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Aliases for CLCA1 Gene

Aliases for CLCA1 Gene

  • Chloride Channel Accessory 1 2 3 5
  • Chloride Channel, Calcium Activated, Family Member 1 2 3
  • Calcium-Activated Chloride Channel Family Member 1 3 4
  • Calcium-Activated Chloride Channel Protein 1 3 4
  • Chloride Channel Regulator 1 2 3
  • HCaCC-1 3 4
  • CaCC-1 3 4
  • HCLCA1 3 4
  • CACC1 3 4
  • CLCA Family Member 1, Chloride Channel Regulator 3
  • Calcium-Activated Chloride Channel Regulator 1 3
  • Calcium-Dependent Chloride Channel-1 3
  • EC 3.4.-.- 4
  • CLCRG1 3
  • CACC 3
  • GOB5 3

External Ids for CLCA1 Gene

Previous GeneCards Identifiers for CLCA1 Gene

  • GC01P087436
  • GC01P086103
  • GC01P086226
  • GC01P086356
  • GC01P086646
  • GC01P086934
  • GC01P085045

Summaries for CLCA1 Gene

Entrez Gene Summary for CLCA1 Gene

  • 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]

GeneCards Summary for CLCA1 Gene

CLCA1 (Chloride Channel Accessory 1) is a Protein Coding gene. Diseases associated with CLCA1 include Cystic Fibrosis and Meconium Ileus. Among its related pathways are Hepatic ABC Transporters and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity and intracellular calcium activated chloride channel activity. An important paralog of this gene is CLCA4.

UniProtKB/Swiss-Prot for CLCA1 Gene

  • May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC.

Tocris Summary for CLCA1 Gene

  • Chloride channels are a family of anion-selective channels involved in a diverse range of biological processes including the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell volume regulation, transepithelial salt transport, the acidification of intra- and extracellular compartments.

Gene Wiki entry for CLCA1 Gene

Additional gene information for CLCA1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCA1 Gene

Genomics for CLCA1 Gene

GeneHancer (GH) Regulatory Elements for CLCA1 Gene

Promoters and enhancers for CLCA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J086468 Promoter 0.6 EPDnew 650.7 +0.5 540 0.1 GABPA CLCA1 LOC105378827
GH01J086428 Enhancer 1 Ensembl ENCODE 11.2 -38.4 -38423 2.3 RFX5 SCRT2 ETV6 ATF7 CEBPB ZNF398 ELF1 SP1 ATF4 MAFF ODF2L CLCA2 CLCA1
GH01J086501 Enhancer 0.9 Ensembl ENCODE 11.2 +34.8 34831 2.5 SCRT1 CTCF USF1 RB1 NR2F1 TRIM22 REST RAD21 FOSL1 SP1 LOC105378827 CLCA2 CLCA1
GH01J086423 Promoter/Enhancer 0.8 EPDnew ENCODE 10.9 -43.8 -43813 2.8 STAT1 CLCA2 ODF2L CLCA1
GH01J086388 Enhancer 0.2 ENCODE 11 -78.9 -78928 1.4 ODF2L CLCA2 CLCA1 GC01P086383
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLCA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLCA1 gene promoter:

Genomic Locations for CLCA1 Gene

Genomic Locations for CLCA1 Gene
chr1:86,468,368-86,500,294
(GRCh38/hg38)
Size:
31,927 bases
Orientation:
Plus strand
chr1:86,934,051-86,965,977
(GRCh37/hg19)

Genomic View for CLCA1 Gene

Genes around CLCA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCA1 Gene

Proteins for CLCA1 Gene

  • Protein details for CLCA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8K7I4-CLCA1_HUMAN
    Recommended name:
    Calcium-activated chloride channel regulator 1
    Protein Accession:
    A8K7I4
    Secondary Accessions:
    • B2RAV5
    • O95151
    • Q5TDF4
    • Q9UNF6
    • Q9UPC6

    Protein attributes for CLCA1 Gene

    Size:
    914 amino acids
    Molecular mass:
    100226 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CLCA1 Gene

