CLCA1 (chloride channel accessory 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1179
Gene name Chloride channel accessory 1
Gene symbol CLCA1
Synonyms (NCBI Gene)
CACCCACC1CLCRG1CaCC-1GOB5hCLCA1hCaCC-1
Chromosome 1
Chromosome location 1p22.3
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,
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IBA
GO:0005229 Function Intracellularly calcium-gated chloride channel activity IEA
GO:0005254 Function Chloride channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603906 2015 ENSG00000016490
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8K7I4
Protein name Calcium-activated chloride channel regulator 1 (EC 3.4.-.-) (Calcium-activated chloride channel family member 1) (hCLCA1) (Calcium-activated chloride channel protein 1) (CaCC-1) (hCaCC-1)
Protein 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 gobl
PDB 6PYO , 6PYX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08434 CLCA 25 → 289 Calcium-activated chloride channel N terminal Family
PF13519 VWA_2 307 → 414 von Willebrand factor type A domain Domain
Tissue specificity 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 p
Sequence 
MGPFKSSVFILILHLLEGALSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQA
SLYLLEATGKRFYFKNVAILIPETWKTKADYVRPKLETYKNADVLVAESTPPGNDEPYTE
QMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAHLRWGVFDEYNNDEKFYLSNG
RIQAVRCSAGITGTNVVKKCQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFA
QHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMTTQPPNPTFSLL
QIGQRIVCLVLDKSGSMATGNRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELI
QINSGSDRDTLAKRLPAAASGGTSICSGLRSAFTVIRKKYPTDGSEIVLLTDGEDNTISG
CFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLIDAFGALSSGNG
AVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQG
GFVVDKNTKMAYLQIPGIAKVGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKD
TSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTLELLDNGAGADATKDDGVYSR
YFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDD
VQHKQVCFSRTSSGGSFVASDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDY
DHGTAHKYIIRISTSILDLRDKFNESLQVNTTALIPKEANSEEVFLFKPENITFENGTDL
FIAIQAVDKVDLKSEISNIARVSLFIPPQTPPETPSPDETSAPCPNIHINSTIPGIHILK
IMWKWIGELQLSIA
Sequence length 914
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Renin secretion
Pancreatic secretion 		  Stimuli-sensing channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (46)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 11296262, 11842292, 11956057, 15318163, 15345696, 15879574, 16364194, 17698377, 17898169, 22731784, 24075231, 25091434, 30952704
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma LHGDN 15318163, 16148052
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 17898169 Stimulate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 23112050, 24075231, 25781344, 28701525, 28933920, 31903716, 32460303, 34106513, 35550122, 37241840 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 11445004
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchitis Chronic Bronchitis Pubtator 15875066 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 30419838 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 26004777, 30952704
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic lung disease Lung Diseases BEFREE 31333624
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease LHGDN 14985398
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations