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Aliases for CLNS1A Gene

Aliases for CLNS1A Gene

  • Chloride Channel, Nucleotide-Sensitive, 1A 2 3
  • Chloride Conductance Regulatory Protein ICln 3 4
  • Chloride Channel, Nucleotide Sensitive 1A 3 4
  • Chloride Ion Current Inducer Protein 3 4
  • Reticulocyte PICln 3 4
  • CLNS1B 3 6
  • I(Cln) 3 4
  • ICln 3 4
  • CLCI 3 4
  • Chloride Channel Regulatory Protein 3
  • Methylosome Subunit PICln 3
  • Reticulocyte Protein ICln 3

External Ids for CLNS1A Gene

Previous HGNC Symbols for CLNS1A Gene

  • CLCI

Previous GeneCards Identifiers for CLNS1A Gene

  • GC11M079654
  • GC11M078866
  • GC11M077053
  • GC11M077004
  • GC11M077327
  • GC11M073625
  • GC11M077225

Summaries for CLNS1A Gene

Entrez Gene Summary for CLNS1A 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 activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. [provided by RefSeq, Feb 2009]

GeneCards Summary for CLNS1A Gene

CLNS1A (Chloride Channel, Nucleotide-Sensitive, 1A) is a Protein Coding gene. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA.

UniProtKB/Swiss-Prot for CLNS1A Gene

  • Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also indirectly participate in cellular volume control by activation of a swelling-induced chloride conductance pathway.

Gene Wiki entry for CLNS1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLNS1A Gene

Genomics for CLNS1A Gene

Regulatory Elements for CLNS1A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CLNS1A Gene

Start:
77,514,936 bp from pter
End:
77,637,806 bp from pter
Size:
122,871 bases
Orientation:
Minus strand

Genomic View for CLNS1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLNS1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLNS1A Gene

Proteins for CLNS1A Gene

  • Protein details for CLNS1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54105-ICLN_HUMAN
    Recommended name:
    Methylosome subunit pICln
    Protein Accession:
    P54105
    Secondary Accessions:
    • B2RCS9
    • Q0VDK6
    • Q9NRD2
    • Q9NRD3

    Protein attributes for CLNS1A Gene

    Size:
    237 amino acids
    Molecular mass:
    26215 Da
    Quaternary structure:
    • Component of the methylosome, a 20S complex containing at least CLNS1A/pICln, PRMT5/SKB1 and WDR77/MEP50; may mediate SNRPD1 and SNRPD3 methylation. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. Interacts with LSM10 and LSM11.

neXtProt entry for CLNS1A Gene

Proteomics data for CLNS1A Gene at MOPED

Post-translational modifications for CLNS1A Gene

  • Ubiquitination at Lys5 and Lys30
  • Modification sites at PhosphoSitePlus

Other Protein References for CLNS1A Gene

No data available for DME Specific Peptides for CLNS1A Gene

Domains for CLNS1A Gene

Protein Domains for CLNS1A Gene

Suggested Antigen Peptide Sequences for CLNS1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54105

UniProtKB/Swiss-Prot:

ICLN_HUMAN :
  • P54105
Family:
  • Belongs to the pICln (TC 1.A.47) family.
genes like me logo Genes that share domains with CLNS1A: view

No data available for Gene Families for CLNS1A Gene

Function for CLNS1A Gene

Molecular function for CLNS1A Gene

GENATLAS Biochemistry: chloride channel nucleotide sensitive,swelling-dependent outwardly rectifying,ICLN type 1A,26kDa,nucleotide sensitive expressed in ocular ciliary epithelium,mouse Icln ortholog
UniProtKB/Swiss-Prot Function: Chaperone that regulates the assembly of spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. May also indirectly participate in cellular volume control by activation of a swelling-induced chloride conductance pathway.

Gene Ontology (GO) - Molecular Function for CLNS1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16087681
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0046982 protein heterodimerization activity IDA 18495660
genes like me logo Genes that share ontologies with CLNS1A: view
genes like me logo Genes that share phenotypes with CLNS1A: view

Animal Models for CLNS1A Gene

MGI Knock Outs for CLNS1A:

Animal Model Products

CRISPR Products

miRNA for CLNS1A Gene

miRTarBase miRNAs that target CLNS1A

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLNS1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CLNS1A Gene

Localization for CLNS1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLNS1A Gene

Cytoplasm, cytosol. Nucleus. Cytoplasm, cytoskeleton. Note=A small fraction is also associated with the cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLNS1A Gene COMPARTMENTS Subcellular localization image for CLNS1A gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 4
extracellular 1

Gene Ontology (GO) - Cellular Components for CLNS1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CLNS1A: view

Pathways for CLNS1A Gene

genes like me logo Genes that share pathways with CLNS1A: view

Pathways by source for CLNS1A Gene

Gene Ontology (GO) - Biological Process for CLNS1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0006821 chloride transport IEA --
GO:0006884 cell volume homeostasis IEA --
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
genes like me logo Genes that share ontologies with CLNS1A: view

