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Aliases for MDN1 Gene

Aliases for MDN1 Gene

  • Midasin AAA ATPase 1 2 3 5
  • MIDAS-Containing Protein 3 4
  • MDN1, Midasin Homolog (Yeast) 2
  • MDN1, Midasin Homolog 3
  • EC 2.4.2.18 61
  • EC 2.7.7.6 61
  • KIAA0301 4
  • EC 3.6.1 61
  • Midasin 3
  • Rea1 3

External Ids for MDN1 Gene

Previous GeneCards Identifiers for MDN1 Gene

  • GC06M090298
  • GC06M090348
  • GC06M090409
  • GC06M090352
  • GC06M087570

Summaries for MDN1 Gene

GeneCards Summary for MDN1 Gene

MDN1 (Midasin AAA ATPase 1) is a Protein Coding gene. Diseases associated with MDN1 include Bone Ewing's Sarcoma. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include binding and unfolded protein binding.

UniProtKB/Swiss-Prot for MDN1 Gene

  • Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits.

Gene Wiki entry for MDN1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDN1 Gene

Genomics for MDN1 Gene

Regulatory Elements for MDN1 Gene

Enhancers for MDN1 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
GH06G090214 2.6 Ensembl ENCODE dbSUPER 21.1 -390.0 -390040 6.2 FOXA2 PKNOX1 SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 SP3 REST MDN1 BACH2 CASP8AP2 LOC105377890
GH06G089745 0.6 ENCODE 17.9 +82.1 82052 0.7 BCOR PAF1 HDAC2 ADNP ZMYM3 KDM1A MDN1 LYRM2 LOC101929057 CASP8AP2 GC06M089745
GH06G089828 1.1 ENCODE 8.1 -2.0 -2035 2.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF143 CASP8AP2 MDN1 LYRM2 GC06P089840
GH06G089816 1.1 ENCODE 7.9 +9.0 8990 4.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 UBE2J1 MDN1 LYRM2 GC06P089820 GC06P089815
GH06G089689 1.3 Ensembl ENCODE dbSUPER 6.3 +137.7 137697 2.5 CHD7 ZIC2 ETS1 ZFHX2 EGR1 POLR2A SCRT2 ZNF600 MAFK EGR2 MDN1 LYRM2 GC06M089745
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MDN1 on UCSC Golden Path with GeneCards custom track

Promoters for MDN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199922 -1639 2001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZNF766 ZNF143

Genomic Location for MDN1 Gene

Chromosome:
6
Start:
89,642,499 bp from pter
End:
89,827,961 bp from pter
Size:
185,463 bases
Orientation:
Minus strand

Genomic View for MDN1 Gene

Genes around MDN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDN1 Gene

Proteins for MDN1 Gene

  • Protein details for MDN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NU22-MDN1_HUMAN
    Recommended name:
    Midasin
    Protein Accession:
    Q9NU22
    Secondary Accessions:
    • O15019
    • Q5T794

    Protein attributes for MDN1 Gene

    Size:
    5596 amino acids
    Molecular mass:
    632820 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MDN1 Gene

Selected DME Specific Peptides for MDN1 Gene

Q9NU22:
  • GDTGCGK
  • LDEISLA
  • PCRSSLV

Post-translational modifications for MDN1 Gene

  • Ubiquitination at posLast=100100, posLast=117117, posLast=366366, posLast=891891, Lys1234, Lys1266, Lys1695, Lys1940, Lys3056, Lys3513, posLast=41944194, posLast=42154215, and Lys5541
  • Modification sites at PhosphoSitePlus

Domains & Families for MDN1 Gene

Gene Families for MDN1 Gene

Suggested Antigen Peptide Sequences for MDN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NU22

UniProtKB/Swiss-Prot:

MDN1_HUMAN :
  • Belongs to the midasin family.
Family:
  • Belongs to the midasin family.
genes like me logo Genes that share domains with MDN1: view

Function for MDN1 Gene

Molecular function for MDN1 Gene

UniProtKB/Swiss-Prot Function:
Nuclear chaperone required for maturation and nuclear export of pre-60S ribosome subunits.

Enzyme Numbers (IUBMB) for MDN1 Gene

Gene Ontology (GO) - Molecular Function for MDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 21326211
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity NAS 12102729
GO:0051082 unfolded protein binding NAS 12102729
genes like me logo Genes that share ontologies with MDN1: view
genes like me logo Genes that share phenotypes with MDN1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MDN1 Gene

Localization for MDN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDN1 Gene

Nucleus. Nucleus, nucleolus.

