CERT1 (ceramide transporter 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10087
Gene name Ceramide transporter 1
Gene symbol CERT1
Synonyms (NCBI Gene)
CERTCERTLCOL4A3BPGPBPMRD34NEDHSFSTARD11
Chromosome 5
Chromosome location 5q13.3
Summary 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
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs1057522045 G>T Likely-pathogenic Missense variant, coding sequence variant
rs1064794019 G>A Pathogenic Missense variant, coding sequence variant
rs1554038957 C>T Likely-pathogenic Coding sequence variant, missense variant
rs1554039069 A>G Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (41)
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0003007 Process Heart morphogenesis IEA
GO:0005515 Function Protein binding IPI 10212244, 16189514, 16895911, 22396542, 25416956, 28514442, 29858488, 29892012, 31515488, 32296183, 32707033, 33961781
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604677 2205 ENSG00000113163
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y5P4
Protein 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)
Protein function Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner. {ECO:0000269|PubMed:14685229, ECO:0000269|PubMed:17591919, ECO:0000
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 24 → 117 PH domain Domain
PF01852 START 400 → 619 START domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence 
MSDNQSWNSSGSEEDPETESGPPVERCGVLSKWTNYIHGWQDRWVVLKNNALSYYKSEDE
TEYGCRGSICLSKAVITPHDFDECRFDISVNDSVWYLRAQDPDHRQQWIDAIEQHKTESG
YGSESSLRRHGSMVSLVSGASGYSATSTSSFKKGHSLREKLAEMETFRDILCRQVDTLQK
YFDACADAVSKDELQRDKVVEDDEDDFPTTRSDGDFLHSTNGNKEKLFPHVTPKGINGID
FKGEAITFKATTAGILATLSHCIELMVKREDSWQKRLDKETEKKRRTEEAYKNAMTELKK
KSHFGGPDYEEGPNSLINEEEFFDAVEAALDRQDKIEEQSQSEKVRLHWPTSLPSGDAFS
SVGTHRFVQKPYSRSSSMSSIDLVSASDDVHRFSSQVEEMVQNHMTYSLQDVGGDANWQL
VVEEGEMKVYRREVEENGIVLDPLKATHAVKGVTGHEVCNYFWNVDVRNDWETTIENFHV
VETLADNAIIIYQTHKRVWPASQRDVLYLSVIRKIPALTENDPETWIVCNFSVDHDSAPL
NNRCVRAKINVAMICQTLVSPPEGNQEISRDNILCKITYVANVNPGGWAPASVLRAVAKR
EYPKFLKRFTSYVQEKTAGKPILF
Sequence length 624
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
44
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal dominant 34 Likely pathogenic; Pathogenic rs2112150100, rs1554048616, rs1580752093 RCV003330150
RCV000662102
RCV004799277
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CERT1-related disorder Benign; Likely benign rs698912, rs142100179, rs141293652, rs3761743, rs747392475, rs746786853, rs556130884, rs764260078, rs115687524, rs143317974, rs138699646, rs61759489, rs5744540, rs150201400 RCV003975963
RCV003919569
RCV003907338
RCV003974460
RCV003977231
RCV003914518
RCV003944729
RCV003946870
RCV003976798
RCV003945568
RCV003928588
RCV003950384
RCV003975608
RCV003950803
COL4A3BP-related disorder not provided rs2111982436 RCV002509016
Intellectual disability Likely benign rs202137230 RCV001251956
Microcephaly Uncertain significance rs1016443351 RCV000850078
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anti Glomerular Basement Membrane Disease Associate 11007769, 20177069
Autoimmune Diseases Associate 11007769, 20177069
Congenital Abnormalities Associate 36849876
Developmental Disabilities Associate 36849876
Drug Related Side Effects and Adverse Reactions Associate 17560332
Fabry Disease Associate 36976648
Intellectual Disability Associate 33347465, 34688657, 36976648
Lichen Planus Associate 11007769
Lung Neoplasms Associate 24012694
Lupus Erythematosus Cutaneous Stimulate 11007769