• Gene id: 64285

Gene Summary

• Gene Symbol: RHBDF1   Gene   UCSC   Ensembl
• Aliases: C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1
• Gene name: rhomboid 5 homolog 1
• Alternate names: inactive rhomboid protein 1, epidermal growth factor receptor, related sequence, epidermal growth factor receptor-related protein, iRhom1, p100hRho, rhomboid family 1, rhomboid family member 1,
• Gene location: 16p13.3 (71578023: 71613582)     Exons: 16     NC_000023.11
• OMIM: 614403

Protein Summary

• Protein general information: Q96CC6  
  • Name: Inactive rhomboid protein 1 (iRhom1) (Epidermal growth factor receptor related protein) (Rhomboid 5 homolog 1) (Rhomboid family member 1) (p100hRho)
  • Length: 855  
  • Mass: 97401
  • Tissue specificity: Highly expressed in cerebellum, cerebrum, heart, skeletal muscle, placenta, pancreatic islet and testis. Detected at lower levels in colon, kidney, small intestine and lung. {ECO
• Sequence:

  MSEARRDSTSSLQRKKPPWLKLDIPSAVPLTAEEPSFLQPLRRQAFLRSVSMPAETAHISSPHHELRRPVLQRQT
  SITQTIRRGTADWFGVSKDSDSTQKWQRKSIRHCSQRYGKLKPQVLRELDLPSQDNVSLTSTETPPPLYVGPCQL
  GMQKIIDPLARGRAFRVADDTAEGLSAPHTPVTPGAASLCSFSSSRSGFHRLPRRRKRESVAKMSFRAAAALMKG
  RSVRDGTFRRAQRRSFTPASFLEEDTTDFPDELDTSFFAREGILHEELSTYPDEVFESPSEAALKDWEKAPEQAD
  LTGGALDRSELERSHLMLPLERGWRKQKEGAAAPQPKVRLRQEVVSTAGPRRGQRIAVPVRKLFAREKRPYGLGM
  VGRLTNRTYRKRIDSFVKRQIEDMDDHRPFFTYWLTFVHSLVTILAVCIYGIAPVGFSQHETVDSVLRNRGVYEN
  VKYVQQENFWIGPSSEALIHLGAKFSPCMRQDPQVHSFIRSAREREKHSACCVRNDRSGCVQTSEEECSSTLAVW
  VKWPIHPSAPELAGHKRQFGSVCHQDPRVCDEPSSEDPHEWPEDITKWPICTKNSAGNHTNHPHMDCVITGRPCC
  IGTKGRCEITSREYCDFMRGYFHEEATLCSQVHCMDDVCGLLPFLNPEVPDQFYRLWLSLFLHAGILHCLVSICF
  QMTVLRDLEKLAGWHRIAIIYLLSGVTGNLASAIFLPYRAEVGPAGSQFGILACLFVELFQSWQILARPWRAFFK
  LLAVVLFLFTFGLLPWIDNFAHISGFISGLFLSFAFLPYISFGKFDLYRKRCQIIIFQVVFLGLLAGLVVLFYVY
  PVRCEWCEFLTCIPFTDKFCEKYELDAQLH

• Structural information:
  • Interpro: IPR022764  IPR035952  IPR022241  
  • STRING: ENSP00000262316
• Other Databases: GeneCards:  RHBDF1  Malacards:  RHBDF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050708	regulation of protein secretion	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IBA	NOT|molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	NOT|molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0061136	regulation of proteasomal protein catabolic process	IDA	biological process
GO:0050709	negative regulation of protein secretion	IDA	biological process
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050708	regulation of protein secretion	IMP	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0019838	growth factor binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R