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Protein

Probable E3 ubiquitin-protein ligase makorin-3

Gene

MKRN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.By similarity1 Publication

Miscellaneous

Imprinted, expressed from the paternal chromosome only. A deficiency of MKRN3 is not sufficient to cause Prader-Willi syndrome (PWS).

Catalytic activityi

S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N6-ubiquitinyl-[acceptor protein]-L-lysine.

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri95 – 122C3H1-type 1PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri238 – 265C3H1-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri311 – 365RING-typePROSITE-ProRule annotationAdd BLAST55
Zinc fingeri394 – 423C3H1-type 3PROSITE-ProRule annotationAdd BLAST30

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW
  • transferase activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

UniPathwayi
UPA00143

Protein family/group databases

MoonDBiQ13064 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Probable E3 ubiquitin-protein ligase makorin-3 (EC:2.3.2.27)
Alternative name(s):
RING finger protein 63
RING-type E3 ubiquitin transferase makorin-3Curated
Zinc finger protein 127
Gene namesi
Name:MKRN3
Synonyms:D15S9, RNF63, ZNF127
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000179455.7
HGNCiHGNC:7114 MKRN3
MIMi603856 gene
neXtProtiNX_Q13064

Subcellular locationi

Pathology & Biotechi

Involvement in diseasei

Precocious puberty, central 2 (CPPB2)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615346
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073023340C → G in CPPB2. 1 Publication1
Natural variantiVAR_070103365R → S in CPPB2. 1 PublicationCorresponds to variant dbSNP:rs879255240EnsemblClinVar.1
Natural variantiVAR_073024417F → I in CPPB2. 1 Publication1
Natural variantiVAR_073025420H → Q in CPPB2. 1 PublicationCorresponds to variant dbSNP:rs755791221Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7681
GeneReviewsiMKRN3
MalaCardsiMKRN3
MIMi615346 phenotype
OpenTargetsiENSG00000179455
Orphaneti169615 Idiopathic central precocious puberty
PharmGKBiPA30833

Polymorphism and mutation databases

BioMutaiMKRN3
DMDMi17368438

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000559591 – 507Probable E3 ubiquitin-protein ligase makorin-3Add BLAST507

Proteomic databases

EPDiQ13064
MaxQBiQ13064
PaxDbiQ13064
PeptideAtlasiQ13064
PRIDEiQ13064
ProteomicsDBi59127

PTM databases

iPTMnetiQ13064
PhosphoSitePlusiQ13064

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000179455 Expressed in 88 organ(s), highest expression level in corpus callosum
CleanExiHS_MKRN3
ExpressionAtlasiQ13064 baseline and differential
GenevisibleiQ13064 HS

Organism-specific databases

HPAiHPA029494

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113479, 57 interactors
IntActiQ13064, 179 interactors
MINTiQ13064
STRINGi9606.ENSP00000313881

Structurei

3D structure databases

ProteinModelPortaliQ13064
SMRiQ13064
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni266 – 293Makorin-type Cys-HisAdd BLAST28

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri95 – 122C3H1-type 1PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri238 – 265C3H1-type 2PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri311 – 365RING-typePROSITE-ProRule annotationAdd BLAST55
Zinc fingeri394 – 423C3H1-type 3PROSITE-ProRule annotationAdd BLAST30

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1039 Eukaryota
ENOG410XRM0 LUCA
GeneTreeiENSGT00390000014093
HOGENOMiHOG000252976
HOVERGENiHBG066965
InParanoidiQ13064
KOiK15687
OMAiSEDQWDL
OrthoDBiEOG091G07DG
PhylomeDBiQ13064
TreeFamiTF315108

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR026294 Makorin_3
IPR031644 MKRN1_C
IPR018957 Znf_C3HC4_RING-type
IPR000571 Znf_CCCH
IPR036855 Znf_CCCH_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PANTHERiPTHR11224:SF38 PTHR11224:SF38, 1 hit
PfamiView protein in Pfam
PF15815 MKRN1_C, 1 hit
PF00097 zf-C3HC4, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00356 ZnF_C3H1, 3 hits
SUPFAMiSSF90229 SSF90229, 1 hit
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 3 hits
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q13064-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEEPAAPSEA HEAAGAQAGA EAAREGVSGP DLPVCEPSGE SAAPDSALPH
60 70 80 90 100
AARGWAPFPV APVPAHLRRG GLRPAPASGG GAWPSPLPSR SSGIWTKQII
110 120 130 140 150
CRYYIHGQCK EGENCRYSHD LSGRKMATEG GVSPPGASAG GGPSTAAHIE
160 170 180 190 200
PPTQEVAEAP PAASSLSLPV IGSAAERGFF EAERDNADRG AAGGAGVESW
210 220 230 240 250
ADAIEFVPGQ PYRGRWVASA PEAPLQSSET ERKQMAVGSG LRFCYYASRG
260 270 280 290 300
VCFRGESCMY LHGDICDMCG LQTLHPMDAA QREEHMRACI EAHEKDMELS
310 320 330 340 350
FAVQRGMDKV CGICMEVVYE KANPNDRRFG ILSNCNHSFC IRCIRRWRSA
360 370 380 390 400
RQFENRIVKS CPQCRVTSEL VIPSEFWVEE EEEKQKLIQQ YKEAMSNKAC
410 420 430 440 450
RYFAEGRGNC PFGDTCFYKH EYPEGWGDEP PGPGGGSFSA YWHQLVEPVR
460 470 480 490 500
MGEGNMLYKS IKKELVVLRL ASLLFKRFLS LRDELPFSED QWDLLHYELE

