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Protein

Probable E3 ubiquitin-protein ligase makorin-3

Gene

MKRN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

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.

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
  • transferase activity Source: UniProtKB-KW
  • zinc ion binding Source: InterPro

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

UniPathwayiUPA00143.

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

HGNCiHGNC:7114. MKRN3.

Subcellular locationi

GO - Cellular componenti

  • intracellular ribonucleoprotein complex Source: ProtInc

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 Publication1
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.
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.

PTM databases

iPTMnetiQ13064.
PhosphoSitePlusiQ13064.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000179455.
CleanExiHS_MKRN3.
ExpressionAtlasiQ13064. baseline and differential.
GenevisibleiQ13064. HS.

Organism-specific databases

HPAiHPA029494.

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi113479. 57 interactors.
IntActiQ13064. 156 interactors.
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.
OMAiQCKEGEN.
OrthoDBiEOG091G07DG.
PhylomeDBiQ13064.
TreeFamiTF315108.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
4.10.1000.10. 2 hits.
InterProiView protein in InterPro
IPR026294. Makorin_3.
IPR031644. MKRN1_C.
IPR018957. Znf_C3HC4_RING-type.
IPR000571. Znf_CCCH.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
PANTHERiPTHR11224:SF47. PTHR11224:SF47. 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.

Sequencei

Sequence statusi: Complete.

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

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 Publication1
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

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. 156 interactors.
STRINGi9606.ENSP00000313881.

PTM databases

iPTMnetiQ13064.
PhosphoSitePlusiQ13064.

Polymorphism and mutation databases

BioMutaiMKRN3.
DMDMi17368438.

Proteomic databases

EPDiQ13064.
MaxQBiQ13064.
PaxDbiQ13064.
PeptideAtlasiQ13064.
PRIDEiQ13064.

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.
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.
OMAiQCKEGEN.
OrthoDBiEOG091G07DG.
PhylomeDBiQ13064.
TreeFamiTF315108.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

GenomeRNAii7681.
PROiQ13064.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179455.
CleanExiHS_MKRN3.
ExpressionAtlasiQ13064. baseline and differential.
GenevisibleiQ13064. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
4.10.1000.10. 2 hits.
InterProiView protein in InterPro
IPR026294. Makorin_3.
IPR031644. MKRN1_C.
IPR018957. Znf_C3HC4_RING-type.
IPR000571. Znf_CCCH.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
PANTHERiPTHR11224:SF47. PTHR11224:SF47. 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: March 15, 2017
This is version 147 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

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.