MDM1 - Mdm1 nuclear protein Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56890

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	References	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	References	Source
involved in negative regulation of centriole replication	IMP IMP: Inferred from mutant phenotype	26337392	GOA

Cellular Component GO Annotation	Evidence	References	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

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

MDM1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MDM1	Q8TC05	CCDC57	Homo sapiens	Q2TAC2-2	Y2H Prey Pooling	32296183
Intra	MDM1	Q8TC05	CCDC57	Homo sapiens	Q2TAC2-2	Y2H Array	32296183
Intra	MDM1	Q8TC05	POC1A	Homo sapiens	Q8NBT0	Anti Tag CoIP	33961781
Intra	MDM1	Q8TC05	POC1A	Homo sapiens	Q8NBT0	Anti Tag CoIP	28514442
Intra	MDM1	Q8TC05	HOMER3	Homo sapiens	Q9NSC5	Y2H Prey Pooling	32296183
Intra	MDM1	Q8TC05	HOMER3	Homo sapiens	Q9NSC5	Validated Y2H	32296183
Intra	MDM1	Q8TC05	HOMER3	Homo sapiens	Q9NSC5	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (6)

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 Set	/	Unkown
HY-155407	ALR-6	Antagonist	/	Unkown
HY-155408	ALR-27	Antagonist	/	Unkown
HY-RS18772	Mdm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25260	Mdm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MDM1	NCBI