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 Q5TA89

Entry ID Method Resolution Chain Position Source
AF-Q5TA89-F1 Predicted AlphaFoldDB

155 variants for Q5TA89

Variant ID(s) Position Change Description Diseaes Association Provenance
CA541084
rs376151919
2 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1171036406
CA337998943
3 P>L No gnomAD
ClinGen
CA337998939
rs1434198675
4 S>G No gnomAD
ClinGen
rs1350014175
CA337998920
5 T>S No TOPMed
ClinGen
rs761617059
CA541083
7 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 8 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA541080
rs374481404
8 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA16949137
rs911300495
9 E>K No Ensembl
ClinGen
CA337998875
rs1256956275
11 L>V No gnomAD
ClinGen
rs770377114
CA541078
12 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 14 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA541077
rs746394534
16 K>E No ExAC
gnomAD
ClinGen
CA16949131
rs1033348989
16 K>R No ClinGen
TOPMed
rs1205799660
CA337998790
18 R>Q No gnomAD
ClinGen
CA337998721
rs753373048
20 R>L No ClinGen
ExAC
gnomAD
CA541041
rs753373048
20 R>Q No ClinGen
ExAC
gnomAD
rs1224041687
CA337998724
20 R>W No ClinGen
gnomAD
rs1385343399
CA337998719
21 K>Q No gnomAD
ClinGen
CA541038
rs773669311
23 V>A No ExAC
TOPMed
gnomAD
ClinGen
CA337998614
rs1380721046
27 M>I No gnomAD
ClinGen
rs1274311018
CA337998624
27 M>L No TOPMed
ClinGen
CA337998620
rs1234649558
27 M>T No TOPMed
ClinGen
rs1333359977
CA337998610
28 R>S No TOPMed
ClinGen
COSM3943783
CA541036
rs762103606
29 R>C ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA541034
rs201320010
30 D>A No ClinGen
1000Genomes
ExAC
gnomAD
CA16949016
rs889804585
30 D>E No ClinGen
TOPMed
gnomAD
CA337998590
rs1478611953
30 D>N No ClinGen
gnomAD
CA16949014
rs866186692
31 R>H No ClinGen
gnomAD
CA337998570
rs866186692
31 R>L No ClinGen
gnomAD
rs749379887
CA541033
34 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs780153699
CA541032
36 I>M No ExAC
gnomAD
ClinGen
rs1200976594
CA337998506
37 E>K No gnomAD
ClinGen
CA337998479
rs1254053214
38 Q>H No gnomAD
ClinGen
rs1346988024
CA337998482
38 Q>R No gnomAD
ClinGen
CA541030
rs746969697
40 K>N No ClinGen
ExAC
gnomAD
rs769957671
CA541031
40 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA337998453
rs1412391732
41 L>V No TOPMed
ClinGen
rs1298702030
CA337998435
43 L>V No ClinGen
gnomAD
CA541029
rs199741438
44 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA337998427
rs1437535393
44 E>Q No ClinGen
TOPMed
gnomAD
CA541026
rs778489792
46 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1302863026
CA337998401
46 E>K No gnomAD
ClinGen
CA541027
rs747971857
46 E>V No ClinGen
ExAC
gnomAD
rs754633773
CA541025
47 F>C No ExAC
gnomAD
ClinGen
CA337998377
rs1465888071
47 F>L No ClinGen
gnomAD
rs753325453
CA541024
48 A>P No ClinGen
ExAC
gnomAD
rs1190173761
CA337998369
48 A>V No gnomAD
ClinGen
CA541022
rs199682108
49 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs199682108
CA16948983
