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MDM1 Mdm1 nuclear protein [ Homo sapiens (human) ]

Gene ID: 56890, updated on 1-Jun-2020

Summary

Official Symbol
MDM1provided by HGNC
Official Full Name
Mdm1 nuclear proteinprovided by HGNC
Primary source
HGNC:HGNC:29917
See related
Ensembl:ENSG00000111554 MIM:613813
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

Genomic context

See MDM1 in Genome Data Viewer
Location:
12q15
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (68294566..68332414, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (68688346..68726161, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369818 Neighboring gene interleukin 26 Neighboring gene interleukin 22 Neighboring gene uncharacterized LOC105369819 Neighboring gene long intergenic non-protein coding RNA 2384

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ95264

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
negative regulation of centriole replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001205028.2NP_001191957.1  nuclear protein MDM1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC022511, AF267851, AK026745, AK297311, BM787113
    Consensus CDS
    CCDS55841.1
    UniProtKB/Swiss-Prot
    Q8TC05
    Related
    ENSP00000391006.2, ENST00000411698.6
    Conserved Domains (1) summary
    pfam15501
    Location:9513
    MDM1; Nuclear protein MDM1
  2. NM_001205029.3NP_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:945
    MDM1; Nuclear protein MDM1
  3. NM_001354969.1NP_001341898.1  nuclear protein MDM1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745
    Conserved Domains (1) summary
    pfam15501
    Location:9558
    MDM1; Nuclear protein MDM1
  4. NM_001354970.1NP_001341899.1  nuclear protein MDM1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745
    Conserved Domains (1) summary
    pfam15501
    Location:4508
    MDM1; Nuclear protein MDM1
  5. NM_001354971.1NP_001341900.1  nuclear protein MDM1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745
    Conserved Domains (1) summary
    pfam15501
    Location:1278
    MDM1; Nuclear protein MDM1
  6. NM_001354972.1NP_001341901.1  nuclear protein MDM1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745
    Conserved Domains (1) summary
    pfam15501
    Location:1278
    MDM1; Nuclear protein MDM1
  7. NM_001354973.1NP_001341902.1  nuclear protein MDM1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745
    Conserved Domains (1) summary
    pfam15501
    Location:1278
    MDM1; Nuclear protein MDM1
  8. NM_001354974.1NP_001341903.1  nuclear protein MDM1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745, BC034945
    Conserved Domains (1) summary
    pfam15501
    Location:1268
    MDM1; Nuclear protein MDM1
  9. NM_001368282.1NP_001355211.1  nuclear protein MDM1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC022511
  10. NM_017440.5NP_059136.2  nuclear protein MDM1 isoform 1

    See identical proteins and their annotated locations for NP_059136.2

    Status: REVIEWED

    Source sequence(s)
    AC022511, AK026745, AK314461, BC010622, BC028355, BM787113, CD704611
    Consensus CDS
    CCDS8983.1
    UniProtKB/Swiss-Prot
    Q8TC05
    Related
    ENSP00000302537.7, ENST00000303145.11
    Conserved Domains (1) summary
    pfam15501
    Location:9548
    MDM1; Nuclear protein MDM1
  11. NM_020128.4NP_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/Swiss-Prot
    Q8TC05
    Related
    ENSP00000408694.2, ENST00000430606.3
    Conserved Domains (1) summary
    pfam15501
    Location:9168
    MDM1; Nuclear protein MDM1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    68294566..68332414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019650.1XP_016875139.1  nuclear protein MDM1 isoform X2

    Conserved Domains (1) summary
    pfam15501
    Location:1278
    MDM1; Nuclear protein MDM1
  2. XM_011538569.1XP_011536871.1  nuclear protein MDM1 isoform X1

    Conserved Domains (1) summary
    pfam15501
    Location:9558
    MDM1; Nuclear protein MDM1
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