• Gene id: 23256

Gene Summary

• Gene Symbol: SCFD1   Gene   UCSC   Ensembl
• Aliases: C14orf163, RA410, SLY1, SLY1P, STXBP1L2
• Gene name: sec1 family domain containing 1
• Alternate names: sec1 family domain-containing protein 1, syntaxin-binding protein 1-like 2, vesicle transport-related protein,
• Gene location: 14q12 (30622253: 30735849)     Exons: 29     NC_000014.9
• OMIM: 618207

Protein Summary

• Protein general information: Q8WVM8  
  • Name: Sec1 family domain containing protein 1 (SLY1 homolog) (Sly1p) (Syntaxin binding protein 1 like 2)
  • Length: 642  
  • Mass: 72380
• Sequence:

  MAAAAAATAAAAASIRERQTVALKRMLNFNVPHIKNSTGEPVWKVLIYDRFGQDIISPLLSVKELRDMGITLHLL
  LHSDRDPIPDVPAVYFVMPTEENIDRMCQDLRNQLYESYYLNFISAISRSKLEDIANAALAASAVTQVAKVFDQY
  LNFITLEDDMFVLCNQNKELVSYRAINRPDITDTEMETVMDTIVDSLFCFFVTLGAVPIIRCSRGTAAEMVAVKL
  DKKLRENLRDARNSLFTGDTLGAGQFSFQRPLLVLVDRNIDLATPLHHTWTYQALVHDVLDFHLNRVNLEESSGV
  ENSPAGARPKRKNKKSYDLTPVDKFWQKHKGSPFPEVAESVQQELESYRAQEDEVKRLKSIMGLEGEDEGAISML
  SDNTAKLTSAVSSLPELLEKKRLIDLHTNVATAVLEHIKARKLDVYFEYEEKIMSKTTLDKSLLDIISDPDAGTP
  EDKMRLFLIYYISTQQAPSEADLEQYKKALTDAGCNLNPLQYIKQWKAFTKMASAPASYGSTTTKPMGLLSRVMN
  TGSQFVMEGVKNLVLKQQNLPVTRILDNLMEMKSNPETDDYRYFDPKMLRGNDSSVPRNKNPFQEAIVFVVGGGN
  YIEYQNLVDYIKGKQGKHILYGCSELFNATQFIKQLSQLGQK

• Structural information:
  • Interpro: IPR027482  IPR001619  IPR036045  
  • STRING: ENSP00000390783
• Other Databases: GeneCards:  SCFD1  Malacards:  SCFD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000902	cell morphogenesis	ISS	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0019905	syntaxin binding	IBA	molecular function
GO:0000139	Golgi membrane	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060628	regulation of ER to Golgi vesicle-mediated transport	IEA	biological process
GO:0005798	Golgi-associated vesicle	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:1901998	toxin transport	IEA	biological process
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0019905	syntaxin binding	IEA	molecular function
GO:0006892	post-Golgi vesicle-mediated transport	IEA	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0005801	cis-Golgi network	IDA	cellular component
GO:0051223	regulation of protein transport	IMP	biological process
GO:1902902	negative regulation of autophagosome assembly	IMP	biological process
GO:0019905	syntaxin binding	ISS	molecular function
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0060628	regulation of ER to Golgi vesicle-mediated transport	ISS	biological process
GO:0009636	response to toxic substance	IEP	biological process
GO:0005798	Golgi-associated vesicle	ISS	cellular component
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:0006892	post-Golgi vesicle-mediated transport	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
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)
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
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq