• Gene id: 9197

Gene Summary

• Gene Symbol: SLC33A1   Gene   UCSC   Ensembl
• Aliases: ACATN, AT-1, AT1, CCHLND, SPG42
• Gene name: solute carrier family 33 member 1
• Alternate names: acetyl-coenzyme A transporter 1, solute carrier family 33 (acetyl-CoA transporter), member 1,
• Gene location: 3q25.31 (155855357: 155821023)     Exons: 5     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have
• OMIM: 602843

Protein Summary

• Protein general information: O00400  
  • Name: Acetyl coenzyme A transporter 1 (AT 1) (Acetyl CoA transporter 1) (Solute carrier family 33 member 1)
  • Length: 549  
  • Mass: 60909
  • Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. {ECO
• Sequence:

  MSPTISHKDSSRQRRPGNFSHSLDMKSGPLPPGGWDDSHLDSAGREGDREALLGDTGTGDFLKAPQSFRAELSSI
  LLLLFLYVLQGIPLGLAGSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVYVKNFGRRKSWLVPTQYI
  LGLFMIYLSTQVDRLLGNTDDRTPDVIALTVAFFLFEFLAATQDIAVDGWALTMLSRENVGYASTCNSVGQTAGY
  FLGNVLFLALESADFCNKYLRFQPQPRGIVTLSDFLFFWGTVFLITTTLVALLKKENEVSVVKEETQGITDTYKL
  LFAIIKMPAVLTFCLLILTAKIGFSAADAVTGLKLVEEGVPKEHLALLAVPMVPLQIILPLIISKYTAGPQPLNT
  FYKAMPYRLLLGLEYALLVWWTPKVEHQGGFPIYYYIVVLLSYALHQVTVYSMYVSIMAFNAKVSDPLIGGTYMT
  LLNTVSNLGGNWPSTVALWLVDPLTVKECVGASNQNCRTPDAVELCKKLGGSCVTALDGYYVESIICVFIGFGWW
  FFLGPKFKKLQDEGSSSWKCKRNN

• Structural information:
  • Interpro: IPR024371  IPR004752  IPR036259  
  • STRING: ENSP00000376587
• Other Databases: GeneCards:  SLC33A1  Malacards:  SLC33A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015295	solute:proton symporter activity	IBA	molecular function
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0008521	acetyl-CoA transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008521	acetyl-CoA transmembrane transporter activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0008521	acetyl-CoA transmembrane transporter activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0015876	acetyl-CoA transport	IEA	biological process
GO:0015876	acetyl-CoA transport	IEA	biological process
GO:0015876	acetyl-CoA transport	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00604	Glycosphingolipid biosynthesis - ganglio series

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray