication1
Metal bindingi145Zinc; catalytic1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLyase
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		4.2.1.1, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43570

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1475029, Reversible hydration of carbon dioxide

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O43570

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Carbonic anhydrase 12Curated (EC:4.2.1.11 Publication)
Alternative name(s):
Carbonate dehydratase XII
Carbonic anhydrase XII
Short name:
CA-XII
Tumor antigen HOM-RCC-3.1.3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CA12Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1371, CA12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603263, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43570

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000074410

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini25 – 301ExtracellularSequence analysisAdd BLAST277
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei302 – 322HelicalSequence analysisAdd BLAST21
Topological domaini323 – 354CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hyperchlorhidrosis, isolated (HYCHL)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081182121H → Q in HYCHL; severe decrease of activity in the presence of physiological NaCl concentrations; no effect on localization to cell membrane. 1 PublicationCorresponds to variant dbSNP:rs775067652EnsemblClinVar.1
Natural variantiVAR_065292143E → K in HYCHL; severe decrease of activity in the presence of physiological NaCl concentrations; mutant enzyme is highly inhibited by acetazolamide and shows higher sensitivity to inhibition by anions compared to wild-type; the mutation affects the chloride-mediated negative feedback regulation of the enzyme leading to excessive chloride secretion in sweat; no effect on localization to cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs267606694EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		771

MalaCards human disease database

More...MalaCardsi		CA12
MIMi143860, phenotype

Open Targets

More...OpenTargetsi		ENSG00000074410

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		542657, Isolated hyperchlorhidrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25987

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43570, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3242

Drug and drug target database

More...DrugBanki		DB00819, Acetazolamide
DB00562, Benzthiazide
DB08846, Ellagic acid
DB00774, Hydroflumethiazide
DB00909, Zonisamide

DrugCentral

More...DrugCentrali		O43570

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2747

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CA12

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000424825 – 354Carbonic anhydrase 12Add BLAST330

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi28N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi50 ↔ 2301 Publication
Glycosylationi80N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi162N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O43570

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43570

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43570

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43570

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O43570

PeptideAtlas

More...PeptideAtlasi		O43570

PRoteomics IDEntifications database

More...PRIDEi		O43570

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49059 [O43570-1]
49060 [O43570-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1064, 1 N-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O43570, 3 sites, 1 N-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43570

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O43570

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis. Expressed in sweat glands and bronchiolar epithelium (PubMed:26911677).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000074410, Expressed in cortex of kidney and 215 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43570, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43570, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000074410, Tissue enhanced (kidney, skin)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107225, 22 interactors

Protein interaction database and analysis system

More...IntActi		O43570, 15 interactors

Molecular INTeraction database

More...MINTi		O43570

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000178638

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O43570

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43570, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1354
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O43570

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O43570

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O43570

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 289Alpha-carbonic anhydrasePROSITE-ProRule annotationAdd BLAST260

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni226 – 227Substrate bindingBy similarity2

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the alpha-carbonic anhydrase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0382, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159282

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_039326_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43570

Identification of Orthologs from Complete Genome Data

More...OMAi		SKWSYIG

Database of Orthologous Groups

More...OrthoDBi		1377476at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43570

TreeFam database of animal gene trees

More...TreeFami		TF316425

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.10.200.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001148, CA_dom
IPR036398, CA_dom_sf
IPR023561, Carbonic_anhydrase_a-class
IPR018338, Carbonic_anhydrase_a-class_CS
IPR018430, Carbonic_anhydrase_CA12

The PANTHER Classification System

More...PANTHERi		PTHR18952, PTHR18952, 1 hit
PTHR18952:SF19, PTHR18952:SF19, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00194, Carb_anhydrase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01057, Carb_anhydrase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51069, SSF51069, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00162, ALPHA_CA_1, 1 hit
PS51144, ALPHA_CA_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O43570-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPRRSLHAAA VLLLVILKEQ PSSPAPVNGS KWTYFGPDGE NSWSKKYPSC 
        60         70         80         90        100
GGLLQSPIDL HSDILQYDAS LTPLEFQGYN LSANKQFLLT NNGHSVKLNL 
       110        120        130        140        150
PSDMHIQGLQ SRYSATQLHL HWGNPNDPHG SEHTVSGQHF AAELHIVHYN 
       160        170        180        190        200
SDLYPDASTA SNKSEGLAVL AVLIEMGSFN PSYDKIFSHL QHVKYKGQEA 
       210        220        230        240        250
FVPGFNIEEL LPERTAEYYR YRGSLTTPPC NPTVLWTVFR NPVQISQEQL 
       260        270        280        290        300
LALETALYCT HMDDPSPREM INNFRQVQKF DERLVYTSFS QVQVCTAAGL 
       310        320        330        340        350
SLGIILSLAL AGILGICIVV VVSIWLFRRK SIKKGDNKGV IYKPATKMET 

EAHA
Length:354
Mass (Da):39,451
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9016216BF2CA6C0C
GO
Isoform 2 (identifier: O43570-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     292-302: Missing.

