Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P43135

Entry ID Method Resolution Chain Position Source
AF-P43135-F1 Predicted AlphaFoldDB

8 variants for P43135

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3398065111 10 D>A No EVA
rs3388918760 161 H>Q No EVA
rs3388909659 219 M>V No EVA
rs3388918803 235 D>V No EVA
rs3388917615 249 W>L No EVA
rs3413051403 254 V>M No EVA
rs3398238223 264 L>P No EVA
rs16808747 332 A>P No EVA

1 associated diseases with P43135

[MIM: 615224]: Advanced sleep phase syndrome, familial, 2 (FASPS2)

An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269|PubMed:15800623, ECO:0000269|PubMed:23636092}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269|PubMed:15800623, ECO:0000269|PubMed:23636092}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P43135

Type Name Position InterPro Accession
domain Protein kinase domain 9 - 287 IPR000719
active_site Serine/threonine-protein kinase, active site 124 - 136 IPR008271
binding_site Protein kinase, ATP binding site 15 - 38 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

8 GO annotations of molecular function

Name Definition
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
nuclear receptor activity A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus.
protein homodimerization activity Binding to an identical protein to form a homodimer.
retinoic acid binding Binding to retinoic acid, 3,7-dimethyl-9-(2,6,-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
zinc ion binding Binding to a zinc ion (Zn).

28 GO annotations of biological process

Name Definition
anatomical structure development The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome.
anterior/posterior pattern specification The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
female gonad development The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure.
fertilization The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).
forebrain development The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
interneuron migration The orderly movement of an interneuron from one site to another.
lymph vessel development The process whose specific outcome is the progression of a lymph vessel over time, from its formation to the mature structure.
lymphatic endothelial cell fate commitment The commitment of a venous blood vessel endothelial cell to a lymphatic endothelial cell fate and its capacity to differentiate into a lymphatic endothelial cell.
maternal placenta development Maternally driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
negative regulation of cyclin-dependent protein serine/threonine kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of endothelial cell migration Any process that decreases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
negative regulation of endothelial cell proliferation Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
placenta blood vessel development The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of systemic arterial blood pressure The process that increases the force with which blood travels through the systemic arterial circulatory system.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
radial pattern formation The regionalization process that results in defined areas around a point in which specific types of cell differentiation will occur.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to estradiol Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
skeletal muscle tissue development The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers.
trophoblast giant cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a trophoblast giant cell of the placenta. Trophoblast giant cells are the cell of the placenta that line the maternal decidua.

29 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O18971 PPARG Peroxisome proliferator-activated receptor gamma Bos taurus (Bovine) PR
Q9TTR7 NR2F2 COUP transcription factor 2 Bos taurus (Bovine) PR
P68306 THRB Thyroid hormone receptor beta Gallus gallus (Chicken) PR
Q90733 NR2F2 COUP transcription factor 2 Gallus gallus (Chicken) PR
A7X8B3 PGR Progesterone receptor Pan troglodytes (Chimpanzee) SS
P37231 PPARG Peroxisome proliferator-activated receptor gamma Homo sapiens (Human) PR
P10588 NR2F6 Nuclear receptor subfamily 2 group F member 6 Homo sapiens (Human) PR
P06401 PGR Progesterone receptor Homo sapiens (Human) EV
P10589 NR2F1 COUP transcription factor 1 Homo sapiens (Human) PR
O75469 NR1I2 Nuclear receptor subfamily 1 group I member 2 Homo sapiens (Human) PR
P49116 NR2C2 Nuclear receptor subfamily 2 group C member 2 Homo sapiens (Human) PR
P24468 NR2F2 COUP transcription factor 2 Homo sapiens (Human) PR
P35396 Ppard Peroxisome proliferator-activated receptor delta Mus musculus (Mouse) PR
Q00175 Pgr Progesterone receptor Mus musculus (Mouse) SS
Q9Z0Y9 Nr1h3 Oxysterols receptor LXR-alpha Mus musculus (Mouse) PR
P43136 Nr2f6 Nuclear receptor subfamily 2 group F member 6 Mus musculus (Mouse) PR
P49698 Hnf4a Hepatocyte nuclear factor 4-alpha Mus musculus (Mouse) PR
O62807 PPARG Peroxisome proliferator-activated receptor gamma Sus scrofa (Pig) PR
Q63449 Pgr Progesterone receptor Rattus norvegicus (Rat) SS
O09018 Nr2f2 COUP transcription factor 2 Rattus norvegicus (Rat) PR
Q8SQ01 NR1I2 Nuclear receptor subfamily 1 group I member 2 Macaca mulatta (Rhesus macaque) PR
G5EFF5 daf-12 Nuclear hormone receptor family member daf-12 Caenorhabditis elegans PR
O45460 nhr-54 Nuclear hormone receptor family member nhr-54 Caenorhabditis elegans PR
Q20765 nhr-7 Nuclear hormone receptor family member nhr-7 Caenorhabditis elegans PR
Q21006 nhr-34 Nuclear hormone receptor family member nhr-34 Caenorhabditis elegans PR
O17928 nhr-52 Nuclear hormone receptor family member nhr-52 Caenorhabditis elegans PR
Q21878 nhr-1 Nuclear hormone receptor family member nhr-1 Caenorhabditis elegans PR
O18141 nhr-79 Nuclear hormone receptor family member nhr-79 Caenorhabditis elegans PR
Q6PH18 nr2f1b Nuclear receptor subfamily 2 group F member 1-B Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAMVVSTWRD PQDEVPGSQG SQASQAPPVP GPPPGAPHTP QTPGQGGPAS TPAQTAAGGQ
70 80 90 100 110 120
GGPGGPGSDK QQQQQHIECV VCGDKSSGKH YGQFTCEGCK SFFKRSVRRN LSYTCRANRN
130 140 150 160 170 180
CPIDQHHRNQ CQYCRLKKCL KVGMRREAVQ RGRMPPTQPT HGQFALTNGD PLNCHSYLSG
190 200 210 220 230 240
YISLLLRAEP YPTSRFGSQC MQPNNIMGIE NICELAARML FSAVEWARNI PFFPDLQITD
250 260 270 280 290 300
QVALLRLTWS ELFVLNAAQC SMPLHVAPLL AAAGLHASPM SADRVVAFMD HIRIFQEQVE
310 320 330 340 350 360
KLKALHVDSA EYSCLKAIVL FTSDACGLSD VAHVESLQEK SQCALEEYVR SQYPNQPTRF
370 380 390 400 410
GKLLLRLPSL RTVSSSVIEQ LFFVRLVGKT PIETLIRDML LSGSSFNWPY MAIQ