CLCA1 chloride channel accessory 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLCA1provided by HGNC
Official Full Name: chloride channel accessory 1provided by HGNC
Primary source: HGNC:HGNC:2015
See related: Ensembl:ENSG00000016490 MIM:603906; AllianceGenome:HGNC:2015
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: CACC; GOB5; CACC1; CLCRG1; CaCC-1; hCLCA1; hCaCC-1
Summary: This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]
Expression: Biased expression in small intestine (RPKM 634.9), duodenum (RPKM 392.5) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (86468927..86500259)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (86308943..86340288)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (86934610..86965942)

Chromosome 1 - NC_000001.11 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 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?

Rab7-dependent regulation of goblet cell protein CLCA1 modulates gastrointestinal homeostasis.
Title: Rab7-dependent regulation of goblet cell protein CLCA1 modulates gastrointestinal homeostasis.
CLCA1 exacerbates lung inflammation via p38 MAPK pathway in acute respiratory distress syndrome.
Title: CLCA1 exacerbates lung inflammation via p38 MAPK pathway in acute respiratory distress syndrome.
Structural and Biophysical Analysis of the CLCA1 VWA Domain Suggests Mode of TMEM16A Engagement.
Title: Structural and Biophysical Analysis of the CLCA1 VWA Domain Suggests Mode of TMEM16A Engagement.
SDR16C5 and SDR16C6 enzymes are not critical for survival but are responsible for most of the retinol dehydrogenase activity in skin, essential for the regulation of the hair-follicle cycle, and required for the maintenance of both sebaceous and meibomian glands
Title: Calcium-activated chloride channel regulator 1 (CLCA1) forms non-covalent oligomers in colonic mucus and has mucin 2-processing properties.
Results suggest that CLCA1 is involved in intestinal mucus homeostasis by facilitating processing and removal of mucus to prevent stagnation.
Title: Calcium-activated Chloride Channel Regulator 1 (CLCA1) Controls Mucus Expansion in Colon by Proteolytic Activity.
CLCA1 suppresses colorectal cancer aggressiveness via inhibition of the Wnt/beta-catenin signaling pathway
Title: CLCA1 suppresses colorectal cancer aggressiveness via inhibition of the Wnt/beta-catenin signaling pathway.
Increase in TMEM16A activity occurred within minutes of exposure to CLCA1 or after a short treatment with nocodazole, consistent with the hypothesis that CLCA1 stabilizes TMEM16A at the cell surface by preventing its internalization.
Title: Modulation of TMEM16A channel activity by the von Willebrand factor type A (VWA) domain of the calcium-activated chloride channel regulator 1 (CLCA1).
Data show that calcium-activated chloride channel regulator 1 (CLCA1) and transmembrane protein 16A (TMEM16A) co-localize and physically interact and that CLCA1 increases the level of TMEM16A protein at the cell surface.
Title: Secreted CLCA1 modulates TMEM16A to activate Ca(2+)-dependent chloride currents in human cells.
inhibitor and siRNA transfection studies demonstrated an apparent effect of CLCA1 on ovarian cancer cell aggregation
Title: Comparative Proteomics of Ovarian Cancer Aggregate Formation Reveals an Increased Expression of Calcium-activated Chloride Channel Regulator 1 (CLCA1).
Results confirmed that the low expression of CLCA1 in CRC was associated with tumorigenesis, early metastasis, and high chromosomal instability. Low expression of CLCA1 predicts recurrence and lower survival.
Title: Low expression of chloride channel accessory 1 predicts a poor prognosis in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 from both CCR5- and CXCR4-tropic HIV-1 strains opens calcium-activated potassium (K(Ca)), chloride, and calcium-permeant nonselective cation channels in macrophages; these signals are mediated by CCR5 and CXCR4	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride channel activity	TAS Traceable Author Statement more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in calcium ion transport	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microvillus	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	TAS Traceable Author Statement more info
located_in zymogen granule membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calcium-activated chloride channel regulator 1

Names: CLCA family member 1, chloride channel regulator; calcium-activated chloride channel family member 1; calcium-activated chloride channel protein 1; calcium-dependent chloride channel-1; chloride channel regulator 1; chloride channel, calcium activated, family member 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_001285.4 → NP_001276.3 calcium-activated chloride channel regulator 1 precursor

Status: REVIEWED

Source sequence(s)

AF127036, AL122002, DA428844

Consensus CDS

CCDS709.1

UniProtKB/Swiss-Prot

A8K7I4, B2RAV5, O95151, Q5TDF4, Q9UNF6, Q9UPC6

Related

ENSP00000378200.1, ENST00000394711.2

Conserved Domains (1) summary

TIGR00868
Location:1 → 861

hCaCC; calcium-activated chloride channel protein 1