MKRN3 (makorin ring finger protein 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 7681
Gene name Makorin ring finger protein 3
Gene symbol MKRN3
Synonyms (NCBI Gene)
CPPB2D15S9RNF63ZFP127ZNF127
Chromosome 15
Chromosome location 15q11.2
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
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs763195944 C>-,CC Pathogenic Frameshift variant, coding sequence variant
rs879255238 C>- Pathogenic Frameshift variant, coding sequence variant
rs879255239 ->A Pathogenic Coding sequence variant, stop gained
rs879255240 G>C,T Pathogenic Coding sequence variant, missense variant
rs1264639964 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
57
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (57)
miRTarBase ID miRNA Experiments Reference
MIRT530277 hsa-miR-548ac PAR-CLIP 22012620
MIRT530276 hsa-miR-548bb-3p PAR-CLIP 22012620
MIRT530275 hsa-miR-548d-3p PAR-CLIP 22012620
MIRT530274 hsa-miR-548h-3p PAR-CLIP 22012620
MIRT530273 hsa-miR-548z PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0000209 Process Protein polyubiquitination ISS
GO:0003723 Function RNA binding ISS
GO:0005515 Function Protein binding IPI 19549727, 21516116, 22046132, 22493164, 24722188, 25416956, 25910212, 26871637, 27107012, 31515488, 32296183, 32814053, 36217029
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603856 7114 ENSG00000179455
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13064
Protein name E3 ubiquitin-protein ligase makorin-3 (EC 2.3.2.27) (RING finger protein 63) (RING-type E3 ubiquitin transferase makorin-3) (Zinc finger protein 127)
Protein function E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Acts as a key developmental timer that helps ensure puberty begins at the appropriate age, by inhibiting premature activation of the reproducti
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18044 zf-CCCH_4 99 → 120 CCCH-type zinc finger Domain
PF14608 zf-CCCH_2 244 → 263 Domain
PF00097 zf-C3HC4 311 → 364 Zinc finger, C3HC4 type (RING finger) Domain
PF14608 zf-CCCH_2 399 → 420 Domain
PF15815 MKRN1_C 422 → 507 E3 ubiquitin-protein ligase makorin, C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10196367}.
Sequence 
MEEPAAPSEAHEAAGAQAGAEAAREGVSGPDLPVCEPSGESAAPDSALPHAARGWAPFPV
APVPAHLRRGGLRPAPASGGGAWPSPLPSRSSGIWTKQIICRYYIHGQCKEGENCRYSHD
LSGRKMATEGGVSPPGASAGGGPSTAAHIEPPTQEVAEAPPAASSLSLPVIGSAAERGFF
EAERDNADRGAAGGAGVESWADAIEFVPGQPYRGRWVASAPEAPLQSSETERKQMAVGSG
LRFCYYASRGVCFRGESCMYLHGDICDMCGLQTLHPMDAAQREEHMRACIEAHEKDMELS
FAVQRGMDKVCGICMEVVYEKANPNDRRFGILSNCNHSFCIRCIRRWRSARQFENRIVKS
CPQCRVTSELVIPSEFWVEEEEEKQKLIQQYKEAMSNKACRYFAEGRGNCPFGDTCFYKH
EYPEGWGDEPPGPGGGSFSAYWHQLVEPVRMGEGNMLYKSIKKELVVLRLASLLFKRFLS
LRDELPFSEDQWDLLHYELEEYFNLIL
Sequence length 507
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MKRN3-related disorder Likely pathogenic rs766690218 RCV003900792
Precocious puberty, central, 2 Pathogenic; Likely pathogenic rs763195944, rs1264639964, rs1566764505, rs879255238, rs879255239, rs879255240 RCV003142246
RCV000505267
RCV000766215
RCV000050238
RCV000050239
RCV000050240
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cancer Familial with In Vitro Radioresistance Associate 28621618
Cardiomyopathy Dilated Associate 27225315
Congenital Abnormalities Associate 35930274
Genetic Diseases Inborn Associate 32957387, 33383582
Glucose Intolerance Associate 32957387
Hyperlexia Associate 29763903
Kallmann Syndrome Associate 31628846
Left Right Axis Malformations Associate 33383582
Neoplasms Associate 36938725, 39217334
Neuroblastoma Associate 39217334