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Aliases for MKRN1 Gene

Aliases for MKRN1 Gene

  • Makorin Ring Finger Protein 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase Makorin-1 3 4
  • RING Finger Protein 61 3 4
  • RNF61 3 4
  • E3 Ubiquitin-Protein Ligase Makorin-1 3
  • EC 2.3.2.27 4

External Ids for MKRN1 Gene

Previous GeneCards Identifiers for MKRN1 Gene

  • GC07M138423
  • GC07M139483
  • GC07M139560
  • GC07M139606
  • GC07M139799
  • GC07M140152

Summaries for MKRN1 Gene

Entrez Gene Summary for MKRN1 Gene

  • This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

GeneCards Summary for MKRN1 Gene

MKRN1 (Makorin Ring Finger Protein 1) is a Protein Coding gene. Diseases associated with MKRN1 include West Nile Virus. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. GO annotations related to this gene include poly(A) RNA binding and ligase activity. An important paralog of this gene is MKRN3.

UniProtKB/Swiss-Prot for MKRN1 Gene

  • E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription.

Additional gene information for MKRN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKRN1 Gene

Genomics for MKRN1 Gene

Regulatory Elements for MKRN1 Gene

Enhancers for MKRN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H140476 1.4 ENCODE dbSUPER 7.8 +1.2 1179 3 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A YY1 SLC30A9 ZNF143 BRAF SLC37A3 MKRN1 GC07M140466
GH07H140512 1 ENCODE dbSUPER 5.4 -33.0 -32968 0 HDGF PKNOX1 KLF1 NFIB CTBP1 ZBTB48 PATZ1 SCRT2 ZNF600 PRDM10 NDUFB2 NDUFB2-AS1 MKRN1 ENSG00000201354
GH07H140454 0.6 ENCODE 7.8 +23.6 23608 2 SOX5 SOX13 MAX USF2 CEBPG FOXM1 HNF1A POLR2A POU5F1 MKRN1 LOC642355 GC07M140466
GH07H140509 0.5 dbSUPER 5.5 -30.5 -30544 1 ZNF121 CTBP1 ZNF687 ZBTB33 MLLT1 NDUFB2 NDUFB2-AS1 MKRN1 ENSG00000201354
GH07H140447 0.2 ENCODE 8 +30.7 30665 2 MKRN1 LOC642355 GC07M140466
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MKRN1 on UCSC Golden Path with GeneCards custom track

Promoters for MKRN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219083 769 2401 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A YY1 SLC30A9 ZNF143

Genomic Location for MKRN1 Gene

Chromosome:
7
Start:
140,453,040 bp from pter
End:
140,479,569 bp from pter
Size:
26,530 bases
Orientation:
Minus strand

Genomic View for MKRN1 Gene

Genes around MKRN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKRN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MKRN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKRN1 Gene

Proteins for MKRN1 Gene

  • Protein details for MKRN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHC7-MKRN1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase makorin-1
    Protein Accession:
    Q9UHC7
    Secondary Accessions:
    • A4D1T7
    • B3KXB4
    • Q256Y7
    • Q59G11
    • Q6GSF1
    • Q9H0G0
    • Q9UEZ7
    • Q9UHW2

    Protein attributes for MKRN1 Gene

    Size:
    482 amino acids
    Molecular mass:
    53349 Da
    Quaternary structure:
    • Interacts with p53/TP53 and CDKN1A. Interacts with TERT, modulating telomere length homeostasis.

    Alternative splice isoforms for MKRN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MKRN1 Gene

Post-translational modifications for MKRN1 Gene

  • Auto-ubiquitinated; which leads to proteasomal degradation.
  • Ubiquitination at Lys265, posLast=277277, and posLast=389389
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MKRN1 Gene

Domains & Families for MKRN1 Gene

Gene Families for MKRN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MKRN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MKRN1: view

No data available for UniProtKB/Swiss-Prot for MKRN1 Gene

Function for MKRN1 Gene

Molecular function for MKRN1 Gene

GENATLAS Biochemistry:
makorin,ring finger protein,1,mediating ubiquitin-conjugating enzyme (E2)-dependent ubiquitination
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription.
UniProtKB/Swiss-Prot Induction:
Frequently induced in esophageal squamous cell carcinoma (SCC) tissues.

