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CERT1 ceramide transporter 1 [ Homo sapiens (human) ]

Gene ID: 10087, updated on 3-Apr-2024

Summary

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Official Symbol
CERT1provided by HGNC
Official Full Name
ceramide transporter 1provided by HGNC
Primary source
HGNC:HGNC:2205
See related
Ensembl:ENSG00000113163 MIM:604677; AllianceGenome:HGNC:2205
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CERT; GPBP; CERTL; MRD34; STARD11; COL4A3BP
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 directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 18.3), fat (RPKM 18.1) and 25 other tissues See more
Orthologs
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Genomic context

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See CERT1 in Genome Data Viewer
Location:
5q13.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (75368486..75511981, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75849379..75993050, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74664311..74807806, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901007 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74625905-74626062 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74632956-74633516 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74633517-74634075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22679 Neighboring gene 3-hydroxy-3-methylglutaryl-CoA reductase Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74675495-74675665 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74683071-74684270 Neighboring gene ribosomal protein S26 pseudogene 26 Neighboring gene MPRA-validated peak5292 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74723894-74724394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74724395-74724895 Neighboring gene MPRA-validated peak5293 silencer Neighboring gene MPRA-validated peak5294 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22681 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:74832057-74832255 Neighboring gene DNA polymerase kappa Neighboring gene RNA, U7 small nuclear 175 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:74861405-74862604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22683 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:74884456-74885040 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74905964-74906771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74906772-74907578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:74907579-74908385 Neighboring gene ankyrin repeat and death domain containing 1B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:74959194-74960393 Neighboring gene NANOG hESC enhancer GRCh37_chr5:74962804-74963305

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Gehin C, et al. J Clin Invest, 2023 May 15. PMID 36976648, Free PMC Article
  2. Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer. Chung LH, et al. Int J Mol Sci, 2021 Dec 7. PMID 34947980, Free PMC Article
  3. Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution. Tamura N, et al. J Biol Chem, 2021 Nov. PMID 34688657, Free PMC Article
  4. Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT. Murakami H, et al. PLoS One, 2020. PMID 33347465, Free PMC Article
  5. Immunofluorescence Labeling of Lipid-Binding Proteins CERTs to Monitor Lipid Raft Dynamics. Giovagnoni C, et al. Methods Mol Biol, 2021. PMID 32770516

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The ceramide transport protein CERT is involved in alkylacylglycerol transfer from the ER to the Golgi for the biosynthesis of ether phospholipid.
    Title: The ceramide transport protein CERT is involved in alkylacylglycerol transfer from the ER to the Golgi for the biosynthesis of ether phospholipid.
  2. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
    Title: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
  3. Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer.
    Title: Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer.
  4. Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
    Title: Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
  5. A switchable ceramide transfer protein for dissecting the mechanism of ceramide-induced mitochondrial apoptosis.
    Title: A switchable ceramide transfer protein for dissecting the mechanism of ceramide-induced mitochondrial apoptosis.
  6. Immunofluorescence Labeling of Lipid-Binding Proteins CERTs to Monitor Lipid Raft Dynamics.
    Title: Immunofluorescence Labeling of Lipid-Binding Proteins CERTs to Monitor Lipid Raft Dynamics.
  7. Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
    Title: Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
  8. findings reveal the presence of GPBP in unicellular protists, with GPBP-2 as the most ancient isoform. In vertebrates, GPBP-1 assumed extracellular function that is further enhanced by membrane-bound GPBP-3 in mammalians, whereas GPBP-2 retained intracellular function.
    Title: Unicellular ancestry and mechanisms of diversification of Goodpasture antigen-binding protein.
  9. the size and number of multivesicular bodies were comparable in WT and STARD11-knockout cells. In conclusion, we propose a model of how STARD11 mediates ceramide trafficking in palmitate-treated cells and stimulates exosome biogenesis.
    Title: StAR-related lipid transfer domain 11 (STARD11)-mediated ceramide transport mediates extracellular vesicle biogenesis.
  10. Importance of Endoplasmic reticulum to Golgi ceramide traffic to preserve muscle cell insulin signaling, CERT as a major actor in this process.
    Title: Ceramide Transporter CERT Is Involved in Muscle Insulin Signaling Defects Under Lipotoxic Conditions.
Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, autosomal dominant 34
MedGen: C4225156 OMIM: 616351 GeneReviews: Not available
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Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2023-01-25)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2023-01-25)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20597

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ceramide 1-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ceramide 1-phosphate transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ceramide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ceramide transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ER to Golgi ceramide transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in ceramide 1-phosphate transport IEA
Inferred from Electronic Annotation
more info
  
involved_in ceramide metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
  
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in intermembrane lipid transfer IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intermembrane sphingolipid transfer IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrion organization IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle contraction IEA
Inferred from Electronic Annotation
more info
  
involved_in response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
colocalizes_with perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ceramide transfer protein
Names
StAR-related lipid transfer (START) domain containing 11
collagen type IV alpha 3 binding protein
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
lipid-transfer protein CERTL
NP_001123577.1
NP_001365931.1
NP_001365932.1
NP_001365933.1
NP_001365958.1
NP_005704.1
NP_112729.1
XP_011541392.1
XP_054207359.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029492.2 RefSeqGene

    Range
    5352..139206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130105.1 → NP_001123577.1  ceramide transfer protein isoform 3

    See identical proteins and their annotated locations for NP_001123577.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC008897, AK000604, AK096854
    Consensus CDS
    CCDS47235.1
    UniProtKB/Swiss-Prot
    Q9Y5P4
    Related
    ENSP00000383996.4, ENST00000405807.10
    Conserved Domains (2) summary
    cd08872
    Location:519 → 752
    START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
    cd13283
    Location:154 → 253
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain

  2. NM_001379002.1 → NP_001365931.1  ceramide transfer protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC008897, AC112183, AC116341
    Consensus CDS
    CCDS4028.1
    UniProtKB/Swiss-Prot
    A8K7S2, B3KUB7, Q53YV1, Q53YV2, Q96Q85, Q96Q88, Q9H2S7, Q9H2S8, Q9Y5P4
    UniProtKB/TrEMBL
    A0A2R8Y5S9
    Related
    ENSP00000261415.8, ENST00000261415.12
    Conserved Domains (2) summary
    cd08872
    Location:391 → 624
    START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain

  3. NM_001379003.1 → NP_001365932.1  ceramide transfer protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC008897, AC112183, AC116341
    Consensus CDS
    CCDS4029.1
    UniProtKB/TrEMBL
    A0A2R8Y5S9
    Related
    ENSP00000496243.1, ENST00000644445.1
    Conserved Domains (2) summary
    cd08872
    Location:364 → 598
    START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain

  4. NM_001379004.1 → NP_001365933.1  ceramide transfer protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC008897, AC112183, AC116341
    Consensus CDS
    CCDS93736.1
    UniProtKB/TrEMBL
    A0A2R8Y7C5, A0A2R8YE18
    Related
    ENSP00000496016.1, ENST00000642556.1
    Conserved Domains (2) summary
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain
    cl14643
    Location:364 → 557
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

  5. NM_001379029.1 → NP_001365958.1  ceramide transfer protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC112183, AC116341
    Consensus CDS
    CCDS4028.1
    UniProtKB/Swiss-Prot
    A8K7S2, B3KUB7, Q53YV1, Q53YV2, Q96Q85, Q96Q88, Q9H2S7, Q9H2S8, Q9Y5P4
    UniProtKB/TrEMBL
    A0A2R8Y5S9
    Related
    ENSP00000495760.1, ENST00000643780.2
    Conserved Domains (2) summary
    cd08872
    Location:391 → 624
    START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain

  6. NM_005713.3 → NP_005704.1  ceramide transfer protein isoform 1

    See identical proteins and their annotated locations for NP_005704.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding region compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AC008897, AK000604, AK292087, AY453386
    Consensus CDS
    CCDS4028.1
    UniProtKB/Swiss-Prot
    A8K7S2, B3KUB7, Q53YV1, Q53YV2, Q96Q85, Q96Q88, Q9H2S7, Q9H2S8, Q9Y5P4
    UniProtKB/TrEMBL
    A0A2R8Y5S9
    Related
    ENSP00000494110.2, ENST00000644072.2
    Conserved Domains (2) summary
    cd08872
    Location:391 → 624
    START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain

  7. NM_031361.3 → NP_112729.1  ceramide transfer protein isoform 2

    See identical proteins and their annotated locations for NP_112729.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (2) is shorter at the N-terminus and lacks an internal segment compared to isoform 3. The absence of the in-frame exon results in the loss of a protein motif and less phosphorylation activity. This isoform also mediates intracellular transport of ceramide from the endoplasmic reticulum to the Golgi apparatus.
    Source sequence(s)
    AC008897, AK000604, AK292087, AY453385
    Consensus CDS
    CCDS4029.1
    UniProtKB/TrEMBL
    A0A2R8Y5S9
    Related
    ENSP00000493563.1, ENST00000645483.1
    Conserved Domains (2) summary
    cd08872
    Location:364 → 598
    START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    75368486..75511981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543090.4 → XP_011541392.1  ceramide transfer protein isoform X1

    UniProtKB/TrEMBL
    A0A2R8YE18
    Conserved Domains (2) summary
    cd13283
    Location:26 → 125
    PH_GPBP; Goodpasture antigen binding protein Pleckstrin homology (PH) domain
    cl14643
    Location:391 → 583
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

RNA

  1. XR_007058566.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    75849379..75993050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351384.1 → XP_054207359.1  ceramide transfer protein isoform X1

RNA

  1. XR_008487067.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5P4.1 GenPept UniProtKB/Swiss-Prot:Q9Y5P4

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