CERT1 ceramide transporter 1 [Homo sapiens (human)] - Gene

Summary

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; NEDHSF; 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: mouse all
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Genomic context

Location:: 5q13.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (75368486..75511981, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (75849379..75993050, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (74664311..74807806, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Title: CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer.
Title: Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer.
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.
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.
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.
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.
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.
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.
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	Compare labs

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2440 (e-PCR)
- UniSTS:59934

SHGC-36269 (e-PCR)
- UniSTS:82739

RH80548 (e-PCR)
- UniSTS:92511

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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ER to Golgi ceramide transport	IGI Inferred from Genetic Interaction more info	PubMed
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 lipid transfer	IEA Inferred from Electronic Annotation 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

EC 2.7.11.1

NP_001365931.1

EC 2.7.11.1

NP_001365932.1

EC 2.7.11.1

NP_001365933.1

EC 2.7.11.1

NP_001365958.1

EC 2.7.11.1

NP_005704.1

EC 2.7.11.1

NP_112729.1

EC 2.7.11.1

XP_011541392.1

EC 2.7.11.1

XP_054207359.1

EC 2.7.11.1

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

NG_029492.2 RefSeqGene

Range

5352..139206

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

75368486..75511981 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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