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Aliases for MKRN1 Gene

Aliases for MKRN1 Gene

  • Makorin Ring Finger Protein 1 2 3
  • RING Finger Protein 61 3 4
  • RNF61 3 4
  • E3 Ubiquitin-Protein Ligase Makorin-1 3
  • EC 6.3.2.- 4

External Ids for MKRN1 Gene

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. Among its related pathways are Class I MHC mediated antigen processing and presentation and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include chromatin binding and ligase activity. An important paralog of this gene is MKRN2.

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.

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

Genomics for MKRN1 Gene

Genomic Location for MKRN1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MKRN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKRN1 Gene

Regulatory Elements 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

Proteomics data for MKRN1 Gene at MOPED

Post-translational modifications for MKRN1 Gene

  • Auto-ubiquitinated; which leads to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys113, Lys265, Lys277, Lys368, and Lys389

No data available for DME Specific Peptides for MKRN1 Gene

Domains for MKRN1 Gene

Gene Families for MKRN1 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Suggested Antigen Peptide Sequences for MKRN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHC7

UniProtKB/Swiss-Prot:

MKRN1_HUMAN
Similarity:
  • Contains 4 C3H1-type zinc fingers.:
    • Q9UHC7
  • Contains 1 RING-type zinc finger.:
    • Q9UHC7
genes like me logo Genes that share domains with MKRN1: view

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 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

Gene Ontology (GO) - Molecular Function for MKRN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0004842 ubiquitin-protein transferase activity IDA 19536131
GO:0005515 protein binding IPI 19536131
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MKRN1: view

Phenotypes for MKRN1 Gene

MGI mutant phenotypes for MKRN1:
inferred from 1 alleles
GenomeRNAi human phenotypes for MKRN1:
genes like me logo Genes that share phenotypes with MKRN1: view

miRNA for MKRN1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MKRN1 Gene

Localization for MKRN1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MKRN1 Gene COMPARTMENTS Subcellular localization image for MKRN1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for MKRN1 Gene

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

Transcripts for MKRN1 Gene

Unigene Clusters for MKRN1 Gene

Makorin ring finger protein 1:
Representative Sequences:

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 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 (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MKRN1 Gene

SOURCE GeneReport for Unigene cluster for MKRN1 Gene Hs.744883

mRNA Expression by UniProt/SwissProt for MKRN1 Gene

Q9UHC7-MKRN1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with MKRN1: view

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 35
  • 99.59 (n)
  • 99.59 (a)
MKRN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
MKRN1 35
  • 92.99 (n)
  • 94.69 (a)
mouse
(Mus musculus)
Mammalia Mkrn1 35
  • 92.68 (n)
  • 94.68 (a)
Mkrn1 16
Mkrn1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 87 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MKRN1 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKRN1 35
  • 80.61 (n)
  • 82.65 (a)
MKRN1 36
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MKRN1 36
  • 30 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16831 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mkrn1 35
  • 71.46 (n)
  • 76.26 (a)
Str.7523 35
zebrafish
(Danio rerio)
Actinopterygii mkrn1 35
  • 69.21 (n)
  • 69.52 (a)
mkrn4 36
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12477 36
  • 35 (a)
ManyToMany
CG5334 35
  • 54.72 (n)
  • 47.98 (a)
CG5334 36
  • 44 (a)
ManyToMany
CG5347 36
  • 45 (a)
ManyToMany
Mkrn1 36
  • 37 (a)
ManyToMany
CG5334 37
  • 45 (a)
CG12477 37
  • 50 (a)
Mkrn1 37
  • 39 (a)
CG5347 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 35
  • 46.22 (n)
  • 40.26 (a)
Y55F3AM.6 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for MKRN1:
  • 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

Paralogs for MKRN1 Gene

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

Variants for MKRN1 Gene

Sequence variations from dbSNP and Humsavar for MKRN1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs14493 -- 140,453,162(+) TGGGT(A/G)GGATC utr-variant-3-prime, nc-transcript-variant
rs1043776 -- 140,459,833(-) TTGGA(A/C)CACTT missense, reference, intron-variant
rs1062758 -- 140,459,174(-) CAGAG(A/G)AAGAG reference, missense, intron-variant
rs1062759 -- 140,459,154(-) GTGGA(A/G)ACAAA synonymous-codon, reference, intron-variant
rs1062760 -- 140,459,117(-) TGGGA(C/G)AGTGC missense, reference, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5971 CNV Insertion 18451855
esv2735242 CNV Deletion 23290073

Relevant External Links for MKRN1 Gene

HapMap Linkage Disequilibrium report
MKRN1

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

Disorders for MKRN1 Gene

Relevant External Links for MKRN1

Genetic Association Database (GAD)
MKRN1
Human Genome Epidemiology (HuGE) Navigator
MKRN1
genes like me logo Genes that share disorders with MKRN1: view

No data available for UniProtKB/Swiss-Prot 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 T.A. … Nicholls R.D. (Genomics 2000) 2 3 4 23
  2. Differential regulation of p53 and p21 by MKRN1 E3 ligase controls cell cycle arrest and apoptosis. (PMID: 19536131) Lee E.-W. … Song J. (EMBO J. 2009) 3 4 23
  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
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for MKRN1 Gene

Sources for MKRN1 Gene

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