CLNS1A

CLNS1A

Identifiers

CLNS1A, CLCI, CLNS1B, ICln, chloride nucleotide-sensitive channel 1A

External IDs

OMIM: 602158; MGI: 109638; HomoloGene: 990; GeneCards: CLNS1A; OMA:CLNS1A - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q14.1	Start	77,514,936 bp^[1]
Band	11q14.1	End	77,637,794 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7 E1\|7 53.57 cM	Start	97,345,841 bp^[2]
Band	7 E1\|7 53.57 cM	End	97,370,003 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

ventricular zone

Achilles tendon

ganglionic eminence

body of pancreas

right adrenal gland

right adrenal cortex

left ovary

C1 segment

left adrenal gland

monocyte

Top expressed in

motor neuron

primitive streak

medial ganglionic eminence

condyle

fossa

vestibular membrane of cochlear duct

hair follicle

Rostral migratory stream

renal corpuscle

internal carotid artery

More reference expression data


More reference expression data

Gene ontology
Molecular function	protein heterodimerization activity protein binding RNA binding
Cellular component	plasma membrane cytoskeleton nucleoplasm nucleus methylosome pICln-Sm protein complex cytosol cytoplasm
Biological process	cell volume homeostasis chloride transport spliceosomal snRNP assembly
Sources:Amigo / QuickGO

Species

Human

Mouse


1207


12729


ENSG00000074201


ENSMUSG00000025439


P54105


Q61189 Q923F1

RefSeq (mRNA)


NM_001311202 NM_001293 NM_001311199 NM_001311200 NM_001311201


NM_023671

RefSeq (protein)


NP_001284 NP_001298128 NP_001298129 NP_001298130 NP_001298131


NP_076160

Location (UCSC)

Chr 11: 77.51 – 77.64 Mb

Chr 7: 97.35 – 97.37 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

Methylosome subunit pICln is a protein that in humans is encoded by the CLNS1A gene.^[5]^[6]^[7]

Interactions

CLNS1A has been shown to interact with:

See also

Chloride channel

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000074201 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025439 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Anguita J, Chalfant ML, Civan MM, Coca-Prados M (Apr 1995). "Molecular cloning of the human volume-sensitive chloride conductance regulatory protein, pICln, from ocular ciliary epithelium". Biochem Biophys Res Commun. 208 (1): 89–95. doi:10.1006/bbrc.1995.1309. PMID 7887970.
^ Nagl UO, Erdel M, Schmarda A, Seri M, Pinggera GM, Gschwentner M, Duba C, Galietta LJ, Deetjen P, Utermann G, Paulmichl M (Mar 1997). "Chromosomal localization of the genes (CLNS1A and CLNS1B) coding for the swelling-dependent chloride channel ICln". Genomics. 38 (3): 438–41. doi:10.1006/geno.1996.0651. PMID 8975725.
^ "Entrez Gene: CLNS1A chloride channel, nucleotide-sensitive, 1A".
^ Larkin D, Murphy D, Reilly DF, Cahill M, Sattler E, Harriott P, Cahill DJ, Moran N (Jun 2004). "ICln, a novel integrin alphaIIbbeta3-associated protein, functionally regulates platelet activation". J. Biol. Chem. 279 (26): 27286–93. doi:10.1074/jbc.M402159200. PMID 15075326.
^ ^a ^b ^c Friesen WJ, Paushkin S, Wyce A, Massenet S, Pesiridis GS, Van Duyne G, Rappsilber J, Mann M, Dreyfuss G (Dec 2001). "The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins". Mol. Cell. Biol. 21 (24): 8289–300. doi:10.1128/MCB.21.24.8289-8300.2001. PMC 99994. PMID 11713266.
^ Krapivinsky G, Pu W, Wickman K, Krapivinsky L, Clapham DE (May 1998). "pICln binds to a mammalian homolog of a yeast protein involved in regulation of cell morphology". J. Biol. Chem. 273 (18): 10811–4. doi:10.1074/jbc.273.18.10811. PMID 9556550.
^ Friesen WJ, Wyce A, Paushkin S, Abel L, Rappsilber J, Mann M, Dreyfuss G (Mar 2002). "A novel WD repeat protein component of the methylosome binds Sm proteins". J. Biol. Chem. 277 (10): 8243–7. doi:10.1074/jbc.M109984200. PMID 11756452.
^ Krzyzanowski A, Gasper R, Adihou H, 't Hart P, Waldmann H (Feb 2021). "Biochemical Investigation of the Interaction of pICln, RioK1 and COPR5 with the PRMT5-MEP50 Complex". ChemBioChem. 22 (11): 1908–1914. doi:10.1002/cbic.202100079. PMC 8252068. PMID 33624332.

