• Gene id: 57393

Gene Summary

• Gene Symbol: CLTRN   Gene   UCSC   Ensembl
• Aliases: NX-17, NX17, TMEM27
• Gene name: collectrin, amino acid transport regulator
• Alternate names: collectrin, kidney-specific membrane protein, transmembrane protein 27,
• Gene location: Xp22.2 (15675623: 15627317)     Exons: 8     NC_000023.11
• Gene summary(Entrez): This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma me

Protein Summary

• Protein general information: Q9HBJ8  
  • Name: Collectrin (Transmembrane protein 27)
  • Length: 222  
  • Mass: 25235
  • Tissue specificity: Kidney; collecting ducts. Pancreas; beta cells of islets. {ECO
• Sequence:

  MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRKVPNREATEISHVLLC
  NVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLNDQTLEFLKIPSTLAPPMDPSVPIWIIIFGVI
  FCIIIVAIALLILSGIWQRRRKNKEPSEVDDAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDERLTPL

• Structural information:
  • Interpro: IPR042944  IPR031588  
  • STRING: ENSP00000369699
• Other Databases: GeneCards:  CLTRN  Malacards:  CLTRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IBA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IBA	biological process
GO:0051957	positive regulation of amino acid transport	IBA	biological process
GO:0035543	positive regulation of SNARE complex assembly	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045956	positive regulation of calcium ion-dependent exocytosis	IDA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IDA	biological process
GO:0035543	positive regulation of SNARE complex assembly	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881