Compounds for CLNS1A Gene

(1) HMDB Compounds for CLNS1A Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6

(3) Novoseek inferred chemical compound relationships for CLNS1A Gene

Compound -log(P) Hits PubMed IDs
chloride 68 15
acyclovir 47.4 1
lipid 0 3
genes like me logo Genes that share compounds with CLNS1A: view

Transcripts for CLNS1A Gene

mRNA/cDNA for CLNS1A Gene

Unigene Clusters for CLNS1A Gene

Chloride channel, nucleotide-sensitive, 1A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CLNS1A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLNS1A Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
SP1: -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - -
SP6: - - - -
SP7:
SP8:
SP9: - - - -

Relevant External Links for CLNS1A Gene

GeneLoc Exon Structure for
CLNS1A
ECgene alternative splicing isoforms for
CLNS1A

Expression for CLNS1A Gene

mRNA expression in normal human tissues for CLNS1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CLNS1A Gene

SOURCE GeneReport for Unigene cluster for CLNS1A Gene Hs.430733

genes like me logo Genes that share expressions with CLNS1A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CLNS1A Gene

Orthologs for CLNS1A Gene

This gene was present in the common ancestor of animals.

Orthologs for CLNS1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLNS1A 35
  • 99.86 (n)
  • 100 (a)
CLNS1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CLNS1A 35
  • 93.11 (n)
  • 92.83 (a)
CLNS1A 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 91 (a)
OneToMany
CLNS1A 35
  • 91.21 (n)
  • 91.49 (a)
CLNS1A 36
  • 94 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Clns1a 35
  • 88.28 (n)
  • 90.25 (a)
Clns1a 16
Clns1a 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CLNS1A 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clns1a 35
  • 88.28 (n)
  • 89.83 (a)
chicken
(Gallus gallus)
Aves CLNS1A 35
  • 75.32 (n)
  • 80.85 (a)
CLNS1A 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLNS1A 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ICLN 35
tropical clawed frog
(Silurana tropicalis)
Amphibia clns1a 35
  • 71.49 (n)
  • 71.91 (a)
Str.2882 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1213 35
zebrafish
(Danio rerio)
Actinopterygii icln 35
  • 67.09 (n)
  • 70.09 (a)
icln 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta icln 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea icln-1 36
  • 29 (a)
OneToOne
Species with no ortholog for CLNS1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CLNS1A Gene

ENSEMBL:
Gene Tree for CLNS1A (if available)
TreeFam:
Gene Tree for CLNS1A (if available)

Paralogs for CLNS1A Gene

Pseudogenes.org Pseudogenes for CLNS1A Gene

genes like me logo Genes that share paralogs with CLNS1A: view

No data available for Paralogs for CLNS1A Gene

Variants for CLNS1A Gene

Sequence variations from dbSNP and Humsavar for CLNS1A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1053907 -- 77,637,039(+) CCTCT(C/T)CTTAC intron-variant
rs1540179 -- 77,623,894(+) GAAAG(A/G)GCTCT intron-variant
rs1629210 -- 77,633,001(-) caacc(A/C)attct intron-variant
rs1783663 -- 77,632,845(-) ctccc(A/C)aaatg intron-variant
rs1783664 -- 77,618,065(-) CTGGC(A/C)AGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CLNS1A Gene

Variant ID Type Subtype PubMed ID
nsv468641 CNV Gain 19166990

Relevant External Links for CLNS1A Gene

HapMap Linkage Disequilibrium report
CLNS1A
Human Gene Mutation Database (HGMD)
CLNS1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLNS1A Gene

Disorders for CLNS1A Gene

Relevant External Links for CLNS1A

Genetic Association Database (GAD)
CLNS1A
Human Genome Epidemiology (HuGE) Navigator
CLNS1A
genes like me logo Genes that share disorders with CLNS1A: view

No data available for UniProtKB/Swiss-Prot for CLNS1A Gene

Publications for CLNS1A Gene

  1. Chromosomal localization of the genes (CLNS1A and CLNS1B) coding for the swelling-dependent chloride channel ICln. (PMID: 8975725) Nagl U.O. … Paulmichl M. (Genomics 1996) 2 3 23
  2. Modulation of volume regulated anion current by I(Cln). (PMID: 10825435) Hubert M.D. … Garber S.S. (Biochim. Biophys. Acta 2000) 3 4 23
  3. Molecular cloning of the human volume-sensitive chloride conductance regulatory protein, pICln, from ocular ciliary epithelium. (PMID: 7887970) Anquita J. … Coca-Prados M. (Biochem. Biophys. Res. Commun. 1995) 2 3 4
  4. The ubiquitously expressed pICln protein forms homomeric complexes in vitro. (PMID: 8579598) Buyse G. … Eggermont J. (Biochem. Biophys. Res. Commun. 1996) 3 4 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CLNS1A Gene

Sources for CLNS1A Gene

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