2. Gene
  3. NME8 - NME/NM23 family member 8 Gene

NME8 - NME/NM23 family member 8 Gene

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

中文名称：NME/NM23 家族成员 8

种属: Homo sapiens

同用名: CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99

基因 ID: 51314 | 基因类型: protein coding

关于 NME8

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:37,848,597-37,900,397 (from NCBI)

This gene has 6 transcripts (splice variants), 125 orthologues, 8 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 4.9), bone marrow (RPKM 3.6) and 3 other tissues.

功能概要

该基因编码的蛋白质具有一个 N 末端硫氧还蛋白结构域和三个 C 末端核苷二磷酸激酶 (NDK) 结构域，但 NDK 结构域被认为没有催化活性。该基因的海胆直向同源基因编码精子外动力蛋白臂的一个成分，该蛋白质与纤毛功能有关。该基因的突变与 6 型原发性纤毛运动障碍有关。[RefSeq 提供，2009 年 11 月]

This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]

NME8 基因产物(1)

mRNA Protein Name
NM_016616.5 NP_057700.3 thioredoxin domain-containing protein 3
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 3'-5' exonuclease activity IDA
IDA: 通过直接分析推断
16313181 GOA
enables microtubule binding IDA
IDA: 通过直接分析推断
17360648 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within cilium assembly IMP
IMP: 通过突变表型推断
17360648 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
11737268 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11737268 GOA
part of outer dynein arm IMP
IMP: 通过突变表型推断
17360648 GOA
located in sperm midpiece IDA
IDA: 通过直接分析推断
11737268 GOA
located in sperm principal piece IDA
IDA: 通过直接分析推断
11737268 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

NME8 蛋白结构

Thioredoxin

Thioredoxin: Thioredoxin (14 - 102)

NDK

NDK: Nucleoside diphosphate kinase (156 - 229)

NDK

NDK: Nucleoside diphosphate kinase (316 - 449)

NDK

NDK: Nucleoside diphosphate kinase (451 - 584)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 588 a.a.
蛋白主名 其他名称

thioredoxin domain-containing protein 3

epididymis secretory protein Li 99

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 6

Primary Ciliary Dyskinesia 6

CILD6

Ics6

Immotile Cilia Syndrome 6

Dyskinesia, Ciliary, Primary, 6
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Kartagener Syndrome

Kartagener'S Syndrome
Ciliary Dyskinesia, Primary, 10

Primary Ciliary Dyskinesia 10

CILD10

Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus

Ics10

Immotile Cilia Syndrome 10

Dyskinesia, Ciliary, Primary, 10
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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-RS09379 NME8 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus NME8 MGD MGI:1920662
Bos taurus NME8 VGNC VGNC:32130
Rattus norvegicus NME8 RGD RGD:735069
Felis catus NME8 VGNC VGNC:63838
Canis familiaris NME8 VGNC VGNC:43859
Macaca mulatta NME8 VGNC VGNC:75190
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