2. Gene
  3. NVL - nuclear VCP like Gene

NVL - nuclear VCP like Gene

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

中文名称：核 VCP 样

种属: Homo sapiens

同用名: NVL2

基因 ID: 4931 | 基因类型: protein coding

关于 NVL

Cytogenetic location: 1q42.11 Genomic coordinates (GRCh38): 1:224,227,345-224,330,172 (from NCBI)

This gene has 24 transcripts (splice variants), 207 orthologues and 5 paralogues. Ubiquitous expression in skin (RPKM 7.5), lymph node (RPKM 5.1) and 25 other tissues.

功能概要

该基因编码 AAA (与多种细胞活动相关的 ATP 酶) 超家族的成员。已发现该基因编码不同异构体的多个转录变体。两种编码的蛋白质，被描述为主要和次要同种型，已定位于细胞核的不同区域。最大的编码蛋白 (主要同种型) 已定位于核仁并显示参与核糖体生物合成 (PMID：15469983、16782053) ，而次要同种型已定位于核质蛋白。[RefSeq 提供，2011 年 8 月]

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]

NVL 基因产物(4)

mRNA Protein Name
NM_001243146.2 NP_001230075.1 nuclear valosin-containing protein-like isoform 3
NM_001243147.2 NP_001230076.1 nuclear valosin-containing protein-like isoform 4
NM_002533.4 NP_002524.2 nuclear valosin-containing protein-like isoform 1
NM_206840.3 NP_996671.1 nuclear valosin-containing protein-like 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 ATP binding IMP
IMP: 通过突变表型推断
22226966 GOA
enables preribosome binding IDA
IDA: 通过直接分析推断
16782053 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15469983 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of protein binding IDA
IDA: 通过直接分析推断
29107693 GOA
acts upstream of positive regulation of telomere maintenance IMP
IMP: 通过突变表型推断
22226966 GOA
involved in rRNA processing IDA
IDA: 通过直接分析推断
29107693 GOA
involved in regulation of protein localization to nucleolus IDA
IDA: 通过直接分析推断
29107693 GOA
involved in ribosomal large subunit biogenesis IDA
IDA: 通过直接分析推断
26166824 GOA
involved in ribosomal large subunit biogenesis IMP
IMP: 通过突变表型推断
26456651 GOA
involved in ribosome biogenesis IMP
IMP: 通过突变表型推断
15469983 GOA
involved in telomerase holoenzyme complex assembly IMP
IMP: 通过突变表型推断
22226966 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of nuclear exosome (RNase complex) IDA
IDA: 通过直接分析推断
26166824 GOA
colocalizes with nucleolus IDA
IDA: 通过直接分析推断
26456651 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
15469983 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
15469983 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16782053 GOA
part of telomerase holoenzyme complex IDA
IDA: 通过直接分析推断
22226966 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

NVL 蛋白结构

AAA

AAA: ATPase family associated with various cellular activities (AAA) (301 - 432)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (618 - 747)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 856 a.a.
蛋白主名 其他名称

nuclear valosin-containing protein-like

NVLp

关联疾病

疾病名称 别名
Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1

EJA1

JAE1

Juvenile Absence Epilepsy 1

Susceptibility To Juvenile Absence Epilepsy 1

Epilepsy, Juvenile Absence, Susceptibility To, Type 1

Absence Epilepsy
Chromosome 1q41-Q42 Deletion Syndrome

1q41-Q42 Microdeletion Syndrome

1q41q42 Microdeletion Syndrome

Holoprosencephaly 10, Included

Hpe10, Included

1q41-Q42 Deletion Syndrome

Deletion 1q41-Q42

Monosomy 1q41-Q42

Del(1)(Q41q42)

Monosomy 1q41q42

Chromosome Deletion Syndrome 1q41-Q42

Holoprosencephaly 10
Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-152292 Zidesamtinib Inhibitor 99.55% Phase 2
Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-156467 Neladalkib 99.90% 否
HY-156467A Neladalkib TFA 99.70% 否
HY-175783 MM927 Inducer / 否
HY-RS09707 NVL 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 NVL MGD MGI:1914709
Rattus norvegicus NVL RGD RGD:1311270
Macaca mulatta NVL VGNC VGNC:75564
Felis catus NVL VGNC VGNC:68602
Bos taurus NVL VGNC VGNC:32372
Canis familiaris NVL VGNC VGNC:44068
Others NVL NCBI
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