PER1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PER1 |
| Official Name | period circadian regulator 1 [Source:HGNC Symbol;Acc:HGNC:8845] |
| Ensembl ID | ENSG00000179094 |
| Bio databases IDs | |
| Aliases | period circadian regulator 1 |
| Synonyms | Hftm, hPER, mPer1, m-rigui, PER, period circadian clock 1, period circadian regulator 1, RIGUI, rper1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PER1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- transcription regulator
- nucleic acid binding
- PAS
- transcription factor binding
- chromatin binding
- protein binding
- basic helix loop helix/Per Arnt Sim domain
- sequence-specific DNA binding
- PAS fold
- DNA binding
- kinase binding
- double-stranded DNA binding
- PAS domain
Pathways
Biological processes and signaling networks where the PER1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- infection
- atopic dermatitis
- prostatic carcinoma
- prostate cancer
- epithelial cancer
- Pseudomonas aeruginosa infection
- complicated intra-abdominal infection
- ulcerative colitis
- peripheral T-cell lymphoma
role in cell
- apoptosis
- growth
- expression in
- proliferation
- number
- binding in
- motility
- contact growth inhibition
- adhesion
- transcription in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PER1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cAMP
- regulation of cytokine production involved in inflammatory response
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- regulation of circadian rhythm
- regulation of p38MAPK cascade
- positive regulation of transcription from RNA polymerase II promoter
- circadian rhythm
- negative regulation of JNK cascade
- regulation of hair cycle
- negative regulation of transcription from RNA polymerase II promoter
- posttranscriptional regulation of gene expression
- regulation of sodium ion transport
- circadian regulation of gene expression
- chromatin remodeling
- circadian regulation of translation
- entrainment of circadian clock
- negative regulation of transcription, DNA-dependent
- entrainment of circadian clock by photoperiod
- negative regulation of glucocorticoid receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor binding
- chromatin DNA binding
- protein binding
- ubiquitin protein ligase binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- kinase binding
- E-box binding