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... See more...

Aliases for MKRN3 Gene

Aliases for MKRN3 Gene

  • Makorin Ring Finger Protein 3 2 3 5
  • Zinc Finger Protein 127 2 3 4
  • Probable E3 Ubiquitin-Protein Ligase Makorin-3 3 4
  • RING-Type E3 Ubiquitin Transferase Makorin-3 3 4
  • RING Finger Protein 63 3 4
  • ZNF127 3 4
  • D15S9 3 4
  • RNF63 3 4
  • EC 2.3.2.27 4
  • ZFP127 3
  • CPPB2 3

External Ids for MKRN3 Gene

Previous HGNC Symbols for MKRN3 Gene

  • ZNF127
  • D15S9

Previous GeneCards Identifiers for MKRN3 Gene

  • GC15U990051
  • GC15P016700
  • GC15P021228
  • GC15P021358
  • GC15P021361
  • GC15P023810
  • GC15P001945
  • GC15P023874
  • GC15P023950
  • GC15P024210
  • GC15P024256
  • GC15P024301
  • GC15P023982
  • GC15P024015
  • GC15P024041
  • GC15P024069
  • GC15P024095
  • GC15P024122
  • GC15P024151
  • GC15P024182

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 Precocious Puberty, Central, 2 and Idiopathic Central Precocious Puberty. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is MKRN1.

UniProtKB/Swiss-Prot Summary for MKRN3 Gene

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

Additional gene information for MKRN3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MKRN3 Gene

Genomics for MKRN3 Gene

GeneHancer (GH) Regulatory Elements for MKRN3 Gene

Promoters and enhancers for MKRN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J023564 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.8 1794 5 ZBTB40 NRF1 TCF12 POLR2G GTF2E2 PHF8 SIX5 ZNF639 REST ZBTB11 MKRN3 ENSG00000260978 lnc-MAGEL2-2
GH15J023689 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 10.7 +125.4 125437 2.8 EP300 NRF1 NCOR1 KDM6A TCF7 TGIF2 SKI TEAD1 ZSCAN9 FOXA2 MAGEL2 MKRN3 NDN lnc-NDN-5 lnc-MKRN3-5
GH15J023504 Enhancer 0.6 Ensembl ENCODE 11.4 -61.3 -61306 0.8 ZIC2 HDAC2 ZFHX2 EGR2 PRDM10 SCRT2 MKRN3 lnc-GOLGA6L2-1 LOC105370729
GH15J023596 Enhancer 0.2 FANTOM5 1.8 +31.6 31632 0.3 MKRN3 piR-33211-003 lnc-GOLGA8S-5
GH15J023570 Promoter/Enhancer 0.7 Ensembl ENCODE 0.4 +5.3 5265 0.3 XRCC5 SOX13 ENSG00000260978 piR-34822-101 lnc-MAGEL2-2 MKRN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKRN3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MKRN3

Top Transcription factor binding sites by QIAGEN in the MKRN3 gene promoter:
  • AML1a
  • C/EBPalpha
  • FOXO1
  • FOXO1a
  • HEN1
  • NF-kappaB1
  • Pax-6
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for MKRN3 Gene

Genomic Locations for MKRN3 Gene
chr15:23,565,307-23,630,075
(GRCh38/hg38)
Size:
64,769 bases
Orientation:
Plus strand
chr15:23,810,454-23,873,064
(GRCh37/hg19)
Size:
62,611 bases
Orientation:
Plus strand

Genomic View for MKRN3 Gene

Genes around MKRN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKRN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

Post-translational modifications for MKRN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MKRN3 Gene

No data available for DME Specific Peptides for MKRN3 Gene

Domains & Families for MKRN3 Gene

Gene Families for MKRN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MKRN3 Gene

Blocks:
  • Zn-finger, RING
  • Zn-finger, C-x8-C-x5-C-x3-H type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MKRN3 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 127 (MKRN3_HUMAN)
  • MKRN3 protein (Q6NSB6_HUMAN)
genes like me logo Genes that share domains with MKRN3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MKRN3 Gene

Function for MKRN3 Gene

Molecular function for MKRN3 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.
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

Enzyme Numbers (IUBMB) for MKRN3 Gene

Phenotypes From GWAS Catalog 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:0016740 transferase activity IEA --
GO:0042802 identical protein binding IPI 22493164
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MKRN3: view
genes like me logo Genes that share phenotypes with MKRN3: view