Show »
Length:343
Mass (Da):38,408
Checksum:i87FD35255B137D18
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KUB4B3KUB4_HUMAN
Carbonic anhydrase
CA12 hCG_2003428
283Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti305I → T in BAG38121 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081182121H → Q in HYCHL; severe decrease of activity in the presence of physiological NaCl concentrations; no effect on localization to cell membrane. 1 PublicationCorresponds to variant dbSNP:rs775067652EnsemblClinVar.1
Natural variantiVAR_065292143E → K in HYCHL; severe decrease of activity in the presence of physiological NaCl concentrations; mutant enzyme is highly inhibited by acetazolamide and shows higher sensitivity to inhibition by anions compared to wild-type; the mutation affects the chloride-mediated negative feedback regulation of the enzyme leading to excessive chloride secretion in sweat; no effect on localization to cell membrane. 3 PublicationsCorresponds to variant dbSNP:rs267606694EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_000772292 – 302Missing in isoform 2. 2 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF051882 mRNA Translation: AAC39789.1
AF037335 mRNA Translation: AAC63952.1
BT006656 mRNA Translation: AAP35302.1
AK315769 mRNA Translation: BAG38121.1
BC000278 mRNA Translation: AAH00278.1
BC011691 mRNA Translation: AAH11691.1
BC023981 mRNA Translation: AAH23981.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10185.1 [O43570-1]
CCDS10186.1 [O43570-2]

NCBI Reference Sequences

More...RefSeqi		NP_001209.1, NM_001218.4 [O43570-1]
NP_996808.1, NM_206925.2 [O43570-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000178638.8; ENSP00000178638.3; ENSG00000074410.14
ENST00000344366.7; ENSP00000343088.3; ENSG00000074410.14 [O43570-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		771

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:771

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000178638.8; ENSP00000178638.3; NM_001218.5; NP_001209.1

UCSC genome browser

More...UCSCi		uc002amc.4, human [O43570-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF051882 mRNA Translation: AAC39789.1
AF037335 mRNA Translation: AAC63952.1
BT006656 mRNA Translation: AAP35302.1
AK315769 mRNA Translation: BAG38121.1
BC000278 mRNA Translation: AAH00278.1
BC011691 mRNA Translation: AAH11691.1
BC023981 mRNA Translation: AAH23981.1
CCDSiCCDS10185.1 [O43570-1]
CCDS10186.1 [O43570-2]
RefSeqiNP_001209.1, NM_001218.4 [O43570-1]
NP_996808.1, NM_206925.2 [O43570-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JCZX-ray1.55A/B30-291[»]
1JD0X-ray1.50A/B30-291[»]
4HT2X-ray1.45A/B/C/D30-291[»]
4KP5X-ray1.45A/B/C/D30-291[»]
4KP8X-ray1.80A/B/C/D30-291[»]
4Q0LX-ray2.00A/B/C/D30-291[»]
4QJ0X-ray1.55A/B/C/D30-291[»]
4QJOX-ray1.80A/B/C/D30-291[»]
4QJWX-ray1.55A/B/C/D30-291[»]
4WW8X-ray1.42A/B/C/D30-291[»]
5LL5X-ray1.42A/B/C/D30-291[»]
5LL9X-ray1.45A/B/C/D30-291[»]
5LLOX-ray1.60A/B/C/D30-291[»]
5LLPX-ray1.48A/B/C/D30-291[»]
5MSAX-ray1.20A/B/C/D30-291[»]
5MSBX-ray1.30A/B/C/D30-291[»]
6G5LX-ray1.21A/B/C/D30-291[»]
6G7AX-ray1.42A/B/C/D30-291[»]
6QN0X-ray1.89A/B/C/D30-291[»]
6QNGX-ray1.67A/B/C/D30-291[»]
6QNLX-ray1.53A/B/C/D30-291[»]
6R6YX-ray1.38A/B/C/D30-291[»]
6R71X-ray2.00A/B30-291[»]
6RPSX-ray2.79A/B31-291[»]
6T5PX-ray1.50A/B/C/D30-291[»]
6T5QX-ray1.80A/B/C/D30-291[»]
7PUUX-ray1.51A/B/C/D30-291[»]
7PUVX-ray1.40A/B/C/D30-291[»]
7PUWX-ray1.42A/B/C/D30-291[»]
AlphaFoldDBiO43570
SMRiO43570
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107225, 22 interactors
IntActiO43570, 15 interactors
MINTiO43570
STRINGi9606.ENSP00000178638

