• Gene id: 1209

Gene Summary

• Gene Symbol: CLPTM1   Gene   UCSC   Ensembl
• Gene name: CLPTM1 regulator of GABA type A receptor forward trafficking
• Alternate names: cleft lip and palate transmembrane protein 1, CLPTM1, transmembrane protein, cleft lip and palate associated transmembrane protein 1,
• Gene location: 19q13.32 (44954584: 44993345)     Exons: 16     NC_000019.10
• OMIM: 604783

Protein Summary

• Protein general information: O96005  
  • Name: Cleft lip and palate transmembrane protein 1
  • Length: 669  
  • Mass: 76097
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVLFRIFIIWAISSWFRR
  GPAPQDQAGPGGAPRVASRNLFPKDTLMNLHVYISEHEHFTDFNATSALFWEQHDLVYGDWTSGENSDGCYEHFA
  ELDIPQSVQQNGSIYIHVYFTKSGFHPDPRQKALYRRLATVHMSRMINKYKRRRFQKTKNLLTGETEADPEMIKR
  AEDYGPVEVISHWHPNITINIVDDHTPWVKGSVPPPLDQYVKFDAVSGDYYPIIYFNDYWNLQKDYYPINESLAS
  LPLRVSFCPLSLWRWQLYAAQSTKSPWNFLGDELYEQSDEEQDSVKVALLETNPYLLALTIIVSIVHSVFEFLAF
  KNDIQFWNSRQSLEGLSVRSVFFGVFQSFVVLLYILDNETNFVVQVSVFIGVLIDLWKITKVMDVRLDREHRVAG
  IFPRLSFKDKSTYIESSTKVYDDMAFRYLSWILFPLLGCYAVYSLLYLEHKGWYSWVLSMLYGFLLTFGFITMTP
  QLFINYKLKSVAHLPWRMLTYKALNTFIDDLFAFVIKMPVMYRIGCLRDDVVFFIYLYQRWIYRVDPTRVNEFGM
  SGEDPTAAAPVAEVPTAAGALTPTPAPTTTTATREEASTSLPTKPTQGASSASEPQEAPPKPAEDKKKD

• Structural information:
  • Interpro: IPR008429  
  • STRING: ENSP00000336994
• Other Databases: GeneCards:  CLPTM1  Malacards:  CLPTM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0033081	regulation of T cell differentiation in thymus	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	ISS	cellular component
GO:0033081	regulation of T cell differentiation in thymus	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq