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    MDN1 midasin AAA ATPase 1 [ Homo sapiens (human) ]

    Gene ID: 23195, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MDN1provided by HGNC
    Official Full Name
    midasin AAA ATPase 1provided by HGNC
    Primary source
    HGNC:HGNC:18302
    See related
    Ensembl:ENSG00000112159 MIM:618200; AllianceGenome:HGNC:18302
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Rea1
    Summary
    Predicted to enable ATP binding activity and ATP hydrolysis activity. Involved in ribosomal large subunit assembly. Located in cytosol; intermediate filament cytoskeleton; and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 5.6), testis (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MDN1 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    102
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89642498..89819794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (90851868..91029153, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (90352217..90529513, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 6 Neighboring gene uncharacterized LOC124901359 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:90319101-90319300 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:90347214-90348413 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:90367565-90368764 Neighboring gene MDN1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 852 Neighboring gene LYR motif containing 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90399309-90399858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90405104-90405604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90405605-90406105 Neighboring gene NANOG hESC enhancer GRCh37_chr6:90430881-90431382 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90509087-90509820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90510674-90511174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90511175-90511675 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:90526731-90527350 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:90527351-90527970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90527971-90528590 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90529211-90529830 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90529831-90530450 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24832 Neighboring gene PIMREG pseudogene 3 Neighboring gene caspase 8 associated protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression and genomic analysis of midasin, a novel and highly conserved AAA protein distantly related to dynein. Garbarino JE, et al. BMC Genomics, 2002 Jul 8. PMID 12102729, Free PMC Article
    2. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216
    3. CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma. Chuah YH, et al. Cell Death Differ, 2023 Aug. PMID 37468549, Free PMC Article
    4. The AAA ATPase MDN1 Acts as a SUMO-Targeted Regulator in Mammalian Pre-ribosome Remodeling. Raman N, et al. Mol Cell, 2016 Nov 3. PMID 27814492
    5. The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin. Romes EM, et al. J Biol Chem, 2016 Jan 8. PMID 26601951, Free PMC Article

    See all (127) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the crystal structure of the UBL domain of the WDR12 homologue from S. cerevisiae at 1.7 A resolution is reported and demonstrated that human midasin binds to WDR12 as well as Nle1 through their respective UBL domains.
      Title: The Crystal Structure of the Ubiquitin-like Domain of Ribosome Assembly Factor Ytm1 and Characterization of Its Interaction with the AAA-ATPase Midasin.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of MDN1, midasin homolog by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23395, FLJ25587, FLJ42031, FLJ43191, KIAA0301, DKFZp686H16106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ribosomal large subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal large subunit assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ribosomal large subunit export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    midasin
    Names
    MDN1, midasin homolog
    MIDAS-containing protein
    dynein-related AAA-ATPase MDN1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034012.1 RefSeqGene

      Range
      5001..182297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014611.3 → NP_055426.1  midasin

      See identical proteins and their annotated locations for NP_055426.1

      Status: VALIDATED

      Source sequence(s)
      AF503925, AK027048, AL096678, BC036888, BP360573
      Consensus CDS
      CCDS5024.1
      UniProtKB/Swiss-Prot
      O15019, Q5T794, Q9NU22
      Related
      ENSP00000358400.3, ENST00000369393.8
      Conserved Domains (7) summary
      cd00009
      Location:659 → 780
      AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
      smart00382
      Location:1383 → 1540
      AAA; ATPases associated with a variety of cellular activities
      COG0714
      Location:1736 → 1923
      MoxR; MoxR-like ATPase [General function prediction only]
      cd01460
      Location:5323 → 5593
      vWA_midasin; VWA_Midasin: Midasin is a member of the AAA ATPase family. The proteins of this family are unified by their common archetectural organization that is based upon a conserved ATPase domain. The AAA domain of midasin contains six tandem AAA protomers. The ...
      pfam03247
      Location:4912 → 5020
      Prothymosin; Prothymosin/parathymosin family
      pfam07728
      Location:1385 → 1540
      AAA_5; AAA domain (dynein-related subfamily)
      cl21455
      Location:1079 → 1215
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      89642498..89819794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017363815.1 Reference GRCh38.p14 PATCHES

      Range
      14838..15139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      90851868..91029153 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NU22.2 GenPept UniProtKB/Swiss-Prot:Q9NU22

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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