1. Gene
  2. PER1 - period circadian regulator 1 Gene

PER1 - period circadian regulator 1 Gene

中文名称:周期昼夜节律调节器 1

种属: Homo sapiens

同用名: PER; hPER; RIGUI

基因 ID: 5187 | 基因类型: protein coding

关于 PER1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,140,472-8,152,404 (from NCBI)

This gene has 19 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 70 phenotypes. Ubiquitous expression in bone marrow (RPKM 31.1), ovary (RPKM 28.6) and 25 other tissues.

功能概要

该基因是 Period 基因家族的成员,在视交叉上核 (哺乳动物大脑中的主要昼夜节律起搏器) 中以昼夜节律模式表达。该家族中的基因编码运动活动、新陈代谢和行为的昼夜节律的组成部分。该基因被 CLOCK/ARNTL 异二聚体上调,但随后使用 PER/CRY 异二聚体与 CLOCK/ARNTL 相互作用在反馈回路中抑制这种上调。该基因的多态性可能会增加患某些癌症的风险。已在该基因中观察到选择性剪接;然而,这些变体尚未得到充分描述。[RefSeq 提供,2014 年 1 月]

This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]

PER1 基因产物(1)

mRNA Protein Name
NM_002616.3 NP_002607.2 period circadian protein homolog 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 E-box binding IDA
IDA: 通过直接分析推断
18411297 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
18411297 GOA
enables kinase binding IPI
IPI: 通过物理相互作用推断
15917222 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23503662 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
15917222 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in circadian regulation of gene expression IDA
IDA: 通过直接分析推断
18411297 GOA
involved in circadian rhythm IEP
IEP: 通过表达模式推断
14645221 GOA
involved in regulation of hair cycle IMP
IMP: 通过突变表型推断
24005054 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
24005054 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

PER1 蛋白结构

PAS_11

PAS_11: PAS domain (360 - 461)

Period_C

Period_C: Period protein 2/3C-terminal region (1032 - 1214)

  • 0
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  • 1200
  • 1290 a.a.
蛋白主名 其他名称

