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CA4 carbonic anhydrase 4 [ Homo sapiens (human) ]

Gene ID: 762, updated on 5-Aug-2018

Summary

Official Symbol
CA4provided by HGNC
Official Full Name
carbonic anhydrase 4provided by HGNC
Primary source
HGNC:HGNC:1375
See related
Ensembl:ENSG00000167434 MIM:114760; Vega:OTTHUMG00000179987
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAIV; Car4; RP17
Summary
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 23.2), fat (RPKM 10.2) and 9 other tissues See more
Orthologs

Genomic context

See CA4 in Genome Data Viewer
Location:
17q23.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (60149936..60179021)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58227302..58236907)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 1 sigma 2 subunit pseudogene Neighboring gene uncharacterized LOC100996660 Neighboring gene family with sequence similarity 106 member D, pseudogene Neighboring gene ubiquitin specific peptidase 32 Neighboring gene small Cajal body-specific RNA 20 Neighboring gene ribosomal protein L32 pseudogene 32

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystem (from REACTOME)
    Erythrocytes take up carbon dioxide and release oxygen, organism-specific biosystemCarbon dioxide (CO2) in plasma is hydrated to yield protons (H+) and bicarbonate (HCO3-) by carbonic anhydrase IV (CA4) located on the apical plasma membranes of endothelial cells. Plasma CO2 is also...
  • Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystem (from REACTOME)
    Erythrocytes take up oxygen and release carbon dioxide, organism-specific biosystemErythrocytes circulating through the capillaries of the lung must exchange carbon dioxide (CO2) for oxygen (O2) during their short (0.5-1 sec.) transit time in pulmonary tissue (Reviewed in Jensen 20...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Nitrogen metabolism, organism-specific biosystem (from KEGG)
    Nitrogen metabolism, organism-specific biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • Nitrogen metabolism, conserved biosystem (from KEGG)
    Nitrogen metabolism, conserved biosystemThe biological process of the nitrogen cycle is a complex interplay among many microorganisms catalyzing different reactions, where nitrogen is found in various oxidation states ranging from +5 in ni...
  • O2/CO2 exchange in erythrocytes, organism-specific biosystem (from REACTOME)
    O2/CO2 exchange in erythrocytes, organism-specific biosystemIn capillaries of the lungs erythrocytes release carbon dioxide (CO2) and acquire oxygen (O2). In other tissues of the body the reverse reaction occurs (reviewed in Nikinmaa 1997, Jensen 2004).In the...
  • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
    Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
  • Reversible hydration of carbon dioxide, organism-specific biosystem (from REACTOME)
    Reversible hydration of carbon dioxide, organism-specific biosystemCarbonic anhydrases reversibly catalyze the hydration of carbon dioxide and directly produce bicarbonate and protons, bypassing the formation of carbonic acid (reviewed in Lindskog 1997, Breton 2001,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbonate dehydratase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicarbonate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
bicarbonate transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
anchored component of external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
NOT basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
transport vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
carbonic anhydrase 4
Names
CA-IV
carbonate dehydratase IV
carbonic anhydrase IV
carbonic dehydratase IV
NP_000708.1
XP_005257696.1
XP_011523485.1
XP_016880501.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012050.2 RefSeqGene

    Range
    4996..14606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000717.4NP_000708.1  carbonic anhydrase 4 preproprotein

    See identical proteins and their annotated locations for NP_000708.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.
    Source sequence(s)
    AI990988, BC057792, BC074768
    Consensus CDS
    CCDS11624.1
    UniProtKB/Swiss-Prot
    P22748
    Related
    ENSP00000300900.3, OTTHUMP00000263079, ENST00000300900.8, OTTHUMT00000449189
    Conserved Domains (1) summary
    cd03117
    Location:48283
    alpha_CA_IV_XV_like; Carbonic anhydrase alpha, CA_IV, CA_XV, like isozymes. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

RNA

  1. NR_137422.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains several alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC025048

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    60149936..60179021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257639.3XP_005257696.1  carbonic anhydrase 4 isoform X1

    See identical proteins and their annotated locations for XP_005257696.1

    Conserved Domains (1) summary
    cd03117
    Location:48307
    alpha_CA_IV_XV_like; Carbonic anhydrase alpha, CA_IV, CA_XV, like isozymes. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...
  2. XM_011525183.2XP_011523485.1  carbonic anhydrase 4 isoform X2

    Conserved Domains (1) summary
    cl00012
    Location:1217
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...
  3. XM_017025012.1XP_016880501.1  carbonic anhydrase 4 isoform X3

    UniProtKB/Swiss-Prot
    P22748
    Conserved Domains (1) summary
    cl00012
    Location:1193
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

RNA

  1. XR_001752604.2 RNA Sequence

  2. XR_001752607.2 RNA Sequence

  3. XR_001752608.2 RNA Sequence

  4. XR_001752609.2 RNA Sequence

  5. XR_001752605.2 RNA Sequence

  6. XR_001752606.2 RNA Sequence

  7. XR_001752610.2 RNA Sequence

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