UniProtKB - Q96SQ7 (ATOH8_HUMAN)
Transcription factor ATOH8
ATOH8
Functioni
Transcription factor that binds a palindromic (canonical) core consensus DNA sequence 5'-CANNTG- 3' known as an E-box element, possibly as a heterodimer with other bHLH proteins (PubMed:24236640).
Regulates endothelial cell proliferation, migration and tube-like structures formation (PubMed:24463812).
Modulates endothelial cell differentiation through NOS3 (PubMed:24463812).
May be implicated in specification and differentiation of neuronal cell lineages in the brain (By similarity).
May participate in kidney development and may be involved in podocyte differentiation (By similarity).
During early embryonic development is involved in tissue-specific differentiation processes that are dependent on class II bHLH factors and namely modulates the differentiation program initiated by the pro-endocrine factor NEUROG3 (By similarity).
During myogenesis, may play a role during the transition of myoblasts from the proliferative phase to the differentiation phase (By similarity).
Positively regulates HAMP transcription in two ways, firstly by acting directly on the HAMP promoter via E-boxes binding and indirectly through increased phosphorylation of SMAD protein complex (PubMed:24236640).
Repress NEUROG3-dependent gene activation in a gene-specific manner through at least two mechanisms; requires only either the sequestering of a general partner such as TCF3 through heterodimerization, either also requires binding of the bHLH domain to DNA via a basic motif (By similarity).
By similarity2 PublicationsCaution
GO - Molecular functioni
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor binding Source: Ensembl
- E-box binding Source: UniProtKB
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- formation of primary germ layer Source: UniProtKB
- myoblast proliferation Source: UniProtKB
- negative regulation of endothelial cell proliferation Source: UniProtKB
- negative regulation of gene expression Source: BHF-UCL
- negative regulation of transcription, DNA-templated Source: UniProtKB
- neuron differentiation Source: GO_Central
- positive regulation of endothelial cell differentiation Source: UniProtKB
- positive regulation of endothelial cell migration Source: UniProtKB
- positive regulation of miRNA transcription Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- SMAD protein signal transduction Source: UniProtKB
- tube formation Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q96SQ7 |
SignaLinki | Q96SQ7 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor ATOH8CuratedAlternative name(s): Class A basic helix-loop-helix protein 21Imported Short name: bHLHa21Imported Helix-loop-helix protein hATH-6Imported Short name: hATH61 Publication Protein atonal homolog 8Imported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24126, ATOH8 |
neXtProti | NX_Q96SQ7 |
VEuPathDBi | HostDB:ENSG00000168874 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Nucleus
- Nucleus 1 Publication
- Nucleus speckle 1 Publication
Nucleus
- nuclear speck Source: UniProtKB-SubCell
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 84913 |
OpenTargetsi | ENSG00000168874 |
PharmGKBi | PA134904746 |
Miscellaneous databases
Pharosi | Q96SQ7, Tbio |
Genetic variation databases
BioMutai | ATOH8 |
DMDMi | 224471820 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000323751 | 1 – 321 | Transcription factor ATOH8Add BLAST | 321 |
Proteomic databases
jPOSTi | Q96SQ7 |
PaxDbi | Q96SQ7 |
PeptideAtlasi | Q96SQ7 |
PRIDEi | Q96SQ7 |
ProteomicsDBi | 78136 [Q96SQ7-1] 78137 [Q96SQ7-2] |
PTM databases
iPTMneti | Q96SQ7 |
PhosphoSitePlusi | Q96SQ7 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000168874, Expressed in left lobe of thyroid gland and 199 other tissues |
Genevisiblei | Q96SQ7, HS |
Organism-specific databases
HPAi | ENSG00000168874, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Efficient DNA binding requires dimerization with another bHLH protein.
Interacts with NEUROG3 AND NEUROD1.
Interacts with ZFPM2; mediates indirect interaction with GATA4.
Forms a heterodimer with TCF3; repress transcription of TCF3 and TCF3/NEUROG3 dimer-induced transactivation of E box-dependent promoters.
