Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
thymus | 99% | 24596.26 | 649 / 653 | 100% | 78.41 | 602 / 605 |
adrenal gland | 97% | 14942.33 | 249 / 258 | 99% | 58.55 | 227 / 230 |
prostate | 96% | 20722.64 | 235 / 245 | 98% | 56.81 | 492 / 502 |
kidney | 94% | 10958.45 | 84 / 89 | 97% | 62.21 | 875 / 901 |
lung | 99% | 23676.98 | 572 / 578 | 92% | 37.32 | 1063 / 1155 |
esophagus | 96% | 20066.16 | 1387 / 1445 | 93% | 41.82 | 170 / 183 |
uterus | 99% | 20182.94 | 168 / 170 | 87% | 29.84 | 399 / 459 |
skin | 92% | 32063.32 | 1656 / 1809 | 93% | 29.97 | 439 / 472 |
pancreas | 79% | 7130.00 | 260 / 328 | 96% | 51.88 | 171 / 178 |
liver | 85% | 8139.46 | 193 / 226 | 87% | 27.56 | 352 / 406 |
breast | 100% | 29542.67 | 459 / 459 | 71% | 18.54 | 795 / 1118 |
ovary | 100% | 37052.38 | 180 / 180 | 70% | 14.93 | 302 / 430 |
bladder | 100% | 19669.38 | 21 / 21 | 66% | 18.75 | 332 / 504 |
stomach | 96% | 15269.50 | 344 / 359 | 66% | 17.20 | 189 / 286 |
intestine | 95% | 18042.66 | 917 / 966 | 59% | 13.85 | 311 / 527 |
brain | 52% | 3914.58 | 1361 / 2642 | 99% | 75.15 | 701 / 705 |
adipose | 100% | 29823.03 | 1202 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 28934.15 | 1332 / 1335 | 0% | 0 | 0 / 0 |
muscle | 99% | 26791.73 | 797 / 803 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 95% | 29.31 | 76 / 80 |
tonsil | 0% | 0 | 0 / 0 | 93% | 40.10 | 42 / 45 |
spleen | 93% | 12704.26 | 224 / 241 | 0% | 0 | 0 / 0 |
heart | 93% | 12499.16 | 799 / 861 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 76% | 12.39 | 22 / 29 |
peripheral blood | 70% | 11156.48 | 652 / 929 | 0% | 0 | 0 / 0 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
GO_0009649 | Biological process | entrainment of circadian clock |
GO_0002028 | Biological process | regulation of sodium ion transport |
GO_2000323 | Biological process | negative regulation of glucocorticoid receptor signaling pathway |
GO_0010608 | Biological process | post-transcriptional regulation of gene expression |
GO_0000122 | Biological process | negative regulation of transcription by RNA polymerase II |
GO_0006338 | Biological process | chromatin remodeling |
GO_0032922 | Biological process | circadian regulation of gene expression |
GO_0007623 | Biological process | circadian rhythm |
GO_0042752 | Biological process | regulation of circadian rhythm |
GO_0051591 | Biological process | response to cAMP |
GO_1900015 | Biological process | regulation of cytokine production involved in inflammatory response |
GO_0046329 | Biological process | negative regulation of JNK cascade |
GO_0042634 | Biological process | regulation of hair cycle |
GO_1900744 | Biological process | regulation of p38MAPK cascade |
GO_0097167 | Biological process | circadian regulation of translation |
GO_0043153 | Biological process | entrainment of circadian clock by photoperiod |
GO_0045892 | Biological process | negative regulation of DNA-templated transcription |
GO_0043124 | Biological process | negative regulation of canonical NF-kappaB signal transduction |
GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005829 | Cellular component | cytosol |
GO_0005737 | Cellular component | cytoplasm |
GO_0005634 | Cellular component | nucleus |
GO_0000978 | Molecular function | RNA polymerase II cis-regulatory region sequence-specific DNA binding |
GO_0140297 | Molecular function | DNA-binding transcription factor binding |
GO_0000976 | Molecular function | transcription cis-regulatory region binding |
GO_0019900 | Molecular function | kinase binding |
GO_0001222 | Molecular function | transcription corepressor binding |
GO_0031625 | Molecular function | ubiquitin protein ligase binding |
GO_0031490 | Molecular function | chromatin DNA binding |
GO_0070888 | Molecular function | E-box binding |
GO_0005515 | Molecular function | protein binding |
Gene name | PER1 |
Protein name | Period circadian regulator 1 PER1 protein PER1 Period circadian protein homolog 1 (hPER1) (Circadian clock protein PERIOD 1) (Circadian pacemaker protein Rigui) Period 1 Period circadian regulator 1 (Period homolog 1 (Drosophila), isoform CRA_b) |
Synonyms | PER KIAA0482 hCG_31279 RIGUI |
Description | FUNCTION: Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/BMAL1 target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by BMAL1:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1. . |
Accessions | ENST00000583559.1 J3QLQ5 J3QL46 ENST00000582719.5 ENST00000317276.9 [O15534-1] O15534 ENST00000581395.5 ENST00000581703.1 J3QL55 ENST00000584202.1 Q9H2D0 J3KSL6 J3KTM2 ENST00000581082.5 ENST00000354903.9 [O15534-4] J3KRL7 J3QSH9 Q6IN51 A2I2P6 ENST00000577253.5 |