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Aliases for MDN1 Gene

Aliases for MDN1 Gene

  • Midasin AAA ATPase 1 2 3 5
  • Dynein-Related AAA-ATPase MDN1 3 4
  • MIDAS-Containing Protein 3 4
  • MDN1, Midasin Homolog (Yeast) 2
  • MDN1, Midasin Homolog 3
  • EC 2.4.2.18 56
  • EC 2.7.7.6 56
  • KIAA0301 4
  • EC 3.6.1 56
  • 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. Gene Ontology (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 (PubMed:27814492). Functions at successive maturation steps to remove ribosomal factors at critical transition points, first driving the exit of early pre-60S particles from the nucleolus and then driving late pre-60S particles from the nucleus (By similarity). At an early stage in 60S maturation, mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from early pre-60S particles, rendering them competent for export from the nucleolus to the nucleoplasm (By similarity). Subsequently recruited to the nucleoplasmic particles through interaction with SUMO-conjugated PELP1 complex (PubMed:27814492). This binding is only possible if the 5S RNP at the central protuberance has undergone the rotation to complete its maturation (By similarity).

Gene Wiki entry for MDN1 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MDN1 Gene

Promoters and enhancers for MDN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I089816 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 566.9 +9.0 8990 4.1 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 MDN1 GC06P089820 LYRM2 UBE2J1 GC06P089815 GC06M089727
GH06I090214 Enhancer 1.8 UCNEbase Ensembl ENCODE dbSUPER 40.4 -390.0 -390040 6.2 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF213 FOS SP3 ZNF662 MAP3K7 MDN1 CASP8AP2 BACH2 ANKRD6 LOC105377890
GH06I090367 Enhancer 1.5 FANTOM5 Ensembl ENCODE 21.7 -541.5 -541548 3.5 PKNOX1 ARNT NEUROD1 SIN3A FEZF1 ZNF2 IRF4 ZNF766 ZNF213 ZNF143 GC06P090371 MAP3K7 CASP8AP2 MDN1 GC06M090369 LOC105377891 GC06M090337
GH06I089637 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.7 +189.2 189211 2.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF207 LYRM2 LOC101929057 MDN1
GH06I089345 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 +477.7 477705 8.6 HDGF PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 SLC30A9 POLR2B UBE2J1 CASP8AP2 SRSF12 RRAGD GABRR2 TUBB3P1 MDN1 PNRC1 ANKRD6 RNGTT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MDN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MDN1 gene promoter:

Genomic Locations for MDN1 Gene

Genomic Locations for MDN1 Gene
chr6:89,642,499-89,827,961
(GRCh38/hg38)
Size:
185,463 bases
Orientation:
Minus strand
chr6:90,352,218-90,529,442
(GRCh37/hg19)

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:
    • Associates with pre-60S ribosomes in the nucleoplasm. Interacts (via its hexameric AAA ATPase ring) with the PELP1 complex (via PELP1); the interaction is regulated by SUMO conjugation of PELP1 and is crucial for recruitment of MDN1 to the pre-ribosomal particle (PubMed:27814492). Interacts (via VWFA/MIDAS domain) with WDR12 (via UBL domain) (PubMed:26601951). Interacts (via VWFA/MIDAS domain) with NLE1 (via UBL domain) (PubMed:26601951).

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, isoforms=117, posLast=366366, posLast=891891, posLast=12341234, isoforms=1266, isoforms=1695, isoforms=1940, isoforms=3056, posLast=35133513, posLast=41944194, isoforms=4215, and posLast=55415541

Domains & Families for MDN1 Gene

Gene Families for MDN1 Gene

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

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 (PubMed:27814492). Functions at successive maturation steps to remove ribosomal factors at critical transition points, first driving the exit of early pre-60S particles from the nucleolus and then driving late pre-60S particles from the nucleus (By similarity). At an early stage in 60S maturation, mediates the dissociation of the PeBoW complex (PES1-BOP1-WDR12) from early pre-60S particles, rendering them competent for export from the nucleolus to the nucleoplasm (By similarity). Subsequently recruited to the nucleoplasmic particles through interaction with SUMO-conjugated PELP1 complex (PubMed:27814492). This binding is only possible if the 5S RNP at the central protuberance has undergone the rotation to complete its maturation (By similarity).

Enzyme Numbers (IUBMB) for MDN1 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA 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, nucleolus. Nucleus, nucleoplasm. Cytoplasm.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Cytosol (1)
  • Intermediate filaments (1)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,NAS 12102729
GO:0005654 nucleoplasm IEA --
GO:0005730 nucleolus IEA,IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
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:

CRISPR Products

Inhibitory RNA 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 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia MDN1 33 34
  • 89.14 (n)
cow
(Bos Taurus)
Mammalia MDN1 33 34
  • 87.22 (n)
mouse
(Mus musculus)
Mammalia Mdn1 33 16 34
  • 83.85 (n)
rat
(Rattus norvegicus)
Mammalia Mdn1 33
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia MDN1 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDN1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDN1 33 34
  • 69.85 (n)
lizard
(Anolis carolinensis)
Reptilia MDN1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdn1 33
  • 64.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25715 33
zebrafish
(Danio rerio)
Actinopterygii mdn1 33 34
  • 60.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13185 35 33 34
  • 47.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007388 33
  • 47.13 (n)
worm
(Caenorhabditis elegans)
Secernentea F55F10.1 35 34
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDN1 34 36
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1043 33
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 Variation AA Info Type
rs796052156 likely-benign, Long QT syndrome 89,695,654(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs386352329 uncertain-significance, not provided 89,793,799(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs16882046 benign, not specified 89,664,564(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs41273327 benign, not specified 89,674,555(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000014306 -- 89,746,863(-) A/G genic_upstream_transcript_variant, 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)

Additional Variant Information 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: HGMD and 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

Additional Disease Information for MDN1

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 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 JE … Gibbons IR (BMC genomics 2002) 2 3 4 58
  2. 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 EM … Stanley RE (The Journal of biological chemistry 2016) 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4 58

Products for MDN1 Gene

Sources for MDN1 Gene

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