2. Gene
  3. MDM1 - Mdm1 nuclear protein Gene

MDM1 - Mdm1 nuclear protein Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 56890 | Gene type: protein coding

About MDM1

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:68,294,566-68,332,362 (from NCBI)

This gene has 16 transcripts (splice variants) and 182 orthologues. Broad expression in testis (RPKM 7.9), endometrium (RPKM 4.1) and 24 other tissues.

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]

MDM1 Products(11)

mRNA Protein Name
NM_001205028.3 NP_001191957.1 nuclear protein MDM1 isoform 4
NM_001205029.3 NP_001191958.1 nuclear protein MDM1 isoform 3
NM_001354969.2 NP_001341898.1 nuclear protein MDM1 isoform 5
NM_001354970.2 NP_001341899.1 nuclear protein MDM1 isoform 6
NM_001354971.2 NP_001341900.1 nuclear protein MDM1 isoform 7
NM_001354972.2 NP_001341901.1 nuclear protein MDM1 isoform 7
NM_001354973.2 NP_001341902.1 nuclear protein MDM1 isoform 7
NM_001354974.2 NP_001341903.1 nuclear protein MDM1 isoform 8
NM_001368282.1 NP_001355211.1 nuclear protein MDM1 isoform 7
NM_017440.6 NP_059136.2 nuclear protein MDM1 isoform 1
NM_020128.4 NP_064513.1 nuclear protein MDM1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables microtubule binding IMP
IMP: Inferred from mutant phenotype
26337392 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of centriole replication IMP
IMP: Inferred from mutant phenotype
26337392 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centriole IDA
IDA: Inferred from direct assay
26337392 GOA
located in centrosome IDA
IDA: Inferred from direct assay
26337392 GOA
located in nucleus IDA
IDA: Inferred from direct assay
26337392 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDM1 Protein Structure

MDM1

MDM1: Nuclear protein MDM1 (9 - 548)

  • 0
  • 200
  • 400
  • 600
  • 714 a.a.
Protein Preferred Names Protein Names

nuclear protein MDM1

Mdm4, transformed 3T3 cell double minute 1, p53 binding protein

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 20

Autosomal Recessive Spinocerebellar Ataxia 20

SCAR20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

Autosomal Recessive Spinocerebellar Ataxia Type 20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 20

Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Retinal Degeneration

Degeneration Of Retina
Choreoacanthocytosis

Chorea-Acanthocytosis

CHAC

Acanthocytosis With Neurologic Disorder

Levine-Critchley Syndrome

Choreaacanthocytosis

Chorea Acanthocytosis

Neuroacanthocytosis

Levine-Critchley Syndrome, Formerly

Neuroacanthocytosis, Formerly

Choreo-Acanthocytosis

Acanthocytosis Chorea

Chorea Acanthocytosis Syndrome
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-15997 (-)-U-50488 hydrochloride Inhibitor 99.71% Unkown
HY-RS08263 MDM1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-155407 ALR-6 Antagonist / Unkown
HY-155408 ALR-27 Antagonist / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MDM1 VGNC VGNC:43105
Macaca mulatta MDM1 VGNC VGNC:74622
Felis catus MDM1 VGNC VGNC:63427
Bos taurus MDM1 VGNC VGNC:31335
Mus musculus MDM1 MGD MGI:96951
Rattus norvegicus MDM1 RGD RGD:1561092