Q96SQ7 (ATOH8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ATOH8
Synonyms:	ATH6, BHLHA21

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	321 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein By similarity.
Subcellular location	Nucleus By similarity.
Tissue specificity	Expressed in lung, liver, kidney, heart and pancreas. Expressed in endothel of umbilical vessels. Ref.1
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW nervous system development Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96SQ7-1)

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.

Isoform 2 (identifier: Q96SQ7-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 321	321	Protein atonal homolog 8		PRO_0000323751
Regions
	Domain	230 – 282	53	bHLH
	Compositional bias	69 – 187	119	Pro-rich
Natural variations
	Alternative sequence	321	1	E → SLIITQDTTARAAGLEAAGK TVQKVLCERGNSLMNNRTGR RKSWRLEFLFLRRRCFLLTF YLWFLFFSRFLLMLFLPLLT SVVTFLPPLRARRPPH in isoform 2.		VSP_032118
	Natural variant	150	1	L → P. Ref.1 Ref.2 Ref.4 Corresponds to variant rs17851881 [ dbSNP | Ensembl ].		VAR_039582

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 3, 2009. Version 2. Checksum: 6AEC8043AD8D2075	FASTA	321	34,644
	10 20 30 40 50 60 MKHIPVLEDG PWKTVCVKEL NGLKKLKRKG KEPARRANGY KTFRLDLEAP EPRAVATNGL 70 80 90 100 110 120 RDRTHRLQPV PVPVPVPVPV APAVPPRGGT DTAGERGGSR APEVSDARKR CFALGAVGPG 130 140 150 160 170 180 LPTPPPPPPP APQSQAPGGP EAQPFREPGL RPRILLCAPP ARPAPSAPPA PPAPPESTVR 190 200 210 220 230 240 PAPPTRPGES SYSSISHVIY NNHQDSSASP RKRPGEATAA SSEIKALQQT RRLLANARER 250 260 270 280 290 300 TRVHTISAAF EALRKQVPCY SYGQKLSKLA ILRIACNYIL SLARLADLDY SADHSNLSFS 310 320 ECVQRCTRTL QAEGRAKKRK E
	Isoform 2 [UniParc]. Checksum: AF58E6215A2DB518	FASTA	416	45,801
	10 20 30 40 50 60 MKHIPVLEDG PWKTVCVKEL NGLKKLKRKG KEPARRANGY KTFRLDLEAP EPRAVATNGL 70 80 90 100 110 120 RDRTHRLQPV PVPVPVPVPV APAVPPRGGT DTAGERGGSR APEVSDARKR CFALGAVGPG 130 140 150 160 170 180 LPTPPPPPPP APQSQAPGGP EAQPFREPGL RPRILLCAPP ARPAPSAPPA PPAPPESTVR 190 200 210 220 230 240 PAPPTRPGES SYSSISHVIY NNHQDSSASP RKRPGEATAA SSEIKALQQT RRLLANARER 250 260 270 280 290 300 TRVHTISAAF EALRKQVPCY SYGQKLSKLA ILRIACNYIL SLARLADLDY SADHSNLSFS 310 320 330 340 350 360 ECVQRCTRTL QAEGRAKKRK SLIITQDTTA RAAGLEAAGK TVQKVLCERG NSLMNNRTGR 370 380 390 400 410 RKSWRLEFLF LRRRCFLLTF YLWFLFFSRF LLMLFLPLLT SVVTFLPPLR ARRPPH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 154-321 (ISOFORM 2). Tissue: Amygdala.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00045865. IPI00470409.
RefSeq	NP_116216.2. NM_032827.6.
UniGene	Hs.135569.
3D structure databases
ProteinModelPortal	Q96SQ7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96SQ7. 1 interaction.
STRING	9606.ENSP00000304676.
Polymorphism databases
DMDM	224471820.
Proteomic databases
PaxDb	Q96SQ7.
PRIDE	Q96SQ7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306279; ENSP00000304676; ENSG00000168874.
GeneID	84913.
KEGG	hsa:84913.
UCSC	uc002sqm.4. human. uc002sqn.3. human.
Organism-specific databases
CTD	84913.
GeneCards	GC02P085978.
HGNC	HGNC:24126. ATOH8.
neXtProt	NX_Q96SQ7.
PharmGKB	PA134904746.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG311369.
HOGENOM	HOG000034181.
HOVERGEN	HBG095605.
KO	K09084.
OMA	ETQPFRE.
OrthoDB	EOG4H9XN2.
PhylomeDB	Q96SQ7.
Gene expression databases
Bgee	Q96SQ7.
CleanEx	HS_ATOH8.
Genevestigator	Q96SQ7.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	84913.
NextBio	75304.

Entry information

Entry name

ATOH8_HUMAN

Accession

Primary (citable) accession number: Q96SQ7
Secondary accession number(s): Q504S2, Q659B0

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	March 3, 2009
Last modified:	May 1, 2013
This is version 97 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.