CERT1 - ceramide transporter 1 Gene

Homo sapiens

Also known as CERT; GPBP; CERTL; MRD34; STARD11; COL4A3BP

Gene ID: 10087 | Gene type: protein coding

About CERT1

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:75,368,486-75,511,981 (from NCBI)

This gene has 29 transcripts (splice variants), 296 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 18.3), fat (RPKM 18.1) and 25 other tissues.

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]

CERT1 Products(7)

mRNA	Protein	Name
NM_001130105.1	NP_001123577.1	ceramide transfer protein isoform 3
NM_001379002.1	NP_001365931.1	ceramide transfer protein isoform 1
NM_001379003.1	NP_001365932.1	ceramide transfer protein isoform 2
NM_001379004.1	NP_001365933.1	ceramide transfer protein isoform 4
NM_001379029.1	NP_001365958.1	ceramide transfer protein isoform 1
NM_005713.3	NP_005704.1	ceramide transfer protein isoform 1
NM_031361.3	NP_112729.1	ceramide transfer protein isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ceramide binding	IDA IDA: Inferred from direct assay	14685229	GOA
enables ceramide transfer activity	IDA IDA: Inferred from direct assay	14685229	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables phosphatidylinositol-4-phosphate binding	IDA IDA: Inferred from direct assay	14685229	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10212244	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ER to Golgi ceramide transport	IGI IGI: Inferred from genetic interaction	14685229	GOA
involved in ER to Golgi ceramide transport	IMP IMP: Inferred from mutant phenotype	18184806	GOA
involved in intermembrane sphingolipid transfer	IDA IDA: Inferred from direct assay	18184806	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18184806	GOA
colocalizes with perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	16895911	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CERT1 Protein Structure

START

0
100
200
300
400
500
624 a.a.

Protein Preferred Names

Protein Names

ceramide transfer protein

StAR-related lipid transfer (START) domain containing 11

CERT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CERT1	Q9Y5P4	ACTL8	Homo sapiens	Q9H568	Y2H Array	25416956
Intra	CERT1	Q9Y5P4	ACTL8	Homo sapiens	Q9H568	Y2H Prey Pooling	25416956
Intra	CERT1	Q9Y5P4	ACTL8	Homo sapiens	Q9H568	Validated Y2H	25416956
Intra	CERT1	Q9Y5P4	ARL6IP1	Homo sapiens	Q15041	Validated Y2H	25416956
Intra	CERT1	Q9Y5P4	ARL6IP1	Homo sapiens	Q15041	Y2H Prey Pooling	25416956
Intra	CERT1	Q9Y5P4	RTN4	Homo sapiens	Q9NQC3	Y2H Pooling	16189514
Intra	CERT1	Q9Y5P4	RTN3	Homo sapiens	O95197	Y2H Pooling	16189514
Intra	CERT1	Q9Y5P4	CSNK1G2	Homo sapiens	P78368	Y2H Prey Pooling	25416956
Intra	CERT1	Q9Y5P4	CSNK1G2	Homo sapiens	P78368	Validated Y2H	25416956
Intra	CERT1	Q9Y5P4	CSNK1G2	Homo sapiens	P78368	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CERT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76844	COL4A3BP Protein, Human (sf9, His-GST)	Q9Y5P4 (M1-F598)	≥95%

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Dominant 34

MRD34	Mental Retardation, Autosomal Dominant 34
Autosomal Dominant Intellectual Developmental Disorder 34	Autosomal Dominant Mental Retardation 34
Autosomal Dominant Non-Syndromic Intellectual Disability 34	Mental Retardation, Autosomal Dominant, Type 34

Autosomal Recessive Alport Syndrome

Alport Syndrome, Recessive Type	Alport Syndrome, Autosomal Recessive
Alport Syndrome Autosomal Recessive	Alport Syndrome Recessive Type
Nephropathy And Deafness

Goodpasture Syndrome

Anti-Glomerular Basement Membrane Disease	Anti-Gbm Disease
Pulmonary Renal Syndrome	Anti-Glomerular Basement Membrane Antibody Disease
Glomerulonephritis - Pulmonary Hemorrhage	Rapidly Progressive Glomerulonephritis With Pulmonary Hemorrhage
Anti-Gbm Syndrome	Goodpasture'S Syndrome
Anti-Basement Membrane Glomerulonephritis

Patellofemoral Pain Syndrome

Lymphogranuloma Venereum

Climatic Or Tropical Bubo	Durand-Nicolas-Favre Disease
Lymphogranuloma Inguinale	Poradenitis Inguinale
Strumous Bubo	Lgv

Granuloma Inguinale

Donovanosis	Pudendal Ulcer
Granuloma Inguinale Tropicum	Granuloma Pudendi Tropicum

Autoimmune Disease Of Urogenital Tract

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02542	CERT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CERT1	MGD	MGI:1915268
Canis familiaris	CERT1	VGNC	VGNC:39475
Macaca mulatta	CERT1	VGNC	VGNC:71298
Felis catus	CERT1	VGNC	VGNC:61062
Bos taurus	CERT1	VGNC	VGNC:27566
Rattus norvegicus	CERT1	RGD	RGD:1309131
Others	CERT1	NCBI

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