Cert1 ceramide transporter 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cert1provided by MGI
Official Full Name: ceramide transporter 1provided by MGI
Primary source: MGI:MGI:1915268
See related: Ensembl:ENSMUSG00000021669 AllianceGenome:MGI:1915268
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CERT; GPBP; Col4a3bp; 2810404O15Rik; 9230101K08Rik
Summary: Enables kinase activity. Involved in ER to Golgi ceramide transport. Acts upstream of or within several processes, including ceramide metabolic process; lipid homeostasis; and mitochondrion morphogenesis. Located in cytosol and mitochondrion. Is expressed in several structures, including alimentary system; eye; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 34. Orthologous to human CERT1 (ceramide transporter 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 14.2), adrenal adult (RPKM 13.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 D1; 13 50.58 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (96679243..96782362)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (96542709..96640167)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Embryo implantation triggers dynamic spatiotemporal expression of the basement membrane toolkit (Col4a1, GPBP, Lamc1, peroxidasin) during uterine reprogramming.
Title: Embryo implantation triggers dynamic spatiotemporal expression of the basement membrane toolkit during uterine reprogramming.
CERT protein deficiency compromises mitochondrial function and leads to senescence in primary cells.
Title: Ceramide transfer protein deficiency compromises organelle function and leads to senescence in primary cells.
knockdown of CERT alone was not sufficient to increase young oocyte's susceptibility to death
Title: Ceramide and its transport protein (CERT) contribute to deterioration of mitochondrial structure and function in aging oocytes.
GPBP directs myofibril formation through interaction with intracellular downstream effector 130-kDa GPBP-interacting protein
Title: Goodpasture antigen-binding protein (GPBP) directs myofibril formation: identification of intracellular downstream effector 130-kDa GPBP-interacting protein (GIP130).
CERT is an essential gene for mouse development and embryonic survival and is critical for mitochondrial integrity.
Title: Mitochondrial degeneration and not apoptosis is the primary cause of embryonic lethality in ceramide transfer protein mutant mice.
CERT can attenuate a key metabolic protective mechanism against ceramide-induced apoptosis in keratinocytes
Title: Decreased ceramide transport protein (CERT) function alters sphingomyelin production following UVB irradiation.
CERT is a physiological substrate of PP2Cepsilon and that dephosphorylation of CERT by PP2Cepsilon may play an important role in the regulation of ceramide trafficking from the ER to the Golgi apparatus.
Title: Protein phosphatase 2Cepsilon is an endoplasmic reticulum integral membrane protein that dephosphorylates the ceramide transport protein CERT to enhance its association with organelle membranes.
VEGF inhibitor also partially prevented the stimulation of alpha3(IV) collagen by transforming growth factor (TGF)-beta1.
Title: Podocyte-derived vascular endothelial growth factor mediates the stimulation of alpha3(IV) collagen production by transforming growth factor-beta1 in mouse podocytes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ceramide binding	ISO Inferred from Sequence Orthology more info
enables ceramide transfer activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4-phosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in ER to Golgi ceramide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in ER to Golgi ceramide transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ER to Golgi ceramide transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ceramide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermembrane sphingolipid transfer	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
colocalizes_with perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ceramide transfer protein

Names: START domain-containing protein 11; ceramide transport protein; collagen type IV alpha-3-binding protein; collagen, type IV, alpha 3 (Goodpasture antigen) binding protein; goodpasture antigen-binding protein; procollagen, type IV, alpha 3 (Goodpasture antigen) binding protein; stAR-related lipid transfer protein 11; stARD11

NP_001157694.1

EC 2.7.11.1

NP_075909.1

EC 2.7.11.1

XP_030103245.1

EC 2.7.11.1

XP_036014034.1

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.

mRNA and Protein(s)

NM_001164222.1 → NP_001157694.1 ceramide transfer protein isoform 2

See identical proteins and their annotated locations for NP_001157694.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC122828, AC154851, AK012989, BB654693

Consensus CDS

CCDS49335.1

UniProtKB/TrEMBL

Q8BSX8

Related

ENSMUSP00000105070.3, ENSMUST00000109444.3

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_023420.2 → NP_075909.1 ceramide transfer protein isoform 1

See identical proteins and their annotated locations for NP_075909.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC122828, AC154851, AK012989, AK080958, BB654693

Consensus CDS

CCDS26705.1

UniProtKB/Swiss-Prot

Q3TQF6, Q8BNN8, Q8C8H3, Q8CAR3, Q91WB1, Q9CU52, Q9EQG8, Q9EQG9

UniProtKB/TrEMBL

Q8BSX8

Related

ENSMUSP00000076856.5, ENSMUST00000077672.12

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

96679243..96782362

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030247385.2 → XP_030103245.1 ceramide transfer protein isoform X1

Conserved Domains (1) summary

cd08872
Location:259 → 492

START_STARD11-like; Ceramide-binding START domain of mammalian STARD11 and related domains
XM_036158141.1 → XP_036014034.1 ceramide transfer protein isoform X2

UniProtKB/TrEMBL

Q8BSX8

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