1. Gene
  2. RMND5A - required for meiotic nuclear division 5 homolog A Gene

RMND5A - required for meiotic nuclear division 5 homolog A Gene

中文名称:减数分裂核分裂 5 同系物 A 所需

种属: Homo sapiens

同用名: CTLH; GID2; RMD5; GID2A; p44CTLH

基因 ID: 64795 | 基因类型: protein coding

关于 RMND5A

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,720,291-86,778,041 (from NCBI)

This gene has 4 transcripts (splice variants), 140 orthologues and 2 paralogues. Ubiquitous expression in esophagus (RPKM 17.5), heart (RPKM 16.4) and 25 other tissues.

功能概要

预测可启用金属离子结合活性和泛素蛋白连接酶活性。预计有助于泛素蛋白转移酶活性。预计参与蛋白酶体介导的泛素依赖性蛋白质分解代谢过程和蛋白质多聚泛素化。位于细胞质和核质中。泛素连接酶复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable metal ion binding activity and ubiquitin protein Ligase activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Located in cytoplasm and nucleoplasm. Part of ubiquitin Ligase complex. [provided by Alliance of Genome Resources, Apr 2022]

RMND5A 基因产物(1)

mRNA Protein Name
NM_022780.4 NP_073617.1 E3 ubiquitin-protein transferase RMND5A
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17467196 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17467196 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
24143168 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17467196 GOA
part of ubiquitin ligase complex IDA
IDA: 通过直接分析推断
29911972 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

RMND5A 蛋白结构

CLTH

CLTH: CTLH/CRA C-terminal to LisH motif domain (154 - 296)

zf-RING_UBOX

zf-RING_UBOX: RING-type zinc-finger (336 - 375)

  • 0
  • 100
  • 200
  • 300
  • 391 a.a.
蛋白主名 其他名称

E3 ubiquitin-protein transferase RMND5A

44-kD protein coding for CTLH motif

RMND5A 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
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
Y2H Array
32296183
种属内
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
Anti Tag CoIP
28514442
种属内
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
Y2H Prey Pooling
32296183
种属内
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
TAP
27173435
种属内
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
Anti Tag CoIP
33961781
种属内
RMND5A Q9H871 GID8 Homo sapiens Q9NWU2
Validated Y2H
32296183
种属内
RMND5A Q9H871 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
RMND5A Q9H871 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
RMND5A Q9H871 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
RMND5A Q9H871 NDUFV1 Homo sapiens P49821
Validated Y2H
32814053
种属内
RMND5A Q9H871 NDUFV1 Homo sapiens P49821
Y2H Array
32814053
种属内
RMND5A Q9H871 NDUFV1 Homo sapiens P49821
Y2H Pooling
32814053
种属内
RMND5A Q9H871 MEOX2 Homo sapiens P50222
Y2H Prey Pooling
25416956
种属内
RMND5A Q9H871 MEOX2 Homo sapiens P50222
Y2H Array
25416956
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
Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Bos taurus RMND5A VGNC VGNC:33996
Mus musculus RMND5A MGD MGI:1915727
Macaca mulatta RMND5A VGNC VGNC:76829
Canis familiaris RMND5A VGNC VGNC:45610
Felis catus RMND5A VGNC VGNC:64654
Rattus norvegicus RMND5A RGD RGD:1309766