CERT1 - ceramide transporter 1 Gene
Also Known as CERT; GPBP; CERTL; MRD34; STARD11; COL4A3BP
生物種: Homo sapiens
About CERT1
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 |
CERT1 Protein Structure
PH: PH domain (24 - 114)
START: START domain (414 - 618)
- 0
- 100
- 200
- 300
- 400
- 500
- 624 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ceramide transfer protein |
|
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 |
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 |
|
|
| Autosomal Recessive Alport Syndrome |
|
|
| Goodpasture Syndrome |
|
|
| Patellofemoral Pain Syndrome |
|
|
| Lymphogranuloma Venereum |
|
|
| Granuloma Inguinale |
|
|
| Autoimmune Disease Of Urogenital Tract |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
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 |