• Gene id: 55754

Gene Summary

• Gene Symbol: TMEM30A   Gene   UCSC   Ensembl
• Aliases: C6orf67, CDC50A
• Gene name: transmembrane protein 30A
• Alternate names: cell cycle control protein 50A, P4-ATPase flippase complex beta subunit TMEM30A,
• Gene location: 6q14.1 (75284791: 75252923)     Exons: 7     NC_000006.12
• OMIM: 611028

Protein Summary

• Protein general information: Q9NV96  
  • Name: Cell cycle control protein 50A (P4 ATPase flippase complex beta subunit TMEM30A) (Transmembrane protein 30A)
  • Length: 361  
  • Mass: 40684
• Sequence:

  MAMNYNAKDEVDGGPPCAPGGTAKTRRPDNTAFKQQRLPAWQPILTAGTVLPIFFIIGLIFIPIGIGIFVTSNNI
  REIEIDYTGTEPSSPCNKCLSPDVTPCFCTINFTLEKSFEGNVFMYYGLSNFYQNHRRYVKSRDDSQLNGDSSAL
  LNPSKECEPYRRNEDKPIAPCGAIANSMFNDTLELFLIGNDSYPIPIALKKKGIAWWTDKNVKFRNPPGGDNLEE
  RFKGTTKPVNWLKPVYMLDSDPDNNGFINEDFIVWMRTAALPTFRKLYRLIERKSDLHPTLPAGRYSLNVTYNYP
  VHYFDGRKRMILSTISWMGGKNPFLGIAYIAVGSISFLLGVVLLVINHKYRNSSNTADITI

• Structural information:
  • Interpro: IPR005045  IPR030351  
  • PDB: 6K7G 6K7H 6K7I 6K7J 6K7K 6K7L 6K7M 6K7N
  • PDBsum: 6K7G 6K7H 6K7I 6K7J 6K7K 6K7L 6K7M 6K7N
  • STRING: ENSP00000230461
• Other Databases: GeneCards:  TMEM30A  Malacards:  TMEM30A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0045332	phospholipid translocation	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0006855	drug transmembrane transport	IDA	biological process
GO:0045332	phospholipid translocation	IDA	biological process
GO:0015914	phospholipid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0045332	phospholipid translocation	IEA	biological process
GO:0015247	aminophospholipid flippase activity	IDA	molecular function
GO:0015917	aminophospholipid transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0140331	aminophospholipid translocation	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070863	positive regulation of protein exit from endoplasmic reticulum	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036010	protein localization to endosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq