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CLNS1A Gene

protein-coding   GIFtS: 64
GCID: GC11M077225

Chloride Channel, Nucleotide-Sensitive, 1A


(Previous symbol: CLCI)
Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chloride Channel, Nucleotide-Sensitive, 1A1 2     Chloride Channel Regulatory Protein2
CLCI1 2 3     i(Cln)2
Chloride Channel, Nucleotide Sensitive 1A2 3     Methylosome Subunit PICln2
Chloride Conductance Regulatory Protein ICln2 3     Reticulocyte Protein ICln2
Chloride Ion Current Inducer Protein2 3     ClCI3
Reticulocyte PICln2 3     I(Cln)3
CLNS1B2 5     ICLN3
ICln2     

External Ids:    HGNC: 20801   Entrez Gene: 12072   Ensembl: ENSG000000742017   OMIM: 6021585   UniProtKB: P541053   
ORGUL members:         

Export aliases for CLNS1A gene to outside databases

Previous GC identifers: GC11M079654 GC11M078866 GC11M077549 GC11M077053 GC11M077004 GC11M077327 GC11M073625


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with CLNS1A include cholera, and prostate cancer.

UniProtKB/Swiss-Prot: ICLN_HUMAN, P54105
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 Wiki entry for CLNS1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLNS1A gene promoter:
         USF1   NCX/Ncx   USF2   USF-1:USF-2   E47   POU2F1   POU2F1a   USF-1   Cart-1   Hand1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLNS1A promoter sequence
   Search Chromatin IP Primers for CLNS1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLNS1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.5-q14   Ensembl cytogenetic band:  11q14.1   HGNC cytogenetic band: 11q13.5-q14

CLNS1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLNS1A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M077225:  view genomic region     (about GC identifiers)

Start:
77,225,981 bp from pter      End:
77,348,851 bp from pter
Size:
122,871 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ICLN_HUMAN, P54105 (See protein sequence)
Recommended Name: Methylosome subunit pICln  
Size: 237 amino acids; 26215 Da
Subunit: 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
Secondary accessions: B2RCS9 Q0VDK6 Q9NRD2 Q9NRD3

Explore the universe of human proteins at neXtProt for CLNS1A: NX_P54105

Explore proteomics data for CLNS1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5, Lys30
  • Modification sites at PhosphoSitePlus

  • See CLNS1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001284.1  
    ENSEMBL proteins: 
     ENSP00000475218   ENSP00000433919   ENSP00000263309   ENSP00000433741   ENSP00000436245  
     ENSP00000434963   ENSP00000434311   ENSP00000432570  
    Reactome Protein details: P54105

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003521 ICln

    Graphical View of Domain Structure for InterPro Entry P54105

    ProtoNet protein and cluster: P54105

    1 Blocks protein domain: IPB003521 Nucleotide-sensitive chloride conductance regulator (ICln) signature

    UniProtKB/Swiss-Prot: ICLN_HUMAN, P54105
    Similarity: Belongs to the pICln (TC 1.A.47) family


    CLNS1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ICLN_HUMAN, P54105
    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

         Genatlas biochemistry entry for CLNS1A:
    chloride channel nucleotide sensitive,swelling-dependent outwardly rectifying,ICLN type 1A,26kDa,nucleotide
    sensitive expressed in ocular ciliary epithelium,mouse Icln ortholog

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16087681
    GO:0044822poly(A) RNA binding IDA--
         
    CLNS1A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CLNS1A:
     Decreased TP53 protein express  Decreased p24 protein expressi 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Clns1a):
     cellular  mortality/aging 

    CLNS1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Clns1atm1Kwn for CLNS1A

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    6 qRT-PCR Assays for microRNAs that regulate CLNS1A:
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    SwitchGear 3'UTR luciferase reporter plasmidCLNS1A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ICLN_HUMAN, P54105: Cytoplasm, cytosol. Nucleus. Cytoplasm, cytoskeleton. Note=A small fraction is also
    associated with the cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    plasma membrane4
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--

    CLNS1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CLNS1A About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Regulation of Glucokinase by Glucokinase Regulatory Protein
    Metabolism of non-coding RNA0.54
    snRNP Assembly0.54
    3Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    4Gene Expression
    Gene Expression0.40
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Cholera Infection0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CLNS1A
        Cholera Infection
    Hepatic ABC Transporters
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA


