MKRN3 makorin ring finger protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MKRN3provided by HGNC
Official Full Name: makorin ring finger protein 3provided by HGNC
Primary source: HGNC:HGNC:7114
See related: Ensembl:ENSG00000179455 MIM:603856; AllianceGenome:HGNC:7114
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPPB2; D15S9; RNF63; ZFP127; ZNF127
Summary: 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. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 15q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (23565674..23568044)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (21300088..21302458)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (23810821..23813191)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
Title: Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
The Key Roles of Makorin RING Finger Protein 3 (MKRN3) During the Development of Pubertal Initiation and Central Precocious Puberty (CPP).
Title: The Key Roles of Makorin RING Finger Protein 3 (MKRN3) During the Development of Pubertal Initiation and Central Precocious Puberty (CPP).
Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty.
Title: Comparison of Makorin Ring Finger Protein 3 Levels Between Obese and Normal Weight Patients with Central Precocious Puberty.
MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.
Title: MKRN3 inhibits puberty onset via interaction with IGF2BP1 and regulation of hypothalamic plasticity.
Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.
Title: Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.
MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.
Title: MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.
Familial central precocious puberty: two novel MKRN3 mutations.
Title: Familial central precocious puberty: two novel MKRN3 mutations.
The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty.
Title: The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty.
[Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects].
Title: [Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects].
E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non-small cell lung cancer.
Title: E3 ligase MKRN3 is a tumor suppressor regulating PABPC1 ubiquitination in non-small cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Prader-Willi syndrome MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome	Compare labs
Precocious puberty, central, 2 MedGen: C3809199 OMIM: 615346 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of makorin ring finger protein 3 (MKRN3) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:192783 (e-PCR)
- UniSTS:155725

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-35648 (e-PCR)
- UniSTS:55723

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of ribonucleoprotein complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: probable E3 ubiquitin-protein ligase makorin-3

Names: RING finger protein 63; RING-type E3 ubiquitin transferase makorin-3; zinc finger protein 127

NP_005655.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012875.3 RefSeqGene

Range

5368..7738

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1045

mRNA and Protein(s)

NM_005664.4 → NP_005655.1 probable E3 ubiquitin-protein ligase makorin-3

See identical proteins and their annotated locations for NP_005655.1

Status: REVIEWED

Source sequence(s)

AC126407, BC044639, DA495139

Consensus CDS

CCDS10013.1

UniProtKB/Swiss-Prot

Q13064

Related

ENSP00000313881.3, ENST00000314520.6

Conserved Domains (5) summary

smart00356
Location:95 → 121

ZnF_C3H1; zinc finger

pfam15815
Location:439 → 505

MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal

cd16730
Location:308 → 368

RING-HC_MKRN1_3; RING finger, HC subclass, found in makorin-1 (MKRN1), makorin-3 (MKRN3), and similar proteins

cl26386
Location:33 → 232

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

cl27165
Location:252 → 400

PHA02929; N1R/p28-like protein; Provisional