Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Carbonic anhydrase 4

Gene

CA4

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. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 ‘Function’ 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

Activated by histamine, L-adrenaline, D-phenylalanine, L- and D-histidine. Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt).8 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=21.5 mM for CO21 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ 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 sitei88Proton acceptorBy similarity1
    <p>This subsection of the ‘Function’ 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 bindingi115Zinc; catalytic1 Publication1
    Metal bindingi117Zinc; catalytic1 Publication1
    Metal bindingi140Zinc; 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

    GO - Biological processi

    • bicarbonate transport Source: DFLAT

    <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

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen
    R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide
    R-HSA-1475029 Reversible hydration of carbon dioxide

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P22748

    <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_and_taxonomy_section">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 4 (EC:4.2.1.1)
    Alternative name(s):
    Carbonate dehydratase IV
    Carbonic anhydrase IV
    Short name:
    CA-IV
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:CA4
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 17

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000167434.9

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:1375 CA4

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    114760 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P22748

    <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; Source: COMPARTMENTS

    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

    Retinitis pigmentosa 17 (RP17)3 Publications
    The disease is caused by mutations affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.
    Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
    See also OMIM:600852
    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_07143012A → T in RP17. 1 Publication1
    Natural variantiVAR_02474914R → W in RP17; abolishes interaction with SLC4A4; impaired SLC4A4 cotransporter activity stimulation. 1 PublicationCorresponds to variant dbSNP:rs104894559EnsemblClinVar.1
    Natural variantiVAR_07143169R → H in RP17; has no effect on catalytic activity; loss of interaction with SLC4A4. 1 PublicationCorresponds to variant dbSNP:rs121434552EnsemblClinVar.1
    Natural variantiVAR_024750219R → S in RP17; no catalytic activity; impaired SLC4A4 cotransporter activity stimulation. 1 PublicationCorresponds to variant dbSNP:rs121434551EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi284S → F: Loss of C-terminal domain removal and inactivation. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Retinitis pigmentosa

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    762

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    CA4

    MalaCards human disease database

    More...
    MalaCardsi
    CA4
    MIMi600852 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000167434

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

    More...
    Orphaneti
    791 Retinitis pigmentosa

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA25991

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3729

    Drug and drug target database

    More...
    DrugBanki
    DB00819 Acetazolamide
    DB00436 Bendroflumethiazide
    DB00562 Benzthiazide
    DB01194 Brinzolamide
    DB00880 Chlorothiazide
    DB00606 Cyclothiazide
    DB01144 Diclofenamide
    DB00869 Dorzolamide
    DB08846 Ellagic Acid
    DB00311 Ethoxzolamide
    DB00999 Hydrochlorothiazide
    DB00774 Hydroflumethiazide
    DB00703 Methazolamide
    DB00232 Methyclothiazide
    DB09460 Sodium carbonate
    DB00273 Topiramate
    DB01021 Trichlormethiazide
    DB00909 Zonisamide

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...
    GuidetoPHARMACOLOGYi
    2599

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    CA4

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    115465

    <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 – 181 PublicationAdd BLAST18
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000422619 – 284Carbonic anhydrase 4Add BLAST266
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000004227285 – 312Removed in mature formAdd BLAST28

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <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 bondi24 ↔ 361 Publication
    Disulfide bondi46 ↔ 2291 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi284GPI-anchor amidated serine1 Publication1

    Keywords - PTMi

    Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P22748

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

    More...
    PaxDbi
    P22748

    PeptideAtlas

    More...
    PeptideAtlasi
    P22748

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P22748

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    54034

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P22748

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

    More...
    PhosphoSitePlusi
    P22748

    <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

    Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000167434 Expressed in 201 organ(s), highest expression level in mucosa of transverse colon

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_CA4

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P22748 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P22748 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA011089
    HPA017258

    <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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Interacts with SLC4A4.4 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    107217, 7 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P22748, 4 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000300900

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    P22748

    <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

    1312
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    P22748

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

    More...
    SMRi
    P22748

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...
    EvolutionaryTracei
    P22748

    <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_and_domains_section">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>Domaini21 – 285Alpha-carbonic anhydrasePROSITE-ProRule annotationAdd BLAST265

    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>Regioni225 – 226Substrate 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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG0382 Eukaryota
    COG3338 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000155690

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000112637

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG002837

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P22748

    KEGG Orthology (KO)

    More...
    KOi
    K18246

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    ESHWCYE

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G0XFM

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P22748

    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
    IPR018343 Carbonic_anhydrase_CA4