Post-translational modifications for CLCA1 Gene

  • Glycosylated.
  • The 125-kDa product is autoproteolytically processed by the metalloprotease domain and yields to two cell-surface-associated subunits, a 90-kDa protein and a group of 37-to 41-kDa proteins. The cleavage is necessary for calcium-activated chloride channel (CaCC) activation activity.
  • Glycosylation at Asn890, posLast=836836, Asn831, posLast=810810, Asn804, posLast=770770, Asn585, and posLast=503503
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLCA1 Gene

Domains & Families for CLCA1 Gene

Gene Families for CLCA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for CLCA1 Gene

Suggested Antigen Peptide Sequences for CLCA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8K7I4

UniProtKB/Swiss-Prot:

CLCA1_HUMAN :
  • The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA substrates.
  • Belongs to the CLCR family.
Domain:
  • The metalloprotease region is responsible for autoproteolytic processing. It can also cross-cleave other CLCA substrates.
Family:
  • Belongs to the CLCR family.
genes like me logo Genes that share domains with CLCA1: view

Function for CLCA1 Gene

Molecular function for CLCA1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC.
UniProtKB/Swiss-Prot Induction:
By IL13/interleukin-13 in tracheobronchial epithelial cells. Up-regulated by histamine in a dose-dependent manner. Significantly down-regulated in colorectal cancer. Significantly up-regulated in the IL9-responsive mucus-producing epithelium of asthmatic patients. Significantly decreased in nasal polyp. Significantly increased by TNF in upper airway mucosa.
GENATLAS Biochemistry:
chloride channel Ca2+ activated families member 1,outwardly rectifying,exclusively expressed in intestinal basal crypt,epithelia and goblet cells

Enzyme Numbers (IUBMB) for CLCA1 Gene

Phenotypes From GWAS Catalog for CLCA1 Gene

Gene Ontology (GO) - Molecular Function for CLCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0005229 intracellular calcium activated chloride channel activity IBA --
GO:0005254 chloride channel activity TAS 9828122
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with CLCA1: view
genes like me logo Genes that share phenotypes with CLCA1: view

Animal Models for CLCA1 Gene

MGI Knock Outs for CLCA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CLCA1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCA1

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CLCA1 Gene

Localization for CLCA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCA1 Gene

Secreted, extracellular space. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Protein that remains attached to the plasma membrane appeared to be predominantly localized to microvilli.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CLCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9828122
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with CLCA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLCA1 Gene

Pathways & Interactions for CLCA1 Gene

genes like me logo Genes that share pathways with CLCA1: view

Gene Ontology (GO) - Biological Process for CLCA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with CLCA1: view

No data available for SIGNOR curated interactions for CLCA1 Gene

Drugs & Compounds for CLCA1 Gene

(11) Drugs for CLCA1 Gene - From: ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Talniflumate Approved Pharma CaCC blocker and Cl-/HCO3- exchange inhibitor 0
CaCCinh-A01 Pharma 0
Eact Pharma Activator of Ca2+-activated Cl- channel transmembrane protein 16A (TMEM16A) 0
T16Ainh - A01 Pharma 0
CFTRinh 172 Pharma Voltage-independent, selective CFTR chloride channel blocker 0

(3) Additional Compounds for CLCA1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GlyH 101
328541-79-3

(4) Tocris Compounds for CLCA1 Gene

Compound Action Cas Number
CFTRinh 172 Voltage-independent, selective CFTR chloride channel blocker 307510-92-5
DCEBIO Activates Cl- conductance and hKCa3.1 channels 60563-36-2
GlyH 101 Reversible, voltage-dependent CFTR chloride channel blocker 328541-79-3
PPQ 102 Potent, voltage-independent CFTR chloride channel inhibitor 931706-15-9

(4) ApexBio Compounds for CLCA1 Gene

Compound Action Cas Number
CaCCinh-A01 407587-33-1
Eact 461000-66-8
T16Ainh - A01 552309-42-9
Talniflumate 66898-62-2
genes like me logo Genes that share compounds with CLCA1: view

Drug Products

Transcripts for CLCA1 Gene

mRNA/cDNA for CLCA1 Gene

(48) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CLCA1 Gene

Chloride channel accessory 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCA1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLCA1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: - -
SP3: -

Relevant External Links for CLCA1 Gene

GeneLoc Exon Structure for
CLCA1
ECgene alternative splicing isoforms for
CLCA1

Expression for CLCA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLCA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCA1 Gene

This gene is overexpressed in Colon - Transverse (x30.4) and Small Intestine - Terminal Ileum (x21.7).

