Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84676
Gene name	Tripartite motif containing 63
Gene symbol	TRIM63
Synonyms (NCBI Gene)	CMH31IRFMURF1MURF2RNF28SMRZ
Chromosome	1
Chromosome location	1p36.11
Summary	This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs148395034	G>A,C	Likely-pathogenic, uncertain-significance, likely-benign	Stop gained, missense variant, coding sequence variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005909	hsa-miR-29a-3p	qRT-PCR	21169019
MIRT017998	hsa-miR-335-5p	Microarray	18185580
MIRT645501	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT645499	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT645500	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT645498	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT645497	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT645496	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645495	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT645494	hsa-miR-3660	HITS-CLIP	23824327
MIRT645493	hsa-miR-4526	HITS-CLIP	23824327
MIRT645492	hsa-miR-6719-3p	HITS-CLIP	23824327
MIRT645491	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT645490	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT645489	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT645488	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT645487	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT645486	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT645485	hsa-miR-4256	HITS-CLIP	23824327
MIRT645484	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT645501	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT645499	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT645500	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT645498	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT645497	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT645496	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645495	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT645494	hsa-miR-3660	HITS-CLIP	23824327
MIRT645493	hsa-miR-4526	HITS-CLIP	23824327
MIRT645492	hsa-miR-6719-3p	HITS-CLIP	23824327
MIRT645491	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT645490	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT645489	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT645488	hsa-miR-6815-3p	HITS-CLIP	23824327
MIRT645487	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT645486	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT645485	hsa-miR-4256	HITS-CLIP	23824327
MIRT645484	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT1455602	hsa-miR-1287	CLIP-seq
MIRT1455603	hsa-miR-23a	CLIP-seq
MIRT1455604	hsa-miR-23b	CLIP-seq
MIRT1455605	hsa-miR-23c	CLIP-seq
MIRT1455606	hsa-miR-300	CLIP-seq
MIRT1455607	hsa-miR-3135b	CLIP-seq
MIRT1455608	hsa-miR-346	CLIP-seq
MIRT1455609	hsa-miR-381	CLIP-seq
MIRT1455610	hsa-miR-4288	CLIP-seq
MIRT1455611	hsa-miR-4302	CLIP-seq
MIRT1455612	hsa-miR-4666-3p	CLIP-seq
MIRT1455613	hsa-miR-4710	CLIP-seq
MIRT1455614	hsa-miR-4789-5p	CLIP-seq
MIRT1455615	hsa-miR-4795-3p	CLIP-seq
MIRT1455616	hsa-miR-548c-3p	CLIP-seq
MIRT1455617	hsa-miR-632	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	18157088, 23414517, 31391242, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11927605
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	11243782
GO:0005874	Component	Microtubule	NAS	11243782
GO:0006936	Process	Muscle contraction	IEA
GO:0007165	Process	Signal transduction	NAS	11243782
GO:0008270	Function	Zinc ion binding	IEA
GO:0010614	Process	Negative regulation of cardiac muscle hypertrophy	IEA
GO:0014732	Process	Skeletal muscle atrophy	IEA
GO:0014878	Process	Response to electrical stimulus involved in regulation of muscle adaptation	IEA
GO:0014878	Process	Response to electrical stimulus involved in regulation of muscle adaptation	ISS
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0031430	Component	M band	IEA
GO:0031432	Function	Titin binding	IDA	11927605
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045820	Process	Negative regulation of glycolytic process	IMP	34244144
GO:0046872	Function	Metal ion binding	IEA
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	34244144
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070555	Process	Response to interleukin-1	IEA

MIM	HGNC	e!Ensembl
606131	16007	ENSG00000158022

Q969Q1

Protein name

E3 ubiquitin-protein ligase TRIM63 (EC 2.3.2.27) (Iris RING finger protein) (Muscle-specific RING finger protein 1) (MuRF-1) (MuRF1) (RING finger protein 28) (RING-type E3 ubiquitin transferase TRIM63) (Striated muscle RING zinc finger protein) (Tripartit

Protein function

E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provid

PDB

2D8U , 3DDT , 4M3L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13445	zf-RING_UBOX	23 → 76	RING-type zinc-finger	Domain
PF00643	zf-B_box	118 → 159	B-box zinc finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Muscle specific. Selectively expressed in heart and skeletal muscle. Also expressed in the iris. {ECO:0000269|PubMed:11243782, ECO:0000269|PubMed:11283016, ECO:0000269|PubMed:11679633, ECO:0000269|PubMed:12107412}.

