Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64285
Gene name	Rhomboid 5 homolog 1
Gene symbol	RHBDF1
Synonyms (NCBI Gene)	C16orf8Dist1EGFR-RSgene-89gene-90hDist1
Chromosome	16
Chromosome location	16p13.3

Show/Hide all (24)

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

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	18832597
GO:0000139	Component	Golgi membrane	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	21439629
GO:0005515	Function	Protein binding	IPI	29897333, 29897336, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	18832597, 21439629
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008283	Process	Cell population proliferation	IMP	18832597
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	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
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IMP	18832597
GO:0050708	Process	Regulation of protein secretion	IBA
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

MIM	HGNC	e!Ensembl
614403	20561	ENSG00000007384

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

Tissue specificity

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:0000269|PubMed:15965977, ECO:0000269|PubMed:8318735}.

Sequence

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

Sequence length

855

Interactions

View interactions

	KEGG
	TNF signaling pathway

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Wolff-Parkinson-White pattern	Uncertain significance	rs201706583, rs760441920, rs757169652, rs999812302, rs376110986	RCV000656185 RCV000656142 RCV000656178 RCV000656193 RCV000656177

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Basal Cell Nevus Syndrome	Associate	29081410
Breast Neoplasms	Associate	30279141, 35595096
Fibrosarcoma	Associate	26535007
Glioma	Associate	36541697
Head and Neck Neoplasms	Associate	18832597, 32236893
Neoplasms	Associate	18832597
Neoplasms	Stimulate	35595096
Neoplasms Glandular and Epithelial	Associate	35595096
Squamous Cell Carcinoma of Head and Neck	Associate	18832597
Stomach Neoplasms	Associate	15647181
Uterine Cervical Neoplasms	Associate	31661139

RHBDF1 (rhomboid 5 homolog 1)