RHBDD1 - rhomboid domain containing 1 Gene

Also Known as RRP4; RHBDL4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84236

About RHBDD1

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:226,800,159-226,999,210 (from NCBI)

This gene has 15 transcripts (splice variants), 216 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.6) and 25 other tissues.

Summary

Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

RHBDD1 Products (5)

mRNA Protein Name
NM_001167608.3 NP_001161080.1 rhomboid-related protein 4
NM_001349069.2 NP_001335998.1 rhomboid-related protein 4
NM_001349071.2 NP_001336000.1 rhomboid-related protein 4
NM_001349072.2 NP_001336001.1 rhomboid-related protein 4
NM_032276.5 NP_115652.2 rhomboid-related protein 4

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables endopeptidase activity IDA
IDA: Inferred from direct assay
22624035 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18953687 GOA
enables serine-type endopeptidase activity IDA
IDA: Inferred from direct assay
18953687 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to unfolded protein IEP
IEP: Inferred from expression pattern
22795130 GOA
involved in membrane protein proteolysis IDA
IDA: Inferred from direct assay
18953687 GOA
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
18953687 GOA
involved in negative regulation of apoptotic process IMP
IMP: Inferred from mutant phenotype
22624035 GOA
involved in positive regulation of protein catabolic process IDA
IDA: Inferred from direct assay
18953687 GOA
involved in positive regulation of protein catabolic process IMP
IMP: Inferred from mutant phenotype
22624035 GOA
involved in positive regulation of secretion IMP
IMP: Inferred from mutant phenotype
22624035 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
22795130 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

RHBDD1 Protein Structure

Rhomboid

Rhomboid: Rhomboid family (61 - 206)

  • 0
  • 100
  • 200
  • 300
  • 315 a.a.
Protein Preferred Names Protein Names

rhomboid-related protein 4

  • rhomboid domain-containing protein 1

RHBDD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RHBDD1 Q8TEB9 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra
RHBDD1 Q8TEB9 CGRRF1 Homo sapiens Q99675
Validated Y2H
32296183
Intra
RHBDD1 Q8TEB9 RNF5 Homo sapiens Q99942
Validated Y2H
32296183
Intra
RHBDD1 Q8TEB9 RNF5 Homo sapiens Q99942
Y2H Array
32296183
Intra
RHBDD1 Q8TEB9 RNF5 Homo sapiens Q99942
Y2H Prey Pooling
32296183
Intra
RHBDD1 Q8TEB9 PLEKHB2 Homo sapiens Q96CS7
Validated Y2H
32296183
Intra
RHBDD1 Q8TEB9 PLEKHB2 Homo sapiens Q96CS7
Y2H Array
32296183
Intra
RHBDD1 Q8TEB9 PLEKHB2 Homo sapiens Q96CS7
Y2H Prey Pooling
32296183
Intra
RHBDD1 Q8TEB9 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
Intra
RHBDD1 Q8TEB9 CREB3L1 Homo sapiens Q96BA8
Validated Y2H
32296183
Intra
RHBDD1 Q8TEB9 CREB3L1 Homo sapiens Q96BA8
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Benign Mammary Dysplasia
Facial Clefting, Oblique, 1

  • Oculomaxillofacial Dysostosis

  • Oculomaxillofacial Dysplasia With Oblique Facial Clefts

  • OBLFC1

  • Oblique Facial Clefting 1

  • Tessier Number 4 Facial Cleft

  • Oblique Facial Cleft

  • Orbitofacial Cleft

  • Oblique Facial Clefts

  • Richieri Costa Gorlin Syndrome

  • Richieri-Costa-Gorlin Syndrome

  • Facial Clefting, Oblique, Type 1
Teebi Hypertelorism Syndrome 1

  • Teebi Hypertelorism Syndrome

  • Brachycephalofrontonasal Dysplasia

  • Hypertelorism, Teebi Type

  • TBHS1

  • Tbhs

  • Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype

  • Opitz Gbbb Syndrome Type Ii

  • Specc1l-Related Hypertelorism Syndrome

  • Opitz Gbbb Syndrome, Type Ii, Formerly

  • Gbbb2, Formerly

  • Opitz Bbbg Syndrome, Type Ii, Formerly

  • Bbbg2, Formerly

  • Opitz-G Syndrome, Type Ii, Formerly

  • Ogs2, Formerly

  • Opitz Bbb Syndrome, Type Ii, Formerly

  • Hypertelorism-Hypospadias Syndrome, Formerly

  • Hypertelorism With Esophageal Abnormality And Hypospadias, Formerly

  • Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly

  • Opitz-Frias Syndrome, Formerly

  • Teebi Hypertelorism Syndrome-1

  • Craniofrontonasal Dysplasia, Teebi Type

  • Bbb Syndrome

  • Gbbb Syndrome

  • G Syndrome

  • Hypertelorism-Hypospadias Syndrome

  • Hypertelorism With Esophageal Abnormality And Hypospadias

  • Hypospadias-Dysphagia Syndrome

  • Ogs2

  • Opitz Bbbg Syndrome

  • Opitz-Frias Syndrome

  • Opitz Gbbb Syndrome, Autosomal Dominant

  • Opitz-G Syndrome, Type Ii

  • Opitz Oculogenitolaryngeal Syndrome, Type Ii

  • Opitz Gbbb Syndrome, Type Ii

  • Teebi Syndrome

  • Opitz-G Syndrome, Type 2

  • Opitz Gbbb Syndrome, X-Linked

  • Digeorge Syndrome
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-RS11931 RHBDD1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus RHBDD1 VGNC VGNC:64602
Mus musculus RHBDD1 MGD MGI:1924117
Macaca mulatta RHBDD1 VGNC VGNC:76803
Bos taurus RHBDD1 VGNC VGNC:33930
Rattus norvegicus RHBDD1 RGD RGD:1306477
Canis familiaris RHBDD1 VGNC VGNC:45543
Others RHBDD1 NCBI