AEBP1 - AE binding protein 1 Gene
Also Known as ACLP
Species: Homo sapiens
About AEBP1
This gene has 9 transcripts (splice variants), 264 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in gall bladder (RPKM 100.0), endometrium (RPKM 86.2) and 23 other tissues.
Summary
This gene encodes a member of Carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
AEBP1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001129.5 | NP_001120.3 | adipocyte enhancer-binding protein 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
15654748 | GOA |
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IMP
IMP: Inferred from mutant phenotype
|
15654748 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
15654748 | GOA |
| enables collagen binding |
IDA
IDA: Inferred from direct assay
|
29606302 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
15654748 | GOA |
| involved in regulation of collagen fibril organization |
IDA
IDA: Inferred from direct assay
|
29606302 | GOA |
AEBP1 Protein Structure
F5_F8_type_C: F5/8 type C domain (399 - 537)
Peptidase_M14: Zinc carboxypeptidase (570 - 895)
CarboxypepD_reg: Carboxypeptidase regulatory-like domain (908 - 970)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1158 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
adipocyte enhancer-binding protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
|
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
|
| Gastroschisis |
|
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| Ehlers-Danlos Syndrome, Classic-Like |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Larsen-Like Syndrome B3gat3 Type |
|
|
| Caspase 8 Deficiency |
|
|
| Glioblastoma |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | AEBP1 | VGNC | VGNC:37681 |
| Felis catus | AEBP1 | VGNC | VGNC:59662 |
| Macaca mulatta | AEBP1 | VGNC | VGNC:80328 |
| Bos taurus | AEBP1 | VGNC | VGNC:25703 |
| Mus musculus | AEBP1 | MGD | MGI:1197012 |
| Rattus norvegicus | AEBP1 | RGD | RGD:1306922 |
| Others | AEBP1 | NCBI |