Details for: MKRN3

Gene ID: 7681

Symbol: MKRN3

Ensembl ID: ENSG00000179455

Description: makorin ring finger protein 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 74.1987
    Cell Significance Index: -18.8200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 33.0529
    Cell Significance Index: -15.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.0573
    Cell Significance Index: -18.5700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.7108
    Cell Significance Index: -10.3100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.6542
    Cell Significance Index: 36.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.8841
    Cell Significance Index: 49.6100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.8707
    Cell Significance Index: 53.5200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.8435
    Cell Significance Index: 20.2300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3732
    Cell Significance Index: 23.5200
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.3147
    Cell Significance Index: 4.4000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2701
    Cell Significance Index: 3.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1795
    Cell Significance Index: 64.3900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1603
    Cell Significance Index: 4.4800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0703
    Cell Significance Index: 3.1100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0694
    Cell Significance Index: 1.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0659
    Cell Significance Index: 101.4300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0555
    Cell Significance Index: 9.0300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.0530
    Cell Significance Index: 0.7500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0456
    Cell Significance Index: 20.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0429
    Cell Significance Index: 79.0400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0262
    Cell Significance Index: 35.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0227
    Cell Significance Index: 42.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0120
    Cell Significance Index: 1.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0041
    Cell Significance Index: -0.1300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0054
    Cell Significance Index: -1.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0111
    Cell Significance Index: -7.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0189
    Cell Significance Index: -13.8400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0237
    Cell Significance Index: -17.9100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0241
    Cell Significance Index: -17.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0317
    Cell Significance Index: -17.8500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0324
    Cell Significance Index: -14.3100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0328
    Cell Significance Index: -9.4500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0329
    Cell Significance Index: -17.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0512
    Cell Significance Index: -9.2300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0522
    Cell Significance Index: -3.1400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0665
    Cell Significance Index: -13.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0677
    Cell Significance Index: -8.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0680
    Cell Significance Index: -13.6400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0859
    Cell Significance Index: -18.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0960
    Cell Significance Index: -16.3900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0998
    Cell Significance Index: -6.7100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1172
    Cell Significance Index: -15.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1220
    Cell Significance Index: -14.3900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1224
    Cell Significance Index: -13.3100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1301
    Cell Significance Index: -15.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1338
    Cell Significance Index: -13.6700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1404
    Cell Significance Index: -3.7500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1421
    Cell Significance Index: -19.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1576
    Cell Significance Index: -2.7000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1627
    Cell Significance Index: -16.9400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1693
    Cell Significance Index: -6.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1707
    Cell Significance Index: -19.5600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1735
    Cell Significance Index: -4.4600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1810
    Cell Significance Index: -7.8700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1834
    Cell Significance Index: -8.5500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1978
    Cell Significance Index: -2.9800
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2031
    Cell Significance Index: -1.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2040
    Cell Significance Index: -14.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2041
    Cell Significance Index: -15.2100
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.2154
    Cell Significance Index: -2.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2237
    Cell Significance Index: -17.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2337
    Cell Significance Index: -15.0800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2436
    Cell Significance Index: -12.7900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2473
    Cell Significance Index: -12.8800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2483
    Cell Significance Index: -1.5000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2707
    Cell Significance Index: -6.7500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2743
    Cell Significance Index: -3.2000
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.2999
    Cell Significance Index: -2.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.3071
    Cell Significance Index: -13.9200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3119
    Cell Significance Index: -14.6600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3120
    Cell Significance Index: -8.9900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3314
    Cell Significance Index: -3.9500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3396
    Cell Significance Index: -4.2400
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.3400
    Cell Significance Index: -2.1400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.3976
    Cell Significance Index: -4.8200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4294
    Cell Significance Index: -5.4200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4360
    Cell Significance Index: -9.2900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4514
    Cell Significance Index: -6.4700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4552
    Cell Significance Index: -23.6500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4588
    Cell Significance Index: -15.0200
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.4611
    Cell Significance Index: -3.0000
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.4680
    Cell Significance Index: -6.5600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4727
    Cell Significance Index: -7.5000
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.4743
    Cell Significance Index: -5.4000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4776
    Cell Significance Index: -16.7300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4810
    Cell Significance Index: -10.4200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.4872
    Cell Significance Index: -15.4100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.4933
    Cell Significance Index: -11.9500
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.5002
    Cell Significance Index: -5.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5018
    Cell Significance Index: -14.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5020
    Cell Significance Index: -13.4500
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.5028
    Cell Significance Index: -4.9800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5112
    Cell Significance Index: -16.2800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.5164
    Cell Significance Index: -15.1700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5191
    Cell Significance Index: -15.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.5194
    Cell Significance Index: -18.2500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5264
    Cell Significance Index: -15.0900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5454
    Cell Significance Index: -9.4300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5487
    Cell Significance Index: -10.8500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5531
    Cell Significance Index: -11.7400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MKRN3 exhibits several key characteristics that distinguish it from other proteins in its family. Firstly, its RING finger domain is highly conserved across species, indicating its critical role in protein-protein interactions. Additionally, MKRN3 has been shown to interact with various proteins, including ubiquitin ligases, which are essential for the regulation of protein ubiquitination. Furthermore, MKRN3 has been implicated in the regulation of protein polyubiquitination, a process that is crucial for the degradation of proteins and the maintenance of cellular homeostasis. **Pathways and Functions** MKRN3 plays a crucial role in several cellular pathways, including: 1. **Immune Regulation**: MKRN3 is highly expressed in professional antigen-presenting cells, suggesting its involvement in immune regulation. It has been shown to interact with various immune-related proteins, including ubiquitin ligases, which are essential for the regulation of protein ubiquitination. 2. **Protein Polyubiquitination**: MKRN3 has been implicated in the regulation of protein polyubiquitination, a process that is crucial for the degradation of proteins and the maintenance of cellular homeostasis. 3. **Ribonucleoprotein Complex**: MKRN3 has been shown to interact with ribonucleoprotein complexes, which are essential for the regulation of RNA metabolism. 4. **Metal Ion Binding**: MKRN3 has been shown to bind metal ions, which are essential for its enzymatic activity. **Clinical Significance** The clinical significance of MKRN3 is an area of active research. While its exact role in human disease is not yet fully understood, several studies have implicated MKRN3 in various diseases, including: 1. **Autoimmune Diseases**: MKRN3 has been shown to be involved in the regulation of immune responses, and its dysfunction has been implicated in autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 2. **Neurological Disorders**: MKRN3 has been shown to be highly expressed in the brain, and its dysfunction has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer**: MKRN3 has been shown to interact with various proteins involved in cancer progression, suggesting its potential role in cancer development and progression. In conclusion, MKRN3 is a complex gene that plays a critical role in immune regulation, cellular homeostasis, and various physiological processes. Its clinical significance is an area of active research, and further studies are needed to fully understand its role in human disease. As an expert immunologist, I believe that MKRN3 is an important gene that warrants further investigation, and its study has the potential to reveal new insights into the mechanisms of immune regulation and cellular homeostasis.

