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

Gene ID: 7681, updated on 9-Jun-2020

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
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

Genomic context

See MKRN3 in Genome Data Viewer
Location:
15q11.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (23565674..23568044)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (23810454..23820764)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370730 Neighboring gene uncharacterized LOC107984793 Neighboring gene microRNA 4508 Neighboring gene MAGE family member L2 Neighboring gene necdin, MAGE family member

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-24)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated (2012-04-24)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC88288

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ribonucleoprotein complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

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)

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)

mRNA and Protein(s)

  1. NM_005664.4NP_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:95121
    ZnF_C3H1; zinc finger
    pfam15815
    Location:439505
    MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal
    cd16730
    Location:308368
    RING-HC_MKRN1_3; RING finger, HC subclass, found in makorin-1 (MKRN1), makorin-3 (MKRN3), and similar proteins
    cl26386
    Location:33232
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl27165
    Location:252400
    PHA02929; N1R/p28-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160017.1 Reference GRCh38.p13 PATCHES

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