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	9886
Gene name	Rho related BTB domain containing 1
Gene symbol	RHOBTB1
Synonyms (NCBI Gene)	-
Chromosome	10
Chromosome location	10q21.2
Summary	The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The p

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018495	hsa-miR-335-5p	Microarray	18185580
MIRT050128	hsa-miR-26a-5p	CLASH	23622248
MIRT437512	hsa-miR-31-5p	Luciferase reporter assay	23258531
MIRT437512	hsa-miR-31-5p	Luciferase reporter assay	23258531
MIRT1305401	hsa-miR-1244	CLIP-seq
MIRT1305402	hsa-miR-1271	CLIP-seq
MIRT1305403	hsa-miR-1297	CLIP-seq
MIRT1305404	hsa-miR-182	CLIP-seq
MIRT1305405	hsa-miR-1910	CLIP-seq
MIRT1305406	hsa-miR-26a	CLIP-seq
MIRT1305407	hsa-miR-26b	CLIP-seq
MIRT1305408	hsa-miR-31	CLIP-seq
MIRT1305409	hsa-miR-3122	CLIP-seq
MIRT1305410	hsa-miR-3165	CLIP-seq
MIRT1305411	hsa-miR-3185	CLIP-seq
MIRT1305412	hsa-miR-3689a-3p	CLIP-seq
MIRT1305413	hsa-miR-3689c	CLIP-seq
MIRT1305414	hsa-miR-383	CLIP-seq
MIRT1305415	hsa-miR-3913-5p	CLIP-seq
MIRT1305416	hsa-miR-4276	CLIP-seq
MIRT1305417	hsa-miR-4325	CLIP-seq
MIRT1305418	hsa-miR-4465	CLIP-seq
MIRT1305419	hsa-miR-4473	CLIP-seq
MIRT1305420	hsa-miR-4528	CLIP-seq
MIRT1305421	hsa-miR-455-3p	CLIP-seq
MIRT1305422	hsa-miR-4652-3p	CLIP-seq
MIRT1305423	hsa-miR-4697-3p	CLIP-seq
MIRT1305424	hsa-miR-4729	CLIP-seq
MIRT1305425	hsa-miR-4789-5p	CLIP-seq
MIRT1305426	hsa-miR-4796-3p	CLIP-seq
MIRT1305427	hsa-miR-507	CLIP-seq
MIRT1305428	hsa-miR-509-3p	CLIP-seq
MIRT1305429	hsa-miR-512-3p	CLIP-seq
MIRT1305430	hsa-miR-520f	CLIP-seq
MIRT1305431	hsa-miR-548t	CLIP-seq
MIRT1305432	hsa-miR-557	CLIP-seq
MIRT1305433	hsa-miR-579	CLIP-seq
MIRT1305434	hsa-miR-590-3p	CLIP-seq
MIRT1305435	hsa-miR-885-5p	CLIP-seq
MIRT1305436	hsa-miR-96	CLIP-seq
MIRT1305410	hsa-miR-3165	CLIP-seq
MIRT1305414	hsa-miR-383	CLIP-seq
MIRT1305426	hsa-miR-4796-3p	CLIP-seq
MIRT1305430	hsa-miR-520f	CLIP-seq
MIRT1305431	hsa-miR-548t	CLIP-seq
MIRT2090367	hsa-miR-204	CLIP-seq
MIRT2090368	hsa-miR-211	CLIP-seq
MIRT2090369	hsa-miR-4419a	CLIP-seq
MIRT2090370	hsa-miR-4510	CLIP-seq
MIRT2090371	hsa-miR-4693-3p	CLIP-seq
MIRT2315228	hsa-miR-1226	CLIP-seq
MIRT2315229	hsa-miR-1261	CLIP-seq
MIRT2315230	hsa-miR-146b-3p	CLIP-seq
MIRT2315231	hsa-miR-155	CLIP-seq
MIRT2315232	hsa-miR-299-3p	CLIP-seq
MIRT2315233	hsa-miR-3123	CLIP-seq
MIRT2315234	hsa-miR-3157-3p	CLIP-seq
MIRT2315235	hsa-miR-3173-5p	CLIP-seq
MIRT2315236	hsa-miR-3174	CLIP-seq
MIRT2315237	hsa-miR-3646	CLIP-seq
MIRT2315238	hsa-miR-3682-5p	CLIP-seq
MIRT2315239	hsa-miR-4265	CLIP-seq
MIRT2315240	hsa-miR-4296	CLIP-seq
MIRT2315241	hsa-miR-4308	CLIP-seq
MIRT2315242	hsa-miR-4310	CLIP-seq
MIRT2315243	hsa-miR-4311	CLIP-seq
MIRT2315244	hsa-miR-4322	CLIP-seq
MIRT2315245	hsa-miR-4417	CLIP-seq
MIRT2315246	hsa-miR-4484	CLIP-seq
MIRT2315247	hsa-miR-4704-5p	CLIP-seq
MIRT2315248	hsa-miR-4731-5p	CLIP-seq
MIRT2315249	hsa-miR-4738-5p	CLIP-seq
MIRT2315250	hsa-miR-4753-5p	CLIP-seq
MIRT2315251	hsa-miR-513a-5p	CLIP-seq
MIRT2315252	hsa-miR-548an	CLIP-seq
MIRT2315253	hsa-miR-570	CLIP-seq
MIRT2315254	hsa-miR-630	CLIP-seq
MIRT2315255	hsa-miR-874	CLIP-seq
MIRT2315251	hsa-miR-513a-5p	CLIP-seq
MIRT2432723	hsa-miR-141	CLIP-seq
MIRT2432724	hsa-miR-200a	CLIP-seq
MIRT2432725	hsa-miR-384	CLIP-seq
MIRT2315253	hsa-miR-570	CLIP-seq
MIRT2611526	hsa-miR-1207-5p	CLIP-seq
MIRT2611527	hsa-miR-203	CLIP-seq
MIRT2611528	hsa-miR-297	CLIP-seq
MIRT2611529	hsa-miR-3064-3p	CLIP-seq
MIRT2611530	hsa-miR-3143	CLIP-seq
MIRT2611531	hsa-miR-331-3p	CLIP-seq
MIRT2611532	hsa-miR-3665	CLIP-seq
MIRT2611533	hsa-miR-370	CLIP-seq
MIRT2432725	hsa-miR-384	CLIP-seq
MIRT2611534	hsa-miR-3911	CLIP-seq
MIRT2611535	hsa-miR-3934	CLIP-seq
MIRT2611536	hsa-miR-4633-3p	CLIP-seq
MIRT2611537	hsa-miR-4736	CLIP-seq
MIRT2611538	hsa-miR-4763-3p	CLIP-seq
MIRT2611539	hsa-miR-567	CLIP-seq
MIRT2611540	hsa-miR-626	CLIP-seq
MIRT2611541	hsa-miR-663b	CLIP-seq
MIRT2689748	hsa-miR-548c-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0019901	Function	Protein kinase binding	IBA
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042995	Component	Cell projection	IBA

