CERT1 (ceramide transporter 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10087
Gene name Gene Name - the full gene name approved by the HGNC.
Ceramide transporter 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CERT1
Synonyms (NCBI Gene) Gene synonyms aliases
CERT, CERTL, COL4A3BP, GPBP, MRD34, NEDHSF, STARD11
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604677 2205 ENSG00000113163
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal dominant 34 rs1554048616 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease 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