Enzyme Numbers (IUBMB) for MKRN1 Gene

Phenotypes From GWAS Catalog for MKRN1 Gene

Gene Ontology (GO) - Molecular Function for MKRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004842 ubiquitin-protein transferase activity IDA 19536131
GO:0005515 protein binding IPI 19536131
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MKRN1: view
genes like me logo Genes that share phenotypes with MKRN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MKRN1
  • Applied Biological Materials Clones for MKRN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MKRN1 Gene

Localization for MKRN1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKRN1 gene
Compartment Confidence
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MKRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MKRN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MKRN1 Gene

Pathways & Interactions for MKRN1 Gene

genes like me logo Genes that share pathways with MKRN1: view

UniProtKB/Swiss-Prot Q9UHC7-MKRN1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MKRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19536131
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MKRN1: view

No data available for SIGNOR curated interactions for MKRN1 Gene

Drugs & Compounds for MKRN1 Gene

No Compound Related Data Available

Transcripts for MKRN1 Gene

Unigene Clusters for MKRN1 Gene

Makorin ring finger protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MKRN1
  • Applied Biological Materials Clones for MKRN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MKRN1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: -
SP6: - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - -
SP10: -
SP11: - - - - - -
SP12: - -

ExUns: 14a · 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MKRN1 Gene

GeneLoc Exon Structure for
MKRN1
ECgene alternative splicing isoforms for
MKRN1

Expression for MKRN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MKRN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MKRN1 Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for MKRN1 Gene

This gene is overexpressed in Pancreas (18.1), Testis (13.0), Gallbladder (8.9), and Fetal testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MKRN1 Gene



Protein tissue co-expression partners for MKRN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MKRN1 Gene:

MKRN1

SOURCE GeneReport for Unigene cluster for MKRN1 Gene:

Hs.744883

mRNA Expression by UniProt/SwissProt for MKRN1 Gene:

Q9UHC7-MKRN1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MKRN1 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Adrenal gland(4.3)
  • Lung(3.3)
  • Eye(2.4)
  • Intestine(2.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with MKRN1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MKRN1 Gene

Orthologs for MKRN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MKRN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MKRN1 33 34
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
MKRN1 33
  • 92.99 (n)
-- 34
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mkrn1 33 16 34
  • 92.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 87 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MKRN1 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKRN1 33 34
  • 80.61 (n)
lizard
(Anolis carolinensis)
Reptilia MKRN1 34
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkrn1 33
  • 71.46 (n)
Str.7523 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16831 33
zebrafish
(Danio rerio)
Actinopterygii mkrn1 33
  • 69.21 (n)
mkrn4 34
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5334 35 33 34
  • 54.72 (n)
CG12477 35 34
  • 50 (a)
CG5347 35 34
  • 40 (a)
Mkrn1 35 34
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 33 34
  • 46.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for MKRN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MKRN1 Gene

ENSEMBL:
Gene Tree for MKRN1 (if available)
TreeFam:
Gene Tree for MKRN1 (if available)

Paralogs for MKRN1 Gene

Variants for MKRN1 Gene

Sequence variations from dbSNP and Humsavar for MKRN1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000004675 -- 140,453,545(+) ATTAA(A/C)TACAA nc-transcript-variant, utr-variant-3-prime
rs1000019984 -- 140,469,759(+) AATAC(-/AA)AAGTT intron-variant
rs1000190839 -- 140,474,371(+) CATGG(C/T)GGCAC intron-variant
rs1000252789 -- 140,462,760(+) GAGAT(C/T)GAGAC intron-variant
rs1000372779 -- 140,464,564(+) GCTGG(C/G)CATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MKRN1 Gene

Variant ID Type Subtype PubMed ID
dgv1966e212 CNV loss 25503493
esv2735242 CNV deletion 23290073
esv3572173 CNV loss 25503493
esv3615233 CNV loss 21293372
nsv5971 CNV insertion 18451855
nsv608500 CNV loss 21841781
nsv966896 CNV duplication 23825009
nsv981591 CNV duplication 23825009

Variation tolerance for MKRN1 Gene

Residual Variation Intolerance Score: 41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.19; 80.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MKRN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKRN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKRN1 Gene

Disorders for MKRN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MKRN1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
west nile virus
  • west-nile encephalitis
- elite association - COSMIC cancer census association via MalaCards
Search MKRN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MKRN1

Genetic Association Database (GAD)
MKRN1
Human Genome Epidemiology (HuGE) Navigator
MKRN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MKRN1
genes like me logo Genes that share disorders with MKRN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MKRN1 Gene

Publications for MKRN1 Gene

  1. The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system. (PMID: 10843807) Gray TA … Nicholls RD (Genomics 2000) 2 3 4 22 60
  2. Identification of Makorin 1 as a novel SEREX antigen of esophageal squamous cell carcinoma. (PMID: 19604354) Shimada H … Hiwasa T (BMC cancer 2009) 3 4 22 60
  3. Differential regulation of p53 and p21 by MKRN1 E3 ligase controls cell cycle arrest and apoptosis. (PMID: 19536131) Lee EW … Song J (The EMBO journal 2009) 3 4 22 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Makorin RING finger protein 1 (MKRN1) has negative and positive effects on RNA polymerase II-dependent transcription. (PMID: 16785614) Omwancha J … Shemshedini L (Endocrine 2006) 3 4 60

Products for MKRN1 Gene

  • Addgene plasmids for MKRN1

Sources for MKRN1 Gene

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