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Protein

Carbonic anhydrase 5A, mitochondrial

Gene

CA5A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Reversible hydration of carbon dioxide. Low activity.

Catalytic activityi

H2CO3 = CO2 + H2O.

Cofactori

Zn2+By similarity

Enzyme regulationi

Activated by histamine, L-adrenaline, L- and D-histidine, and L- and D-phenylalanine. Inhibited by coumarins, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt).7 Publications

Kineticsi

  1. KM=10.0 mM for CO21 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi130Zinc; catalyticBy similarity1
    Metal bindingi132Zinc; catalyticBy similarity1
    Metal bindingi155Zinc; catalyticBy similarity1
    Active sitei164By similarity1

    GO - Molecular functioni

    GO - Biological processi

    Keywordsi

    Molecular functionLyase
    LigandMetal-binding, Zinc

    Enzyme and pathway databases

    BRENDAi4.2.1.1 2681
    ReactomeiR-HSA-1475029 Reversible hydration of carbon dioxide
    SABIO-RKP35218

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Carbonic anhydrase 5A, mitochondrial (EC:4.2.1.1)
    Alternative name(s):
    Carbonate dehydratase VA
    Carbonic anhydrase VA
    Short name:
    CA-VA
    Gene namesi
    Name:CA5A
    Synonyms:CA5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 16

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000174990.4
    HGNCiHGNC:1377 CA5A
    MIMi114761 gene
    neXtProtiNX_P35218

    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

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis.
    See also OMIM:615751
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_071188233S → P in CA5AD; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs587777316EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi763
    MalaCardsiCA5A
    MIMi615751 phenotype
    OpenTargetsiENSG00000174990
    Orphaneti401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
    PharmGKBiPA25992

    Chemistry databases

    ChEMBLiCHEMBL4789
    DrugBankiDB03385 4-Methylimidazole
    DB01194 Brinzolamide
    DB08846 Ellagic Acid
    DB00909 Zonisamide

    Polymorphism and mutation databases

    BioMutaiCA5A
    DMDMi461680

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Transit peptidei1 – 38MitochondrionAdd BLAST38
    ChainiPRO_000000423439 – 305Carbonic anhydrase 5A, mitochondrialAdd BLAST267

    Proteomic databases

    MaxQBiP35218
    PaxDbiP35218
    PeptideAtlasiP35218
    PRIDEiP35218

    PTM databases

    iPTMnetiP35218
    PhosphoSitePlusiP35218

    Expressioni

    Gene expression databases

    BgeeiENSG00000174990
    CleanExiHS_CA5A
    GenevisibleiP35218 HS

    Interactioni

    Protein-protein interaction databases

    BioGridi107218, 5 interactors
    STRINGi9606.ENSP00000309649

    Chemistry databases

    BindingDBiP35218

    Structurei

    3D structure databases

    ProteinModelPortaliP35218
    SMRiP35218
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini39 – 296Alpha-carbonic anhydrasePROSITE-ProRule annotationAdd BLAST258

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni235 – 236Substrate bindingBy similarity2

    Sequence similaritiesi

    Belongs to the alpha-carbonic anhydrase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiKOG0382 Eukaryota
    COG3338 LUCA
    GeneTreeiENSGT00760000118915
    HOGENOMiHOG000112637
    HOVERGENiHBG002837
    InParanoidiP35218
    KOiK01672
    OMAiNNFRPPM
    OrthoDBiEOG091G0XFM
    PhylomeDBiP35218
    TreeFamiTF316425

    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
    PANTHERiPTHR18952 PTHR18952, 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

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P35218-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MLGRNTWKTS AFSFLVEQMW APLWSRSMRP GRWCSQRSCA WQTSNNTLHP
    60 70 80 90 100
    LWTVPVSVPG GTRQSPINIQ WRDSVYDPQL KPLRVSYEAA SCLYIWNTGY
    110 120 130 140 150
    LFQVEFDDAT EASGISGGPL ENHYRLKQFH FHWGAVNEGG SEHTVDGHAY
    160 170 180 190 200
    PAELHLVHWN SVKYQNYKEA VVGENGLAVI GVFLKLGAHH QTLQRLVDIL
    210 220 230 240 250
    PEIKHKDARA AMRPFDPSTL LPTCWDYWTY AGSLTTPPLT ESVTWIIQKE
    260 270 280 290 300
    PVEVAPSQLS AFRTLLFSAL GEEEKMMVNN YRPLQPLMNR KVWASFQATN

    EGTRS
    Length:305
    Mass (Da):34,750
    Last modified:February 1, 1994 - v1
    Checksum:iC4E998D269AB1FE5
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_071188233S → P in CA5AD; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs587777316EnsemblClinVar.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    L19297 mRNA Translation: AAA02890.1
    U25134 Genomic DNA Translation: AAC99806.1
    S80181
    , S80175, S80176, S80177, S80178, S80240, S80180 Genomic DNA Translation: AAB47048.1
    CH471114 Genomic DNA Translation: EAW95372.1
    BC137405 mRNA Translation: AAI37406.1
    BC137411 mRNA Translation: AAI37412.1
    CCDSiCCDS10965.1
    PIRiA47745 CRHU5
    RefSeqiNP_001730.1, NM_001739.1
    UniGeneiHs.177446

    Genome annotation databases

    EnsembliENST00000309893; ENSP00000309649; ENSG00000174990
    GeneIDi763
    KEGGihsa:763
    UCSCiuc002fkn.2 human

    Similar proteinsi

    Entry informationi

    Entry nameiCAH5A_HUMAN
    AccessioniPrimary (citable) accession number: P35218
    Secondary accession number(s): B2RPF2
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
    Last sequence update: February 1, 1994
    Last modified: May 23, 2018
    This is version 156 of the entry and version 1 of the sequence. See complete history.
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

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