• Gene id: 5757

Gene Summary

• Gene Symbol: PTMA   Gene   UCSC   Ensembl
• Aliases: TMSA
• Gene name: prothymosin alpha
• Alternate names: prothymosin alpha, gene sequence 28, prothymosin alpha protein, prothymosin-I+/-,
• Gene location: 2q37.1 (231708524: 231713540)     Exons: 6     NC_000002.12
• OMIM: 617834

SNPs

rs631357

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.20666326G>A
NC_000001.11   g.20666326G>C
NC_000001.10   g.20992819G>A
NC_000001.10   g.20992819G>C
NG_032064.1   g.219C>T
NG_032064.1   g.219C>G
NM_020816.3   c.2799C>T
NM_020816.3   c.2799C>G
NM_020816.4   c.2799C>T
NM_020816.4   c.2799C>G
NM_020816.2  

Protein Summary

• Protein general information: P06454  
  • Name: Prothymosin alpha [Cleaved into: Prothymosin alpha, N terminally processed; Thymosin alpha 1]
  • Length: 111  
  • Mass: 12203
• Sequence:

  MSDAAVDTSSEITTKDLKEKKEVVEEAENGRDAPANGNAENEENGEQEADNEVDEEEEEGGEEEEEEEEGDGEEE
  DGDEDEEAESATGKRAAEDDEDDDVDTKKQKTDEDD

• Structural information:
  • Interpro: IPR004931  
  • PDB: 2L9I 2MNQ
  • PDBsum: 2L9I 2MNQ
  • DIP: 40743
  • STRING: ENSP00000344547
• Other Databases: GeneCards:  PTMA  Malacards:  PTMA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006351	transcription, DNA-templated	TAS	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:0042393	histone binding	IEA	molecular function
GO:0043486	histone exchange	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0033613	activating transcription factor binding	IPI	molecular function

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq