2. Gene
  3. RMND1 - required for meiotic nuclear division 1 homolog Gene

RMND1 - required for meiotic nuclear division 1 homolog Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：减数分裂核分裂 1 同系物所需

种属: Homo sapiens

同用名: RMD1; C6orf96; COXPD11; bA351K16; bA351K16.3

基因 ID: 55005 | 基因类型: protein coding

关于 RMND1

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:151,404,762-151,452,126 (from NCBI)

This gene has 25 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.9), kidney (RPKM 10.5) and 25 other tissues.

功能概要

该基因编码的蛋白质属于进化保守的 sif2 蛋白质家族，它们共有 DUF155 结构域。这种蛋白质被认为位于线粒体中并参与线粒体翻译。该基因的突变与联合氧化磷酸化缺陷 11 有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 12 月]

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined Oxidative Phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

RMND1 基因产物(2)

mRNA Protein Name
NM_001271937.2 NP_001258866.1 required for meiotic nuclear division protein 1 homolog isoform 2
NM_017909.4 NP_060379.2 required for meiotic nuclear division protein 1 homolog isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of mitochondrial translation IDA
IDA: 通过直接分析推断
25604853 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
25604853 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

RMND1 蛋白结构

DUF155

DUF155: Uncharacterised ACR, YagE family COG1723 (226 - 404)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 449 a.a.
蛋白主名 其他名称

required for meiotic nuclear division protein 1 homolog

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 11

COXPD11

Combined Oxidative Phosphorylation Defect Type 11

Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect

Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect

Combined Oxidative Phosphorylation Deficiency, Type 11
Mitochondrial Oxidative Phosphorylation Disorder

Oxphos Disease

Mitochondrial Respiratory Chain Disorders

Oxphos - [Oxidative Phosphorylation] Diseases
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
Juvenile Nephronophthisis

Nephronophthisis

Nephronophthisis, Familial Juvenile
Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder
Combined Oxidative Phosphorylation Deficiency
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd

Sensorineural Deafness With Mild Renal Dysfunction

Bartter Disease Type 4a

BARTS4A

Bartter Syndrome, Type 4a

Bartter Syndrome Type 4

Bartter Syndrome, Neonatal, With Sensorineural Deafness

Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type 4a

Neonatal Bartter Syndrome With Sensorineural Deafness

Bartter Syndrome Type Iv

Bartter Syndrome With Sensorineural Hearing Loss

Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness

Hyperprostanglandin E Syndrome 4

Hypokalemic Alkalosis With Hypercalciuria Antenatal 4

Infantile Bartter Syndrome With Sensorineural Deafness
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome

Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Dermopathy, Restrictive, Lethal
Leukoencephalopathy, Cystic, Without Megalencephaly

Cystic Leukoencephalopathy Without Megalencephaly

Rnaset2-Deficient Cystic Leukoencephalopathy

Rnase T2-Deficient Leukoencephalopathy

Clwm

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts

Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy

Lbatc

LCWM
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12016 RMND1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus RMND1 MGD MGI:1913334
Macaca mulatta RMND1 VGNC VGNC:76797
Rattus norvegicus RMND1 RGD RGD:1309546
Bos taurus RMND1 VGNC VGNC:33995
Canis familiaris RMND1 VGNC VGNC:53761
Felis catus RMND1 VGNC VGNC:64653
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