49 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA541023
rs765901251
49 R>W No ExAC
gnomAD
ClinGen
CA541021
rs573666488
50 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1249646268
CA337998340
51 Q>R No ClinGen
TOPMed
CA337998333
rs762230250
52 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA337998324
rs1199802332
52 P>L No ClinGen
TOPMed
gnomAD
CA541019
rs762230250
52 P>S No ExAC
TOPMed
gnomAD
ClinGen
rs764265290
CA541017
53 N>T No ExAC
gnomAD
ClinGen
CA541015
rs775526036
54 S>C No ExAC
gnomAD
ClinGen
CA541016
rs556965399
54 S>P No 1000Genomes
ExAC
gnomAD
ClinGen
CA337998293
rs1350066544
55 K>R No TOPMed
ClinGen
rs770012439
CA541014
56 L>V No ExAC
TOPMed
gnomAD
ClinGen
CA337998251
rs745880943
58 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA16948966
rs778367486
58 K>T No ClinGen
gnomAD
rs764855346
CA541012
59 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA337998249
rs764855346
59 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA541011
rs772125059
60 D>G No ClinGen
ExAC
gnomAD
rs747940054
CA541010
61 I>V No ClinGen
ExAC
gnomAD
rs779623635
CA541006
COSM1667082
64 M>I breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748987789
CA541007
64 M>T No ClinGen
ExAC
gnomAD
rs1473533385
CA337998196
64 M>V No gnomAD
ClinGen
rs1483305735
CA337998185
65 A>T No gnomAD
ClinGen
rs1202695844
CA337998159
67 S>T No ClinGen
gnomAD
rs755624177
CA541005
68 Y>H No ClinGen
ExAC
gnomAD
rs1415696299
CA337998133
69 L>P No ClinGen
TOPMed
rs1447816061
CA337998116
71 H>N No ClinGen
gnomAD
rs1233214944
CA337998100
72 S>N No TOPMed
gnomAD
ClinGen
rs1021201777
CA16948946
74 A>T No TOPMed
gnomAD
ClinGen
CA16948903
rs896087687
76 V>A No ClinGen
TOPMed
rs779746892
CA337998031
76 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA540986
rs779746892
76 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs1192668050
CA337998018
78 A>T No ClinGen
gnomAD
rs1291780492
CA337998013
78 A>V No ClinGen
TOPMed
rs745424451
CA540984
81 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs745424451
CA337997987
81 P>S No ExAC
TOPMed
gnomAD
ClinGen
rs780713859
CA540983
83 S>R No ExAC
TOPMed
gnomAD
ClinGen
CA337997927
rs1557456823
86 Q>E No Ensembl
ClinGen
rs926290877
CA16948895
87 D>E No TOPMed
ClinGen
rs1158632818
CA337997916
87 D>N No ClinGen
TOPMed
rs1190028370
CA337997879
89 S>R No TOPMed
ClinGen
CA540982
rs756674081
90 E>K No ClinGen
ExAC
gnomAD
CA337997839
rs1316807197
93 S>A No ClinGen
TOPMed
gnomAD
rs752121812
CA540981
93 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs913614442
CA16948884
94 W>C No TOPMed
gnomAD
ClinGen
CA337997823
rs1208957959
95 C>S No TOPMed
ClinGen
CA337997807
rs1302318042
96 L>P No gnomAD
ClinGen
CA337997793
rs1298534855
97 Q>H No TOPMed
ClinGen
rs988398485
CA16948880
99 A>T No TOPMed
gnomAD
ClinGen
CA337997764
rs1453006708
100 V>M No ClinGen
gnomAD
CA337997751
rs1359623062
101 Q>* No ClinGen
gnomAD
CA337997744
rs1165727910
101 Q>H No TOPMed
gnomAD
ClinGen
rs1432651303
CA337997726
103 L>P No ClinGen
TOPMed
CA337997718
rs1178103718
