MDM1 - Mdm1 nuclear protein Gene

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

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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08263	MDM1 Human Pre-designed siRNA Set A		/	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

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