DENND5A (DENN domain containing 5A)

2014-11-01  

Identity

HGNC
DENND5A
LOCATION
11p15.4
LOCUSID
23258
ALIAS
DEE49,EIEE49,RAB6IP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23258
MIM: 617278
HGNC: 19344
Ensembl: ENSG00000184014

Variants:

dbSNP: 23258
ClinVar: 23258
TCGA: ENSG00000184014
COSMIC: DENND5A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184014ENST00000328194Q6IQ26
ENSG00000184014ENST00000524446H0YCW5
ENSG00000184014ENST00000525784H0YDE6
ENSG00000184014ENST00000526707B4DFB6
ENSG00000184014ENST00000527896H0YDV6
ENSG00000184014ENST00000528725H0YDS8
ENSG00000184014ENST00000530044Q6IQ26
ENSG00000184014ENST00000530780E9PIS3
ENSG00000184014ENST00000531747H0YE63
ENSG00000184014ENST00000533737H0YEA8

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
349065082022Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.1
349065082022Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma.1
278667052016Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.15
278667052016Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.15
225581852012Mapping the interactions between a RUN domain from DENND5/Rab6IP1 and sorting nexin 1.5
225581852012Mapping the interactions between a RUN domain from DENND5/Rab6IP1 and sorting nexin 1.5
191412792009Structural basis for recruitment of Rab6-interacting protein 1 to Golgi via a RUN domain.51
191412792009Structural 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)