    1 Reactome Pathway for CLNS1A
        snRNP Assembly


    1 Kegg Pathway  (Kegg details for CLNS1A):
        RNA transport


    CLNS1A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CLNS1A
    Interactions:

        Search GeneGlobe Interaction Network for CLNS1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CLNS1A (P541051, 2, 3 ENSP000002633094) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRMT5O147441, 2, 3, ENSP000003191694EBI-724693,EBI-351098 MINT-8339070 I2D: score=3 STRING: ENSP00000319169
    SNRPD1P623141, 2, 3, ENSP000003004134EBI-724693,EBI-372177 MINT-8332679 I2D: score=2 STRING: ENSP00000300413
    SNRPD2P623161, 2, 3, ENSP000003423744EBI-724693,EBI-297993 MINT-8332723 I2D: score=2 STRING: ENSP00000342374
    SNRPFP623061, 2, 3, ENSP000002667354EBI-724693,EBI-356900 MINT-8332877 I2D: score=1 STRING: ENSP00000266735
    AGO3Q9H9G72, 3, ENSP000003622874MINT-6489217 I2D: score=2 STRING: ENSP00000362287
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0006810transport ----
    GO:0006821chloride transport ----
    GO:0006884cell volume homeostasis ----
    GO:0008015blood circulation ----

    CLNS1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CLNS1A (ICLN)

    1 HMDB Compound for CLNS1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--

    3 Novoseek inferred chemical compound relationships for CLNS1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 68 20 8887755 (2), 8766008 (2), 15075326 (2), 8975725 (2) (see all 10)
    acyclovir 47.4 1 15075326 (1)
    lipid 0 4 15905169 (2), 10821842 (1)



    CLNS1A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CLNS1A gene: 
    NM_001293.2  

    Unigene Cluster for CLNS1A:

    Chloride channel, nucleotide-sensitive, 1A
    Hs.430733  [show with all ESTs]
    Unigene Representative Sequence: NM_001293
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526761 ENST00000533957 ENST00000525428(uc001oyk.3) ENST00000263309
    ENST00000525064 ENST00000526009 ENST00000532069 ENST00000528364 ENST00000527299
    ENST00000527133 ENST00000525359 ENST00000527265

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    Additional mRNA sequence: 

    AF005422.1 AF026003.1 AK315259.1 BC119634.1 BC119635.1 BT019907.1 U17899.1 U53454.1 
    X91788.1 

    20 DOTS entries:

    DT.317583  DT.95178220  DT.100884919  DT.100823085  DT.100823081  DT.120742217  DT.120742189  DT.87001523 
    DT.102826883  DT.91743149  DT.91763087  DT.100031173  DT.100823090  DT.120742215  DT.91763085  DT.91763086 
    DT.100823087  DT.91874887  DT.95221028  DT.100031172 

    Selected AceView cDNA sequences (see all 444):

    BM749690 BM765448 BX363393 AW273598 BM755724 BM761576 AA173715 BM756244 
    BM450285 BM791204 BM014769 AA481341 AV725673 BQ068966 AF026003 BI858154 
    AA379246 CR603737 BU154031 BQ774636 BP357724 AI206937 AA425627 BM454760 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLNS1A (see all 9)    About this scheme

    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:                                -                                         -                                             


    ECgene alternative splicing isoforms for CLNS1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CLNS1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTACCAGT
    CLNS1A Expression
    About this image


