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

    Gene ID: 7681, updated on 27-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
    		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

    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.

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