1. Gene
  2. MDM1 - Mdm1 nuclear protein Gene

MDM1 - Mdm1 nuclear protein Gene

中文名称:Mdm1 核蛋白

种属: Homo sapiens

基因 ID: 56890 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种微管结合核蛋白,定位于分裂细胞和分化多纤毛细胞的中心粒,负调节中心粒复制。编码的蛋白质与中心粒桶密切相关,位于中心粒腔内。直系同源小鼠基因中自然发生的突变与年龄相关的视网膜变性有关。[RefSeq 提供,2019 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables microtubule binding IMP
IMP: 通过突变表型推断
26337392 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of centriole replication IMP
IMP: 通过突变表型推断
26337392 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
26337392 GOA
located in centrosome IDA
IDA: 通过直接分析推断
26337392 GOA
located in nucleus IDA
IDA: 通过直接分析推断
26337392 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MDM1 蛋白结构

MDM1

MDM1: Nuclear protein MDM1 (9 - 548)

  • 0
  • 200
  • 400
  • 600
  • 714 a.a.
蛋白主名 其他名称

nuclear protein MDM1

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

MDM1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
MDM1 Q8TC05 CCDC57 Homo sapiens Q2TAC2-2 32296183
种属内
MDM1 Q8TC05 CCDC57 Homo sapiens Q2TAC2-2 32296183
种属内
MDM1 Q8TC05 POC1A Homo sapiens Q8NBT0 33961781
种属内
MDM1 Q8TC05 POC1A Homo sapiens Q8NBT0 28514442
种属内
MDM1 Q8TC05 HOMER3 Homo sapiens Q9NSC5 32296183
种属内
MDM1 Q8TC05 HOMER3 Homo sapiens Q9NSC5 32296183
种属内
MDM1 Q8TC05 HOMER3 Homo sapiens Q9NSC5 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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