MIM	HGNC	e!Ensembl
607351	18738	ENSG00000072422

O94844

Protein name

Rho-related BTB domain-containing protein 1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	16 → 209	Ras family	Domain
PF00651	BTB	384 → 457	BTB/POZ domain	Domain
PF00651	BTB	475 → 583	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous, with highest levels in skeletal muscle, placenta, testis, stomach, and kidney, followed by uterus and adrenal gland. Expressed in a variety of fetal tissues. {ECO:0000269|PubMed:12426103}.

Sequence

MDADMDYERPNVETIKCVVVGDNAVGKTRLICARACNTTLTQYQLLATHVPTVWAIDQYR
VCQEVLERSRDVVDEVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLNHVKS
MWYPEIKHFCPRTPVILVGCQLDLRYADLEAVNRARRPLARPIKRGDILPPEKGREVAKE
LGLPYYETSVFDQFGIKDVFDNAIRAALISRRHLQFWKSHLKKVQKPLLQAPFLPPKAPP
PVIKIPECPSMGTNEAACLLDNPLCADVLFILQDQEHIFAHRIYLATSSSKFYDLFLMEC
EESPNGSEGACEKEKQSRDFQGRILSVDPEEEREEGPPRIPQADQWKSSNKSLVEALGLE
AEGAVPETQTLTGWSKGFIGMHREMQVNPISKRMGPMTVVRMDASVQPGPFRTLLQFLYT
GQLDEKEKDLVGLAQIAEVLEMFDLRMMVENIMNKEAFMNQEITKAFHVRKANRIKECLS
KGTFSDVTFKLDDGAISAHKPLLICSCEWMAAMFGGSFVESANSEVYLPNINKISMQAVL
DYLYTKQLSPNLDLDPLELIALANRFCLPHLVALAEQHAVQELTKAATSGVGIDGEVLSY
LELAQFHNAHQLAAWCLHHICTNYNSVCSKFRKEIKSKSADNQEYFERHRWPPVWYLKEE
DHYQRVKREREKEDIALNKHRSRRKWCFWNSSPAVA

Sequence length

696

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Rho GTPase cycle

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	28219369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28219369, 35698915	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23258531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36185995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	28736931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	16170569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30896450, 31789920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	16170569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28219369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31431478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23258531, 31431478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23258531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26004609	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16170569, 18298893, 23258531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31431478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16170569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28454216		★★★★★ ★☆☆☆☆ Found in Text Mining only

RHOBTB1 (Rho related BTB domain containing 1)