RHBDL3 (rhomboid like 3)

Gene

• Entrez ID: 162494
• Gene name: Rhomboid like 3
• Gene symbol: RHBDL3
• Synonyms (NCBI Gene): RHBDL4, VRHO
• Chromosome: 17
• Chromosome location: 17q11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039850	hsa-miR-615-3p	CLASH	23622248
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT629936	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT629936	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT614510	hsa-miR-8485	HITS-CLIP	23824327
MIRT614509	hsa-miR-521	HITS-CLIP	23824327
MIRT1304854	hsa-miR-1184	CLIP-seq
MIRT1304855	hsa-miR-1208	CLIP-seq
MIRT1304856	hsa-miR-1237	CLIP-seq
MIRT1304857	hsa-miR-1248	CLIP-seq
MIRT1304858	hsa-miR-1272	CLIP-seq
MIRT1304859	hsa-miR-127-5p	CLIP-seq
MIRT1304860	hsa-miR-1281	CLIP-seq
MIRT1304861	hsa-miR-1343	CLIP-seq
MIRT1304862	hsa-miR-1827	CLIP-seq
MIRT1304863	hsa-miR-193a-5p	CLIP-seq
MIRT1304864	hsa-miR-2052	CLIP-seq
MIRT1304865	hsa-miR-2110	CLIP-seq
MIRT1304866	hsa-miR-2392	CLIP-seq
MIRT1304867	hsa-miR-2467-3p	CLIP-seq
MIRT1304868	hsa-miR-302a	CLIP-seq
MIRT1304869	hsa-miR-302b	CLIP-seq
MIRT1304870	hsa-miR-302c	CLIP-seq
MIRT1304871	hsa-miR-302d	CLIP-seq
MIRT1304872	hsa-miR-302e	CLIP-seq
MIRT1304873	hsa-miR-3064-3p	CLIP-seq
MIRT1304874	hsa-miR-3120-5p	CLIP-seq
MIRT1304875	hsa-miR-3135b	CLIP-seq
MIRT1304876	hsa-miR-3136-3p	CLIP-seq
MIRT1304877	hsa-miR-3150a-3p	CLIP-seq
MIRT1304878	hsa-miR-3175	CLIP-seq
MIRT1304879	hsa-miR-3180-5p	CLIP-seq
MIRT1304880	hsa-miR-3184	CLIP-seq
MIRT1304881	hsa-miR-3187-3p	CLIP-seq
MIRT1304882	hsa-miR-320e	CLIP-seq
MIRT1304883	hsa-miR-3652	CLIP-seq
MIRT1304884	hsa-miR-3661	CLIP-seq
MIRT1304885	hsa-miR-372	CLIP-seq
MIRT1304886	hsa-miR-373	CLIP-seq
MIRT1304887	hsa-miR-3925-5p	CLIP-seq
MIRT1304888	hsa-miR-423-5p	CLIP-seq
MIRT1304889	hsa-miR-4252	CLIP-seq
MIRT1304890	hsa-miR-4271	CLIP-seq
MIRT1304891	hsa-miR-4311	CLIP-seq
MIRT1304892	hsa-miR-4318	CLIP-seq
MIRT1304893	hsa-miR-4420	CLIP-seq
MIRT1304894	hsa-miR-4430	CLIP-seq
MIRT1304895	hsa-miR-4435	CLIP-seq
MIRT1304896	hsa-miR-4514	CLIP-seq
MIRT1304897	hsa-miR-4529-5p	CLIP-seq
MIRT1304898	hsa-miR-4645-5p	CLIP-seq
MIRT1304899	hsa-miR-4667-5p	CLIP-seq
MIRT1304900	hsa-miR-4673	CLIP-seq
MIRT1304901	hsa-miR-4688	CLIP-seq
MIRT1304902	hsa-miR-4690-3p	CLIP-seq
MIRT1304903	hsa-miR-4692	CLIP-seq
MIRT1304904	hsa-miR-4700-5p	CLIP-seq
MIRT1304905	hsa-miR-4701-5p	CLIP-seq
MIRT1304906	hsa-miR-4725-3p	CLIP-seq
MIRT1304907	hsa-miR-4733-3p	CLIP-seq
MIRT1304908	hsa-miR-4747-5p	CLIP-seq
MIRT1304909	hsa-miR-4786-3p	CLIP-seq
MIRT1304910	hsa-miR-4790-3p	CLIP-seq
MIRT1304911	hsa-miR-486-3p	CLIP-seq
MIRT1304912	hsa-miR-512-3p	CLIP-seq
MIRT1304913	hsa-miR-520a-3p	CLIP-seq
MIRT1304914	hsa-miR-520b	CLIP-seq
