CERT1 - ceramide transporter 1 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 10087

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
Molecular Function GO Annotation Evidence 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

PH

PH: PH domain (24 - 114)

START

START: START domain (414 - 618)

  • 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
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
CERT1 Q9Y5P4 ACTL8 Homo sapiens Q9H568 25416956
Intra
CERT1 Q9Y5P4 ACTL8 Homo sapiens Q9H568 25416956
Intra
CERT1 Q9Y5P4 ACTL8 Homo sapiens Q9H568 25416956
Intra
CERT1 Q9Y5P4 ARL6IP1 Homo sapiens Q15041 25416956
Intra
CERT1 Q9Y5P4 ARL6IP1 Homo sapiens Q15041 25416956
Intra
CERT1 Q9Y5P4 RTN4 Homo sapiens Q9NQC3 16189514
Intra
CERT1 Q9Y5P4 RTN3 Homo sapiens O95197 16189514
Intra
CERT1 Q9Y5P4 CSNK1G2 Homo sapiens P78368 25416956
Intra
CERT1 Q9Y5P4 CSNK1G2 Homo sapiens P78368 25416956
Intra
CERT1 Q9Y5P4 CSNK1G2 Homo sapiens P78368 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CERT1 Proteins

製品番号 製品名 アクセッション番号 純度
HY-P76844 COL4A3BP Protein, Human (sf9, His-GST) Q9Y5P4-2 (M1-F598) ≥ 90%, as determined by reducing SDS-PAGE.

関連疾患

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

Orthologs Information

生物種 Symbol 由来 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