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 MDN1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 3
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS,IDA 12102729
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IDA 19946888
GO:0030687 preribosome, large subunit precursor IBA --
genes like me logo Genes that share ontologies with MDN1: view

Pathways & Interactions for MDN1 Gene

genes like me logo Genes that share pathways with MDN1: view

Pathways by source for MDN1 Gene

1 KEGG pathway for MDN1 Gene

Gene Ontology (GO) - Biological Process for MDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA --
GO:0006364 rRNA processing IBA --
GO:0006461 protein complex assembly NAS 12102729
genes like me logo Genes that share ontologies with MDN1: view

No data available for SIGNOR curated interactions for MDN1 Gene

Drugs & Compounds for MDN1 Gene

No Compound Related Data Available

Transcripts for MDN1 Gene

Unigene Clusters for MDN1 Gene

MDN1, midasin homolog (yeast):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MDN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 49 ^ 50 ^ 51a · 51b ^ 52a · 52b ^ 53 ^ 54a · 54b ^ 55a · 55b ^ 56a · 56b ^ 57 ^ 58 ^ 59 ^ 60 ^ 61 ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 70a · 70b ^ 71a · 71b · 71c ^ 72a · 72b ^ 73a · 73b · 73c ^ 74 ^ 75a · 75b ^ 76 ^ 77 ^ 78 ^ 79 ^ 80 ^ 81 ^ 82 ^ 83 ^ 84 ^ 85 ^ 86 ^ 87a · 87b ·
SP1: - - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12: -
SP13:
SP14: - - -
SP15:
SP16:

Relevant External Links for MDN1 Gene

GeneLoc Exon Structure for
MDN1
ECgene alternative splicing isoforms for
MDN1

Expression for MDN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MDN1 Gene

Protein differential expression in normal tissues from HIPED for MDN1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (18.2) and Urine (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MDN1 Gene



Protein tissue co-expression partners for MDN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MDN1 Gene:

MDN1

SOURCE GeneReport for Unigene cluster for MDN1 Gene:

Hs.529948

Evidence on tissue expression from TISSUES for MDN1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with MDN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MDN1 Gene

Orthologs for MDN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MDN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MDN1 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia MDN1 34 35
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia MDN1 34 35
  • 87.22 (n)
mouse
(Mus musculus)
Mammalia Mdn1 34 16 35
  • 83.85 (n)
rat
(Rattus norvegicus)
Mammalia Mdn1 34
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia MDN1 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDN1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDN1 34 35
  • 69.85 (n)
lizard
(Anolis carolinensis)
Reptilia MDN1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdn1 34
  • 64.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25715 34
zebrafish
(Danio rerio)
Actinopterygii mdn1 34 35
  • 60.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13185 36 34 35
  • 47.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007388 34
  • 47.13 (n)
worm
(Caenorhabditis elegans)
Secernentea F55F10.1 36 35
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDN1 35 37
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1043 34
Species where no ortholog for MDN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 MDN1 Gene

ENSEMBL:
Gene Tree for MDN1 (if available)
TreeFam:
Gene Tree for MDN1 (if available)

Paralogs for MDN1 Gene

(1) SIMAP similar genes for MDN1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MDN1: view

No data available for Paralogs for MDN1 Gene

Variants for MDN1 Gene

Sequence variations from dbSNP and Humsavar for MDN1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs796052156 Likely benign 89,695,654(-) ACGCT(C/T)TGACC nc-transcript-variant, reference, missense
rs386352329 Uncertain significance 89,793,799(-) TGGTG(C/T)GGTGC nc-transcript-variant, reference, missense
rs1000003622 -- 89,684,391(+) GATTT(-/AAAAAAAAA)AAAAA intron-variant
rs1000014306 -- 89,746,863(+) ATCAC(A/G)AACAG intron-variant
rs1000033215 -- 89,812,327(+) CACCT(A/G)TAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MDN1 Gene

Variant ID Type Subtype PubMed ID
dgv6089n100 CNV gain 25217958
esv2677421 CNV deletion 23128226
esv3540124 CNV deletion 23714750
esv3609903 CNV gain 21293372
esv3609908 CNV loss 21293372
esv3890901 CNV gain 25118596
esv999488 CNV deletion 20482838
nsv478078 CNV novel sequence insertion 20440878
nsv604124 CNV loss 21841781
nsv604125 CNV gain 21841781
nsv981165 CNV duplication 23825009

Variation tolerance for MDN1 Gene

Residual Variation Intolerance Score: 4.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.90; 98.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MDN1 Gene

Human Gene Mutation Database (HGMD)
MDN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDN1 Gene

Disorders for MDN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MDN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bone ewing's sarcoma
  • bone ewing sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MDN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MDN1

Genetic Association Database (GAD)
MDN1
Human Genome Epidemiology (HuGE) Navigator
MDN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDN1
genes like me logo Genes that share disorders with MDN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MDN1 Gene

Publications for MDN1 Gene

  1. Expression and genomic analysis of midasin, a novel and highly conserved AAA protein distantly related to dynein. (PMID: 12102729) Garbarino J.E. … Gibbons I.R. (BMC Genomics 2002) 2 3 4 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4 64
  5. The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin. (PMID: 26601951) Romes E.M. … Stanley R.E. (J. Biol. Chem. 2016) 3 64

Products for MDN1 Gene

Sources for MDN1 Gene

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