By similarityBinary interactionsi
GO - Molecular functioni
- DNA-binding transcription factor binding Source: Ensembl
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 124350, 2 interactors |
IntActi | Q96SQ7, 4 interactors |
STRINGi | 9606.ENSP00000304676 |
Miscellaneous databases
RNActi | Q96SQ7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 230 – 282 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 59 – 193 | DisorderedSequence analysisAdd BLAST | 135 | |
Regioni | 203 – 222 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 230 – 243 | Basic motif; degeneratePROSITE-ProRule annotationAdd BLAST | 14 | |
Regioni | 244 – 282 | Helix-loop-helix motifPROSITE-ProRule annotationAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 70 – 84 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 119 – 137 | Pro residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 158 – 182 | Pro residuesSequence analysisAdd BLAST | 25 |
Domaini
Phylogenomic databases
eggNOGi | KOG3898, Eukaryota |
GeneTreei | ENSGT00940000161151 |
HOGENOMi | CLU_057987_0_0_1 |
InParanoidi | Q96SQ7 |
OMAi | VCVQELH |
OrthoDBi | 1014108at2759 |
PhylomeDBi | Q96SQ7 |
TreeFami | TF324848 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR032660, ATOH8 IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf |
PANTHERi | PTHR19290:SF102, PTHR19290:SF102, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKHIPVLEDG PWKTVCVKEL NGLKKLKRKG KEPARRANGY KTFRLDLEAP
60 70 80 90 100
EPRAVATNGL RDRTHRLQPV PVPVPVPVPV APAVPPRGGT DTAGERGGSR
110 120 130 140 150
APEVSDARKR CFALGAVGPG LPTPPPPPPP APQSQAPGGP EAQPFREPGL
160 170 180 190 200
RPRILLCAPP ARPAPSAPPA PPAPPESTVR PAPPTRPGES SYSSISHVIY
210 220 230 240 250
NNHQDSSASP RKRPGEATAA SSEIKALQQT RRLLANARER TRVHTISAAF
260 270 280 290 300
EALRKQVPCY SYGQKLSKLA ILRIACNYIL SLARLADLDY SADHSNLSFS
310 320
ECVQRCTRTL QAEGRAKKRK E
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039582 | 150 | L → P3 PublicationsCorresponds to variant dbSNP:rs17851881Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032118 | 321 | E → SLIITQDTTARAAGLEAAGK TVQKVLCERGNSLMNNRTGR RKSWRLEFLFLRRRCFLLTF YLWFLFFSRFLLMLFLPLLT SVVTFLPPLRARRPPH in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF529205 mRNA Translation: AAO85773.1 AK027614 mRNA Translation: BAB55233.1 AK074681 mRNA Translation: BAC11135.1 AC012454 Genomic DNA No translation available. BC021207 mRNA Translation: AAH21207.1 BC094832 mRNA Translation: AAH94832.1 AL831857 mRNA Translation: CAH56263.1 |
CCDSi | CCDS1985.1 [Q96SQ7-1] |
RefSeqi | NP_116216.2, NM_032827.6 [Q96SQ7-1] |
Genome annotation databases
Ensembli | ENST00000306279.4; ENSP00000304676.3; ENSG00000168874.13 |
GeneIDi | 84913 |
KEGGi | hsa:84913 |
MANE-Selecti | ENST00000306279.4; ENSP00000304676.3; NM_032827.7; NP_116216.2 |
UCSCi | uc002sqn.4, human [Q96SQ7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF529205 mRNA Translation: AAO85773.1 AK027614 mRNA Translation: BAB55233.1 AK074681 mRNA Translation: BAC11135.1 AC012454 Genomic DNA No translation available. BC021207 mRNA Translation: AAH21207.1 BC094832 mRNA Translation: AAH94832.1 AL831857 mRNA Translation: CAH56263.1 |
CCDSi | CCDS1985.1 [Q96SQ7-1] |
RefSeqi | NP_116216.2, NM_032827.6 [Q96SQ7-1] |
3D structure databases
AlphaFoldDBi | Q96SQ7 |
SMRi | Q96SQ7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124350, 2 interactors |
IntActi | Q96SQ7, 4 interactors |
STRINGi | 9606.ENSP00000304676 |
PTM databases
iPTMneti | Q96SQ7 |
PhosphoSitePlusi | Q96SQ7 |
Genetic variation databases
BioMutai | ATOH8 |
DMDMi | 224471820 |
Proteomic databases
jPOSTi | Q96SQ7 |
PaxDbi | Q96SQ7 |
PeptideAtlasi | Q96SQ7 |
PRIDEi | Q96SQ7 |
ProteomicsDBi | 78136 [Q96SQ7-1] 78137 [Q96SQ7-2] |
Protocols and materials databases
Antibodypediai | 17011, 135 antibodies from 26 providers |
DNASUi | 84913 |
Genome annotation databases
Ensembli | ENST00000306279.4; ENSP00000304676.3; ENSG00000168874.13 |
GeneIDi | 84913 |
KEGGi | hsa:84913 |
MANE-Selecti | ENST00000306279.4; ENSP00000304676.3; NM_032827.7; NP_116216.2 |
UCSCi | uc002sqn.4, human [Q96SQ7-1] |
Organism-specific databases
CTDi | 84913 |
DisGeNETi | 84913 |
GeneCardsi | ATOH8 |
HGNCi | HGNC:24126, ATOH8 |
HPAi | ENSG00000168874, Tissue enhanced (skeletal) |
neXtProti | NX_Q96SQ7 |
OpenTargetsi | ENSG00000168874 |
PharmGKBi | PA134904746 |
VEuPathDBi | HostDB:ENSG00000168874 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3898, Eukaryota |
GeneTreei | ENSGT00940000161151 |
HOGENOMi | CLU_057987_0_0_1 |
InParanoidi | Q96SQ7 |
OMAi | VCVQELH |
OrthoDBi | 1014108at2759 |
PhylomeDBi | Q96SQ7 |
TreeFami | TF324848 |
Enzyme and pathway databases
PathwayCommonsi | Q96SQ7 |
SignaLinki | Q96SQ7 |
Miscellaneous databases
BioGRID-ORCSi | 84913, 12 hits in 1089 CRISPR screens |
GenomeRNAii | 84913 |
Pharosi | Q96SQ7, Tbio |
PROi | PR:Q96SQ7 |
RNActi | Q96SQ7, protein |
Gene expression databases
Bgeei | ENSG00000168874, Expressed in left lobe of thyroid gland and 199 other tissues |
Genevisiblei | Q96SQ7, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR032660, ATOH8 IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf |
PANTHERi | PTHR19290:SF102, PTHR19290:SF102, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ATOH8_HUMAN | |
Accessioni | Q96SQ7Primary (citable) accession number: Q96SQ7 Secondary accession number(s): Q504S2, Q659B0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | March 3, 2009 | |
Last modified: | May 25, 2022 | |
This is version 152 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports