CA9 carbonic anhydrase 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CA9provided by HGNC
Official Full Name: carbonic anhydrase 9provided by HGNC
Primary source: HGNC:HGNC:1383
See related: Ensembl:ENSG00000107159 MIM:603179; AllianceGenome:HGNC:1383
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: MN; CAIX
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 IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
Expression: Biased expression in stomach (RPKM 43.2), gall bladder (RPKM 17.1) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (35673928..35681159)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (35694579..35701811)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (35673925..35681156)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aerobic vaginitis is associated with carbonic anhydrase IX in cervical intraepithelial neoplasia.
Title: Aerobic vaginitis is associated with carbonic anhydrase IX in cervical intraepithelial neoplasia.
Spatial transcriptomic analysis of tumour with high and low CAIX expression in TNBC tissue samples using GeoMxtrade mark RNA assay.
Title: Spatial transcriptomic analysis of tumour with high and low CAIX expression in TNBC tissue samples using GeoMx™ RNA assay.
LncRNA ZNF674-AS1 drives cell growth and inhibits cisplatin-induced pyroptosis via up-regulating CA9 in neuroblastoma.
Title: LncRNA ZNF674-AS1 drives cell growth and inhibits cisplatin-induced pyroptosis via up-regulating CA9 in neuroblastoma.
A Carbonic Anhydrase IX/SLC1A5 Axis Regulates Glutamine Metabolism Dependent Ferroptosis in Hypoxic Tumor Cells.
Title: A Carbonic Anhydrase IX/SLC1A5 Axis Regulates Glutamine Metabolism Dependent Ferroptosis in Hypoxic Tumor Cells.
Functional consequences of altered glycosylation of tumor-associated hypoxia biomarker carbonic anhydrase IX.
Title: Functional consequences of altered glycosylation of tumor-associated hypoxia biomarker carbonic anhydrase IX.
IGFL2-AS1-induced suppression of HIF-1alpha degradation promotes cell proliferation and invasion in colorectal cancer by upregulating CA9.
Title: IGFL2-AS1-induced suppression of HIF-1α degradation promotes cell proliferation and invasion in colorectal cancer by upregulating CA9.
The relationship between carbonic anhydrase IX (CAIX) and patient survival in breast cancer: systematic review and meta-analysis.
Title: The relationship between carbonic anhydrase IX (CAIX) and patient survival in breast cancer: systematic review and meta-analysis.
CA-IX-Expressing Small Extracellular Vesicles (sEVs) Are Released by Melanoma Cells under Hypoxia and in the Blood of Advanced Melanoma Patients.
Title: CA-IX-Expressing Small Extracellular Vesicles (sEVs) Are Released by Melanoma Cells under Hypoxia and in the Blood of Advanced Melanoma Patients.
Carbonic Anhydrase IX in Tumor Tissue and Plasma of Breast Cancer Patients: Reliable Biomarker of Hypoxia and Prognosis.
Title: Carbonic Anhydrase IX in Tumor Tissue and Plasma of Breast Cancer Patients: Reliable Biomarker of Hypoxia and Prognosis.
ADAM10 mediates shedding of carbonic anhydrase IX ectodomain nonredundantly to ADAM17.
Title: ADAM10 mediates shedding of carbonic anhydrase IX ectodomain non‑redundantly to ADAM17.

Submit: New GeneRIF Correction See all GeneRIFs (327)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CA9	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X66839 (e-PCR)
- UniSTS:39090

RH66792 (e-PCR)
- UniSTS:35309

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbonate dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbonate dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables carbonate dehydratase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables molecular function activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in morphogenesis of an epithelium	IEA Inferred from Electronic Annotation more info
involved_in one-carbon metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in microvillus membrane	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
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

General protein information

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Preferred Names: carbonic anhydrase 9

Names: CA-IX; P54/58N; RCC-associated antigen G250; RCC-associated protein G250; carbonate dehydratase IX; carbonic anhydrase IX; carbonic dehydratase; membrane antigen MN; pMW1; renal cell carcinoma-associated antigen G250

NP_001207.2

EC 4.2.1.1

XP_047279805.1

EC 4.2.1.1

XP_047279806.1

EC 4.2.1.1

XP_054219735.1

EC 4.2.1.1

XP_054219736.1

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_001216.3 → NP_001207.2 carbonic anhydrase 9 precursor

See identical proteins and their annotated locations for NP_001207.2

Status: REVIEWED

Source sequence(s)

AI023541, AL554705, X66839

Consensus CDS

CCDS6585.1

UniProtKB/Swiss-Prot

Q16790, Q5T4R1

UniProtKB/TrEMBL

A0A0S2Z3D0

Related

ENSP00000367608.4, ENST00000378357.9

Conserved Domains (1) summary

cd03150
Location:145 → 391

alpha_CA_IX; Carbonic anhydrase alpha, isozyme IX. 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, followed ...