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	84991
Gene name	RNA binding motif protein 17
Gene symbol	RBM17
Synonyms (NCBI Gene)	SPF45
Chromosome	10
Chromosome location	10p15.1
Summary	This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chrom

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021290	hsa-miR-125a-5p	Sequencing	20371350
MIRT025594	hsa-miR-10a-5p	Sequencing	20371350
MIRT047772	hsa-miR-7-5p	CLASH	23622248
MIRT047489	hsa-miR-10b-5p	CLASH	23622248
MIRT1295086	hsa-miR-1290	CLIP-seq
MIRT1295087	hsa-miR-130a	CLIP-seq
MIRT1295088	hsa-miR-130b	CLIP-seq
MIRT1295089	hsa-miR-2053	CLIP-seq
MIRT1295090	hsa-miR-301a	CLIP-seq
MIRT1295091	hsa-miR-301b	CLIP-seq
MIRT1295092	hsa-miR-3120-5p	CLIP-seq
MIRT1295093	hsa-miR-3591-5p	CLIP-seq
MIRT1295094	hsa-miR-3647-3p	CLIP-seq
MIRT1295095	hsa-miR-3666	CLIP-seq
MIRT1295096	hsa-miR-3667-3p	CLIP-seq
MIRT1295097	hsa-miR-3671	CLIP-seq
MIRT1295098	hsa-miR-3692	CLIP-seq
MIRT1295099	hsa-miR-4275	CLIP-seq
MIRT1295100	hsa-miR-4295	CLIP-seq
MIRT1295101	hsa-miR-4473	CLIP-seq
MIRT1295102	hsa-miR-454	CLIP-seq
MIRT1295103	hsa-miR-4671-3p	CLIP-seq
MIRT1295104	hsa-miR-4696	CLIP-seq
MIRT1295105	hsa-miR-4705	CLIP-seq
MIRT1295106	hsa-miR-4775	CLIP-seq
MIRT1295107	hsa-miR-4778-5p	CLIP-seq
MIRT1295108	hsa-miR-569	CLIP-seq
MIRT1295109	hsa-miR-607	CLIP-seq
MIRT1295110	hsa-miR-889	CLIP-seq
MIRT1295111	hsa-miR-924	CLIP-seq
MIRT1295112	hsa-miR-340	CLIP-seq
MIRT1295113	hsa-miR-3664-3p	CLIP-seq
MIRT1295114	hsa-miR-4282	CLIP-seq
MIRT1295115	hsa-miR-4311	CLIP-seq
MIRT1295116	hsa-miR-4433	CLIP-seq
MIRT1295117	hsa-miR-4445	CLIP-seq
MIRT1295118	hsa-miR-4459	CLIP-seq
MIRT1295119	hsa-miR-4768-3p	CLIP-seq
MIRT1295120	hsa-miR-510	CLIP-seq
MIRT1295121	hsa-miR-513a-3p	CLIP-seq
MIRT1295122	hsa-miR-590-3p	CLIP-seq
MIRT1295087	hsa-miR-130a	CLIP-seq
MIRT1295088	hsa-miR-130b	CLIP-seq
MIRT1295090	hsa-miR-301a	CLIP-seq
MIRT1295091	hsa-miR-301b	CLIP-seq
MIRT1295093	hsa-miR-3591-5p	CLIP-seq
MIRT1295095	hsa-miR-3666	CLIP-seq
MIRT1295100	hsa-miR-4295	CLIP-seq
MIRT1295101	hsa-miR-4473	CLIP-seq
MIRT1295102	hsa-miR-454	CLIP-seq
MIRT1295103	hsa-miR-4671-3p	CLIP-seq
MIRT1295104	hsa-miR-4696	CLIP-seq
MIRT1295087	hsa-miR-130a	CLIP-seq
MIRT1295088	hsa-miR-130b	CLIP-seq
MIRT1295090	hsa-miR-301a	CLIP-seq
MIRT1295091	hsa-miR-301b	CLIP-seq
MIRT1295093	hsa-miR-3591-5p	CLIP-seq
MIRT1295095	hsa-miR-3666	CLIP-seq
MIRT1295100	hsa-miR-4295	CLIP-seq
MIRT1295101	hsa-miR-4473	CLIP-seq
MIRT1295102	hsa-miR-454	CLIP-seq
MIRT1295103	hsa-miR-4671-3p	CLIP-seq
MIRT1295104	hsa-miR-4696	CLIP-seq
MIRT2087710	hsa-miR-3612	CLIP-seq
MIRT2087711	hsa-miR-4443	CLIP-seq
MIRT2087712	hsa-miR-4802-5p	CLIP-seq
MIRT2087713	hsa-miR-485-5p	CLIP-seq
MIRT2087714	hsa-miR-650	CLIP-seq
MIRT2312512	hsa-miR-34a	CLIP-seq
MIRT2312513	hsa-miR-34c-5p	CLIP-seq
MIRT1295096	hsa-miR-3667-3p	CLIP-seq
MIRT2312514	hsa-miR-3691-3p	CLIP-seq
MIRT2312515	hsa-miR-4496	CLIP-seq
MIRT2312516	hsa-miR-449a	CLIP-seq
MIRT2312517	hsa-miR-449b	CLIP-seq
MIRT2312518	hsa-miR-4663	CLIP-seq
MIRT2312519	hsa-miR-4682	CLIP-seq
MIRT2312520	hsa-miR-4728-3p	CLIP-seq
MIRT2087712	hsa-miR-4802-5p	CLIP-seq
MIRT2312521	hsa-miR-490-5p	CLIP-seq
MIRT2312522	hsa-miR-518a-5p	CLIP-seq
MIRT2312523	hsa-miR-526b	CLIP-seq
MIRT2312524	hsa-miR-527	CLIP-seq
MIRT2312525	hsa-miR-582-5p	CLIP-seq
MIRT1295111	hsa-miR-924	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000375	Process	RNA splicing, via transesterification reactions	IEA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IMP	17589525
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 17332742, 17577209, 17589525, 18337722, 21516116, 22365833, 25416956, 26420826, 28514442, 29021621, 31515488, 32296183, 32814053, 33961781, 35271311, 37219487
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0045292	Process	MRNA cis splicing, via spliceosome	IEA