Protein differential expression in normal tissues from HIPED for CLCA1 Gene

This gene is overexpressed in Fetal gut (27.8), Pancreatic juice (20.8), Colon (9.2), and Rectum (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLCA1 Gene



Protein tissue co-expression partners for CLCA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLCA1 Gene:

CLCA1

SOURCE GeneReport for Unigene cluster for CLCA1 Gene:

Hs.194659

mRNA Expression by UniProt/SwissProt for CLCA1 Gene:

A8K7I4-CLCA1_HUMAN
Tissue specificity: Highly expressed in small intestine and colon namely in intestinal basal crypt epithelia and goblet cells, and appendix. Weakly expressed in uterus, testis and kidney. Expressed in the airways epithelium of both asthmatic and healthy patients. Expressed in the bronchial epithelium, especially in mucus-producing goblet cells. Expressed in normal turbinate mucosa and nasal polyp. Expressed in.

Evidence on tissue expression from TISSUES for CLCA1 Gene

  • Intestine(4.9)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with CLCA1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCA1 Gene

Orthologs for CLCA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLCA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLCA1 34 33
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CLCA1 34 33
  • 85.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLCA1 34 33
  • 84.75 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Clca3 34 33
  • 78.36 (n)
OneToOne
Clca1 16
rat
(Rattus norvegicus)
Mammalia Clca1 33
  • 77.63 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 67 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 57 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 45 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii clca1 34
  • 37 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
Species where no ortholog for CLCA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLCA1 Gene

ENSEMBL:
Gene Tree for CLCA1 (if available)
TreeFam:
Gene Tree for CLCA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCA1: view image

Paralogs for CLCA1 Gene

Paralogs for CLCA1 Gene

(2) SIMAP similar genes for CLCA1 Gene using alignment to 1 proteins:

  • CLCA1_HUMAN
genes like me logo Genes that share paralogs with CLCA1: view

Variants for CLCA1 Gene

Sequence variations from dbSNP and Humsavar for CLCA1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000010598 -- 86,478,028(+) C/T intron_variant
rs1000026722 -- 86,478,856(+) G/T intron_variant
rs1000092037 -- 86,478,393(+) C/T intron_variant
rs1000097483 -- 86,472,513(+) G/A intron_variant
rs1000182904 -- 86,494,421(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CLCA1 Gene

Variant ID Type Subtype PubMed ID
esv2714396 CNV deletion 23290073
esv3582026 CNV gain 25503493
nsv1119701 CNV deletion 24896259

Variation tolerance for CLCA1 Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCA1 Gene

Human Gene Mutation Database (HGMD)
CLCA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCA1 Gene

Disorders for CLCA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CLCA1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
meconium ileus
  • intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency
bestrophinopathy
  • bestrophinopathy, autosomal recessive
pulmonary disease, chronic obstructive
  • copd
asthma
  • asthma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CLCA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLCA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CLCA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLCA1 Gene

Publications for CLCA1 Gene

  1. Association of the hCLCA1 gene with childhood and adult asthma. (PMID: 15318163) Kamada F … Matsubara Y (Genes and immunity 2004) 3 22 44 58
  2. Genomic cloning, molecular characterization, and functional analysis of human CLCA1, the first human member of the family of Ca2+-activated Cl- channel proteins. (PMID: 9828122) Gruber AD … Pauli BU (Genomics 1998) 2 3 4 58
  3. Self-cleavage of human CLCA1 protein by a novel internal metalloprotease domain controls calcium-activated chloride channel activation. (PMID: 23112050) Yurtsever Z … Brett TJ (The Journal of biological chemistry 2012) 3 4 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58

Products for CLCA1 Gene

Sources for CLCA1 Gene

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