• Gene id: 142891

Gene Summary

• Gene Symbol: SAMD8   Gene   UCSC   Ensembl
• Aliases: HEL-177, SMSr
• Gene name: sterile alpha motif domain containing 8
• Alternate names: sphingomyelin synthase-related protein 1, CPE synthase, HEL-S-181mP, SAM domain-containing protein 8, ceramide phosphoethanolamine synthase, epididymis luminal protein 177, epididymis secretory sperm binding protein Li 181mP, sphingomyelin synthase related, steri,
• Gene location: 10q22.2 (75099574: 75182122)     Exons: 9     NC_000010.11
• OMIM: 611575

Protein Summary

• Protein general information: Q96LT4  
  • Name: Sphingomyelin synthase related protein 1 (SMSr) (EC 2.7.8. ) (Ceramide phosphoethanolamine synthase) (CPE synthase) (Sterile alpha motif domain containing protein 8) (SAM domain containing protein 8)
  • Length: 415  
  • Mass: 48321
• Sequence:

  MAGPNQLCIRRWTTKHVAVWLKDEGFFEYVDILCNKHRLDGITLLTLTEYDLRSPPLEIKVLGDIKRLMLSVRKL
  QKIHIDVLEEMGYNSDSPMGSMTPFISALQSTDWLCNGELSHDCDGPITDLNSDQYQYMNGKNKHSVRRLDPEYW
  KTILSCIYVFIVFGFTSFIMVIVHERVPDMQTYPPLPDIFLDSVPRIPWAFAMTEVCGMILCYIWLLVLLLHKHR
  SILLRRLCSLMGTVFLLRCFTMFVTSLSVPGQHLQCTGKIYGSVWEKLHRAFAIWSGFGMTLTGVHTCGDYMFSG
  HTVVLTMLNFFVTEYTPRSWNFLHTLSWVLNLFGIFFILAAHEHYSIDVFIAFYITTRLFLYYHTLANTRAYQQS
  RRARIWFPMFSFFECNVNGTVPNEYCWPFSKPAIMKRLIG

• Structural information:
  • Protein Domains: (12..7-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR001660  IPR013761  IPR025749  
  • Prosite: PS50105
  • STRING: ENSP00000438042
• Other Databases: GeneCards:  SAMD8  Malacards:  SAMD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0046513	ceramide biosynthetic process	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0030148	sphingolipid biosynthetic process	IBA	biological process
GO:0033188	sphingomyelin synthase activity	IBA	molecular function
GO:0047493	ceramide cholinephosphotransferase activity	IBA	molecular function
GO:2000303	regulation of ceramide biosynthetic process	IDA	biological process
GO:0046513	ceramide biosynthetic process	IDA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0002950	ceramide phosphoethanolamine synthase activity	TAS	molecular function
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:1905373	ceramide phosphoethanolamine biosynthetic process	IEA	biological process
GO:0002950	ceramide phosphoethanolamine synthase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0006686	sphingomyelin biosynthetic process	NAS	biological process

Diseases

Associated diseases	References
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)