Sequence

MDYKSSLIQDGNPMENLEKQLICPICLEMFTKPVVILPCQHNLCRKCANDIFQAANPYWT
SRGSSVSMSGGRFRCPTCRHEVIMDRHGVYGLQRNLLVENIIDIYKQECSSRPLQKGSHP
MCKEHEDEKINIYCLTCEVPTCSMCKVFGIHKACEVAPLQSVFQGQKTELNNCISMLVAG
NDRVQTIITQLEDSRRVTKENSHQVKEELSQKFDTLYAILDEKKSELLQRITQEQEKKLS
FIEALIQQYQEQLDKSTKLVETAIQSLDEPGGATFLLTAKQLIKSIVEASKGCQLGKTEQ
GFENMDFFTLDLEHIADALRAIDFGTDEEEEEFIEEEDQEEEESTEGKEEGHQ

Sequence length

353

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy, familial hypertrophic, 31	Pathogenic	rs540072010	RCV005606795
Hypertrophic cardiomyopathy	Pathogenic	rs540072010	RCV001533452
Idiopathic cardiomyopathy	Pathogenic	rs750765152	RCV003985950
See cases	Pathogenic	rs540072010	RCV002254720

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity	rs775364417, rs140523053, rs148395034, rs200811483, rs142710853, rs755534853, rs754874432, rs772441844, rs202072815, rs561602133, rs755450272	RCV005405879 RCV005404285 RCV005404397 RCV005404396 RCV005406013 RCV005406115 RCV005406129 RCV005404137 RCV005404769 RCV005404930 RCV005628682
Primary familial hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs730880235, rs140523053, rs148395034, rs200811483, rs142710853, rs2522774983	RCV000157546 RCV000157545 RCV000208240 RCV000208412 RCV003883212 RCV004555918
TRIM63-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs61749354, rs150672089, rs140523053, rs780549059, rs183036213, rs2522760749, rs61760891, rs6656100	RCV003941082 RCV003948683 RCV004755782 RCV003420952 RCV003974268 RCV003899259 RCV004756062 RCV003920420

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Refractory with Excess of Blasts	Associate	25803272
Atherosclerosis	Associate	33782480
Atrophy	Associate	16916907, 18240972, 22518834, 24704539, 27526027, 35806119, 37021483, 37335026
Burns	Associate	23816995
Carcinogenesis	Associate	20507321
Carcinoma Renal Cell	Associate	33854184
Cardiomegaly	Associate	30372688
Cardiomyopathies	Associate	32451364
Cardiomyopathy Hypertrophic	Associate	24865491, 32451364, 37431535, 38002985, 39971408
Cardiomyopathy Restrictive	Associate	32451364
Cerebrovascular Disorders	Associate	32451364
COVID 19	Associate	34566957
Crisponi syndrome	Associate	26329309
Critical Illness	Associate	21483870
Cryopyrin Associated Periodic Syndromes	Stimulate	37380094
Diabetic Cardiomyopathies	Stimulate	37355664
Heart Diseases	Associate	30372688
Hypertrophy	Stimulate	16916907
Hypertrophy Left Ventricular	Associate	32451364
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	23432902
Infections	Associate	8552643
Inflammation	Associate	27193023, 35684042, 39946176
Ischemia	Associate	22761181
Kidney Diseases	Associate	34952945
Leiomyosarcoma	Associate	21192842
Lower Extremity Deformities Congenital	Associate	20538844
Lung Neoplasms	Associate	30697967
Lupus Erythematosus Systemic	Associate	18050197
Lymphoma	Associate	34952945
Lymphoma Large B Cell Diffuse	Associate	27994293
Malnutrition	Stimulate	23432902
Melanoma	Associate	26489459
Muscular Atrophy	Associate	15100091, 21304964, 23432902, 23844868, 29364489, 30901379, 35204692, 35454154, 35704697, 35736168, 36764073, 36854567, 38004107, 39946176
Muscular Atrophy	Stimulate	23284670
Muscular Diseases	Associate	30372688
Muscular Disorders Atrophic	Associate	18221329, 27526027
Muscular Disorders Atrophic	Stimulate	23284670
Myositis	Associate	39946176
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	30901379
Myotonic Dystrophy	Associate	30901379
Nasopharyngeal Carcinoma	Associate	36371985
Neoplasms	Associate	37021483
Osteoporosis	Associate	26329309, 33782480
Pancreatic Neoplasms	Stimulate	35146962
Papillomavirus Infections	Associate	33164635
Pulmonary Disease Chronic Obstructive	Associate	23844868, 27526027
Sarcoma Alveolar Soft Part	Associate	19146682
Sarcopenia	Associate	35806119
Sjogren's Syndrome	Associate	18050197
Spinal Cord Injuries	Stimulate	17218363
Stomach Neoplasms	Associate	20507321
Systemic Inflammatory Response Syndrome	Associate	31016887
Tachycardia Ventricular	Associate	32451364
Ventricular Dysfunction Left	Associate	32451364
Virus Diseases	Associate	21680528, 8552643

TRIM63 (tripartite motif containing 63)