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MDM1 Mdm1 nuclear protein [ Homo sapiens (human) ]

Gene ID: 56890, updated on 17-Jun-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (68294566..68332362, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (68274117..68311913, complement)
105.20220307 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 (20) 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)

Genotypes

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_2023_10

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

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