MIRT1304915	hsa-miR-520c-3p	CLIP-seq
MIRT1304916	hsa-miR-520d-3p	CLIP-seq
MIRT1304917	hsa-miR-520e	CLIP-seq
MIRT1304918	hsa-miR-548s	CLIP-seq
MIRT1304919	hsa-miR-588	CLIP-seq
MIRT1304920	hsa-miR-589	CLIP-seq
MIRT1304921	hsa-miR-616	CLIP-seq
MIRT1304922	hsa-miR-622	CLIP-seq
MIRT1304923	hsa-miR-631	CLIP-seq
MIRT1304924	hsa-miR-661	CLIP-seq
MIRT1304925	hsa-miR-663b	CLIP-seq
MIRT1304926	hsa-miR-671-5p	CLIP-seq
MIRT1304927	hsa-miR-718	CLIP-seq
MIRT1304928	hsa-miR-765	CLIP-seq
MIRT1304929	hsa-miR-939	CLIP-seq
MIRT1304930	hsa-miR-942	CLIP-seq
MIRT1920856	hsa-miR-1538	CLIP-seq
MIRT1920857	hsa-miR-2278	CLIP-seq
MIRT1920858	hsa-miR-4745-3p	CLIP-seq
MIRT1920856	hsa-miR-1538	CLIP-seq
MIRT1920857	hsa-miR-2278	CLIP-seq
MIRT1920858	hsa-miR-4745-3p	CLIP-seq
MIRT1920857	hsa-miR-2278	CLIP-seq
MIRT2090286	hsa-miR-1207-5p	CLIP-seq
MIRT1304862	hsa-miR-1827	CLIP-seq
MIRT1304865	hsa-miR-2110	CLIP-seq
MIRT1920857	hsa-miR-2278	CLIP-seq
MIRT2090287	hsa-miR-296-5p	CLIP-seq
MIRT1304868	hsa-miR-302a	CLIP-seq
MIRT1304869	hsa-miR-302b	CLIP-seq
MIRT1304870	hsa-miR-302c	CLIP-seq
MIRT1304871	hsa-miR-302d	CLIP-seq
MIRT1304872	hsa-miR-302e	CLIP-seq
MIRT2090288	hsa-miR-3183	CLIP-seq
MIRT2090289	hsa-miR-324-5p	CLIP-seq
MIRT1304885	hsa-miR-372	CLIP-seq
MIRT1304886	hsa-miR-373	CLIP-seq
MIRT2090290	hsa-miR-3919	CLIP-seq
MIRT1304887	hsa-miR-3925-5p	CLIP-seq
MIRT2090291	hsa-miR-4297	CLIP-seq
MIRT2090292	hsa-miR-4313	CLIP-seq
MIRT2090293	hsa-miR-4436b-3p	CLIP-seq
MIRT2090294	hsa-miR-4649-3p	CLIP-seq
MIRT2090295	hsa-miR-4691-5p	CLIP-seq
MIRT2090296	hsa-miR-4723-3p	CLIP-seq
MIRT2090297	hsa-miR-4763-3p	CLIP-seq
MIRT1304912	hsa-miR-512-3p	CLIP-seq
MIRT1304913	hsa-miR-520a-3p	CLIP-seq
MIRT1304914	hsa-miR-520b	CLIP-seq
MIRT1304915	hsa-miR-520c-3p	CLIP-seq
MIRT1304916	hsa-miR-520d-3p	CLIP-seq
MIRT1304917	hsa-miR-520e	CLIP-seq
MIRT2090298	hsa-miR-541	CLIP-seq
MIRT2090299	hsa-miR-545	CLIP-seq
MIRT2090300	hsa-miR-654-5p	CLIP-seq
MIRT2315126	hsa-miR-1324	CLIP-seq
MIRT2315127	hsa-miR-140-3p	CLIP-seq
MIRT2315128	hsa-miR-1470	CLIP-seq
MIRT2315129	hsa-miR-1587	CLIP-seq
MIRT2315130	hsa-miR-3140-3p	CLIP-seq
MIRT2315131	hsa-miR-3174	CLIP-seq
MIRT2315132	hsa-miR-3190	CLIP-seq
MIRT2315133	hsa-miR-3202	CLIP-seq
MIRT2315134	hsa-miR-3665	CLIP-seq
MIRT2315135	hsa-miR-3692	CLIP-seq
MIRT2315136	hsa-miR-378g	CLIP-seq
MIRT2315137	hsa-miR-3911	CLIP-seq
MIRT2315138	hsa-miR-3934	CLIP-seq
MIRT2315139	hsa-miR-4291	CLIP-seq
MIRT2315140	hsa-miR-4436b-5p	CLIP-seq
MIRT2315141	hsa-miR-4446-5p	CLIP-seq
MIRT2315142	hsa-miR-4475	CLIP-seq
MIRT2315143	hsa-miR-4492	CLIP-seq
MIRT2315144	hsa-miR-4498	CLIP-seq
MIRT2315145	hsa-miR-4533	CLIP-seq
MIRT2315146	hsa-miR-4656	CLIP-seq
MIRT2315147	hsa-miR-4667-3p	CLIP-seq
