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Protein

Methylosome subunit pICln

Gene

CLNS1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in both the assembly of spliceosomal snRNPs and the methylation of Sm proteins (PubMed:21081503, PubMed:18984161). 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.4 Publications

GO - Molecular functioni

  • protein heterodimerization activity Source: MGI
  • RNA binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly

Protein family/group databases

TCDBi1.A.47.1.1 the nucleotide-sensitive anion-selective channel, icln (icln) family

Names & Taxonomyi

Protein namesi
Recommended name:
Methylosome subunit pICln
Alternative name(s):
Chloride channel, nucleotide sensitive 1A
Chloride conductance regulatory protein ICln
Short name:
I(Cln)
Chloride ion current inducer protein
Short name:
ClCI
Reticulocyte pICln
Gene namesi
Name:CLNS1A
Synonyms:CLCI, ICLN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000074201.8
HGNCiHGNC:2080 CLNS1A
MIMi602158 gene
neXtProtiNX_P54105

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi1207
OpenTargetsiENSG00000074201
PharmGKBiPA26607

Polymorphism and mutation databases

BioMutaiCLNS1A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00001851552 – 237Methylosome subunit pIClnAdd BLAST236

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei102PhosphoserineCombined sources2 Publications1
Modified residuei144PhosphoserineCombined sources1
Modified residuei193PhosphoserineCombined sources1
Modified residuei195PhosphoserineCombined sources1
Modified residuei198PhosphoserineCombined sources1
Modified residuei210PhosphoserineCombined sources1
Modified residuei223PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP54105
MaxQBiP54105
PaxDbiP54105
PeptideAtlasiP54105
PRIDEiP54105
ProteomicsDBi56643

PTM databases

iPTMnetiP54105
PhosphoSitePlusiP54105

Expressioni

Gene expression databases

BgeeiENSG00000074201 Expressed in 236 organ(s), highest expression level in frontal cortex
CleanExiHS_CLNS1A
ExpressionAtlasiP54105 baseline and differential
GenevisibleiP54105 HS

Organism-specific databases

HPAiCAB017840
HPA031707
HPA031708
HPA032045

Interactioni

Subunit structurei

Component of the methylosome, a 20S complex containing at least PRMT5/SKB1, WDR77/MEP50 and CLNS1A/pICln (PubMed:21081503, PubMed:11747828, PubMed:18984161). 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 (PubMed:18984161). Interacts with LSM10 and LSM11 (PubMed:16087681).4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107617, 100 interactors
ComplexPortaliCPX-696 Methylosome
CORUMiP54105
DIPiDIP-44185N
IntActiP54105, 34 interactors
MINTiP54105
STRINGi9606.ENSP00000433919

Structurei

3D structure databases

ProteinModelPortaliP54105
SMRiP54105
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3238 Eukaryota
ENOG4111R94 LUCA
GeneTreeiENSGT00390000010063
HOGENOMiHOG000006913
HOVERGENiHBG003108
InParanoidiP54105
KOiK05019
OMAiCIYFMLD
OrthoDBiEOG091G0XFJ
PhylomeDBiP54105
TreeFamiTF315155

Family and domain databases

InterProiView protein in InterPro
IPR003521 ICln
PRINTSiPR01348 ICLNCHANNEL

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

P54105-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSFLKSFPPP GPAEGLLRQQ PDTEAVLNGK GLGTGTLYIA ESRLSWLDGS
60 70 80 90 100
GLGFSLEYPT ISLHALSRDR SDCLGEHLYV MVNAKFEEES KEPVADEEEE
110 120 130 140 150
DSDDDVEPIT EFRFVPSDKS ALEAMFTAMC ECQALHPDPE DEDSDDYDGE
160 170 180 190 200
EYDVEAHEQG QGDIPTFYTY EEGLSHLTAE GQATLERLEG MLSQSVSSQY
210 220 230
NMAGVRTEDS IRDYEDGMEV DTTPTVAGQF EDADVDH
Length:237
Mass (Da):26,215
Last modified:October 1, 1996 - v1
Checksum:iAE9C09884A6FF158
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMI6E9PMI6_HUMAN
Methylosome subunit pICln
CLNS1A
167Annotation score:
J3KN38J3KN38_HUMAN
Methylosome subunit pICln
CLNS1A
203Annotation score:
E9PJF4E9PJF4_HUMAN
Methylosome subunit pICln
CLNS1A
179Annotation score:
E9PQ83E9PQ83_HUMAN
Methylosome subunit pICln
CLNS1A
49Annotation score:
U3KPU0U3KPU0_HUMAN
Methylosome subunit pICln
CLNS1A
22Annotation score:
H0YEN9H0YEN9_HUMAN
Methylosome subunit pICln
CLNS1A
23Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01573620Q → H1 Publication1
Natural variantiVAR_015737218M → T1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91788 mRNA Translation: CAA62902.1
U17899 mRNA Translation: AAC50111.1
U53454 mRNA Translation: AAB03316.1
AF005422 mRNA Translation: AAB61444.1
AF026003 mRNA Translation: AAB88806.1
AF232708 Genomic DNA Translation: AAF76861.1
AF232224 Genomic DNA Translation: AAF76858.1
AF232225 Genomic DNA Translation: AAF76859.1
AK315259 mRNA Translation: BAG37676.1
BT019907 mRNA Translation: AAV38710.1
BC119634 mRNA Translation: AAI19635.1
BC119635 mRNA Translation: AAI19636.1
CCDSiCCDS8252.1
PIRiJC4135
RefSeqiNP_001284.1, NM_001293.2
NP_001298128.1, NM_001311199.1
NP_001298129.1, NM_001311200.1
NP_001298130.1, NM_001311201.1
NP_001298131.1, NM_001311202.1
UniGeneiHs.430733

