CA14 carbonic anhydrase 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA14provided by HGNC
Official Full Name: carbonic anhydrase 14provided by HGNC
Primary source: HGNC:HGNC:1372
See related: Ensembl:ENSG00000118298 MIM:604832; AllianceGenome:HGNC:1372
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: CAXiV
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. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 3.3), skin (RPKM 1.4) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (150257774..150265078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (149382687..149389995)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (150230169..150237478)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate that carbonic anhydrase isoform XIV (hCA XIV) shows high sequence identity with the other membrane-associated carbonic anhydrases (hCAs).
Title: The structural comparison between membrane-associated human carbonic anhydrases provides insights into drug design of selective inhibitors.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Results indicate that some derivatives showed potent hCA IX and hCA XIV inhibitory effects at nanomolar concentrations as well as low affinity for the ubiquitous hCA II.
Title: Identification of 3,4-Dihydroisoquinoline-2(1H)-sulfonamides as potent carbonic anhydrase inhibitors: synthesis, biological evaluation, and enzyme--ligand X-ray studies.
No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA.
Title: Familial pure proximal renal tubular acidosis--a clinical and genetic study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31751 (e-PCR)
- UniSTS:5665

SHGC-32182 (e-PCR)
- UniSTS:7100

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: carbonic anhydrase 14

Names: CA-XIV; carbonate dehydratase XIV; carbonic anhydrase XIV; carbonic dehydratase

NP_036245.1

EC 4.2.1.1

XP_005245116.1

EC 4.2.1.1

XP_005245117.1

EC 4.2.1.1

XP_006711322.1

EC 4.2.1.1

XP_006711324.1

EC 4.2.1.1

XP_011507681.1

EC 4.2.1.1

XP_016856383.1

EC 4.2.1.1

XP_054191705.1

EC 4.2.1.1

XP_054191706.1

EC 4.2.1.1

XP_054191707.1

EC 4.2.1.1

XP_054191708.1

EC 4.2.1.1

XP_054191709.1

EC 4.2.1.1

XP_054191710.1

EC 4.2.1.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_012113.3 → NP_036245.1 carbonic anhydrase 14 precursor

See identical proteins and their annotated locations for NP_036245.1

Status: REVIEWED

Source sequence(s)

AB025904, AK315469, BP361793

Consensus CDS

CCDS947.1

UniProtKB/Swiss-Prot

Q5TB24, Q8NCF4, Q9ULX7

UniProtKB/TrEMBL

A8K3J4

Related

ENSP00000358107.3, ENST00000369111.9

Conserved Domains (1) summary

cd03126
Location:29 → 278

alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

150257774..150265078

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011509379.4 → XP_011507681.1 carbonic anhydrase 14 isoform X2

Conserved Domains (2) summary

cl00012
Location:50 → 264

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 ...

cl23791
Location:277 → 308

UPF0154; uncharacterized protein family (UPF0154)
XM_005245060.4 → XP_005245117.1 carbonic anhydrase 14 isoform X3

Conserved Domains (1) summary

cd03126
Location:29 → 278

alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...
XM_005245059.4 → XP_005245116.1 carbonic anhydrase 14 isoform X1

See identical proteins and their annotated locations for XP_005245116.1

Conserved Domains (1) summary

cd03126
Location:29 → 278

alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...
XM_006711259.4 → XP_006711322.1 carbonic anhydrase 14 isoform X4

Conserved Domains (1) summary

cd03126
Location:29 → 278

alpha_CA_XII_XIV; Carbonic anhydrase alpha, isozymes XII and XIV. 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 dioxide, ...
XM_017000894.3 → XP_016856383.1 carbonic anhydrase 14 isoform X6
XM_006711261.4 → XP_006711324.1 carbonic anhydrase 14 isoform X5

Conserved Domains (2) summary

cl00012
Location:8 → 222

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 ...

cl23791
Location:235 → 266

UPF0154; uncharacterized protein family (UPF0154)