RHBDF1 (rhomboid 5 homolog 1)

2008-09-01  

Identity

HGNC
RHBDF1
LOCATION
16p13.3
LOCUSID
64285
ALIAS
C16orf8,Dist1,EGFR-RS,gene-89,gene-90,hDist1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64285
MIM: 614403
HGNC: 20561
Ensembl: ENSG00000007384

Variants:

dbSNP: 64285
ClinVar: 64285
TCGA: ENSG00000007384
COSMIC: RHBDF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007384ENST00000262316Q96CC6
ENSG00000007384ENST00000417043F8WCF7
ENSG00000007384ENST00000419764B8ZZ07
ENSG00000007384ENST00000428730F8WBS4
ENSG00000007384ENST00000448893H0Y6L9
ENSG00000007384ENST00000450643A0A1B0GXG1

Expression (GTEx)

0
50
100
150
200
250
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

References

Pubmed IDYearTitleCitations
379796632023RHBDF1 deficiency suppresses melanoma glycolysis and enhances efficacy of immunotherapy by facilitating glucose-6-phosphate isomerase degradation via TRIM32.0
379796632023RHBDF1 deficiency suppresses melanoma glycolysis and enhances efficacy of immunotherapy by facilitating glucose-6-phosphate isomerase degradation via TRIM32.0
355859772022Attenuation of Excess TNF-α Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-β Mediated Immunosuppression Through Modulation of TACE Trafficking.3
355950962022Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation.2
355859772022Attenuation of Excess TNF-α Release in Crohn's Disease by Silencing of iRHOMs 1/2 and the Restoration of TGF-β Mediated Immunosuppression Through Modulation of TACE Trafficking.3
355950962022Alternative splicing of the human rhomboid family-1 gene RHBDF1 inhibits epidermal growth factor receptor activation.2
342760482021RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition in tumor fibrotic stroma formation.4
342760482021RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition in tumor fibrotic stroma formation.4
316611392020Association of iRhom1 and iRhom2 expression with prognosis in patients with cervical cancer and possible signaling pathways.13
316611392020Association of iRhom1 and iRhom2 expression with prognosis in patients with cervical cancer and possible signaling pathways.13
296547412018RHBDF1 regulates APC-mediated stimulation of the epithelial-to-mesenchymal transition and proliferation of colorectal cancer cells in part via the Wnt/β-catenin signalling pathway.11
297272092018Perturbation of epithelial apicobasal polarity by rhomboid family-1 gene overexpression.6
302791412018Human rhomboid family-1 modulates clathrin coated vesicle-dependent pro-transforming growth factor α membrane trafficking to promote breast cancer progression.8
296547412018RHBDF1 regulates APC-mediated stimulation of the epithelial-to-mesenchymal transition and proliferation of colorectal cancer cells in part via the Wnt/β-catenin signalling pathway.11
297272092018Perturbation of epithelial apicobasal polarity by rhomboid family-1 gene overexpression.6

Citation

Dessen P

RHBDF1 (rhomboid 5 homolog 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50317/img/case-report-explorer/gene-fusions-explorer/