• Gene id: 10087

Gene Summary

• Gene Symbol: CERT1   Gene   UCSC   Ensembl
• Aliases: CERT, CERTL, COL4A3BP, GPBP, MRD34, STARD11
• Gene name: ceramide transporter 1
• Alternate names: ceramide transfer protein, StAR-related lipid transfer (START) domain containing 11, ceramide transporter, collagen type IV alpha 3 binding protein, collagen, type IV, alpha 3 (Goodpasture antigen) binding protein, lipid-transfer protein CERTL,
• Gene location: 5q13.3 (75511980: 75368485)     Exons: 20     NC_000005.10
• Gene summary(Entrez): This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directe
• OMIM: 604677

Protein Summary

• Protein general information: Q9Y5P4  
  • Name: Ceramide transfer protein (hCERT) (Collagen type IV alpha 3 binding protein) (Goodpasture antigen binding protein) (GPBP) (START domain containing protein 11) (StARD11) (StAR related lipid transfer protein 11)
  • Length: 624  
  • Mass: 70835
  • Tissue specificity: Widely expressed.
• Sequence:

  MSDNQSWNSSGSEEDPETESGPPVERCGVLSKWTNYIHGWQDRWVVLKNNALSYYKSEDETEYGCRGSICLSKAV
  ITPHDFDECRFDISVNDSVWYLRAQDPDHRQQWIDAIEQHKTESGYGSESSLRRHGSMVSLVSGASGYSATSTSS
  FKKGHSLREKLAEMETFRDILCRQVDTLQKYFDACADAVSKDELQRDKVVEDDEDDFPTTRSDGDFLHSTNGNKE
  KLFPHVTPKGINGIDFKGEAITFKATTAGILATLSHCIELMVKREDSWQKRLDKETEKKRRTEEAYKNAMTELKK
  KSHFGGPDYEEGPNSLINEEEFFDAVEAALDRQDKIEEQSQSEKVRLHWPTSLPSGDAFSSVGTHRFVQKPYSRS
  SSMSSIDLVSASDDVHRFSSQVEEMVQNHMTYSLQDVGGDANWQLVVEEGEMKVYRREVEENGIVLDPLKATHAV
  KGVTGHEVCNYFWNVDVRNDWETTIENFHVVETLADNAIIIYQTHKRVWPASQRDVLYLSVIRKIPALTENDPET
  WIVCNFSVDHDSAPLNNRCVRAKINVAMICQTLVSPPEGNQEISRDNILCKITYVANVNPGGWAPASVLRAVAKR
  EYPKFLKRFTSYVQEKTAGKPILF

• Structural information:
  • Protein Domains: (23..11-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (389..61-)
    (/note="START-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00197"-)
  • Interpro: IPR011993  IPR001849  IPR041952  IPR023393  IPR002913  
  • Prosite: PS50003 PS50848
  • CDD: cd08872
  • PDB: 2E3M 2E3N 2E3O 2E3P 2E3Q 2E3R 2E3S 2RSG 2Z9Y 2Z9Z 3H3Q 3H3R 3H3S 3H3T 4HHV 5JJD 5ZYG 5ZYH 5ZYI 5ZYJ 5ZYK 5ZYL 5ZYM 6IEZ 6IF0 6J0O 6J81
  • PDBsum: 2E3M 2E3N 2E3O 2E3P 2E3Q 2E3R 2E3S 2RSG 2Z9Y 2Z9Z 3H3Q 3H3R 3H3S 3H3T 4HHV 5JJD 5ZYG 5ZYH 5ZYI 5ZYJ 5ZYK 5ZYL 5ZYM 6IEZ 6IF0 6J0O 6J81
  • STRING: ENSP00000369862
• Other Databases: GeneCards:  CERT1  Malacards:  CERT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0035627	ceramide transport	IBA	biological process
GO:1902388	ceramide 1-phosphate transfer activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0008289	lipid binding	IBA	molecular function
GO:0035621	ER to Golgi ceramide transport	IBA	biological process
GO:0070273	phosphatidylinositol-4-phosphate binding	IBA	molecular function
GO:0120009	intermembrane lipid transfer	IBA	biological process
GO:1902387	ceramide 1-phosphate binding	IBA	molecular function
GO:0097001	ceramide binding	IDA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0120017	ceramide transfer activity	IDA	molecular function
GO:0120012	intermembrane sphingolipid transfer	IDA	biological process
GO:0035621	ER to Golgi ceramide transport	IMP	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055088	lipid homeostasis	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0006936	muscle contraction	IEA	biological process
GO:0006672	ceramide metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0070584	mitochondrion morphogenesis	IEA	biological process
GO:0035621	ER to Golgi ceramide transport	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:1902389	ceramide 1-phosphate transport	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	colocalizes with
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006955	immune response	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
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