DENND4A - DENN domain containing 4A Gene
Also Known as IRLB; MYCPBP
Species: Homo sapiens
About DENND4A
This gene has 9 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 7.2), lymph node (RPKM 6.2) and 25 other tissues.
Summary
This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]
DENND4A Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001144823.2 | NP_001138295.1 | C-myc promoter-binding protein isoform 1 |
| NM_001320835.1 | NP_001307764.1 | C-myc promoter-binding protein isoform 3 |
| NM_001376919.1 | NP_001363848.1 | C-myc promoter-binding protein isoform 2 |
| NM_001376920.1 | NP_001363849.1 | C-myc promoter-binding protein isoform 2 |
| NM_005848.4 | NP_005839.3 | C-myc promoter-binding protein isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
20937701 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15161933 | GOA |
DENND4A Protein Structure
uDENN: uDENN domain (212 - 276)
DENN: DENN (AEX-3) domain (309 - 492)
dDENN: dDENN domain (559 - 632)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1863 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
C-myc promoter-binding protein |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Trichohepatoenteric Syndrome 1 |
|
|
| Alkuraya-Kucinskas Syndrome |
|
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| Spastic Paraplegia 39, Autosomal Recessive |
|
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| Folic Acid Deficiency Anemia |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | DENND4A | VGNC | VGNC:39890 |
| Felis catus | DENND4A | VGNC | VGNC:61437 |
| Mus musculus | DENND4A | MGD | MGI:2142979 |
| Bos taurus | DENND4A | VGNC | VGNC:27999 |
| Macaca mulatta | DENND4A | VGNC | VGNC:71697 |
| Rattus norvegicus | DENND4A | RGD | RGD:1562639 |
| Others | DENND4A | NCBI |