Human Phenotype Ontology for MKRN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MKRN3 Gene

Localization for MKRN3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKRN3 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MKRN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1990904 ribonucleoprotein complex TAS 10196367
genes like me logo Genes that share ontologies with MKRN3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MKRN3 Gene

Pathways & Interactions for MKRN3 Gene

PathCards logo

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 and SIGNOR curated interactions for MKRN3 Gene

Drugs & Compounds for MKRN3 Gene

No Compound Related Data Available

Transcripts for MKRN3 Gene

mRNA/cDNA for MKRN3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for MKRN3 Gene

GeneLoc Exon Structure for
MKRN3

Expression for MKRN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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) (x5.2) and Brain - Substantia nigra (x4.1).

Protein differential expression in normal tissues from HIPED for MKRN3 Gene

This gene is overexpressed in Breast (60.8) and Retina (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MKRN3 Gene



Protein tissue co-expression partners for MKRN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MKRN3

SOURCE GeneReport for Unigene cluster for MKRN3 Gene:

Hs.72964

mRNA Expression by UniProt/SwissProt for MKRN3 Gene:

Q13064-MKRN3_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MKRN3 Gene

  • Muscle(4.1)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MKRN3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns 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 31 30
  • 99.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MKRN3 31 30
  • 79.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MKRN3 30
  • 78.97 (n)
MKRN1 31
  • 50 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Mkrn3 30
  • 77.36 (n)
mouse
(Mus musculus)
Mammalia Mkrn3 17 31 30
  • 76.67 (n)
oppossum
(Monodelphis domestica)
Mammalia MKRN3 31
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 32 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MKRN1 31
  • 49 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 48 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii mkrn1 31
  • 45 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5347 31 32
  • 42 (a)
ManyToMany
CG5334 31 32
  • 40 (a)
ManyToMany
Mkrn1 31 32
  • 34 (a)
ManyToMany
CG12477 31 32
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for MKRN3 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MKRN3: view image

Paralogs for MKRN3 Gene

Paralogs for MKRN3 Gene

(3) SIMAP similar genes for MKRN3 Gene using alignment to 4 proteins:

  • MKRN3_HUMAN
  • H3BPL3_HUMAN
  • H3BUZ8_HUMAN
  • Q6NSB6_HUMAN
genes like me logo Genes that share paralogs with MKRN3: view

Variants for MKRN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MKRN3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
723342 Benign: not provided 23,566,184(+) G/A SYNONYMOUS_VARIANT
724914 Benign: not provided 23,567,239(+) C/G MISSENSE_VARIANT
726815 Benign: not provided 23,566,175(+) C/T SYNONYMOUS_VARIANT
727967 Benign: not provided 23,566,348(+) G/A MISSENSE_VARIANT
731888 Likely Benign: not provided 23,566,139(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MKRN3 Gene

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

Variant ID Type Subtype PubMed ID
esv3635842 CNV gain 21293372
esv3892632 CNV gain 25118596
nsv1042668 CNV loss 25217958
nsv568341 CNV gain 21841781
nsv832931 CNV gain 17160897

Variation tolerance for MKRN3 Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 18.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MKRN3 Gene

Human Gene Mutation Database (HGMD)
MKRN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKRN3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKRN3 Gene

Disorders for MKRN3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for MKRN3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MKRN3 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MKRN3

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

No data available for Genatlas for MKRN3 Gene

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 MT … Nicholls RD (Human molecular genetics 1999) 2 3 4 54
  2. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. (PMID: 24628548) Macedo DB … Latronico AC (The Journal of clinical endocrinology and metabolism 2014) 3 4 54
  3. 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 (The Journal of clinical endocrinology and metabolism 2014) 3 4 54
  4. MKRN3 mutations in familial central precocious puberty. (PMID: 25011910) Schreiner F … Woelfle J (Hormone research in paediatrics 2014) 3 4 54
  5. A novel MKRN3 missense mutation causing familial precocious puberty. (PMID: 25316453) de Vries L … Phillip M (Human reproduction (Oxford, England) 2014) 3 4 54

Products for MKRN3 Gene

  • Signalway ELISA kits for MKRN3
  • Signalway Proteins for MKRN3

Sources for MKRN3 Gene