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

Gene ID: 7681, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See MKRN3 in Genome Data Viewer
Location:
15q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (23565674..23568044)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (21300088..21302458)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (23810821..23813191)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370729 Neighboring gene microRNA 4508 Neighboring gene uncharacterized LOC124903576 Neighboring gene NANOG hESC enhancer GRCh37_chr15:23873940-23874461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:23891457-23892301 Neighboring gene MAGE family member L2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case. Stecchini MF, et al. Horm Res Paediatr, 2016. PMID 27424312, Free PMC Article
  2. Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome. Meader BN, et al. J Clin Endocrinol Metab, 2020 Aug 1. PMID 32480405, Free PMC Article
  3. Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism. Varimo T, et al. Clin Endocrinol (Oxf), 2016 Jan. PMID 26175221
  4. A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty. Känsäkoski J, et al. Pediatr Res, 2015 Dec. PMID 26331766
  5. Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty. Simon D, et al. Eur J Endocrinol, 2016 Jan. PMID 26431553

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.
    Title: MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.
  2. 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.
  3. 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).
  4. 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.
  5. 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.
  6. 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.
  7. MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.
    Title: MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.
  8. Familial central precocious puberty: two novel MKRN3 mutations.
    Title: Familial central precocious puberty: two novel MKRN3 mutations.
  9. 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.
  10. [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].
Submit: New GeneRIF Correction See all GeneRIFs (46)

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
not available
Precocious puberty, central, 2
MedGen: C3809199 OMIM: 615346 GeneReviews: Not available
not available

EBI GWAS Catalog

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

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • MGC88288

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

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

  1. NG_012875.3 RefSeqGene

    Range
    5368..7738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1045

mRNA and Protein(s)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    23565674..23568044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021160017.1 Reference GRCh38.p14 PATCHES

    Range
    4513146..4515516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    21300088..21302458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13064.1 GenPept UniProtKB/Swiss-Prot:Q13064

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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