Genome annotation databases

EnsembliENST00000525428; ENSP00000433919; ENSG00000074201
ENST00000528364; ENSP00000434311; ENSG00000074201
GeneIDi1207
KEGGihsa:1207
UCSCiuc001oyk.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X91788 mRNA Translation: CAA62902.1
U17899 mRNA Translation: AAC50111.1
U53454 mRNA Translation: AAB03316.1
AF005422 mRNA Translation: AAB61444.1
AF026003 mRNA Translation: AAB88806.1
AF232708 Genomic DNA Translation: AAF76861.1
AF232224 Genomic DNA Translation: AAF76858.1
AF232225 Genomic DNA Translation: AAF76859.1
AK315259 mRNA Translation: BAG37676.1
BT019907 mRNA Translation: AAV38710.1
BC119634 mRNA Translation: AAI19635.1
BC119635 mRNA Translation: AAI19636.1
CCDSiCCDS8252.1
PIRiJC4135
RefSeqiNP_001284.1, NM_001293.2
NP_001298128.1, NM_001311199.1
NP_001298129.1, NM_001311200.1
NP_001298130.1, NM_001311201.1
NP_001298131.1, NM_001311202.1
UniGeneiHs.430733

3D structure databases

ProteinModelPortaliP54105
SMRiP54105
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107617, 100 interactors
ComplexPortaliCPX-696 Methylosome
CORUMiP54105
DIPiDIP-44185N
IntActiP54105, 34 interactors
MINTiP54105
STRINGi9606.ENSP00000433919

Protein family/group databases

TCDBi1.A.47.1.1 the nucleotide-sensitive anion-selective channel, icln (icln) family

PTM databases

iPTMnetiP54105
PhosphoSitePlusiP54105

Polymorphism and mutation databases

BioMutaiCLNS1A

Proteomic databases

EPDiP54105
MaxQBiP54105
PaxDbiP54105
PeptideAtlasiP54105
PRIDEiP54105
ProteomicsDBi56643

Protocols and materials databases

DNASUi1207
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000525428; ENSP00000433919; ENSG00000074201
ENST00000528364; ENSP00000434311; ENSG00000074201
GeneIDi1207
KEGGihsa:1207
UCSCiuc001oyk.4 human

Organism-specific databases

CTDi1207
DisGeNETi1207
EuPathDBiHostDB:ENSG00000074201.8
GeneCardsiCLNS1A
HGNCiHGNC:2080 CLNS1A
HPAiCAB017840
HPA031707
HPA031708
HPA032045
MIMi602158 gene
neXtProtiNX_P54105
OpenTargetsiENSG00000074201
PharmGKBiPA26607
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3238 Eukaryota
ENOG4111R94 LUCA
GeneTreeiENSGT00390000010063
HOGENOMiHOG000006913
HOVERGENiHBG003108
InParanoidiP54105
KOiK05019
OMAiCIYFMLD
OrthoDBiEOG091G0XFJ
PhylomeDBiP54105
TreeFamiTF315155

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly

Miscellaneous databases

ChiTaRSiCLNS1A human
GeneWikiiCLNS1A
GenomeRNAii1207
PROiPR:P54105
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000074201 Expressed in 236 organ(s), highest expression level in frontal cortex
CleanExiHS_CLNS1A
ExpressionAtlasiP54105 baseline and differential
GenevisibleiP54105 HS

Family and domain databases

InterProiView protein in InterPro
IPR003521 ICln
PRINTSiPR01348 ICLNCHANNEL
ProtoNetiSearch...

Entry informationi

Entry nameiICLN_HUMAN
AccessioniPrimary (citable) accession number: P54105
Secondary accession number(s): B2RCS9
, Q0VDK6, Q9NRD2, Q9NRD3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 12, 2018
This is version 169 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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