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UniProtKB - O43570 (CAH12_HUMAN)

Entry version 194 (02 Dec 2020)
Sequence version 1 (01 Jun 1998)
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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 CO21 Publication

    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

    <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 12 (EC:4.2.1.1)
    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:CA12
    <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

    Eukaryotic Pathogen and Host Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000074410.13

    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

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    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 mutations 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 mutation

    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

    Polymorphism and mutation 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

    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

    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 214 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)

    <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, 14 interactors

    Protein interaction database and analysis system

    More...    IntActi    		O43570, 14 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

    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    		TALYCTD

    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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><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; ENSP00000178638; ENSG00000074410 [O43570-1]
    ENST00000344366; ENSP00000343088; ENSG00000074410 [O43570-2]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		771

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:771

    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[»]
    SMRiO43570
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi107225, 14 interactors
    IntActiO43570, 14 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
    iPTMnetiO43570
    PhosphoSitePlusiO43570

    Polymorphism and mutation databases

    BioMutaiCA12

    Proteomic databases

    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, 501 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		771

    Genome annotation databases

    EnsembliENST00000178638; ENSP00000178638; ENSG00000074410 [O43570-1]
    ENST00000344366; ENSP00000343088; ENSG00000074410 [O43570-2]
    GeneIDi771
    KEGGihsa:771
    UCSCiuc002amc.4, human [O43570-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		771
    DisGeNETi771
    EuPathDBiHostDB:ENSG00000074410.13

    GeneCards: human genes, protein and diseases

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

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0382, Eukaryota
    GeneTreeiENSGT00940000159282
    HOGENOMiCLU_039326_1_2_1
    InParanoidiO43570
    OMAiTALYCTD
    OrthoDBi1377476at2759
    PhylomeDBiO43570
    TreeFamiTF316425

    Enzyme and pathway databases

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

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		771, 5 hits in 841 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 214 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

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    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: December 2, 2020
    This is version 194 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 polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families
    5. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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