1. Gene
  2. NPAS3 - neuronal PAS domain protein 3 Gene

NPAS3 - neuronal PAS domain protein 3 Gene

中文名称:神经元 PAS 结构域蛋白 3

种属: Homo sapiens

同用名: MOP6; PASD6; bHLHe12

基因 ID: 64067 | 基因类型: protein coding

关于 NPAS3

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:32,934,785-33,804,173 (from NCBI)

This gene has 16 transcripts (splice variants), 208 orthologues and 7 paralogues. Biased expression in brain (RPKM 3.9), endometrium (RPKM 1.3) and 4 other tissues.

功能概要

该基因编码基本螺旋-环-螺旋和包含 PAS 结构域的转录因子家族的成员。编码的蛋白质定位于细胞核,可以调节参与神经发生的基因。影响该基因编码潜能的染色体异常与精神分裂症和认知障碍有关。交替剪接导致多个转录本变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

NPAS3 基因产物(6)

mRNA Protein Name
NM_001164749.2 NP_001158221.1 neuronal PAS domain-containing protein 3 isoform 1
NM_001165893.2 NP_001159365.1 neuronal PAS domain-containing protein 3 isoform 4
NM_001394988.1 NP_001381917.1 neuronal PAS domain-containing protein 3 isoform 5
NM_001394989.1 NP_001381918.1 neuronal PAS domain-containing protein 3 isoform 6
NM_022123.3 NP_071406.1 neuronal PAS domain-containing protein 3 isoform 2
NM_173159.3 NP_775182.1 neuronal PAS domain-containing protein 3 isoform 3
基因本体论
  • 分子功能
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
24722188 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

NPAS3 蛋白结构

PAS

PAS: PAS fold (152 - 212)

PAS_3

PAS_3: PAS fold (343 - 429)

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

neuronal PAS domain-containing protein 3

PAS domain-containing protein 6

NPAS3 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
NPAS3 Q8IXF0 ARNT2 Homo sapiens Q9HBZ2 24722188
种属内
NPAS3 Q8IXF0 ARNT2 Homo sapiens Q9HBZ2 33961781
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
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Schizophrenia 15

SCZD15

Schizophrenia 15 With Or Without An Affective Disorder

Schizophrenia Susceptibility Locus, Chromosome 22q13-Related

Schizophrenia Susceptibility Locus Chromosome 22q13-Related

Schizophrenia, Type 15

Schizophrenia 18

SCZD18

Schizophrenia 18 With Or Without An Affective Disorder

Schizophrenia Susceptibility 18

Chromosome 7q36.3 Duplication Syndrome, 362-Kb

Schizophrenia, Type 18

Chromosome 14q11-Q22 Deletion Syndrome

14q11.2 Microdeletion Syndrome

Zahir-Friedman Syndrome

Del(14)(Q11.2)

Monosomy 14q11.2

Holoprosencephaly 8

HPE8

Holoprosencephaly-8

Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta NPAS3 VGNC VGNC:75213
Mus musculus NPAS3 MGD MGI:1351610
Bos taurus NPAS3 VGNC VGNC:59355
Felis catus NPAS3 VGNC VGNC:104572
Rattus norvegicus NPAS3 RGD RGD:1307181
Canis familiaris NPAS3 VGNC VGNC:56062