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    Mdm1 MDM1 nuclear protein [ Mus musculus (house mouse) ]

    Gene ID: 17245, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Mdm1provided by MGI
    Official Full Name
    MDM1 nuclear proteinprovided by MGI
    Primary source
    MGI:MGI:96951
    See related
    Ensembl:ENSMUSG00000020212 AllianceGenome:MGI:96951
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Arrd2; Mdm-1
    Summary
    Predicted to enable microtubule binding activity. Acts upstream of or within photoreceptor cell maintenance and retina development in camera-type eye. Located in centriole; centrosome; and non-motile cilium. Is expressed in brain ependyma; retina inner nuclear layer; and retina outer nuclear layer. Used to study age related macular degeneration. Orthologous to human MDM1 (Mdm1 nuclear protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 15.4), testis adult (RPKM 13.5) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    10 D2; 10 66.65 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (117977446..118004904)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (118141540..118168999)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4933411E08 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:117385054-117385237 Neighboring gene STARR-positive B cell enhancer ABC_E2968 Neighboring gene STARR-seq mESC enhancer starr_28015 Neighboring gene predicted gene, 32663 Neighboring gene STARR-seq mESC enhancer starr_28016 Neighboring gene STARR-positive B cell enhancer ABC_E2969 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:117540267-117540559 Neighboring gene STARR-seq mESC enhancer starr_28018 Neighboring gene STARR-seq mESC enhancer starr_28021 Neighboring gene STARR-positive B cell enhancer ABC_E2341 Neighboring gene predicted gene, 40775 Neighboring gene interleukin 22

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells. Son Y, et al. Cell Death Dis, 2022 Sep 28. PMID 36171205, Free PMC Article
    2. Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Cahilly-Snyder L, et al. Somat Cell Mol Genet, 1987 May. PMID 3474784
    3. 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
    4. Tumorigenic potential associated with enhanced expression of a gene that is amplified in a mouse tumor cell line. Fakharzadeh SS, et al. EMBO J, 1991 Jun. PMID 2026149, Free PMC Article
    5. IL-TIF/IL-22: genomic organization and mapping of the human and mouse genes. Dumoutier L, et al. Genes Immun, 2000 Dec. PMID 11197690

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells.
      Title: Mdm1 ablation results in retinal degeneration by specific intraflagellar transport defects of photoreceptor cells.
    2. Depletion of the Mdm1 transcript may underlie the mechanism leading to late-onset progressive retinal degeneration in arrd2 mice.
      Title: Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene.
    3. Age-related retinal degeneration in mutants may be the result of depletion of the Mdm1 gene transcript.
      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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    Associated conditions

    Description Tests
    age-related retinal degeneration 2
    GeneReviews: Not available

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (1)  1 citation
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of centriole replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retina development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within retina development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    nuclear protein MDM1
    Names
    double minute 1
    mdm4 transformed 3T3 cell double minute 1 protein
    transformed mouse 3T3 cell 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_001162904.2 → NP_001156376.1  nuclear protein MDM1 isoform 3

      See identical proteins and their annotated locations for NP_001156376.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains two alternate in-frame exons in the coding region compared to variant 1. This results in a longer protein (isoform 3) compared to isoform 1.
      Source sequence(s)
      AC158804
      Consensus CDS
      CCDS48697.1
      UniProtKB/TrEMBL
      B2RPU6, B7SNM8
      Related
      ENSMUSP00000127919.2, ENSMUST00000163238.9
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 554
      MDM1; Nuclear protein MDM1

    2. NM_001162905.2 → NP_001156377.1  nuclear protein MDM1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and contains two alternate in-frame exons in the coding region compared to variant 1. This results in a shorter protein (isoform 4) compared to isoform 1.
      Source sequence(s)
      AC158804
      Consensus CDS
      CCDS48699.1
      UniProtKB/TrEMBL
      B7SNM9, E9Q0B1
      Related
      ENSMUSP00000126258.2, ENSMUST00000169817.3
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 509
      MDM1; Nuclear protein MDM1

    3. NM_001428583.1 → NP_001415512.1  nuclear protein MDM1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC158804

    4. NM_001428584.1 → NP_001415513.1  nuclear protein MDM1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC158804

    5. NM_001428585.1 → NP_001415514.1  nuclear protein MDM1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC158804

    6. NM_001428586.1 → NP_001415515.1  nuclear protein MDM1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC158804

    7. NM_001428587.1 → NP_001415516.1  nuclear protein MDM1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC158804

    8. NM_001428588.1 → NP_001415517.1  nuclear protein MDM1 isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 11 and 12, encodes isoform 10.
      Source sequence(s)
      AC158804

    9. NM_001428589.1 → NP_001415518.1  nuclear protein MDM1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC158804

    10. NM_001428590.1 → NP_001415519.1  nuclear protein MDM1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC158804

    11. NM_001428591.1 → NP_001415520.1  nuclear protein MDM1 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC158804

    12. NM_001428592.1 → NP_001415521.1  nuclear protein MDM1 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC158804

    13. NM_001428593.1 → NP_001415522.1  nuclear protein MDM1 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC158804

    14. NM_010785.3 → NP_034915.2  nuclear protein MDM1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC158804
      Consensus CDS
      CCDS48698.1
      UniProtKB/TrEMBL
      B7SNM8, E9PW14
      Related
      ENSMUSP00000132966.2, ENSMUST00000164077.9
      Conserved Domains (2) summary
      pfam15501
      Location:9 → 544
      MDM1; Nuclear protein MDM1
      cl00087
      Location:317 → 364
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

    15. NM_148922.4 → NP_683724.2  nuclear protein MDM1 isoform 2

      See identical proteins and their annotated locations for NP_683724.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 3' end of the coding region compared to variant 1. This results in a longer protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AC158804
      Consensus CDS
      CCDS36069.1
      UniProtKB/Swiss-Prot
      Q61841, Q61842, Q9D067, Q9DBR6
      UniProtKB/TrEMBL
      B7SNM8
      Related
      ENSMUSP00000020437.6, ENSMUST00000020437.13
      Conserved Domains (2) summary
      pfam15501
      Location:9 → 544
      MDM1; Nuclear protein MDM1
      cl00087
      Location:317 → 364
      HR1; Protein kinase C-related kinase homology region 1 (HR1) domain that binds Rho family small GTPases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      117977446..118004904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513305.4 → XP_006513368.1  nuclear protein MDM1 isoform X1

      UniProtKB/TrEMBL
      B7SNM8
      Conserved Domains (1) summary
      pfam15501
      Location:5 → 550
      MDM1; Nuclear protein MDM1

    2. XM_006513307.1 → XP_006513370.1  nuclear protein MDM1 isoform X3

      UniProtKB/TrEMBL
      B7SNM8
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 554
      MDM1; Nuclear protein MDM1

    3. XM_006513306.1 → XP_006513369.1  nuclear protein MDM1 isoform X2

      Conserved Domains (1) summary
      pfam15501
      Location:9 → 543
      MDM1; Nuclear protein MDM1

    4. XM_030244929.1 → XP_030100789.1  nuclear protein MDM1 isoform X4

      Conserved Domains (1) summary
      pfam15501
      Location:9 → 533
      MDM1; Nuclear protein MDM1

    5. XM_036155656.1 → XP_036011549.1  nuclear protein MDM1 isoform X7

      UniProtKB/TrEMBL
      B7SNM9
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 509
      MDM1; Nuclear protein MDM1

    6. XM_030244930.1 → XP_030100790.1  nuclear protein MDM1 isoform X5

      Conserved Domains (1) summary
      pfam15501
      Location:9 → 499
      MDM1; Nuclear protein MDM1

    7. XM_036155657.1 → XP_036011550.1  nuclear protein MDM1 isoform X8

      UniProtKB/TrEMBL
      B7SNM9
      Conserved Domains (1) summary
      pfam15501
      Location:9 → 499
      MDM1; Nuclear protein MDM1

    8. XM_006513308.1 → XP_006513371.1  nuclear protein MDM1 isoform X6

      Conserved Domains (1) summary
      pfam15501
      Location:9 → 498
      MDM1; Nuclear protein MDM1

    9. XM_030244931.1 → XP_030100791.1  nuclear protein MDM1 isoform X9

      Conserved Domains (1) summary
      pfam15501
      Location:9 → 498
      MDM1; Nuclear protein MDM1

    10. XM_030244932.2 → XP_030100792.1  nuclear protein MDM1 isoform X10

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 290
      MDM1; Nuclear protein MDM1

    11. XM_006513309.3 → XP_006513372.1  nuclear protein MDM1 isoform X10

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 290
      MDM1; Nuclear protein MDM1

    12. XM_036155659.1 → XP_036011552.1  nuclear protein MDM1 isoform X10

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 290
      MDM1; Nuclear protein MDM1

    13. XM_030244933.2 → XP_030100793.1  nuclear protein MDM1 isoform X10

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 290
      MDM1; Nuclear protein MDM1

    14. XM_036155660.1 → XP_036011553.1  nuclear protein MDM1 isoform X11

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 280
      MDM1; Nuclear protein MDM1

    15. XM_030244934.1 → XP_030100794.1  nuclear protein MDM1 isoform X11

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 280
      MDM1; Nuclear protein MDM1

    16. XM_030244936.1 → XP_030100796.1  nuclear protein MDM1 isoform X11

      Conserved Domains (1) summary
      pfam15501
      Location:6 → 280
      MDM1; Nuclear protein MDM1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D067.2 GenPept UniProtKB/Swiss-Prot:Q9D067

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