RHBDF1 - rhomboid 5 homolog 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64285

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 References 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 References 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 References 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_SP: Rhomboid serine protease (91 - 308)

Rhomboid

Rhomboid: Rhomboid family (650 - 788)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11934 RHBDF1 Human Pre-designed siRNA Set A Pre-designed Set / 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