Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
DEE49,EIEE49,RAB6IP1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23258
MIM: 617278
HGNC: 19344
Ensembl: ENSG00000184014
Variants:
dbSNP: 23258
ClinVar: 23258
TCGA: ENSG00000184014
COSMIC: DENND5A
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| RAB GEFs exchange GTP for GDP on RABs | REACTOME | R-HSA-8876198 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34906508 | 2022 | Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma. | 1 |
| 34906508 | 2022 | Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma. | 1 |
| 27866705 | 2016 | Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. | 15 |
| 27866705 | 2016 | Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. | 15 |
| 22558185 | 2012 | Mapping the interactions between a RUN domain from DENND5/Rab6IP1 and sorting nexin 1. | 5 |
| 22558185 | 2012 | Mapping the interactions between a RUN domain from DENND5/Rab6IP1 and sorting nexin 1. | 5 |
| 19141279 | 2009 | Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain. | 51 |
| 19141279 | 2009 | Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain. | 51 |
Citation
Dessen P
DENND5A (DENN domain containing 5A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62433/dennd5a-(denn-domain-containing-5a)
