TRIM50

TRIM50
Identifiers
Aliases	TRIM50, TRIM50A, tripartite motif containing 50
External IDs	OMIM: 612548; MGI: 2664992; GeneCards: TRIM50
Enzyme activity
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,328,082 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,396,859 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; body of stomach; ; gonad; ; oocyte; ; secondary oocyte; ; right testis; ; left testis; ; fundus; ; human kidney; ; cardia;
	Top expressed in
	stomach; ; embryo; ; embryo; ; secondary oocyte; ; primary oocyte; ; pancreas; ; ovary; ; blastocyst; ; islet of Langerhans; ; duodenum;
	More reference expression data
	n/a
Gene ontology
Molecular function	metal ion binding; zinc ion binding; identical protein binding; transferase activity;
Cellular component	cytoplasm; intracellular anatomical structure; cytosol; aggresome;
Biological process	metabolism; regulation of establishment of protein localization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	135892
	215061
	ENSG00000146755
	ENSMUSG00000053388
	Q86XT4
	Q810I2
	NM_001281450; NM_001281451; NM_178125
	NM_178240; NM_001346745
	NP_001268379; NP_001268380; NP_835226
	NP_001333674; NP_839971
	Wikidata
View/Edit Human	View/Edit Mouse

Tripartite motif-containing 50, also known as TRIM50, is a human gene. TRIM50 encodes an E3 ubiquitin ligase. The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The gene is located at 7q11.23, near two homologous genes, TRIM73 and TRIM74. TRIM50 is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000146755 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053388 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: TRIM50 tripartite motif-containing 50".
↑ Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A (2008). "Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase". European Journal of Human Genetics. 16 (9): 1038–49. doi:10.1038/ejhg.2008.68. PMC 2680067. PMID 18398435.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000146755 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053388 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: TRIM50 tripartite motif-containing 50".

[pmid18398435-6] Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A (2008). "Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase". European Journal of Human Genetics. 16 (9): 1038–49. doi:10.1038/ejhg.2008.68. PMC 2680067. PMID 18398435.