Genular Protein ID: 1206691578

Symbol: MKRN3_HUMAN

Name: Probable E3 ubiquitin-protein ligase makorin-3

UniProtKB Accession Codes:

Q13064

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 2 Ensembl 1 ExpressionAtlas 1 GO 7 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 2 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10196367

Title: A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region.

PubMed ID: 10196367

DOI: 10.1093/hmg/8.5.783

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19066619

Title: A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

PubMed ID: 19066619

DOI: 10.1038/ejhg.2008.232

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 23738509

Title: Central precocious puberty caused by mutations in the imprinted gene MKRN3.

PubMed ID: 23738509

DOI: 10.1056/nejmoa1302160

PubMed ID: 25011910

Title: MKRN3 mutations in familial central precocious puberty.

PubMed ID: 25011910

DOI: 10.1159/000362815

PubMed ID: 25316453

Title: A novel MKRN3 missense mutation causing familial precocious puberty.

PubMed ID: 25316453

DOI: 10.1093/humrep/deu256

PubMed ID: 24438377

Title: Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.

PubMed ID: 24438377

DOI: 10.1210/jc.2013-4084

PubMed ID: 24628548

Title: Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

PubMed ID: 24628548

DOI: 10.1210/jc.2013-3126

Sequence Information:

  • Length: 507
  • Mass: 55645
  • Checksum: 2EDBA91190F3A292
  • Sequence:
    • MEEPAAPSEA HEAAGAQAGA EAAREGVSGP DLPVCEPSGE SAAPDSALPH AARGWAPFPV 
APVPAHLRRG GLRPAPASGG GAWPSPLPSR SSGIWTKQII CRYYIHGQCK EGENCRYSHD 
LSGRKMATEG GVSPPGASAG GGPSTAAHIE PPTQEVAEAP PAASSLSLPV IGSAAERGFF 
EAERDNADRG AAGGAGVESW ADAIEFVPGQ PYRGRWVASA PEAPLQSSET ERKQMAVGSG 
LRFCYYASRG VCFRGESCMY LHGDICDMCG LQTLHPMDAA QREEHMRACI EAHEKDMELS 
FAVQRGMDKV CGICMEVVYE KANPNDRRFG ILSNCNHSFC IRCIRRWRSA RQFENRIVKS 
CPQCRVTSEL VIPSEFWVEE EEEKQKLIQQ YKEAMSNKAC RYFAEGRGNC PFGDTCFYKH 
EYPEGWGDEP PGPGGGSFSA YWHQLVEPVR MGEGNMLYKS IKKELVVLRL ASLLFKRFLS 
LRDELPFSED QWDLLHYELE EYFNLIL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.