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 pr... See more...

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
  • E3 Ubiquitin-Protein Ligase Makorin-1 3 4
  • RING Finger Protein 61 3 4
  • RNF61 3 4
  • 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 and Pilocytic Astrocytoma Of Cerebellum. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is MKRN3.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MKRN1 Gene

Genomics for MKRN1 Gene

GeneHancer (GH) Regulatory Elements for MKRN1 Gene

Promoters and enhancers for MKRN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MKRN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MKRN1

Top Transcription factor binding sites by QIAGEN in the MKRN1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GATA-1
  • HNF-4alpha2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MKRN1 Gene

Genomic Locations for MKRN1 Gene
chr7:140,453,033-140,479,569
(GRCh38/hg38)
Size:
26,537 bases
Orientation:
Minus strand
chr7:140,152,840-140,179,369
(GRCh37/hg19)
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, Lys277, and Lys389
  • 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):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for MKRN1 Gene

Blocks:
  • Zn-finger, RING
  • Zn-finger, C-x8-C-x5-C-x3-H type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MKRN1 Gene

GenScript: Design optimal peptide antigens:
  • MKRN1 protein (A1L0W6_HUMAN)
  • RING finger protein 61 (MKRN1_HUMAN)
genes like me logo Genes that share domains with MKRN1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MKRN1 Gene

Function for MKRN1 Gene

Molecular function for MKRN1 Gene

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 CatalyticActivity:
Reaction=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.; EC=2.3.2.27;.
UniProtKB/Swiss-Prot Induction:
Frequently induced in esophageal squamous cell carcinoma (SCC) tissues.
GENATLAS Biochemistry:
makorin,ring finger protein,1,mediating ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

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 HDA 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

Clone Products

  • Addgene plasmids for MKRN1

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
cytosol 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (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

mRNA/cDNA for MKRN1 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MKRN1

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

Expression for MKRN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MKRN1 Gene



Protein tissue co-expression partners for MKRN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
OneToMany
-- 31
  • 94 (a)
OneToMany
MKRN1 30
  • 92.99 (n)
-- 31
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mkrn1 17 31 30
  • 92.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MKRN1 31
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKRN1 31 30
  • 80.61 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MKRN1 31
  • 30 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mkrn1 30
  • 71.46 (n)
Str.7523 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16831 30
zebrafish
(Danio rerio)
Actinopterygii mkrn1 30 30
  • 69.21 (n)
mkrn4 31
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5334 31 32 30
  • 54.72 (n)
ManyToMany
CG5347 31 32
  • 45 (a)
ManyToMany
Mkrn1 31 32
  • 37 (a)
ManyToMany
CG12477 31 32
  • 35 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 31 30
  • 46.22 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MKRN1: view image

Paralogs for MKRN1 Gene

Paralogs for MKRN1 Gene

(35) SIMAP similar genes for MKRN1 Gene using alignment to 13 proteins:

  • MKRN1_HUMAN
  • A1L0W6_HUMAN
  • C9IY57_HUMAN
  • C9IZP5_HUMAN
  • C9J031_HUMAN
  • C9JYI0_HUMAN
  • C9JYX8_HUMAN
  • F5H0I9_HUMAN
  • F8WAS8_HUMAN
  • F8WBJ4_HUMAN
  • F8WEY8_HUMAN
  • H7C4H5_HUMAN
  • H7C588_HUMAN
genes like me logo Genes that share paralogs with MKRN1: view

Variants for MKRN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MKRN1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1062786 - p.Val439Ala
rs2272095 - p.Val243Leu

Additional dbSNP identifiers (rs#s) for MKRN1 Gene

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)

Additional Variant Information for MKRN1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MKRN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MKRN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
west nile virus
  • west nile virus, susceptibility to
pilocytic astrocytoma of cerebellum
  • cerebellar pilocytic astrocytoma
cerebellar astrocytoma
  • astrocytoma of cerebellum
- elite association - COSMIC cancer census association via MalaCards
Search MKRN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MKRN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 54
  2. 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 23 54
  3. 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 23 54
  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 41 54
  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 54

Products for MKRN1 Gene

Sources for MKRN1 Gene