MKRN3

MKRN3
Identifiers
Aliases	MKRN3, CPPB2, D15S9, RNF63, ZFP127, ZNF127, makorin ring finger protein 3
External IDs	OMIM: 603856; MGI: 2181178; HomoloGene: 4143; GeneCards: MKRN3; OMA:MKRN3 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	23,630,075 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	62,069,887 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; testicle; ; ventricular zone; ; C1 segment; ; corpus callosum; ; amygdala; ; minor salivary glands; ; putamen; ; prefrontal cortex; ; caudate nucleus;
	Top expressed in
	medial ganglionic eminence; ; stellate ganglion; ; thoracic ganglia; ; superior cervical ganglion; ; ventricular zone; ; trigeminal ganglion; ; embryo; ; neural tube; ; greater petrosal nerve; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; metal ion binding; transferase activity; identical protein binding;
Cellular component	ribonucleoprotein complex;
Biological process	protein ubiquitination;
	Sources:Amigo / QuickGO
Orthologs
	7681
	22652
	ENSG00000179455
	ENSMUSG00000070527
	Q13064; Q6NSB6
	Q60764
	NM_005664
	NM_011746
	NP_005655
	NP_035876
	Wikidata
View/Edit Human	View/Edit Mouse

Makorin ring finger protein 3 is a protein that in humans is encoded by the MKRN3 gene.^[5]

Function

The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader–Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene.^{[citation needed]}

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000179455 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000070527 – 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: Makorin ring finger protein 3". Retrieved 2017-06-12.

Jong MT, Gray TA, Ji Y, Glenn CC, Saitoh S, Driscoll DJ, Nicholls RD (1999). "A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region". Hum. Mol. Genet. 8 (5): 783–93. doi:10.1093/hmg/8.5.783. PMID 10196367.
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB (2013). "Central precocious puberty caused by mutations in the imprinted gene MKRN3". N. Engl. J. Med. 368 (26): 2467–75. doi:10.1056/NEJMoa1302160. PMC 3808195. PMID 23738509.
Settas N, Dacou-Voutetakis C, Karantza M, Kanaka-Gantenbein C, Chrousos GP, Voutetakis A (2014). "Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene". J. Clin. Endocrinol. Metab. 99 (4): E647–51. doi:10.1210/jc.2013-4084. PMID 24438377.
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC (2014). "Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3". J. Clin. Endocrinol. Metab. 99 (6): E1097–103. doi:10.1210/jc.2013-3126. PMC 4037732. PMID 24628548.
Schreiner F, Gohlke B, Hamm M, Korsch E, Woelfle J (2014). "MKRN3 mutations in familial central precocious puberty". Horm Res Paediatr. 82 (2): 122–6. doi:10.1159/000362815. PMID 25011910. S2CID 30493230.
de Vries L, Gat-Yablonski G, Dror N, Singer A, Phillip M (2014). "A novel MKRN3 missense mutation causing familial precocious puberty". Hum. Reprod. 29 (12): 2838–43. doi:10.1093/humrep/deu256. PMID 25316453.
Hagen CP, Sørensen K, Mieritz MG, Johannsen TH, Almstrup K, Juul A (2015). "Circulating MKRN3 levels decline prior to pubertal onset and through puberty: a longitudinal study of healthy girls". J. Clin. Endocrinol. Metab. 100 (5): 1920–6. doi:10.1210/jc.2014-4462. PMID 25695892.
Lee HS, Jin HS, Shim YS, Jeong HR, Kwon E, Choi V, Kim MC, Chung IS, Jeong SY, Hwang JS (2016). "Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls". Horm. Metab. Res. 48 (2): 118–22. doi:10.1055/s-0035-1548938. PMID 25938887.
Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC (2015). "A new pathway in the control of the initiation of puberty: the MKRN3 gene". J. Mol. Endocrinol. 54 (3): R131–9. doi:10.1530/JME-14-0315. PMC 4573396. PMID 25957321.

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000179455 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000070527 – 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: Makorin ring finger protein 3". Retrieved 2017-06-12.

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Function

References

Further reading