Chemistry databases

BindingDBiO43570
ChEMBLiCHEMBL3242
DrugBankiDB00819, Acetazolamide
DB00562, Benzthiazide
DB08846, Ellagic acid
DB00774, Hydroflumethiazide
DB00909, Zonisamide
DrugCentraliO43570
GuidetoPHARMACOLOGYi2747

PTM databases

GlyConnecti1064, 1 N-Linked glycan (1 site)
GlyGeniO43570, 3 sites, 1 N-linked glycan (1 site)
iPTMnetiO43570
PhosphoSitePlusiO43570

Genetic variation databases

BioMutaiCA12

Proteomic databases

EPDiO43570
jPOSTiO43570
MassIVEiO43570
MaxQBiO43570
PaxDbiO43570
PeptideAtlasiO43570
PRIDEiO43570
ProteomicsDBi49059 [O43570-1]
49060 [O43570-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		O43570, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2237, 525 antibodies from 33 providers

The DNASU plasmid repository

More...DNASUi		771

Genome annotation databases

EnsembliENST00000178638.8; ENSP00000178638.3; ENSG00000074410.14
ENST00000344366.7; ENSP00000343088.3; ENSG00000074410.14 [O43570-2]
GeneIDi771
KEGGihsa:771
MANE-SelectiENST00000178638.8; ENSP00000178638.3; NM_001218.5; NP_001209.1
UCSCiuc002amc.4, human [O43570-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		771
DisGeNETi771

GeneCards: human genes, protein and diseases

More...GeneCardsi		CA12
HGNCiHGNC:1371, CA12
HPAiENSG00000074410, Tissue enhanced (kidney, skin)
MalaCardsiCA12
MIMi143860, phenotype
603263, gene
neXtProtiNX_O43570
OpenTargetsiENSG00000074410
Orphaneti542657, Isolated hyperchlorhidrosis
PharmGKBiPA25987
VEuPathDBiHostDB:ENSG00000074410

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0382, Eukaryota
GeneTreeiENSGT00940000159282
HOGENOMiCLU_039326_1_2_1
InParanoidiO43570
OMAiSKWSYIG
OrthoDBi1377476at2759
PhylomeDBiO43570
TreeFamiTF316425

Enzyme and pathway databases

BRENDAi4.2.1.1, 2681
PathwayCommonsiO43570
ReactomeiR-HSA-1475029, Reversible hydration of carbon dioxide
SignaLinkiO43570

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		771, 14 hits in 1073 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CA12, human
EvolutionaryTraceiO43570

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CA12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		771
PharosiO43570, Tclin

Protein Ontology

More...PROi		PR:O43570
RNActiO43570, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000074410, Expressed in cortex of kidney and 215 other tissues
ExpressionAtlasiO43570, baseline and differential
GenevisibleiO43570, HS

Family and domain databases

Gene3Di3.10.200.10, 1 hit
InterProiView protein in InterPro
IPR001148, CA_dom
IPR036398, CA_dom_sf
IPR023561, Carbonic_anhydrase_a-class
IPR018338, Carbonic_anhydrase_a-class_CS
IPR018430, Carbonic_anhydrase_CA12
PANTHERiPTHR18952, PTHR18952, 1 hit
PTHR18952:SF19, PTHR18952:SF19, 1 hit
PfamiView protein in Pfam
PF00194, Carb_anhydrase, 1 hit
SMARTiView protein in SMART
SM01057, Carb_anhydrase, 1 hit
SUPFAMiSSF51069, SSF51069, 1 hit
PROSITEiView protein in PROSITE
PS00162, ALPHA_CA_1, 1 hit
PS51144, ALPHA_CA_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCAH12_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43570
Secondary accession number(s): B2RE24, Q53YE5, Q9BWG2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: May 25, 2022
This is version 200 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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