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    Mdm4 transformed mouse 3T3 cell double minute 4 [ Mus musculus (house mouse) ]

    Gene ID: 17248, updated on 3-Nov-2018

    Summary

    Official Symbol
    Mdm4provided by MGI
    Official Full Name
    transformed mouse 3T3 cell double minute 4provided by MGI
    Primary source
    MGI:MGI:107934
    See related
    Ensembl:ENSMUSG00000054387 Vega:OTTMUSG00000049638
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mdmx; C85810; AA414968; AL023055; AU018793; AU021806; 4933417N07Rik
    Summary
    This gene encodes a protein that has been shown to negatively regulate the activity of the tumor suppressor protein p53. Homozygous knockout mice exhibit embryonic lethality as a result of p53-dependent apoptosis and cell cycle arrest. Amplification of this gene or overexpression of the encoded protein has been linked to a range of human cancers. A pseudogene has been identified on the X chromosome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 31.1), CNS E14 (RPKM 26.8) and 26 other tissues See more
    Orthologs

    Genomic context

    See Mdm4 in Genome Data Viewer
    Location:
    1 E4; 1 57.75 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (132986105..133030587, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (134886422..134921925, complement)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene leucine rich repeat protein 2, neuronal Neighboring gene predicted gene, 31159 Neighboring gene predicted gene, 38687 Neighboring gene predicted gene 29257 Neighboring gene predicted gene, 41953 Neighboring gene nuclear encoded tRNA lysine 26 (anticodon TTT) Neighboring gene nuclear encoded tRNA lysine 25 (anticodon TTT)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    atrial septum development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    atrioventricular valve morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    endocardial cushion morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    heart valve development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell cycle arrest IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of heart rate IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    ventricular septum development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    protein Mdm4
    Names
    double minute 4 protein
    mdm2-like p53-binding protein
    p53-binding protein Mdm4
    protein Mdmx

    NCBI Reference Sequences (RefSeq)

    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_001302801.1NP_001289730.1  protein Mdm4 isoform 1

      See identical proteins and their annotated locations for NP_001289730.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK017719, AK043359, AK046448, AK049576, AK083349, BC058680, CJ101093
      Consensus CDS
      CCDS78683.1
      UniProtKB/Swiss-Prot
      O35618
      UniProtKB/TrEMBL
      Q3UTC9
      Related
      ENSMUSP00000068661.6, OTTMUSP00000068376, ENSMUST00000067398.12, OTTMUST00000126454
      Conserved Domains (3) summary
      pfam00641
      Location:300329
      zf-RanBP; Zn-finger in Ran binding protein and others
      pfam13920
      Location:435482
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl02489
      Location:2677
      SWIB; SWIB/MDM2 domain
    2. NM_001302802.1NP_001289731.1  protein Mdm4 isoform 1

      See identical proteins and their annotated locations for NP_001289731.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC137948, AK043359, AK046448, AK083349, AK139529, BC058680
      Consensus CDS
      CCDS78683.1
      UniProtKB/Swiss-Prot
      O35618
      UniProtKB/TrEMBL
      Q3UTC9
      Conserved Domains (3) summary
      pfam00641
      Location:300329
      zf-RanBP; Zn-finger in Ran binding protein and others
      pfam13920
      Location:435482
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl02489
      Location:2677
      SWIB; SWIB/MDM2 domain
    3. NM_001302803.1NP_001289732.1  protein Mdm4 isoform 2

      See identical proteins and their annotated locations for NP_001289732.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter compared to isoform 1. Both variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AK017719, AK043359, AK046448, AK083349, BC058680, CJ101093
      Consensus CDS
      CCDS15290.1
      UniProtKB/Swiss-Prot
      O35618
      Related
      ENSMUSP00000140609.1, OTTMUSP00000068372, ENSMUST00000188090.6, OTTMUST00000126450
      Conserved Domains (3) summary
      pfam00641
      Location:299328
      zf-RanBP; Zn-finger in Ran binding protein and others
      pfam13920
      Location:434481
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl02489
      Location:2676
      SWIB; SWIB/MDM2 domain
    4. NM_001302804.1NP_001289733.1  protein Mdm4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK043359, AK046448, AK049576, AK083349, BC058680, CJ101093
      UniProtKB/Swiss-Prot
      O35618
      Conserved Domains (2) summary
      pfam00641
      Location:172201
      zf-RanBP; Zn-finger in Ran binding protein and others
      pfam13920
      Location:307354
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    5. NM_008575.4NP_032601.2  protein Mdm4 isoform 2

      See identical proteins and their annotated locations for NP_032601.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter compared to isoform 1. Both variants 3 and 4 encode the same isoform (2).
      Source sequence(s)
      AK043359, AK046448, AK083349, BC058680, CJ101093
      Consensus CDS
      CCDS15290.1
      UniProtKB/Swiss-Prot
      O35618
      Related
      ENSMUSP00000070411.3, OTTMUSP00000068373, ENSMUST00000067429.9, OTTMUST00000126451
      Conserved Domains (3) summary
      pfam00641
      Location:299328
      zf-RanBP; Zn-finger in Ran binding protein and others
      pfam13920
      Location:434481
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl02489
      Location:2676
      SWIB; SWIB/MDM2 domain

    RNA

    1. NR_126506.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (S) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). There is contradictory data on whether this variant produces a functional protein (PMIDs 10075736, 21541195, 24013503).
      Source sequence(s)
      AK043359, AK046448, AK049690, BC058680, CJ101093

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      132986105..133030587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529233.2XP_006529296.1  protein Mdm4 isoform X1

      See identical proteins and their annotated locations for XP_006529296.1

      UniProtKB/TrEMBL
      Q3UTC9
      Conserved Domains (3) summary
      pfam00641
      Location:300329
      zf-RanBP; Zn-finger in Ran binding protein and others
      pfam13920
      Location:435482
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl02489
      Location:2677
      SWIB; SWIB/MDM2 domain

    RNA

    1. XR_387151.3 RNA Sequence

      Related
      ENSMUST00000185398.6, OTTMUST00000126453
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