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Q96SQ7

- ATOH8_HUMAN

UniProt

Q96SQ7 - ATOH8_HUMAN

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Protein

Protein atonal homolog 8

Gene

ATOH8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Putative transcription factor. May be implicated in specification and differentiation of neuronal cell lineages in the brain. May participate in kidney development and may be involved in podocyte differentiation (By similarity).By similarity

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. nervous system development Source: UniProtKB-KW
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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-6
Short name:
hATH6
Gene namesi
Name:ATOH8
Synonyms:ATH6, BHLHA21
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:24126. ATOH8.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134904746.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 321321Protein atonal homolog 8PRO_0000323751Add
BLAST

Proteomic databases

PaxDbiQ96SQ7.
PRIDEiQ96SQ7.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ96SQ7.
CleanExiHS_ATOH8.
GenevestigatoriQ96SQ7.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.By similarity

Protein-protein interaction databases

BioGridi124350. 2 interactions.
IntActiQ96SQ7. 1 interaction.
STRINGi9606.ENSP00000304676.

Structurei

3D structure databases

ProteinModelPortaliQ96SQ7.
SMRiQ96SQ7. Positions 231-285.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini230 – 28253bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi69 – 187119Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG311369.
GeneTreeiENSGT00440000034222.
HOGENOMiHOG000034181.
HOVERGENiHBG095605.
InParanoidiQ96SQ7.
KOiK09084.
OMAiETQPFRE.
OrthoDBiEOG73NG5F.
PhylomeDBiQ96SQ7.
TreeFamiTF324848.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501L → P.3 Publications
Corresponds to variant rs17851881 [ dbSNP | Ensembl ].
VAR_039582

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei321 – 3211E → SLIITQDTTARAAGLEAAGK TVQKVLCERGNSLMNNRTGR RKSWRLEFLFLRRRCFLLTF YLWFLFFSRFLLMLFLPLLT SVVTFLPPLRARRPPH in isoform 2. 1 PublicationVSP_032118

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002sqm.4. human. [Q96SQ7-2]
uc002sqn.3. human. [Q96SQ7-1]

Polymorphism databases

DMDMi224471820.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.135569.

3D structure databases

ProteinModelPortali Q96SQ7.
SMRi Q96SQ7. Positions 231-285.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124350. 2 interactions.
IntActi Q96SQ7. 1 interaction.
STRINGi 9606.ENSP00000304676.

Polymorphism databases

DMDMi 224471820.

Proteomic databases

PaxDbi Q96SQ7.
PRIDEi Q96SQ7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306279 ; ENSP00000304676 ; ENSG00000168874 . [Q96SQ7-1 ]
GeneIDi 84913.
KEGGi hsa:84913.
UCSCi uc002sqm.4. human. [Q96SQ7-2 ]
uc002sqn.3. human. [Q96SQ7-1 ]

Organism-specific databases

CTDi 84913.
GeneCardsi GC02P085978.
HGNCi HGNC:24126. ATOH8.
neXtProti NX_Q96SQ7.
PharmGKBi PA134904746.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG311369.
GeneTreei ENSGT00440000034222.
HOGENOMi HOG000034181.
HOVERGENi HBG095605.
InParanoidi Q96SQ7.
KOi K09084.
OMAi ETQPFRE.
OrthoDBi EOG73NG5F.
PhylomeDBi Q96SQ7.
TreeFami TF324848.

Miscellaneous databases

GenomeRNAii 84913.
NextBioi 75304.
PROi Q96SQ7.

Gene expression databases

Bgeei Q96SQ7.
CleanExi HS_ATOH8.
Genevestigatori Q96SQ7.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Gene expression profile of human endothelial cells exposed to sustained fluid shear stress."
    Wasserman S.M., Mehraban F., Komuves L.G., Yang R.B., Tomlinson J.E., Zhang Y., Spriggs F., Topper J.N.
    Physiol. Genomics 12:13-23(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-150, TISSUE SPECIFICITY.
    Tissue: Umbilical vein.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-150.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-150.
    Tissue: Muscle and Retinal pigment epithelium.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 154-321 (ISOFORM 2).
    Tissue: Amygdala.

Entry informationi

Entry nameiATOH8_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 107 of the entry and version 2 of the sequence. [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
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3