Human Gene MKRN3 (ENST00000314520.6_5) from GENCODE V47lift37
  Description: makorin ring finger protein 3 (from RefSeq NM_005664.4)
Gencode Transcript: ENST00000314520.6_5
Gencode Gene: ENSG00000179455.10_9
Transcript (Including UTRs)
   Position: hg19 chr15:23,810,821-23,813,191 Size: 2,371 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr15:23,810,930-23,812,453 Size: 1,524 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:23,810,821-23,813,191)mRNA (may differ from genome)Protein (507 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MKRN3_HUMAN
DESCRIPTION: RecName: Full=Probable E3 ubiquitin-protein ligase makorin-3; EC=6.3.2.-; AltName: Full=RING finger protein 63; AltName: Full=Zinc finger protein 127;
FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
INTERACTION: O15151:MDM4; NbExp=2; IntAct=EBI-2340269, EBI-398437;
TISSUE SPECIFICITY: Ubiquitous.
MISCELLANEOUS: Imprinted, expressed from the paternal chromosome only. A deficiency of MKRN3 is not sufficient to cause Prader- Willi syndrome (PWS).
SIMILARITY: Contains 3 C3H1-type zinc fingers.
SIMILARITY: Contains 1 RING-type zinc finger.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MKRN3
Diseases sorted by gene-association score: precocious puberty, central, 2* (1330), idiopathic central precocious puberty* (368), precocious puberty (23), central precocious puberty (21), prader-willi syndrome (20), chromosomal disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.57 RPKM in Testis
Total median expression: 15.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.00109-0.294 Picture PostScript Text
3' UTR -165.90738-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026290 - Makorin-related
IPR026294 - Makorin_3
IPR000571 - Znf_CCCH
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF12861 - Anaphase-promoting complex subunit 11 RING-H2 finger
PF13445 - RING-type zinc-finger
PF14608 - RNA-binding, Nab2-type zinc finger
PF15815 - E3 ubiquitin-protein ligase makorin, C-terminal
PF18044 - CCCH-type zinc finger

SCOP Domains:
57850 - RING/U-box
90229 - CCCH zinc finger

ModBase Predicted Comparative 3D Structure on Q13064
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0016567 protein ubiquitination

Cellular Component:
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  BC070293 - Homo sapiens makorin ring finger protein 3, mRNA (cDNA clone IMAGE:4731576), complete cds.
AK309383 - Homo sapiens cDNA, FLJ99424.
BC044639 - Homo sapiens makorin ring finger protein 3, mRNA (cDNA clone MGC:52220 IMAGE:4140028), complete cds.
JD083757 - Sequence 64781 from Patent EP1572962.
JD038362 - Sequence 19386 from Patent EP1572962.
EU446987 - Synthetic construct Homo sapiens clone IMAGE:100070129; IMAGE:100012196; FLH257422.01L makorin, ring finger protein, 3 (MKRN3) gene, encodes complete protein.
KJ905954 - Synthetic construct Homo sapiens clone ccsbBroadEn_15624 MKRN3 gene, encodes complete protein.
CU692226 - Synthetic construct Homo sapiens gateway clone IMAGE:100022516 5' read MKRN3 mRNA.
KJ892413 - Synthetic construct Homo sapiens clone ccsbBroadEn_01807 MKRN3 gene, encodes complete protein.
JD503186 - Sequence 484210 from Patent EP1572962.
JD470626 - Sequence 451650 from Patent EP1572962.
JD114295 - Sequence 95319 from Patent EP1572962.
JD509059 - Sequence 490083 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D15S9, ENST00000314520.1, ENST00000314520.2, ENST00000314520.3, ENST00000314520.4, ENST00000314520.5, MKRN3_HUMAN, NM_005664, Q13064, RNF63, uc317pqh.1, uc317pqh.2, ZNF127
UCSC ID: ENST00000314520.6_5
RefSeq Accession: NM_005664.4
Protein: Q13064 (aka MKRN3_HUMAN or MKR3_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.