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR18952 PTHR18952, 1 hit
    PTHR18952:SF95 PTHR18952:SF95, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: P22748-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' 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
    MRMLLALLAL SAARPSASAE SHWCYEVQAE SSNYPCLVPV KWGGNCQKDR
    60 70 80 90 100
    QSPINIVTTK AKVDKKLGRF FFSGYDKKQT WTVQNNGHSV MMLLENKASI
    110 120 130 140 150
    SGGGLPAPYQ AKQLHLHWSD LPYKGSEHSL DGEHFAMEMH IVHEKEKGTS
    160 170 180 190 200
    RNVKEAQDPE DEIAVLAFLV EAGTQVNEGF QPLVEALSNI PKPEMSTTMA
    210 220 230 240 250
    ESSLLDLLPK EEKLRHYFRY LGSLTTPTCD EKVVWTVFRE PIQLHREQIL
    260 270 280 290 300
    AFSQKLYYDK EQTVSMKDNV RPLQQLGQRT VIKSGAPGRP LPWALPALLG
    310
    PMLACLLAGF LR
    Length:312
    Mass (Da):35,032
    Last modified:August 1, 1992 - v2
    <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:iEF5F182474ABE9B0
    GO
    Isoform 2 (identifier: P22748-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         90-106: VMMLLENKASISGGGLP → GWNPGERGLPATGGGTV
         107-312: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:106
    Mass (Da):11,599
    Checksum:i0149FBF9A98FFF2B
    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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    K7EKY5K7EKY5_HUMAN
    Carbonic anhydrase 4
    CA4
    184Annotation 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>
    K7EIH9K7EIH9_HUMAN
    Carbonic anhydrase 4
    CA4
    99Annotation score:

    Annotation score:1 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>
    K7ENI8K7ENI8_HUMAN
    Carbonic anhydrase 4
    CA4
    38Annotation score:

    Annotation score:1 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 conflicti24C → E AA sequence (PubMed:2111324).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07143012A → T in RP17. 1 Publication1
    Natural variantiVAR_02474914R → W in RP17; abolishes interaction with SLC4A4; impaired SLC4A4 cotransporter activity stimulation. 1 PublicationCorresponds to variant dbSNP:rs104894559EnsemblClinVar.1
    Natural variantiVAR_07143169R → H in RP17; has no effect on catalytic activity; loss of interaction with SLC4A4. 1 PublicationCorresponds to variant dbSNP:rs121434552EnsemblClinVar.1
    Natural variantiVAR_071432177N → K1 PublicationCorresponds to variant dbSNP:rs185942554EnsemblClinVar.1
    Natural variantiVAR_024750219R → S in RP17; no catalytic activity; impaired SLC4A4 cotransporter activity stimulation. 1 PublicationCorresponds to variant dbSNP:rs121434551EnsemblClinVar.1
    Natural variantiVAR_048680237V → L. Corresponds to variant dbSNP:rs2229178EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05597390 – 106VMMLL…GGGLP → GWNPGERGLPATGGGTV in isoform 2. 1 PublicationAdd BLAST17
    Alternative sequenceiVSP_055974107 – 312Missing in isoform 2. 1 PublicationAdd BLAST206

    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
    M83670 mRNA Translation: AAA35630.1
    L10955
    , L10951, L10953, L10954 Genomic DNA Translation: AAA35625.1 Sequence problems.
    L10955, L10954 Genomic DNA Translation: AAA35626.1 Sequence problems.
    AK289715 mRNA Translation: BAF82404.1
    AK298710 mRNA Translation: BAG60866.1
    CR541766 mRNA Translation: CAG46565.1
    AC025048 Genomic DNA No translation available.
    CH471109 Genomic DNA Translation: EAW94362.1
    BC057792 mRNA Translation: AAH57792.1
    BC069649 mRNA Translation: AAH69649.1
    BC074768 mRNA Translation: AAH74768.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS11624.1 [P22748-1]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    A45745 CRHU4

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_000708.1, NM_000717.4 [P22748-1]
    XP_016880501.1, XM_017025012.1

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.89485

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000300900; ENSP00000300900; ENSG00000167434 [P22748-1]
    ENST00000586876; ENSP00000467465; ENSG00000167434 [P22748-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    762

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:762

    UCSC genome browser

    More...
    UCSCi
    uc002iym.5 human [P22748-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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
    M83670 mRNA Translation: AAA35630.1
    L10955
    , L10951, L10953, L10954 Genomic DNA Translation: AAA35625.1 Sequence problems.
    L10955, L10954 Genomic DNA Translation: AAA35626.1 Sequence problems.
    AK289715 mRNA Translation: BAF82404.1
    AK298710 mRNA Translation: BAG60866.1
    CR541766 mRNA Translation: CAG46565.1
    AC025048 Genomic DNA No translation available.
    CH471109 Genomic DNA Translation: EAW94362.1
    BC057792 mRNA Translation: AAH57792.1
    BC069649 mRNA Translation: AAH69649.1
    BC074768 mRNA Translation: AAH74768.1
    CCDSiCCDS11624.1 [P22748-1]
    PIRiA45745 CRHU4
    RefSeqiNP_000708.1, NM_000717.4 [P22748-1]
    XP_016880501.1, XM_017025012.1
    UniGeneiHs.89485

