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Protein

Protein atonal homolog 8

Gene

ATOH8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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 Publications

Caution

Contains a degenerate basic motif not likely to bind DNA.PROSITE-ProRule annotation

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Protein atonal homolog 8
Alternative name(s):
Class A basic helix-loop-helix protein 21
Short name:
bHLHa21
Helix-loop-helix protein hATH-6Imported
Short name:
hATH61 Publication
Gene namesi
Name:ATOH8Imported
Synonyms:ATH6, BHLHA21
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000168874.12
HGNCiHGNC:24126 ATOH8
neXtProtiNX_Q96SQ7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84913
OpenTargetsiENSG00000168874
PharmGKBiPA134904746

Polymorphism and mutation databases

BioMutaiATOH8
DMDMi224471820

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003237511 – 321Protein atonal homolog 8Add BLAST321

Proteomic databases

PaxDbiQ96SQ7
PeptideAtlasiQ96SQ7
PRIDEiQ96SQ7
ProteomicsDBi78136
78137 [Q96SQ7-2]

PTM databases

iPTMnetiQ96SQ7
PhosphoSitePlusiQ96SQ7

Expressioni

Tissue specificityi

Expressed in lung, liver, kidney, heart and pancreas. Expressed in endothel of umbilical vessels.1 Publication

Gene expression databases

BgeeiENSG00000168874 Expressed in 184 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_ATOH8
GenevisibleiQ96SQ7 HS

Organism-specific databases

HPAiHPA028406

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 similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124350, 2 interactors
IntActiQ96SQ7, 1 interactor
STRINGi9606.ENSP00000304676

Structurei

3D structure databases

ProteinModelPortaliQ96SQ7
SMRiQ96SQ7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini230 – 282bHLHPROSITE-ProRule annotationAdd BLAST53

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni230 – 243Basic motif; degeneratePROSITE-ProRule annotationAdd BLAST14
Regioni244 – 282Helix-loop-helix motifPROSITE-ProRule annotationAdd BLAST39

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi69 – 187Pro-richPROSITE-ProRule annotationAdd BLAST119

Domaini

The bHLH domain mediates transcriptional repression by inhibiting TCF3 transcriptional activity through heterodimerization.By similarity

Phylogenomic databases

eggNOGiENOG410IQ4E Eukaryota
ENOG4111WSZ LUCA
GeneTreeiENSGT00680000099860
HOGENOMiHOG000034181
HOVERGENiHBG095605
InParanoidiQ96SQ7
KOiK09084
OMAiETQPFRE
OrthoDBiEOG091G167Y
PhylomeDBiQ96SQ7
TreeFamiTF324848

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR032660 ATOH8
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PANTHERiPTHR19290:SF102 PTHR19290:SF102, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96SQ7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:321
Mass (Da):34,644
Last modified:March 3, 2009 - v2
Checksum:i6AEC8043AD8D2075
GO
Isoform 2 (identifier: Q96SQ7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     321-321: E → SLIITQDTTA...PPLRARRPPH

Note: No experimental confirmation available.
Show »
Length:416
Mass (Da):45,801
Checksum:iAF58E6215A2DB518
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039582150L → P3 PublicationsCorresponds to variant dbSNP:rs17851881Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032118321E → SLIITQDTTARAAGLEAAGK TVQKVLCERGNSLMNNRTGR RKSWRLEFLFLRRRCFLLTF YLWFLFFSRFLLMLFLPLLT SVVTFLPPLRARRPPH in isoform 2. 1 Publication1

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
CCDSiCCDS1985.1 [Q96SQ7-1]
RefSeqiNP_116216.2, NM_032827.6 [Q96SQ7-1]
UniGeneiHs.135569

Genome annotation databases

EnsembliENST00000306279; ENSP00000304676; ENSG00000168874 [Q96SQ7-1]
GeneIDi84913
KEGGihsa:84913
UCSCiuc002sqn.4 human [Q96SQ7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS1985.1 [Q96SQ7-1]
RefSeqiNP_116216.2, NM_032827.6 [Q96SQ7-1]
UniGeneiHs.135569

3D structure databases

ProteinModelPortaliQ96SQ7
SMRiQ96SQ7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124350, 2 interactors
IntActiQ96SQ7, 1 interactor
STRINGi9606.ENSP00000304676

PTM databases

iPTMnetiQ96SQ7
PhosphoSitePlusiQ96SQ7

Polymorphism and mutation databases

BioMutaiATOH8
DMDMi224471820

Proteomic databases

PaxDbiQ96SQ7
PeptideAtlasiQ96SQ7
PRIDEiQ96SQ7
ProteomicsDBi78136
78137 [Q96SQ7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306279; ENSP00000304676; ENSG00000168874 [Q96SQ7-1]
GeneIDi84913
KEGGihsa:84913
UCSCiuc002sqn.4 human [Q96SQ7-1]

Organism-specific databases

CTDi84913
DisGeNETi84913
EuPathDBiHostDB:ENSG00000168874.12
GeneCardsiATOH8
HGNCiHGNC:24126 ATOH8
HPAiHPA028406
neXtProtiNX_Q96SQ7
OpenTargetsiENSG00000168874
PharmGKBiPA134904746
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ4E Eukaryota
ENOG4111WSZ LUCA
GeneTreeiENSGT00680000099860
HOGENOMiHOG000034181
HOVERGENiHBG095605
InParanoidiQ96SQ7
KOiK09084
OMAiETQPFRE
OrthoDBiEOG091G167Y
PhylomeDBiQ96SQ7
TreeFamiTF324848

Miscellaneous databases

GenomeRNAii84913
PROiPR:Q96SQ7

Gene expression databases

BgeeiENSG00000168874 Expressed in 184 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_ATOH8
GenevisibleiQ96SQ7 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR032660 ATOH8
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PANTHERiPTHR19290:SF102 PTHR19290:SF102, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATOH8_HUMAN
AccessioniPrimary (citable) accession number: Q96SQ7
Secondary accession number(s): Q504S2, Q659B0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 3, 2009
Last modified: November 7, 2018
This is version 134 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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