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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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