RHBDF1 (rhomboid 5 homolog 1)

Gene

• Entrez ID: 64285
• Gene name: Rhomboid 5 homolog 1
• Gene symbol: RHBDF1
• Synonyms: C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1
• Chromosome: 16
• Chromosome location: 16p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022709	hsa-miR-124-3p	Microarray	18668037
MIRT1304792	hsa-miR-3154	CLIP-seq
MIRT1304793	hsa-miR-3187-3p	CLIP-seq
MIRT1304794	hsa-miR-323-5p	CLIP-seq
MIRT1304795	hsa-miR-4435	CLIP-seq
MIRT1304796	hsa-miR-455-3p	CLIP-seq
MIRT1304797	hsa-miR-4701-5p	CLIP-seq
MIRT1304798	hsa-miR-4729	CLIP-seq
MIRT1304799	hsa-miR-548s	CLIP-seq
MIRT1304800	hsa-miR-588	CLIP-seq
MIRT2090273	hsa-miR-124	CLIP-seq
MIRT2090274	hsa-miR-421	CLIP-seq
MIRT2090275	hsa-miR-4709-5p	CLIP-seq
MIRT2090276	hsa-miR-506	CLIP-seq
MIRT2090273	hsa-miR-124	CLIP-seq
MIRT2315090	hsa-miR-125a-3p	CLIP-seq
MIRT2315091	hsa-miR-3665	CLIP-seq
MIRT2090274	hsa-miR-421	CLIP-seq
MIRT2315092	hsa-miR-425	CLIP-seq
MIRT2315093	hsa-miR-4286	CLIP-seq
MIRT2090275	hsa-miR-4709-5p	CLIP-seq
MIRT2315094	hsa-miR-4717-3p	CLIP-seq
MIRT2315095	hsa-miR-4802-3p	CLIP-seq
MIRT2090276	hsa-miR-506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	18832597
GO:0004252	Function	Serine-type endopeptidase activity	IBA	21873635
GO:0004252	Function	Serine-type endopeptidase activity	IDA	21439629
GO:0005515	Function	Protein binding	IPI	29897333, 29897336, 32296183
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	18832597, 21439629
GO:0006508	Process	Proteolysis	IEA
GO:0008283	Process	Cell population proliferation	IMP	18832597
GO:0015031	Process	Protein transport	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0016477	Process	Cell migration	IMP	18832597
GO:0019838	Function	Growth factor binding	IEA
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IBA	21873635
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IMP	18832597
GO:0050708	Process	Regulation of protein secretion	IBA	21873635
GO:0050708	Process	Regulation of protein secretion	IMP	18832597
GO:0050709	Process	Negative regulation of protein secretion	IDA	21439629
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IDA	21439629

Other IDs

• MIM: 614403
• HGNC: 20561
• e!Ensembl: ENSG00000007384

Protein

• UniProt ID: Q96CC6
• Protein name: Inactive rhomboid protein 1 (iRhom1) (Epidermal growth factor receptor-related protein) (Rhomboid 5 homolog 1) (Rhomboid family member 1) (p100hRho)
• Protein function: Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. {ECO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12595	Rhomboid_SP	91 → 308	Rhomboid serine protease	Family
  PF01694	Rhomboid	647 → 791	Rhomboid family	Family

• Sequence:

  MSEARRDSTSSLQRKKPPWLKLDIPSAVPLTAEEPSFLQPLRRQAFLRSVSMPAETAHIS
  SPHHELRRPVLQRQTSITQTIRRGTADWFGVSKDSDSTQKWQRKSIRHCSQRYGKLKPQV
  LRELDLPSQDNVSLTSTETPPPLYVGPCQLGMQKIIDPLARGRAFRVADDTAEGLSAPHT
  PVTPGAASLCSFSSSRSGFHRLPRRRKRESVAKMSFRAAAALMKGRSVRDGTFRRAQRRS
  FTPASFLEEDTTDFPDELDTSFFAREGILHEELSTYPDEVFESPSEAALKDWEKAPEQAD
  LTGGALDRSELERSHLMLPLERGWRKQKEGAAAPQPKVRLRQEVVSTAGPRRGQRIAVPV
  RKLFAREKRPYGLGMVGRLTNRTYRKRIDSFVKRQIEDMDDHRPFFTYWLTFVHSLVTIL
  AVCIYGIAPVGFSQHETVDSVLRNRGVYENVKYVQQENFWIGPSSEALIHLGAKFSPCMR
  QDPQVHSFIRSAREREKHSACCVRNDRSGCVQTSEEECSSTLAVWVKWPIHPSAPELAGH
  KRQFGSVCHQDPRVCDEPSSEDPHEWPEDITKWPICTKNSAGNHTNHPHMDCVITGRPCC
  IGTKGRCEITSREYCDFMRGYFHEEATLCSQVHCMDDVCGLLPFLNPEVPDQFYRLWLSL
  FLHAGILHCLVSICFQMTVLRDLEKLAGWHRIAIIYLLSGVTGNLASAIFLPYRAEVGPA
  GSQFGILACLFVELFQSWQILARPWRAFFKLLAVVLFLFTFGLLPWIDNFAHISGFISGL
  FLSFAFLPYISFGKFDLYRKRCQIIIFQVVFLGLLAGLVVLFYVYPVRCEWCEFLTCIPF
  TDKFCEKYELDAQLH

• Sequence length: 855

Pathways

KEGG:

TNF signaling pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	28346443
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	28346443

Unknown
Disease name	Disease term	dbSNP ID	References
Central nervous system neoplasms	Central Nervous System Neoplasms		28346443