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    MIDN midnolin [ Homo sapiens (human) ]

    Gene ID: 90007, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MIDNprovided by HGNC
    Official Full Name
    midnolinprovided by HGNC
    Primary source
    HGNC:HGNC:16298
    See related
    Ensembl:ENSG00000167470 MIM:606700; AllianceGenome:HGNC:16298
    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
    Stx
    Summary
    Enables molecular adaptor activity. Involved in proteasomal ubiquitin-independent protein catabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 27.5), gall bladder (RPKM 18.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIDN in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1248583..1259143)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1217106..1227667)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1248582..1259142)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9673 Neighboring gene ATP synthase F1 subunit delta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1245978-1246723 Neighboring gene uncharacterized LOC102723811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1248659-1249192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1251037-1251976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9690 Neighboring gene IQ motif and SEC7 domain-containing protein 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13604 Neighboring gene uncharacterized LOC105372236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9692 Neighboring gene CIRBP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9695 Neighboring gene cold inducible RNA binding protein

    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
    • 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. Structural Variants of Midnolin, a Genetic Risk Factor for Parkinson's Disease, in a Yamagata Cohort. Sato H, et al. Biol Pharm Bull, 2023. PMID 36858566
    2. Midnolin is a confirmed genetic risk factor for Parkinson's disease. Obara Y, et al. Ann Clin Transl Neurol, 2019 Nov. PMID 31588691, Free PMC Article
    3. Novel nucleolar protein, midnolin, is expressed in the mesencephalon during mouse development. Tsukahara M, et al. Gene, 2000 Aug 22. PMID 10974535
    4. Midnolin is a novel regulator of parkin expression and is associated with Parkinson's Disease. Obara Y, et al. Sci Rep, 2017 Jul 19. PMID 28724963, Free PMC Article
    5. Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner. Hofmeister-Brix A, et al. J Biol Chem, 2013 Dec 13. PMID 24187134, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation.
      Title: The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation.
    2. Structural Variants of Midnolin, a Genetic Risk Factor for Parkinson's Disease, in a Yamagata Cohort.
      Title: Structural Variants of Midnolin, a Genetic Risk Factor for Parkinson's Disease, in a Yamagata Cohort.
    3. Midnolin is a confirmed genetic risk factor for Parkinson's disease.
      Title: Midnolin is a confirmed genetic risk factor for Parkinson's disease.
    4. MIDN promotes the expression of parkin E3 ubiquitin ligase, and that MIDN loss can trigger Parkinson's disease-related pathogenic mechanisms.
      Title: Midnolin is a novel regulator of parkin expression and is associated with Parkinson's Disease.
    5. midnolin plays a role in cellular signaling of adult tissues and regulates glucokinase enzyme activity in pancreatic beta cells
      Title: Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp547M072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of glucokinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in proteasomal ubiquitin-independent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    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 

    General protein information

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    Preferred Names
    midnolin
    Names
    midbrain nucleolar protein
    stuxnet homolog

    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.

    mRNA and Protein(s)

    1. NM_001388306.1 → NP_001375235.1  midnolin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC004221
      Consensus CDS
      CCDS92478.1
      UniProtKB/TrEMBL
      A0A804HKJ8
      Related
      ENSP00000507955.1, ENST00000682408.1
      Conserved Domains (1) summary
      cd01804
      Location:31 → 100
      Ubl_midnolin; ubiquitin-like (Ubl) domain found in midnolin and similar proteins

    2. NM_001388307.1 → NP_001375236.1  midnolin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC004221
      Conserved Domains (1) summary
      cd01804
      Location:31 → 100
      Ubl_midnolin; ubiquitin-like (Ubl) domain found in midnolin and similar proteins

    3. NM_001388474.1 → NP_001375403.1  midnolin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004221
      Consensus CDS
      CCDS32864.1
      UniProtKB/Swiss-Prot
      Q504T8, Q96BW8
      Related
      ENSP00000467679.1, ENST00000591446.7
      Conserved Domains (1) summary
      cd01804
      Location:31 → 100
      Ubl_midnolin; ubiquitin-like (Ubl) domain found in midnolin and similar proteins

    4. NM_177401.5 → NP_796375.3  midnolin isoform 2

      See identical proteins and their annotated locations for NP_796375.3

      Status: VALIDATED

      Source sequence(s)
      AA421908, AL512725, BC015089, BC060848, BM966744
      Consensus CDS
      CCDS32864.1
      UniProtKB/Swiss-Prot
      Q504T8, Q96BW8
      Related
      ENSP00000300952.2, ENST00000300952.7
      Conserved Domains (1) summary
      cd01804
      Location:31 → 100
      Ubl_midnolin; ubiquitin-like (Ubl) domain found in midnolin and similar proteins

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1248583..1259143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259672.4 → XP_005259729.1  midnolin isoform X1

      Conserved Domains (1) summary
      cd01804
      Location:31 → 100
      Ubl_midnolin; ubiquitin-like (Ubl) domain found in midnolin and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1217106..1227667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322499.1 → XP_054178474.1  midnolin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q504T8.2 GenPept UniProtKB/Swiss-Prot:Q504T8

    Gene LinkOut

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

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