Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1207
Gene name Gene Name - the full gene name approved by the HGNC.
Chloride nucleotide-sensitive channel 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLNS1A
Synonyms (NCBI Gene) Gene synonyms aliases
CLCI, CLNS1B, ICln
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activa
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031611 hsa-miR-16-5p Proteomics 18668040
MIRT048993 hsa-miR-92a-3p CLASH 23622248
MIRT452165 hsa-miR-1245b-5p PAR-CLIP 23592263
MIRT452164 hsa-miR-3142 PAR-CLIP 23592263
MIRT452163 hsa-miR-1295b-3p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000387 Process Spliceosomal snRNP assembly IDA 18984161
GO:0000387 Process Spliceosomal snRNP assembly TAS
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 11756452, 16087681, 18984161, 21081503, 21988832, 22365833, 25416956, 28514442, 32296183
GO:0005634 Component Nucleus IDA 21081503
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602158 2080 ENSG00000074201
Protein
UniProt ID P54105
Protein name Methylosome subunit pICln (Chloride channel, nucleotide sensitive 1A) (Chloride conductance regulatory protein ICln) (I(Cln)) (Chloride ion current inducer protein) (ClCI) (Reticulocyte pICln)
Protein function Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins (PubMed:10330151, PubMed:11713266, PubMed:18984161, PubMed:21081503). Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear r
PDB 6V0O , 9E3A , 9E3B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03517 Voldacs 35 164 Regulator of volume decrease after cellular swelling Domain
Sequence
MSFLKSFPPPGPAEGLLRQQPDTEAVLNGKGLGTGTLYIAESRLSWLDGSGLGFSLEYPT
ISLHALSRDRSDCLGEHLYVMVNAKFEEESKEPVADEEEEDSDDDVEPITEFRFVPSDKS
ALEAMFTAMCECQALHPDPEDEDSDDYDGEEYDVEAHEQGQGDI
PTFYTYEEGLSHLTAE
GQATLERLEGMLSQSVSSQYNMAGVRTEDSIRDYEDGMEVDTTPTVAGQFEDADVDH
Sequence length 237
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    snRNP Assembly
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
22535842