RHBDF1 (rhomboid 5 homolog 1)

Gene

• Entrez ID: 64285
• Gene name: Rhomboid 5 homolog 1
• Gene symbol: RHBDF1
• Synonyms (NCBI Gene): 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: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

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

• 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

Pathways

KEGG:

TNF signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	12730874		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29654741		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	29081410	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12810676, 18524845, 24648344, 29727209, 30279141, 31828433		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30279141, 35595096	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	28346443		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31661139		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31661139		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12730874		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12730874, 29654741		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	26535007		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	GWASCAT_DG	28346443		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	GWASCAT_DG	28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASCAT_DG	28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	36541697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	18524845		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	18832597, 32236893	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	1655580		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	18524845		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15205570		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	18524845		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12810676, 18524845, 24648344, 29727209, 30279141, 31828433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16885366		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15647181		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15647181, 18832597, 30279141		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	18524845		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31661139		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12730874		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12730874, 15327841, 18524845, 18832597, 29727209, 31661139		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16885366		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18524845		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18832597	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15647181		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15647181	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31661139	Associate	★☆☆☆☆ Found in Text Mining only