period circadian protein homolog 1

Period, drosophila, homolog of

PER1 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
Intra PER1 O15534 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
32814053
Intra PER1 O15534 FKBP1A Homo sapiens Q0VDC6
Y2H Array
32814053
Intra PER1 O15534 FKBP1A Homo sapiens Q0VDC6
Y2H Pooling
32814053
Intra PER1 O15534 SARS1 Homo sapiens P49591
Validated Y2H
32814053
Intra PER1 O15534 SARS1 Homo sapiens P49591
Y2H Array
32814053
Intra PER1 O15534 SARS1 Homo sapiens P49591
Y2H Pooling
32814053
Intra PER1 O15534 EIF2S3 Homo sapiens P41091
Y2H Array
32814053
Intra PER1 O15534 EIF2S3 Homo sapiens P41091
Validated Y2H
32814053
Intra PER1 O15534 EIF2S3 Homo sapiens P41091
Y2H Pooling
32814053
Intra PER1 O15534 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra PER1 O15534 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra PER1 O15534 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra PER1 O15534 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
Intra PER1 O15534 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
Intra PER1 O15534 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
Intra PER1 O15534 BAG6 Homo sapiens P46379-2
Y2H Pooling
32814053
Intra PER1 O15534 BAG6 Homo sapiens P46379-2
Validated Y2H
32814053
Intra PER1 O15534 BAG6 Homo sapiens P46379-2
Y2H Array
32814053
Intra PER1 O15534 PLP1 Homo sapiens P60201-2
Y2H Pooling
32814053
Intra PER1 O15534 PLP1 Homo sapiens P60201-2
Validated Y2H
32814053
Intra PER1 O15534 PLP1 Homo sapiens P60201-2
Y2H Array
32814053
Intra PER1 O15534 APBB2 Homo sapiens Q92870-2
Validated Y2H
32814053
Intra PER1 O15534 APBB2 Homo sapiens Q92870-2
Y2H Array
32814053
Intra PER1 O15534 APBB2 Homo sapiens Q92870-2
Y2H Pooling
32814053
Intra PER1 O15534 ERN1 Homo sapiens O75460-2
Y2H Array
32814053
Intra PER1 O15534 ERN1 Homo sapiens O75460-2
Y2H Pooling
32814053
Intra PER1 O15534 ERN1 Homo sapiens O75460-2
Validated Y2H
32814053
Intra PER1 O15534 ST13 Homo sapiens Q9P1I4
Y2H Array
32814053
Intra PER1 O15534 ST13 Homo sapiens Q9P1I4
Y2H Pooling
32814053
Intra PER1 O15534 ST13 Homo sapiens Q9P1I4
Validated Y2H
32814053
Intra PER1 O15534 RAN Homo sapiens P62826
Validated Y2H
32814053
Intra PER1 O15534 RAN Homo sapiens P62826
Y2H Array
32814053
Intra PER1 O15534 RAN Homo sapiens P62826
Y2H Pooling
32814053
Intra PER1 O15534 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra PER1 O15534 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra PER1 O15534 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra PER1 O15534 HRAS Homo sapiens P01112
Validated Y2H
32814053
Intra PER1 O15534 HRAS Homo sapiens P01112
Y2H Array
32814053
Intra PER1 O15534 HRAS Homo sapiens P01112
Y2H Pooling
32814053
Intra PER1 O15534 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra PER1 O15534 GSN Homo sapiens P06396
Y2H Array
32814053
Intra PER1 O15534 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra PER1 O15534 HSPB1 Homo sapiens P04792
Validated Y2H
32814053
Intra PER1 O15534 HSPB1 Homo sapiens P04792
Y2H Array
32814053
Intra PER1 O15534 HSPB1 Homo sapiens P04792
Y2H Pooling
32814053
Intra PER1 O15534 HSPA2 Homo sapiens P54652
Validated Y2H
32814053
Intra PER1 O15534 HSPA2 Homo sapiens P54652
Y2H Array
32814053
Intra PER1 O15534 HSPA2 Homo sapiens P54652
Y2H Pooling
32814053
Intra PER1 O15534 CCT7 Homo sapiens Q99832
Y2H Array
32814053
Intra PER1 O15534 CCT7 Homo sapiens Q99832
Y2H Pooling
32814053
Intra PER1 O15534 CCT7 Homo sapiens Q99832
Validated Y2H
32814053
Intra PER1 O15534 NUPR1 Homo sapiens O60356
Y2H Pooling
32814053
Intra PER1 O15534 NUPR1 Homo sapiens O60356
Validated Y2H
32814053
Intra PER1 O15534 NUPR1 Homo sapiens O60356
Y2H Array
32814053
Intra PER1 O15534 P4HB Homo sapiens P07237
Y2H Pooling
32814053
Intra PER1 O15534 P4HB Homo sapiens P07237
Validated Y2H
32814053
Intra PER1 O15534 P4HB Homo sapiens P07237
Y2H Array
32814053
Intra PER1 O15534 PRPF40A Homo sapiens O75400-2
Y2H Array
32814053
Intra PER1 O15534 PRPF40A Homo sapiens O75400-2
Validated Y2H
32814053
Intra PER1 O15534 PRPF40A Homo sapiens O75400-2
Y2H Pooling
32814053
Intra PER1 O15534 EEF1D Homo sapiens P29692-2
Y2H Pooling
32814053
Intra PER1 O15534 EEF1D Homo sapiens P29692-2
Validated Y2H
32814053
Intra PER1 O15534 EEF1D Homo sapiens P29692-2
Y2H Array
32814053
Intra PER1 O15534 CASP6 Homo sapiens P55212
Validated Y2H
32814053
Intra PER1 O15534 CASP6 Homo sapiens P55212
Y2H Array
32814053
Intra PER1 O15534 CASP6 Homo sapiens P55212
Y2H Pooling
32814053
Intra PER1 O15534 WFS1 Homo sapiens O76024
Y2H Array
32814053
Intra PER1 O15534 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra PER1 O15534 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra PER1 O15534 CRY1 Homo sapiens Q16526
Anti Tag CoIP
28514442
Intra PER1 O15534 CRY1 Homo sapiens Q16526
Anti Tag CoIP
33961781
Intra PER1 O15534 UBQLN1 Homo sapiens Q9UMX0
Validated Y2H
32814053
Intra PER1 O15534 UBQLN1 Homo sapiens Q9UMX0
Y2H Array
32814053
Intra PER1 O15534 UBQLN1 Homo sapiens Q9UMX0
Y2H Pooling
32814053
Intra PER1 O15534 GFAP Homo sapiens P14136
Validated Y2H
32814053
Intra PER1 O15534 GFAP Homo sapiens P14136
Y2H Pooling
32814053
Intra PER1 O15534 GFAP Homo sapiens P14136
Y2H Array
32814053
Intra PER1 O15534 GRN Homo sapiens P28799
Validated Y2H
32814053
Intra PER1 O15534 GRN Homo sapiens P28799
Y2H Pooling
32814053
Intra PER1 O15534 GRN Homo sapiens P28799
Y2H Array
32814053
Intra PER1 O15534 PRPS1 Homo sapiens P60891
Y2H Array
32814053
Intra PER1 O15534 PRPS1 Homo sapiens P60891
Y2H Pooling
32814053
Intra PER1 O15534 PRPS1 Homo sapiens P60891
Validated Y2H
32814053
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
Advanced Sleep Phase Syndrome

Fasps

Familial Advanced Sleep-Phase Syndrome

Advanced Sleep Phase Syndrome, Familial

Familial Advanced Sleep Phase Syndrome

Sleep Phase Syndrome, Advanced, Familial

Advanced Sleep-Phase Syndrome, Familial

Rem Sleep Behavior Disorder

Rapid Eye Movement Sleep Behavior Disorder

Rem Sleep Behaviour Disorder

Rapid Eye Movement Sleep Behaviour Disorder

Rem - [Rapid Eye Movement] Behaviour Disorder

Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8

Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

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
Canis familiaris PER1 VGNC VGNC:44420
Rattus norvegicus PER1 RGD RGD:727863
Bos taurus PER1 VGNC VGNC:32748
Mus musculus PER1 MGD MGI:1098283
Macaca mulatta PER1 VGNC VGNC:75942
Felis catus PER1 VGNC VGNC:68787