• Gene id: 84236

Gene Summary

• Gene Symbol: RHBDD1   Gene   UCSC   Ensembl
• Aliases: RHBDL4, RRP4
• Gene name: rhomboid domain containing 1
• Alternate names: rhomboid-related protein 4, rhomboid domain-containing protein 1, rhomboid-like protein 4,
• Gene location: 2q36.3 (226800158: 226999209)     Exons: 15     NC_000002.12
• OMIM: 617515

Protein Summary

• Protein general information: Q8TEB9  
  • Name: Rhomboid related protein 4 (RRP4) (EC 3.4.21.105) (Rhomboid domain containing protein 1) (Rhomboid like protein 4)
  • Length: 315  
  • Mass: 35823
  • Tissue specificity: Expressed strongly in testis.
• Sequence:

  MQRRSRGINTGLILLLSQIFHVGINNIPPVTLATLALNIWFFLNPQKPLYSSCLSVEKCYQQKDWQRLLLSPLHH
  ADDWHLYFNMASMLWKGINLERRLGSRWFAYVITAFSVLTGVVYLLLQFAVAEFMDEPDFKRSCAVGFSGVLFAL
  KVLNNHYCPGGFVNILGFPVPNRFACWVELVAIHLFSPGTSFAGHLAGILVGLMYTQGPLKKIMEACAGGFSSSV
  GYPGRQYYFNSSGSSGYQDYYPHGRPDHYEEAPRNYDTYTAGLSEEEQLERALQASLWDRGNTRNSPPPYGFHLS
  PEEMRRQRLHRFDSQ

• Structural information:
  • Interpro: IPR022764  IPR035952  
  • PDB: 5EPP
  • PDBsum: 5EPP
  • STRING: ENSP00000375914
• Other Databases: GeneCards:  RHBDD1  Malacards:  RHBDD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:1904211	membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	ISS	biological process
GO:0034620	cellular response to unfolded protein	IEP	biological process
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0034620	cellular response to unfolded protein	IBA	biological process
GO:0004175	endopeptidase activity	IBA	molecular function
GO:0043687	post-translational protein modification	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component
GO:0010954	positive regulation of protein processing	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:2000254	regulation of male germ cell proliferation	ISS	NOT|biological process
GO:0048515	spermatid differentiation	ISS	biological process
GO:0044322	endoplasmic reticulum quality control compartment	ISS	cellular component
GO:0034644	cellular response to UV	ISS	biological process
GO:0034620	cellular response to unfolded protein	ISS	biological process
GO:0031293	membrane protein intracellular domain proteolysis	ISS	biological process
GO:0036503	ERAD pathway	ISS	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0010954	positive regulation of protein processing	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043687	post-translational protein modification	IEA	biological process
GO:1904211	membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IEA	biological process
GO:0031293	membrane protein intracellular domain proteolysis	IEA	biological process
GO:0034620	cellular response to unfolded protein	IEA	biological process
GO:0034644	cellular response to UV	IEA	biological process
GO:0036503	ERAD pathway	IEA	biological process
GO:0044322	endoplasmic reticulum quality control compartment	IEA	cellular component
GO:0048515	spermatid differentiation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray