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Aliases for MKRN3 Gene

Aliases for MKRN3 Gene

  • Makorin Ring Finger Protein 3 2 3
  • Zinc Finger Protein 127 2 3 4
  • ZNF127 3 4 6
  • RING Finger Protein 63 3 4
  • ZFP127 3 6
  • D15S9 3 4
  • CPPB2 3 6
  • RNF63 3 4
  • Probable E3 Ubiquitin-Protein Ligase Makorin-3 3
  • EC 6.3.2.- 4

External Ids for MKRN3 Gene

Previous Symbols for MKRN3 Gene

  • ZNF127
  • D15S9

Summaries for MKRN3 Gene

Entrez Gene Summary for MKRN3 Gene

  • 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]

GeneCards Summary for MKRN3 Gene

MKRN3 (Makorin Ring Finger Protein 3) is a Protein Coding gene. Diseases associated with MKRN3 include idiopathic central precocious puberty and precocious puberty, central, 2. GO annotations related to this gene include ligase activity. An important paralog of this gene is MKRN2.

UniProtKB/Swiss-Prot for MKRN3 Gene

  • E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKRN3 Gene

Genomics for MKRN3 Gene

Genomic Location for MKRN3 Gene

Start:
23,565,307 bp from pter
End:
23,630,075 bp from pter
Size:
64,769 bases
Orientation:
Plus strand

Genomic View for MKRN3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MKRN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKRN3 Gene

Proteins for MKRN3 Gene

  • Protein details for MKRN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13064-MKRN3_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase makorin-3
    Protein Accession:
    Q13064
    Secondary Accessions:

    Protein attributes for MKRN3 Gene

    Size:
    507 amino acids
    Molecular mass:
    55645 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Imprinted, expressed from the paternal chromosome only. A deficiency of MKRN3 is not sufficient to cause Prader-Willi syndrome (PWS)

neXtProt entry for MKRN3 Gene

Proteomics data for MKRN3 Gene at MOPED

Post-translational modifications for MKRN3 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys398

Other Protein References for MKRN3 Gene

No data available for DME Specific Peptides for MKRN3 Gene

Domains for MKRN3 Gene

Gene Families for MKRN3 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

UniProtKB/Swiss-Prot:

MKRN3_HUMAN
Similarity:
  • Contains 3 C3H1-type zinc fingers.:
    • Q13064
  • Contains 1 RING-type zinc finger.:
    • Q13064
genes like me logo Genes that share domains with MKRN3: view

Function for MKRN3 Gene

Molecular function for MKRN3 Gene

GENATLAS Biochemistry: makorin,ring finger protein,3,associated with a nuclear matrix attachment sequence (MAR),ubiquitously expressed from the paternal allele (maternally imprinted),mediating ubiquitin-conjugating enzyme (E2)-dependent ubiquitination
UniProtKB/Swiss-Prot Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

Enzyme Numbers (IUBMB) for MKRN3 Gene

Gene Ontology (GO) - Molecular Function for MKRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19549727
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding --
genes like me logo Genes that share ontologies with MKRN3: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MKRN3 Gene

Localization for MKRN3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MKRN3 Gene COMPARTMENTS Subcellular localization image for MKRN3 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MKRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030529 ribonucleoprotein complex TAS 10196367
genes like me logo Genes that share ontologies with MKRN3: view

Pathways for MKRN3 Gene

SuperPathways for MKRN3 Gene

No Data Available

UniProtKB/Swiss-Prot Q13064-MKRN3_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for MKRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MKRN3: view

No data available for Pathways by source for MKRN3 Gene

Transcripts for MKRN3 Gene

mRNA/cDNA for MKRN3 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MKRN3 Gene

Makorin ring finger protein 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MKRN3 Gene

No ASD Table

Relevant External Links for MKRN3 Gene

GeneLoc Exon Structure for
MKRN3
ECgene alternative splicing isoforms for
MKRN3

Expression for MKRN3 Gene

mRNA expression in normal human tissues for MKRN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MKRN3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (5.2) and Brain - Substantia nigra (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MKRN3 Gene