104 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1320221304
CA337997707
106 H>R No ClinGen
TOPMed
CA337997709
rs1412609512
106 H>Y No ClinGen
gnomAD
rs1173261363
CA337997701
107 A>P No gnomAD
ClinGen
rs1450250369
CA337997691
108 A>S No TOPMed
gnomAD
ClinGen
rs1450250369
CA337997693
108 A>T No TOPMed
gnomAD
ClinGen
CA337997681
rs1347076967
109 S>R No ClinGen
TOPMed
TCGA novel 110 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs986028820
CA16948872
110 D>N No TOPMed
gnomAD
ClinGen
rs1413930504
CA337997652
111 T>K No TOPMed
ClinGen
CA337997627
rs1448117650
113 M>T No TOPMed
ClinGen
CA337997630
rs1184270454
113 M>V No ClinGen
TOPMed
gnomAD
CA337997570
rs1485569287
118 H>Y No TOPMed
gnomAD
ClinGen
CA540978
rs753102026
120 Q>R No ExAC
gnomAD
ClinGen
rs1027647005
CA16948866
121 R>W No TOPMed
gnomAD
ClinGen
rs1208848205
CA337997525
122 P>L No ClinGen
TOPMed
TCGA novel 123 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867697758
CA337997496
125 A>P No gnomAD
ClinGen
rs867697758
CA16948861
125 A>T No gnomAD
ClinGen
rs1483311413
CA337997444
130 A>S No ClinGen
TOPMed
gnomAD
rs1301257329
CA337997432
131 K>E No TOPMed
ClinGen
rs1304571819
CA337997428
131 K>T No ClinGen
TOPMed
gnomAD
CA16948848
rs1014986514
134 K>T No TOPMed
ClinGen
rs1014849600
CA16948845
135 A>S No ClinGen
TOPMed
rs1014849600
CA337997380
135 A>T No TOPMed
ClinGen
CA337997374
rs1374628915
135 A>V No gnomAD
ClinGen
CA337997367
rs1171602558
136 P>R No ClinGen
TOPMed
CA337997353
rs1202707316
138 A>T No gnomAD
ClinGen
CA337997318
rs1483330478
141 P>Q No ClinGen
TOPMed
CA16948840
rs529118406
141 P>S No 1000Genomes
TOPMed
gnomAD
ClinGen
CA337997301
rs1271306832
143 A>T No TOPMed
ClinGen
rs942995118
CA16948837
144 L>F No ClinGen
TOPMed
gnomAD
CA16948834
rs567343294
145 S>C No ClinGen
1000Genomes
rs550513919
CA16948833
146 A>V No 1000Genomes
TOPMed
ClinGen
CA337997238
rs1265711380
149 T>A No ClinGen
TOPMed
gnomAD
rs904751282
CA16948828
150 A>D No ClinGen
TOPMed
gnomAD
CA16948830
rs937587295
150 A>T No TOPMed
gnomAD
ClinGen
rs1043787911
CA16948825
152 A>P No ClinGen
TOPMed
rs1319469098
CA337997198
153 A>T No ClinGen
gnomAD
CA337997182
rs1289608156
154 A>T No gnomAD
ClinGen
rs1463857688
CA337997179
154 A>V No ClinGen
TOPMed
rs1230787389
CA337997173
155 A>G No ClinGen
TOPMed
gnomAD
rs1230787389
CA337997171
155 A>V No TOPMed
gnomAD
ClinGen
rs1487414460
CA337997159
156 H>Q No TOPMed
ClinGen
CA337997168
rs1351599195
156 H>Y No TOPMed
gnomAD
ClinGen
CA337997146
rs1264611661
157 Q>H No ClinGen
TOPMed
rs530921518
CA16948814
158 P>H No 1000Genomes
gnomAD
ClinGen
rs530921518
CA337997138
158 P>L No 1000Genomes
gnomAD
ClinGen
rs1244385331
CA337997133
159 A>T No ClinGen
TOPMed
rs1335771036
CA337997123
159 A>V No TOPMed
ClinGen
CA337997116
rs1570560700
160 C>Y No ClinGen
Ensembl
rs1390078712
CA337997098
162 L>I No TOPMed
gnomAD
ClinGen
CA16948811
rs1052180176
162 L>P No TOPMed
ClinGen
rs1390078712
CA337997097
162 L>V No ClinGen
TOPMed
gnomAD
CA337997057
rs1393313834
165 P>H No ClinGen
gnomAD