    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
    1ZNCX-ray2.80A/B19-284[»]
    3F7BX-ray2.05A/B19-284[»]
    3F7UX-ray2.00A/B/C/D19-284[»]
    3FW3X-ray1.72A/B19-284[»]
    5IPZX-ray2.10A/B/C/D19-284[»]
    5JN8X-ray1.85A/B/C/D19-284[»]
    5JN9X-ray2.10A/B/C/D19-284[»]
    5JNAX-ray2.00A/B/C/D19-284[»]
    5JNCX-ray2.00A/B/C/D19-284[»]
    5KU6X-ray1.80A/B/C/D19-284[»]
    ProteinModelPortaliP22748
    SMRiP22748
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi107217, 7 interactors
    IntActiP22748, 4 interactors
    STRINGi9606.ENSP00000300900

    Chemistry databases

    BindingDBiP22748
    ChEMBLiCHEMBL3729
    DrugBankiDB00819 Acetazolamide
    DB00436 Bendroflumethiazide
    DB00562 Benzthiazide
    DB01194 Brinzolamide
    DB00880 Chlorothiazide
    DB00606 Cyclothiazide
    DB01144 Diclofenamide
    DB00869 Dorzolamide
    DB08846 Ellagic Acid
    DB00311 Ethoxzolamide
    DB00999 Hydrochlorothiazide
    DB00774 Hydroflumethiazide
    DB00703 Methazolamide
    DB00232 Methyclothiazide
    DB09460 Sodium carbonate
    DB00273 Topiramate
    DB01021 Trichlormethiazide
    DB00909 Zonisamide
    GuidetoPHARMACOLOGYi2599

    PTM databases

    iPTMnetiP22748
    PhosphoSitePlusiP22748

    Polymorphism and mutation databases

    BioMutaiCA4
    DMDMi115465

    Proteomic databases

    EPDiP22748
    PaxDbiP22748
    PeptideAtlasiP22748
    PRIDEiP22748
    ProteomicsDBi54034

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    762
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000300900; ENSP00000300900; ENSG00000167434 [P22748-1]
    ENST00000586876; ENSP00000467465; ENSG00000167434 [P22748-2]
    GeneIDi762
    KEGGihsa:762
    UCSCiuc002iym.5 human [P22748-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    762
    DisGeNETi762
    EuPathDBiHostDB:ENSG00000167434.9

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    CA4
    GeneReviewsiCA4
    HGNCiHGNC:1375 CA4
    HPAiHPA011089
    HPA017258
    MalaCardsiCA4
    MIMi114760 gene
    600852 phenotype
    neXtProtiNX_P22748
    OpenTargetsiENSG00000167434
    Orphaneti791 Retinitis pigmentosa
    PharmGKBiPA25991

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG0382 Eukaryota
    COG3338 LUCA
    GeneTreeiENSGT00940000155690
    HOGENOMiHOG000112637
    HOVERGENiHBG002837
    InParanoidiP22748
    KOiK18246
    OMAiESHWCYE
    OrthoDBiEOG091G0XFM
    PhylomeDBiP22748
    TreeFamiTF316425

    Enzyme and pathway databases

    BRENDAi4.2.1.1 2681
    ReactomeiR-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen
    R-HSA-1247673 Erythrocytes take up oxygen and release carbon dioxide
    R-HSA-1475029 Reversible hydration of carbon dioxide
    SABIO-RKiP22748

    Miscellaneous databases

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

    More...
    ChiTaRSi
    CA4 human
    EvolutionaryTraceiP22748

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    Carbonic_anhydrase_4

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

    More...
    GenomeRNAii
    762

    Protein Ontology

    More...
    PROi
    PR:P22748

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000167434 Expressed in 201 organ(s), highest expression level in mucosa of transverse colon
    CleanExiHS_CA4
    ExpressionAtlasiP22748 baseline and differential
    GenevisibleiP22748 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
    IPR018343 Carbonic_anhydrase_CA4
    PANTHERiPTHR18952 PTHR18952, 1 hit
    PTHR18952:SF95 PTHR18952:SF95, 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...

    <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 nameiCAH4_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: P22748
    Secondary accession number(s): B4DQA4, Q6FHI7
    <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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: August 1, 1992
    Last modified: December 5, 2018
    This is version 195 of the entry and version 2 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, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

    We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

    Do not show this banner again