• Gene id: 23155

Gene Summary

• Gene Symbol: CLCC1   Gene   UCSC   Ensembl
• Aliases: MCLC
• Gene name: chloride channel CLIC like 1
• Alternate names: chloride channel CLIC-like protein 1, Mid-1-related chloride channel protein 1,
• Gene location: 1p13.3 (108963483: 108929504)     Exons: 15     NC_000001.11
• OMIM: 617539

Protein Summary

• Protein general information: Q96S66  
  • Name: Chloride channel CLIC like protein 1 (Mid 1 related chloride channel protein 1)
  • Length: 551  
  • Mass: 62023
  • Tissue specificity: Expressed in the retina of the eye, with extensive expression in the lamina cribrosa, optic nerve, ganglion cell layer, inner nuclear layer, outer nuclear layer and retinal pigment epithelium. {ECO
• Sequence:

  MLCSLLLCECLLLVAGYAHDDDWIDPTDMLNYDAASGTMRKSQAKYGISGEKDVSPDLSCADEISECYHKLDSLT
  YKIDECEKKKREDYESQSNPVFRRYLNKILIEAGKLGLPDENKGDMHYDAEIILKRETLLEIQKFLNGEDWKPGA
  LDDALSDILINFKFHDFETWKWRFEDSFGVDPYNVLMVLLCLLCIVVLVATELWTYVRWYTQLRRVLIISFLFSL
  GWNWMYLYKLAFAQHQAEVAKMEPLNNVCAKKMDWTGSIWEWFRSSWTYKDDPCQKYYELLLVNPIWLVPPTKAL
  AVTFTTFVTEPLKHIGKGTGEFIKALMKEIPALLHLPVLIIMALAILSFCYGAGKSVHVLRHIGGPESEPPQALR
  PRDRRRQEEIDYRPDGGAGDADFHYRGQMGPTEQGPYAKTYEGRREILRERDVDLRFQTGNKSPEVLRAFDVPDA
  EAREHPTVVPSHKSPVLDTKPKETGGILGEGTPKESSTESSQSAKPVSGQDTSGNTEGSPAAEKAQLKSEAAGSP
  DQGSTYSPARGVAGPRGQDPVSSPCG

• Structural information:
  • Interpro: IPR009231  
  • STRING: ENSP00000349456
• Other Databases: GeneCards:  CLCC1  Malacards:  CLCC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0044233	mitochondria-associated endoplasmic reticulum membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881