No associated diseases with Q5TA89

2 regional properties for Q5TA89

Type Name Position InterPro Accession
domain Orange domain 86 - 128 IPR003650
domain Myc-type, basic helix-loop-helix (bHLH) domain 16 - 78 IPR011598

Functions

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

2 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

6 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
protein dimerization activity The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
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 double-stranded DNA binding Binding to double-stranded 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.

46 GO annotations of biological process

Name Definition
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.
astrocyte differentiation The process in which a relatively unspecialized cell acquires the specialized features of an astrocyte. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function.
BMP signaling pathway The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field.
cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.
central nervous system myelination The process in which neuronal axons and dendrites become coated with a segmented lipid-rich sheath (myelin) to enable faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of oligodendrocytes in the central nervous system. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
comma-shaped body morphogenesis The process in which the comma-shaped body is generated and organized. The comma-shaped body is the precursor structure to the S-shaped body that contributes to the morphogenesis of the nephron.
establishment of epithelial cell polarity The specification and formation of anisotropic intracellular organization of an epithelial cell.
forebrain radial glial cell differentiation The process in which neuroepithelial cells of the neural tube give rise to radial glial cells, specialized bipotential progenitors cells of the forebrain. Differentiation includes the processes involved in commitment of a cell to a specific fate.
glial cell fate commitment The process in which the developmental fate of a cell becomes restricted such that it will develop into a glial cell.
inner ear auditory receptor cell differentiation The process in which a relatively unspecialized inner cell acquires specialized features of an auditory hair cell.
inner ear receptor cell stereocilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a stereocilium. A stereocilium is an actin-based protrusion from the apical surface of inner ear receptor cells.
metanephric nephron tubule morphogenesis The process in which the anatomical structures of a metanephric nephron tubule are generated and organized. A metanephric nephron tubule is an epithelial tube that is part of the metanephric nephron, the functional part of the metanephros.
negative regulation of astrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of astrocyte differentiation.
negative regulation of forebrain neuron differentiation Any process that stops, prevents or reduces the frequency, rate or extent of forebrain neuron differentiation.
negative regulation of inner ear auditory receptor cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of auditory hair cell differentiation.
negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.
negative regulation of oligodendrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation.
negative regulation of pro-B cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of pro-B cell differentiation.
negative regulation of stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation.
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.
neural tube development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium.
neuronal stem cell population maintenance Any process in by an organism or tissue maintains a population of neuronal stem cells.
Notch signaling pathway The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
oligodendrocyte development The process aimed at the progression of an oligodendrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An oligodendrocyte is a type of glial cell involved in myelinating the axons in the central nervous system.
positive regulation of BMP signaling pathway Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
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 Notch signaling pathway Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway.
positive regulation of receptor signaling pathway via JAK-STAT Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity.
positive regulation of smooth muscle cell proliferation Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
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.
positive regulation of tyrosine phosphorylation of STAT protein Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features.
regulation of epithelial cell proliferation Any process that modulates the frequency, rate or extent of epithelial cell proliferation.
regulation of myelination Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
regulation of neurogenesis Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
S-shaped body morphogenesis The process in which the S-shaped body is generated and organized. The S-shaped body is the successor of the comma-shaped body that contributes to the morphogenesis of the nephron.
smoothened signaling pathway The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.
specification of loop of Henle identity The process in which the loop of Henle of the kidney nephron acquires its identity.
telencephalon development The process whose specific outcome is the progression of the telencephalon over time, from its formation to the mature structure. The telencephalon is the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P14003 h Protein hairy Drosophila melanogaster (Fruit fly) PR
Q9Y543 HES2 Transcription factor HES-2 Homo sapiens (Human) PR
Q03062 Hes5 Transcription factor HES-5 Rattus norvegicus (Rat) PR
Q18053 hlh-26 Helix-loop-helix protein 26 Caenorhabditis elegans PR
10 20 30 40 50 60
MAPSTVAVEL LSPKEKNRLR KPVVEKMRRD RINSSIEQLK LLLEQEFARH QPNSKLEKAD
70 80 90 100 110 120
ILEMAVSYLK HSKAFVAAAG PKSLHQDYSE GYSWCLQEAV QFLTLHAASD TQMKLLYHFQ
130 140 150 160
RPPAAPAAPA KEPKAPGAAP PPALSAKATA AAAAAHQPAC GLWRPW