EYFNLIL
Length:507
Mass (Da):55,645
Last modified:November 1, 1996 - v1
Checksum:i2EDBA91190F3A292
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6NSB6Q6NSB6_HUMAN
MKRN3 protein
MKRN3
105Annotation score:
H3BPL3H3BPL3_HUMAN
Probable E3 ubiquitin-protein ligas...
MKRN3
182Annotation score:
H3BUZ8H3BUZ8_HUMAN
Probable E3 ubiquitin-protein ligas...
MKRN3
28Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035955145T → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs371642799Ensembl.1
Natural variantiVAR_035956239S → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_073023340C → G in CPPB2. 1 Publication1
Natural variantiVAR_070103365R → S in CPPB2. 1 PublicationCorresponds to variant dbSNP:rs879255240EnsemblClinVar.1
Natural variantiVAR_073024417F → I in CPPB2. 1 Publication1
Natural variantiVAR_073025420H → Q in CPPB2. 1 PublicationCorresponds to variant dbSNP:rs755791221Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19107 Genomic DNA Translation: AAC13989.1
BC044639 mRNA Translation: AAH44639.1
CCDSiCCDS10013.1
PIRiG01614
RefSeqiNP_005655.1, NM_005664.3
UniGeneiHs.679587
Hs.72964

Genome annotation databases

EnsembliENST00000314520; ENSP00000313881; ENSG00000179455
GeneIDi7681
KEGGihsa:7681
UCSCiuc001ywh.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19107 Genomic DNA Translation: AAC13989.1
BC044639 mRNA Translation: AAH44639.1
CCDSiCCDS10013.1
PIRiG01614
RefSeqiNP_005655.1, NM_005664.3
UniGeneiHs.679587
Hs.72964

3D structure databases

ProteinModelPortaliQ13064
SMRiQ13064
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113479, 57 interactors
IntActiQ13064, 179 interactors
MINTiQ13064
STRINGi9606.ENSP00000313881

Protein family/group databases

MoonDBiQ13064 Predicted

PTM databases

iPTMnetiQ13064
PhosphoSitePlusiQ13064

Polymorphism and mutation databases

BioMutaiMKRN3
DMDMi17368438

Proteomic databases

EPDiQ13064
MaxQBiQ13064
PaxDbiQ13064
PeptideAtlasiQ13064
PRIDEiQ13064
ProteomicsDBi59127

Protocols and materials databases

DNASUi7681
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314520; ENSP00000313881; ENSG00000179455
GeneIDi7681
KEGGihsa:7681
UCSCiuc001ywh.5 human

Organism-specific databases

CTDi7681
DisGeNETi7681
EuPathDBiHostDB:ENSG00000179455.7
GeneCardsiMKRN3
GeneReviewsiMKRN3
HGNCiHGNC:7114 MKRN3
HPAiHPA029494
MalaCardsiMKRN3
MIMi603856 gene
615346 phenotype
neXtProtiNX_Q13064
OpenTargetsiENSG00000179455
Orphaneti169615 Idiopathic central precocious puberty
PharmGKBiPA30833
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1039 Eukaryota
ENOG410XRM0 LUCA
GeneTreeiENSGT00390000014093
HOGENOMiHOG000252976
HOVERGENiHBG066965
InParanoidiQ13064
KOiK15687
OMAiSEDQWDL
OrthoDBiEOG091G07DG
PhylomeDBiQ13064
TreeFamiTF315108

Enzyme and pathway databases

UniPathwayi
UPA00143

Miscellaneous databases

GenomeRNAii7681
PROiPR:Q13064
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179455 Expressed in 88 organ(s), highest expression level in corpus callosum
CleanExiHS_MKRN3
ExpressionAtlasiQ13064 baseline and differential
GenevisibleiQ13064 HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR026294 Makorin_3
IPR031644 MKRN1_C
IPR018957 Znf_C3HC4_RING-type
IPR000571 Znf_CCCH
IPR036855 Znf_CCCH_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PANTHERiPTHR11224:SF38 PTHR11224:SF38, 1 hit
PfamiView protein in Pfam
PF15815 MKRN1_C, 1 hit
PF00097 zf-C3HC4, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00356 ZnF_C3H1, 3 hits
SUPFAMiSSF90229 SSF90229, 1 hit
PROSITEiView protein in PROSITE
PS50103 ZF_C3H1, 3 hits
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMKRN3_HUMAN
AccessioniPrimary (citable) accession number: Q13064
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 161 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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