RHBDF1 - rhomboid 5 homolog 1 Gene

Homo sapiens

Also known as Dist1; hDist1; C16orf8; EGFR-RS; gene-89; gene-90

Gene ID: 64285 | Gene type: protein coding

About RHBDF1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:58,059-76,360 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 12.8), prostate (RPKM 9.9) and 24 other tissues.

Summary

Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

RHBDF1 Products(1)

mRNA	Protein	Name
NM_022450.5	NP_071895.3	inactive rhomboid protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29897333	GOA
NOT enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	21439629	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell migration	IMP IMP: Inferred from mutant phenotype	18832597	GOA
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	18832597	GOA
involved in negative regulation of protein secretion	IDA IDA: Inferred from direct assay	21439629	GOA
involved in regulation of epidermal growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18832597	GOA
involved in regulation of proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	21439629	GOA
involved in regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	18832597	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi membrane	IDA IDA: Inferred from direct assay	18832597	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	18832597	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RHBDF1 Protein Structure

Rhomboid_SP

Rhomboid

0
200
400
600
800
855 a.a.

Protein Preferred Names

Protein Names

inactive rhomboid protein 1

epidermal growth factor receptor, related sequence

RHBDF1 Protein-protein interaction Information

Type Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RHBDF1	Q96CC6	LHX3	Homo sapiens	Q9UBR4-2	Y2H Prey Pooling	32296183
Intra	RHBDF1	Q96CC6	LHX3	Homo sapiens	Q9UBR4-2	Validated Y2H	32296183
Intra	RHBDF1	Q96CC6	LHX3	Homo sapiens	Q9UBR4-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Tylosis With Esophageal Cancer

Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	TOC
Keratosis Palmaris Et Plantaris With Esophageal Cancer	Bennion-Patterson Syndrome
Howell-Evans Syndrome	Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome	Tylosis-Oesophageal Carcinoma Syndrome
Palmoplantar Keratoderma With Esophageal Cancer	Howel-Evans Syndrome
Keratosis Palmoplantaris With Esophageal Cancer	Tylosis - Oesophageal Carcinoma
Howel-Evans' Syndrome

Colon Small Cell Carcinoma

Colonic Small Cell Carcinoma

Colon Small Cell Neuroendocrine Carcinoma

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS11934	RHBDF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RHBDF1	VGNC	VGNC:45546
Macaca mulatta	RHBDF1	VGNC	VGNC:99583
Felis catus	RHBDF1	VGNC	VGNC:82357
Rattus norvegicus	RHBDF1	RGD	RGD:1305075
Bos taurus	RHBDF1	VGNC	VGNC:33933
Mus musculus	RHBDF1	MGD	MGI:104328

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