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CA4 carbonic anhydrase 4 [ Homo sapiens (human) ]

Gene ID: 762, updated on 17-Sep-2024

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; AllianceGenome:HGNC:1375
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
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Genomic context

See CA4 in Genome Data Viewer
Location:
17q23.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60149973..60179021)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (61018933..61047969)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58227334..58256382)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58190476-58191424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58191425-58192371 Neighboring gene adaptor related protein complex 1 subunit sigma 2 pseudogene Neighboring gene uncharacterized LOC100996660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58216417-58216950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58217485-58218018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:58218675-58219231 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:58219938-58220447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58232505-58233005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58235149-58235978 Neighboring gene Sharpr-MPRA regulatory region 8996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12527 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 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbonate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in bicarbonate transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
NOT located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in secretory granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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_047292606.1
XP_047292607.1
XP_047292608.1
XP_047292609.1
XP_047292610.1
XP_047292611.1
XP_047292612.1
XP_054173029.1
XP_054173030.1
XP_054173031.1
XP_054173032.1
XP_054173033.1
XP_054173034.1
XP_054173035.1
XP_054173036.1
XP_054173037.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    5033..14606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000717.5NP_000708.1  carbonic anhydrase 4 preproprotein

    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
    B4DQA4, P22748, Q6FHI7
    Related
    ENSP00000300900.3, ENST00000300900.9
    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_137422.2 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    60149973..60179021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436650.1XP_047292606.1  carbonic anhydrase 4 isoform X1

  2. XM_047436652.1XP_047292608.1  carbonic anhydrase 4 isoform X1

  3. XM_047436651.1XP_047292607.1  carbonic anhydrase 4 isoform X1

  4. XM_047436653.1XP_047292609.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  5. XM_047436655.1XP_047292611.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  6. XM_047436654.1XP_047292610.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  7. XM_047436656.1XP_047292612.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  8. XM_005257639.4XP_005257696.1  carbonic anhydrase 4 isoform X1

    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 ...
  9. XM_011525183.3XP_011523485.1  carbonic anhydrase 4 isoform X3

    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    61018933..61047969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317055.1XP_054173030.1  carbonic anhydrase 4 isoform X1

  2. XM_054317057.1XP_054173032.1  carbonic anhydrase 4 isoform X1

  3. XM_054317056.1XP_054173031.1  carbonic anhydrase 4 isoform X1

  4. XM_054317058.1XP_054173033.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  5. XM_054317060.1XP_054173035.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  6. XM_054317059.1XP_054173034.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  7. XM_054317061.1XP_054173036.1  carbonic anhydrase 4 isoform X2

    UniProtKB/Swiss-Prot
    B4DQA4, P22748, Q6FHI7
  8. XM_054317054.1XP_054173029.1  carbonic anhydrase 4 isoform X1

  9. XM_054317062.1XP_054173037.1  carbonic anhydrase 4 isoform X3