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    MDM1 Mdm1 nuclear protein [ Homo sapiens (human) ]

    Gene ID: 56890, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MDM1provided by HGNC
    Official Full Name
    Mdm1 nuclear proteinprovided by HGNC
    Primary source
    HGNC:HGNC:29917
    See related
    Ensembl:ENSG00000111554 MIM:613813; AllianceGenome:HGNC:29917
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a microtubule-binding nuclear protein that localizes to the centrioles of dividing cells and differentiating multiciliated cells and negatively regulates centriole duplication. The encoded protein is closely associated with the centriole barrel, and resides in the centriole lumen. Naturally-occurring mutations in the orthologous mouse gene are associated with age-related retinal degeneration. [provided by RefSeq, Feb 2019]
    Expression
    Broad expression in testis (RPKM 7.9), endometrium (RPKM 4.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MDM1 in Genome Data Viewer
    Location:
    12q15
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68294566..68332362, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68274117..68311913, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (68688346..68726142, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369818 Neighboring gene interleukin 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6633 Neighboring gene interleukin 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6634 Neighboring gene uncharacterized LOC105369819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4646 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:68752044-68752555 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:68758482-68759004 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:68759005-68759526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6636 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:68795808-68797007 Neighboring gene long intergenic non-protein coding RNA 2384 Neighboring gene Sharpr-MPRA regulatory region 8569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6637

    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. Combined expressional analysis, bioinformatics and targeted proteomics identify new potential therapeutic targets in glioblastoma stem cells. Stangeland B, et al. Oncotarget, 2015 Sep 22. PMID 26295306, Free PMC Article
    2. A gene amplified in a transformed mouse cell line undergoes complex transcriptional processing and encodes a nuclear protein. Snyder LC, et al. J Biol Chem, 1988 Nov 15. PMID 3182840
    3. Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. Chang B, et al. Hum Mol Genet, 2008 Dec 15. PMID 18805803, Free PMC Article
    4. MDM1 is a microtubule-binding protein that negatively regulates centriole duplication. Van de Mark D, et al. Mol Biol Cell, 2015 Nov 1. PMID 26337392, Free PMC Article
    5. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. Greenwood TA, et al. Biol Psychiatry, 2012 Aug 15. PMID 22365631, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Authorse propose that MDM1 is a negative regulator of centriole duplication and that its function is mediated through microtubule binding.
      Title: MDM1 is a microtubule-binding protein that negatively regulates centriole duplication.
    2. Not associated with age-related retinal degeneration.
      Title: Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    EBI GWAS Catalog

    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

    • FLJ95264

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of centriole replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retina development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nuclear protein MDM1
    Names
    Mdm4, transformed 3T3 cell double minute 1, p53 binding protein
    nuclear protein double minute 1

    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_001205028.3 → NP_001191957.1  nuclear protein MDM1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AF267851, AK026745, AK297311, BM787113
      Consensus CDS
      CCDS55841.1
      UniProtKB/Swiss-Prot
      Q8TC05
      Related
      ENSP00000391006.2, ENST00000411698.6
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 513
      MDM1; Nuclear protein MDM1

    2. NM_001205029.3 → NP_001191958.1  nuclear protein MDM1 isoform 3

      See identical proteins and their annotated locations for NP_001191958.1

      Status: REVIEWED

      Source sequence(s)
      AC022511, BC010622, BM787113, DA958566
      Consensus CDS
      CCDS55842.1
      UniProtKB/Swiss-Prot
      Q8TC05
      Related
      ENSP00000377175.3, ENST00000393543.7
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 45
      MDM1; Nuclear protein MDM1

    3. NM_001354969.2 → NP_001341898.1  nuclear protein MDM1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC022511, AK026745
      Consensus CDS
      CCDS91723.1
      UniProtKB/TrEMBL
      A0A804HIJ5
      Related
      ENSP00000507100.1, ENST00000682720.1
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 558
      MDM1; Nuclear protein MDM1

    4. NM_001354970.2 → NP_001341899.1  nuclear protein MDM1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC022511, AK026745
      Conserved Domains (1) summary
      pfam15501
      Location:4 → 508
      MDM1; Nuclear protein MDM1

    5. NM_001354971.2 → NP_001341900.1  nuclear protein MDM1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022511, AK026745
      Conserved Domains (1) summary
      pfam15501
      Location:1 → 278
      MDM1; Nuclear protein MDM1

    6. NM_001354972.2 → NP_001341901.1  nuclear protein MDM1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022511, AK026745
      Conserved Domains (1) summary
      pfam15501
      Location:1 → 278
      MDM1; Nuclear protein MDM1

    7. NM_001354973.2 → NP_001341902.1  nuclear protein MDM1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022511, AK026745
      Conserved Domains (1) summary
      pfam15501
      Location:1 → 278
      MDM1; Nuclear protein MDM1

    8. NM_001354974.2 → NP_001341903.1  nuclear protein MDM1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC022511, AK026745, BC034945
      Conserved Domains (1) summary
      pfam15501
      Location:1 → 268
      MDM1; Nuclear protein MDM1

    9. NM_001368282.1 → NP_001355211.1  nuclear protein MDM1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022511

    10. NM_017440.6 → NP_059136.2  nuclear protein MDM1 isoform 1

      See identical proteins and their annotated locations for NP_059136.2

      Status: REVIEWED

      Source sequence(s)
      AK026745, AK314461, BC010622, BC028355, CD704611
      Consensus CDS
      CCDS8983.1
      UniProtKB/Swiss-Prot
      B4DM65, E7EPQ3, O43406, Q8TC05, Q8WTV9, Q9NR04
      Related
      ENSP00000302537.7, ENST00000303145.11
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 548
      MDM1; Nuclear protein MDM1

    11. NM_020128.4 → NP_064513.1  nuclear protein MDM1 isoform 2

      See identical proteins and their annotated locations for NP_064513.1

      Status: REVIEWED

      Source sequence(s)
      AC022511, AF267851, BC010622, BM787113
      Consensus CDS
      CCDS44938.1
      UniProtKB/TrEMBL
      B2RB22
      Related
      ENSP00000408694.2, ENST00000430606.3
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 168
      MDM1; Nuclear protein MDM1

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      68294566..68332362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429161.1 → XP_047285117.1  nuclear protein MDM1 isoform X3

    2. XM_047429160.1 → XP_047285116.1  nuclear protein MDM1 isoform X1

    3. XM_047429163.1 → XP_047285119.1  nuclear protein MDM1 isoform X5

    4. XM_047429162.1 → XP_047285118.1  nuclear protein MDM1 isoform X4

    5. XM_011538569.2 → XP_011536871.1  nuclear protein MDM1 isoform X2

      Conserved Domains (1) summary
      pfam15501
      Location:9 → 558
      MDM1; Nuclear protein MDM1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      68274117..68311913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372570.1 → XP_054228545.1  nuclear protein MDM1 isoform X3

    2. XM_054372568.1 → XP_054228543.1  nuclear protein MDM1 isoform X1

    3. XM_054372572.1 → XP_054228547.1  nuclear protein MDM1 isoform X5

    4. XM_054372571.1 → XP_054228546.1  nuclear protein MDM1 isoform X4

    5. XM_054372569.1 → XP_054228544.1  nuclear protein MDM1 isoform X2

    RNA

    1. XR_008488642.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC05.2 GenPept UniProtKB/Swiss-Prot:Q8TC05

    Gene LinkOut

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

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