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	7844
Gene name	Ring finger protein 103
Gene symbol	RNF103
Synonyms (NCBI Gene)	HKF-1KF-1KF1ZFP-103ZFP103
Chromosome	2
Chromosome location	2p11.2
Summary	The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counter

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miRTarBase ID	miRNA	Experiments	Reference
MIRT044458	hsa-miR-320a	CLASH	23622248
MIRT036187	hsa-miR-320b	CLASH	23622248
MIRT439765	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT439765	hsa-miR-21-5p	HITS-CLIP	22473208
MIRT726738	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726739	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT726737	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1309058	hsa-miR-1264	CLIP-seq
MIRT1309059	hsa-miR-431	CLIP-seq
MIRT1309060	hsa-miR-4457	CLIP-seq
MIRT1309061	hsa-miR-4731-3p	CLIP-seq
MIRT1309062	hsa-miR-4778-5p	CLIP-seq
MIRT1309063	hsa-miR-4801	CLIP-seq
MIRT1309064	hsa-miR-513a-3p	CLIP-seq
MIRT1309065	hsa-miR-640	CLIP-seq
MIRT1309066	hsa-miR-643	CLIP-seq
MIRT1309067	hsa-miR-885-5p	CLIP-seq
MIRT1309068	hsa-miR-3148	CLIP-seq
MIRT1309069	hsa-miR-3661	CLIP-seq
MIRT1309070	hsa-miR-4517	CLIP-seq
MIRT1309071	hsa-miR-492	CLIP-seq
MIRT1309072	hsa-miR-548c-3p	CLIP-seq
MIRT1309073	hsa-miR-619	CLIP-seq
MIRT1309074	hsa-miR-631	CLIP-seq
MIRT1309075	hsa-miR-875-3p	CLIP-seq
MIRT1309076	hsa-miR-142-5p	CLIP-seq
MIRT1309077	hsa-miR-21	CLIP-seq
MIRT1309078	hsa-miR-25	CLIP-seq
MIRT1309079	hsa-miR-32	CLIP-seq
MIRT1309080	hsa-miR-330-3p	CLIP-seq
MIRT1309081	hsa-miR-340	CLIP-seq
MIRT1309082	hsa-miR-363	CLIP-seq
MIRT1309083	hsa-miR-367	CLIP-seq
MIRT1309084	hsa-miR-4662a-3p	CLIP-seq
MIRT1309085	hsa-miR-4717-3p	CLIP-seq
MIRT1309086	hsa-miR-590-5p	CLIP-seq
MIRT1309087	hsa-miR-888	CLIP-seq
MIRT1309088	hsa-miR-92a	CLIP-seq
MIRT1309089	hsa-miR-92b	CLIP-seq
MIRT2316254	hsa-miR-1247	CLIP-seq
MIRT2316255	hsa-miR-323-3p	CLIP-seq
MIRT2316256	hsa-miR-342-3p	CLIP-seq
MIRT2316257	hsa-miR-376a	CLIP-seq
MIRT2316258	hsa-miR-376b	CLIP-seq
MIRT2316259	hsa-miR-4775	CLIP-seq
MIRT2393791	hsa-miR-4652-3p	CLIP-seq
MIRT2612453	hsa-miR-3143	CLIP-seq
MIRT1309084	hsa-miR-4662a-3p	CLIP-seq
MIRT2612454	hsa-miR-543	CLIP-seq
MIRT2612455	hsa-miR-548an	CLIP-seq
MIRT1309087	hsa-miR-888	CLIP-seq
MIRT2612453	hsa-miR-3143	CLIP-seq
MIRT1309084	hsa-miR-4662a-3p	CLIP-seq
MIRT2612454	hsa-miR-543	CLIP-seq
MIRT2612455	hsa-miR-548an	CLIP-seq
MIRT1309087	hsa-miR-888	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	10500182
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	18675248
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	18675248
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0007417	Process	Central nervous system development	TAS	9070305
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	10500182
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IDA	18675248
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:1904380	Process	Endoplasmic reticulum mannose trimming	TAS

MIM	HGNC	e!Ensembl
602507	12859	ENSG00000239305

O00237

Protein name

E3 ubiquitin-protein ligase RNF103 (EC 2.3.2.27) (KF-1) (hKF-1) (RING finger protein 103) (RING-type E3 ubiquitin transferase RNF103) (Zinc finger protein 103 homolog) (Zfp-103)

Protein function

Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13639	zf-RING_2	619 → 663	Ring finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the normal cerebellum but not in the cerebral cortex. {ECO:0000269|PubMed:9070305}.

Sequence

MWLKLFFLLLYFLVLFVLARFFEAIVWYETGIFATQLVDPVALSFKKLKTILECRGLGYS
GLPEKKDVRELVEKSGDLMEGELYSALKEEEASESVSSTNFSGEMHFYELVEDTKDGIWL
VQVIANDRSPLVGKIHWEKMVKKVSRFGIRTGTFNCSSDPRYCRRRGWVRSTLIMSVPQT
STSKGKVMLKEYSGRKIEVEHIFKWITAHAASRIKTIYNAEHLKEEWNKSDQYWLKIYLF
ANLDQPPAFFSALSIKFTGRVEFIFVNVENWDNKSYMTDIGIYNMPSYILRTPEGIYRYG
NHTGEFISLQAMDSFLRSLQPEVNDLFVLSLVLVNLMAWMDLFITQGATIKRFVVLISTL
GTYNSLLIISWLPVLGFLQLPYLDSFYEYSLKLLRYSNTTTLASWVRADWMFYSSHPALF
LSTYLGHGLLIDYFEKKRRRNNNNDEVNANNLEWLSSLWDWYTSYLFHPIASFQNFPVES
DWDEDPDLFLERLAFPDLWLHPLIPTDYIKNLPMWRFKCLGVQSEEEMSEGSQDTENDSE
SENTDTLSSEKEVFEDKQSVLHNSPGTASHCDAEACSCANKYCQTSPCERKGRSYGSYNT
NEDMEPDWLTWPADMLHCTECVVCLENFENGCLLMGLPCGHVFHQNCIVMWLAGGRHCCP
VCRWPSYKKKQPYAQHQPLSNDVPS

Sequence length

685

Interactions

View interactions

	Reactome
			ER Quality Control Compartment (ERQC)

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 (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	2654297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	3891876	Associate	★★★★★ ★☆☆☆☆ 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
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

RNF103 (ring finger protein 103)