MIM	HGNC	e!Ensembl
606935	16944	ENSG00000134453

Q96I25

Protein name

Splicing factor 45 (45 kDa-splicing factor) (RNA-binding motif protein 17)

Protein function

Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes th

PDB

2PE8 , 2PEH , 5LSO , 6HIP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01585	G-patch	235 → 279	G-patch domain	Family
PF00076	RRM_1	323 → 383	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Sequence

MSLYDDLGVETSDSKTEGWSKNFKLLQSQLQVKKAALTQAKSQRTKQSTVLAPVIDLKRG
GSSDDRQIVDTPPHVAAGLKDPVPSGFSAGEVLIPLADEYDPMFPNDYEKVVKRQREERQ
RQRELERQKEIEEREKRRKDRHEASGFARRPDPDSDEDEDYERERRKRSMGGAAIAPPTS
LVEKDKELPRDFPYEEDSRPRSQSSKAAIPPPVYEEQDRPRSPTGPSNSFLANMGGTVAH
KIMQKYGFREGQGLGKHEQGLSTALSVEKTSKRGGKIIVGDATEKDASKKSDSNPLTEIL
KCPTKVVLLRNMVGAGEVDEDLEVETKEECEKYGKVGKCVIFEIPGAPDDEAVRIFLEFE
RVESAIKAVVDLNGRYFGGRVVKACFYNLDKFRVLDLAEQV

Sequence length

401

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

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 (17)

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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATENT AUTOIMMUNE DIABETES IN ADULTS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (21)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	14578179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15526362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32497093	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17676041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30227940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35781533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35781533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	15526362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14578179, 29552202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	40243905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14578179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	14578179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	18337722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	40243905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RBM17 (RNA binding motif protein 17)