Further reading

Calinisan V, Gravem D, Chen RP, Brittin S, Mohandas N, Lecomte MC, Gascard P (2006). "New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium". Front. Biosci. 11: 1646–66. doi:10.2741/1911. PMID 16368544. S2CID 26325962.
Buyse G, de Greef C, Raeymaekers L, Droogmans G, Nilius B, Eggermont J (1996). "The ubiquitously expressed pICln protein forms homomeric complexes in vitro". Biochem. Biophys. Res. Commun. 218 (3): 822–7. doi:10.1006/bbrc.1996.0146. PMID 8579598.
Schwartz RS, Rybicki AC, Nagel RL (1997). "Molecular cloning and expression of a chloride channel-associated protein pICln in human young red blood cells: association with actin". Biochem. J. 327 (2): 609–16. doi:10.1042/bj3270609. PMC 1218836. PMID 9359436.
Bekri S, Adélaïde J, Merscher S, Grosgeorge J, Caroli-Bosc F, Perucca-Lostanlen D, Kelley PM, Pébusque MJ, Theillet C, Birnbaum D, Gaudray P (1998). "Detailed map of a region commonly amplified at 11q13→q14 in human breast carcinoma". Cytogenet. Cell Genet. 79 (1–2): 125–31. doi:10.1159/000134699. PMID 9533029.
Krapivinsky G, Pu W, Wickman K, Krapivinsky L, Clapham DE (1998). "pICln binds to a mammalian homolog of a yeast protein involved in regulation of cell morphology". J. Biol. Chem. 273 (18): 10811–4. doi:10.1074/jbc.273.18.10811. PMID 9556550.
Tang CJ, Tang TK (1998). "The 30-kD domain of protein 4.1 mediates its binding to the carboxyl terminus of pICln, a protein involved in cellular volume regulation". Blood. 92 (4): 1442–7. doi:10.1182/blood.V92.4.1442. PMID 9694734.
Pu WT, Krapivinsky GB, Krapivinsky L, Clapham DE (1999). "pICln inhibits snRNP biogenesis by binding core spliceosomal proteins". Mol. Cell. Biol. 19 (6): 4113–20. doi:10.1128/MCB.19.6.4113. PMC 104370. PMID 10330151.
Hubert MD, Levitan I, Hoffman MM, Zraggen M, Hofreiter ME, Garber SS (2000). "Modulation of volume regulated anion current by I(Cln)". Biochim. Biophys. Acta. 1466 (1–2): 105–14. doi:10.1016/S0005-2736(00)00177-2. PMID 10825435.
Friesen WJ, Paushkin S, Wyce A, Massenet S, Pesiridis GS, Van Duyne G, Rappsilber J, Mann M, Dreyfuss G (2001). "The methylosome, a 20S complex containing JBP1 and pICln, produces dimethylarginine-modified Sm proteins". Mol. Cell. Biol. 21 (24): 8289–300. doi:10.1128/MCB.21.24.8289-8300.2001. PMC 99994. PMID 11713266.
Meister G, Eggert C, Bühler D, Brahms H, Kambach C, Fischer U (2002). "Methylation of Sm proteins by a complex containing PRMT5 and the putative U snRNP assembly factor pICln". Curr. Biol. 11 (24): 1990–4. doi:10.1016/S0960-9822(01)00592-9. hdl:11858/00-001M-0000-0012-F501-7. PMID 11747828. S2CID 14742376.
Friesen WJ, Wyce A, Paushkin S, Abel L, Rappsilber J, Mann M, Dreyfuss G (2002). "A novel WD repeat protein component of the methylosome binds Sm proteins". J. Biol. Chem. 277 (10): 8243–7. doi:10.1074/jbc.M109984200. PMID 11756452.
Meyer G, Rodighiero S, Guizzardi F, Bazzini C, Bottà G, Bertocchi C, Garavaglia L, Dossena S, Manfredi R, Sironi C, Catania A, Paulmichl M (2004). "Volume-regulated Cl⁻ channels in human pleural mesothelioma cells". FEBS Lett. 559 (1–3): 45–50. Bibcode:2004FEBSL.559...45M. doi:10.1016/S0014-5793(04)00020-1. PMID 14960305. S2CID 24747269.
Larkin D, Murphy D, Reilly DF, Cahill M, Sattler E, Harriott P, Cahill DJ, Moran N (2004). "ICln, a novel integrin alphaIIbbeta3-associated protein, functionally regulates platelet activation". J. Biol. Chem. 279 (26): 27286–93. doi:10.1074/jbc.M402159200. PMID 15075326.
Fürst J, Schedlbauer A, Gandini R, Garavaglia ML, Saino S, Gschwentner M, Sarg B, Lindner H, Jakab M, Ritter M, Bazzini C, Botta G, Meyer G, Kontaxis G, Tilly BC, Konrat R, Paulmichl M (2005). "ICln159 folds into a pleckstrin homology domain-like structure. Interaction with kinases and the splicing factor LSm4". J. Biol. Chem. 280 (35): 31276–82. doi:10.1074/jbc.M500541200. PMID 15905169.
Azzouz TN, Pillai RS, Däpp C, Chari A, Meister G, Kambach C, Fischer U, Schümperli D (2005). "Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes". J. Biol. Chem. 280 (41): 34435–40. doi:10.1074/jbc.M505077200. hdl:21.11116/0000-0007-E5F1-6. PMID 16087681.

External links

CLNS1A+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human CLNS1A genome location and CLNS1A gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

v t e PDB gallery
1zyi: Solution structure of ICLN, a multifunctional protein involved in regulatory mechanisms as different as cell volume regulation and rna splicing

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

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