1. Gene
  2. NPAS1 - neuronal PAS domain protein 1 Gene

NPAS1 - neuronal PAS domain protein 1 Gene

中文名称:神经元 PAS 结构域蛋白 1

种属: Homo sapiens

同用名: MOP5; PASD5; bHLHe11

基因 ID: 4861 | 基因类型: protein coding

关于 NPAS1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,019,837-47,045,775 (from NCBI)

This gene has 8 transcripts (splice variants), 180 orthologues and 7 paralogues. Biased expression in brain (RPKM 1.1), stomach (RPKM 0.8) and 8 other tissues.

功能概要

该基因编码的蛋白质是基本螺旋-环-螺旋 (bHLH) -PAS 转录因子家族的成员。对相关小鼠基因的研究表明它在神经元中起作用。该基因的确切功能尚不清楚,但它可能在胚胎发生晚期和出生后发育过程中发挥保护或调节作用。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]

NPAS1 基因产物(2)

mRNA Protein Name
NM_001321086.2 NP_001308015.1 neuronal PAS domain-containing protein 1 isoform 2
NM_002517.4 NP_002508.2 neuronal PAS domain-containing protein 1 isoform 1

NPAS1 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (52 - 96)

PAS

PAS: PAS fold (141 - 198)

PAS_3

PAS_3: PAS fold (316 - 388)

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

neuronal PAS domain-containing protein 1

PAS domain-containing protein 5

关联疾病

疾病名称 别名
Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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
Felis catus NPAS1 VGNC VGNC:68525
Macaca mulatta NPAS1 VGNC VGNC:75377
Rattus norvegicus NPAS1 RGD RGD:1310040
Mus musculus NPAS1 MGD MGI:109205
Bos taurus NPAS1 VGNC VGNC:32189
Canis familiaris NPAS1 VGNC VGNC:43908