• Gene id: 9725

Gene Summary

• Gene Symbol: TMEM63A   Gene   UCSC   Ensembl
• Aliases: HLD19, KIAA0792
• Gene name: transmembrane protein 63A
• Alternate names: CSC1-like protein 1,
• Gene location: 1q42.12 (178590392: 178237615)     Exons: 32     NC_000005.10
• OMIM: 618685

Protein Summary

• Protein general information: O94886  
  • Name: CSC1 like protein 1 (Transmembrane protein 63A)
  • Length: 807  
  • Mass: 92126
• Sequence:

  MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQGVTFGGIPTVLLIDVSCFLFLILVFSIIRRRF
  WDYGRIALVSEADSESRFQRLSSTSSSGQQDFENELGCCPWLTAIFRLHDDQILEWCGEDAIHYLSFQRHIIFLL
  VVVSFLSLCVILPVNLSGDLLDKDPYSFGRTTIANLQTDNDLLWLHTIFAVIYLFLTVGFMRHHTQSIKYKEENL
  VRRTLFITGLPRDARKETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEKKKTEKSLTYYTNLQVKTGQRTLIN
  PKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLERITEEERHVQDQPLGMAFVTFQEKSMATYILKDFNACKCQSL
  QCKGEPQPSSHSRELYTSKWTVTFAADPEDICWKNLSIQGLRWWLQWLGINFTLFLGLFFLTTPSIILSTMDKFN
  VTKPIHALNNPIISQFFPTLLLWSFSALLPSIVYYSTLLESHWTKSGENQIMMTKVYIFLIFMVLILPSLGLTSL
  DFFFRWLFDKTSSEASIRLECVFLPDQGAFFVNYVIASAFIGNGMELLRLPGLILYTFRMIMAKTAADRRNVKQN
  QAFQYEFGAMYAWMLCVFTVIVAYSITCPIIAPFGLIYILLKHMVDRHNLYFVYLPAKLEKGIHFAAVNQALAAP
  ILCLFWLYFFSFLRLGMKAPATLFTFLVLLLTILVCLAHTCFGCFKHLSPLNYKTEEPASDKGSEAEAHMPPPFT
  PYVPRILNGLASERTALSPQQQQQQTYGAIHNISGTIPGQCLAQSATGSVAAAPQEA

• Structural information:
  • Interpro: IPR032880  IPR027815  IPR035979  IPR003864  IPR026957  
  • STRING: ENSP00000355800
• Other Databases: GeneCards:  TMEM63A  Malacards:  TMEM63A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005227	calcium activated cation channel activity	IBA	molecular function
GO:0008381	mechanosensitive ion channel activity	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0008381	mechanosensitive ion channel activity	IMP	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:1990760	osmolarity-sensing cation channel activity	ISS	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0008381	mechanosensitive ion channel activity	IEA	molecular function
GO:1990760	osmolarity-sensing cation channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

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			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