    CLNS1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Larynx (Respiratory System)
    CLNS1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLNS1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.430733
        Custom PCR Arrays for CLNS1A
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CLNS1A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clns1a1 , 5 chloride channel, nucleotide-sensitive, 1A1, 5 88.28(n)1
    90.25(a)1
      7 (53.57 cM)5
    127291  NM_023671.21  NP_076160.11 
     1132074655 
    chicken
    (Gallus gallus)
    Aves CLNS1A1 chloride channel, nucleotide-sensitive, 1A 75.32(n)
    80.85(a)
      425500  XM_423253.4  XP_423253.3 
    lizard
    (Anolis carolinensis)
    Reptilia CLNS1A6
    chloride channel, nucleotide-sensitive, 1A
    74(a)
    1 ↔ 1
    GL343337.1(729383-745158)
    African clawed frog
    (Xenopus laevis)
    Amphibia ICLN2 regulatory protein 73.59(n)    L26449.1 
    zebrafish
    (Danio rerio)
    Actinopterygii icln2 swelling dependent chloride channel 75.08(n)   30699  NM_131424.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta icln6
    icln
    30(a)
    1 ↔ 1
    2R(13478469-13479386)
    worm
    (Caenorhabditis elegans)
    Secernentea icln-16
    Protein ICLN-1, isoform b (icln-1) mRNA, complete ...
    29(a)
    1 ↔ 1
    IV(9094547-9095655) WBGene00002046


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLNS1A gene

    CLNS1A for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for CLNS1A
    PGOHUM00000258077 PGOHUM00000246139 PGOHUM00000243207


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CLNS1A (see all 493)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817767221,2
    --77326713(+) AATTCG/TTTTTT 1 -- ds50010--------
    rs1862028081,2
    --77326714(+) ATTCGC/TTTTTT 1 -- ds50010--------
    rs1917107461,2
    --77326770(+) AATGAA/GCACTG 1 -- ds50010--------
    rs1453386301,2
    C--77326789(+) GGTACC/TAAACA 1 -- ds50010--------
    rs746284591,2
    C--77326979(+) TACTGA/CTGATC 1 -- ds50010--------
    rs609528531,2
    C--77327144(+) CATTAT/-TTTTT 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1836761791,2
    --77327319(+) AAGGCC/TGGAAA 1 -- ut310--------
    rs799507741,2
    C,F--77327368(+) GTAAAA/TCATGG 1 -- ut311Minor allele frequency- T:0.06NA 120
    rs1881489001,2
    --77327396(+) TTCCCC/TCGCAG 1 -- ut310--------
    rs1407812631,2
    --77327420(+) TGTGCA/GTTTTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CLNS1A (77225981 - 77348851 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CLNS1A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv468641CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLNS1A
    DNA2.0 Custom Variant and Variant Library Synthesis for CLNS1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602158    OMIM disorders: --

    6 diseases for CLNS1A:    
    About MalaCards
    cholera    prostate cancer    hiv-1    prostatitis
    hepatitis    neuronitis


    CLNS1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): CLNS1A
    Human Genome Epidemiology (HuGE) Navigator: CLNS1A (2 documents)

    Export disorders for CLNS1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CLNS1A gene, integrated from 10 sources (see all 78):
    (articles sorted by number of sources associating them with CLNS1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human volume-sensitive chloride conductance regulatory protein, pICln, from ocular ciliary epithelium. (PubMed id 7887970)1, 2, 3 Anquita J.... Coca-Prados M. (Biochem. Biophys. Res. Commun. 1995)
    2. Chromosomal localization of the genes (CLNS1A and CLNS1B) coding for the swelling-dependent chloride channel ICln. (PubMed id 8975725)1, 3, 9 Nagl U.O....Paulmichl M. (Genomics 1996)
    3. Modulation of volume regulated anion current by I(Cln). (PubMed id 10825435)1, 2, 9 Hubert M.D....Garber S.S. (Biochim. Biophys. Acta 2000)
    4. The ubiquitously expressed pICln protein forms homomeric complexes in vitro. (PubMed id 8579598)1, 2, 9 Buyse G....Eggermont J. (Biochem. Biophys. Res. Commun. 1996)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PubMed id 18984161)1, 2 Chari A....Fischer U. (Cell 2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes. (PubMed id 16087681)1, 2 Azzouz T.N.... Schuemperli D. (J. Biol. Chem. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln. (PubMed id 11747828)1, 2 Meister G.... Fischer U. (Curr. Biol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1207 HGNC: 2080 AceView: CLNS1A Ensembl:ENSG00000074201 euGenes: HUgn1207
    ECgene: CLNS1A Kegg: 1207 H-InvDB: CLNS1A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CLNS1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CLNS1A gene:
    Search GeneIP for patents involving CLNS1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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