MIRT2315148	hsa-miR-4675	CLIP-seq
MIRT2315149	hsa-miR-4691-3p	CLIP-seq
MIRT2315150	hsa-miR-4717-3p	CLIP-seq
MIRT2315151	hsa-miR-4736	CLIP-seq
MIRT2315152	hsa-miR-4741	CLIP-seq
MIRT2315153	hsa-miR-4755-5p	CLIP-seq
MIRT2090299	hsa-miR-545	CLIP-seq
MIRT2315154	hsa-miR-550b	CLIP-seq
MIRT2315155	hsa-miR-642a	CLIP-seq
MIRT2315156	hsa-miR-762	CLIP-seq
MIRT2315157	hsa-miR-885-3p	CLIP-seq
MIRT1304929	hsa-miR-939	CLIP-seq
MIRT2315126	hsa-miR-1324	CLIP-seq
MIRT1304866	hsa-miR-2392	CLIP-seq
MIRT2393693	hsa-miR-3132	CLIP-seq
MIRT1304881	hsa-miR-3187-3p	CLIP-seq
MIRT2393694	hsa-miR-3189-3p	CLIP-seq
MIRT2393695	hsa-miR-3192	CLIP-seq
MIRT2393696	hsa-miR-362-5p	CLIP-seq
MIRT2393697	hsa-miR-4257	CLIP-seq
MIRT2393698	hsa-miR-4264	CLIP-seq
MIRT2393699	hsa-miR-4292	CLIP-seq
MIRT2393700	hsa-miR-4308	CLIP-seq
MIRT2393701	hsa-miR-4310	CLIP-seq
MIRT1304895	hsa-miR-4435	CLIP-seq
MIRT2393702	hsa-miR-4451	CLIP-seq
MIRT2315142	hsa-miR-4475	CLIP-seq
MIRT1304897	hsa-miR-4529-5p	CLIP-seq
MIRT2393703	hsa-miR-4685-5p	CLIP-seq
MIRT1304905	hsa-miR-4701-5p	CLIP-seq
MIRT2393704	hsa-miR-4713-3p	CLIP-seq
MIRT1304907	hsa-miR-4733-3p	CLIP-seq
MIRT1304908	hsa-miR-4747-5p	CLIP-seq
MIRT2393705	hsa-miR-4797-3p	CLIP-seq
MIRT2393706	hsa-miR-500b	CLIP-seq
MIRT1304918	hsa-miR-548s	CLIP-seq
MIRT1304919	hsa-miR-588	CLIP-seq
MIRT2393707	hsa-miR-670	CLIP-seq
MIRT1304928	hsa-miR-765	CLIP-seq
MIRT2393708	hsa-miR-802	CLIP-seq
MIRT2465968	hsa-miR-2861	CLIP-seq
MIRT2465969	hsa-miR-3157-5p	CLIP-seq
MIRT2393694	hsa-miR-3189-3p	CLIP-seq
MIRT2465970	hsa-miR-3620	CLIP-seq
MIRT2315149	hsa-miR-4691-3p	CLIP-seq
MIRT2465971	hsa-miR-635	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA

Other IDs

• MIM: 619017
• HGNC: 16502
• e!Ensembl: ENSG00000141314

Protein

• UniProt ID: P58872
• Protein name: Rhomboid-related protein 3 (EC 3.4.21.105) (Ventrhoid transmembrane protein)
• Protein function: May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13499	EF-hand_7	36 → 100	EF-hand domain pair	Domain
  PF01694	Rhomboid	205 → 362	Rhomboid family	Family

• Sequence:

  MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFR
  SLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNKRSNSFRQAILQGNRRLSS
  KALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYN
  GVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVP
  LEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMK
  CQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRN
  YEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP

• Sequence length: 404

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
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	27563067	Associate	★☆☆☆☆ Found in Text Mining only