SOURCE GeneReport for Unigene cluster for MKRN3 Gene Hs.72964

mRNA Expression by UniProt/SwissProt for MKRN3 Gene

Q13064-MKRN3_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with MKRN3: view

Orthologs for MKRN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MKRN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MKRN3 36
  • 99.61 (n)
  • 99.61 (a)
MKRN3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MKRN1 37
  • 50 (a)
ManyToMany
MKRN3 36
  • 78.97 (n)
  • 68.18 (a)
dog
(Canis familiaris)
Mammalia MKRN3 36
  • 79.33 (n)
  • 70.16 (a)
MKRN3 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mkrn3 36
  • 76.67 (n)
  • 67.92 (a)
Mkrn3 16
Mkrn3 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MKRN3 37
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 32 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Mkrn3 36
  • 77.36 (n)
  • 67.72 (a)
chicken
(Gallus gallus)
Aves MKRN1 37
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 48 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii mkrn1 37
  • 45 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12477 37
  • 32 (a)
ManyToMany
CG5334 37
  • 40 (a)
ManyToMany
CG5347 37
  • 42 (a)
ManyToMany
Mkrn1 37
  • 34 (a)
ManyToMany
CG5334 38
  • 42 (a)
CG12477 38
  • 50 (a)
Mkrn1 38
  • 40 (a)
CG5347 38
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 36 (a)
OneToMany
Species with no ortholog for MKRN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MKRN3 Gene

ENSEMBL:
Gene Tree for MKRN3 (if available)
TreeFam:
Gene Tree for MKRN3 (if available)

Paralogs for MKRN3 Gene

Paralogs for MKRN3 Gene

Selected SIMAP similar genes for MKRN3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MKRN3: view

Variants for MKRN3 Gene

Sequence variations from dbSNP and Humsavar for MKRN3 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs2239669 -- 23,566,445(+) GCCCC(C/T)GAGGC reference, synonymous-codon
rs6576457 -- 23,564,729(+) GATAC(A/G)TACTC upstream-variant-2KB
rs7182383 -- 23,568,501(+) TAAGA(C/G)TAATA downstream-variant-500B
rs12148893 -- 23,568,515(+) AAAAT(C/T)TACAT downstream-variant-500B
rs12441827 -- 23,564,574(+) TATCA(C/T)GACAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MKRN3 Gene

Variant ID Type Subtype PubMed ID
dgv699e1 CNV Complex 17122850
nsv903594 CNV Gain 21882294
nsv832931 CNV Gain 17160897

Relevant External Links for MKRN3 Gene

HapMap Linkage Disequilibrium report
MKRN3
Human Gene Mutation Database (HGMD)
MKRN3

Disorders for MKRN3 Gene

(1) OMIM Diseases for MKRN3 Gene (603856)

UniProtKB/Swiss-Prot

MKRN3_HUMAN
  • Precocious puberty, central 2 (CPPB2) [MIM:615346]: A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis. {ECO:0000269 PubMed:23738509, ECO:0000269 PubMed:24438377, ECO:0000269 PubMed:24628548, ECO:0000269 PubMed:25011910, ECO:0000269 PubMed:25316453}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MKRN3 Gene

genes like me logo Genes that share disorders with MKRN3: view

Publications for MKRN3 Gene

  1. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. (PMID: 10196367) Jong M.T.C. … Nicholls R.D. (Hum. Mol. Genet. 1999) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. (PMID: 19066619) Kanber D. … Buiting K. (Eur. J. Hum. Genet. 2009) 3 4
  4. Central precocious puberty caused by mutations in the imprinted gene MKRN3. (PMID: 23738509) Abreu A.P. … Kaiser U.B. (N. Engl. J. Med. 2013) 3 4
  5. Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene. (PMID: 24438377) Settas N. … Voutetakis A. (J. Clin. Endocrinol. Metab. 2014) 3 4

Products for MKRN3 Gene

Sources for MKRN3 Gene

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