• Gene id: 84418

Gene Summary

• Gene Symbol: CYSTM1   Gene   UCSC   Ensembl
• Aliases: C5orf32, ORF1-FL49
• Gene name: cysteine rich transmembrane module containing 1
• Alternate names: cysteine-rich and transmembrane domain-containing protein 1, UPF0467 protein C5orf32, putative nuclear protein ORF1-FL49,
• Gene location: 5q31.3 (140175187: 140243788)     Exons: 3     NC_000005.10

Protein Summary

• Protein general information: Q9H1C7  
  • Name: Cysteine rich and transmembrane domain containing protein 1
  • Length: 97  
  • Mass: 10631
• Sequence:

  MNQENPPPYPGPGPTAPYPPYPPQPMGPGPMGGPYPPPQGYPYQGYPQYGWQGGPQEPPKTTVYVVEDQRRDELG
  PSTCLTACWTALCCCCLWDMLT

• Structural information:
  • Interpro: IPR028144  
  • STRING: ENSP00000261811
• Other Databases: GeneCards:  CYSTM1  Malacards:  CYSTM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0070821	tertiary granule membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008150	biological_process	ND	biological process

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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