Q96NK8 (NDF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neurogenic differentiation factor 6
Short name=NeuroD6

Alternative name(s):
Class A basic helix-loop-helix protein 2
Short name=bHLHa2
Protein atonal homolog 2

Gene names

Name:	NEUROD6
Synonyms:	ATOH2, BHLHA2
ORF Names:	My051

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	337 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene By similarity.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein By similarity.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.
Sequence caution	The sequence AAG43167.1 differs from that shown. Reason: Frameshift at positions 300 and 307.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW dentate gyrus development Inferred from electronic annotation. Source: Compara 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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 337	337	Neurogenic differentiation factor 6		PRO_0000127393
Regions
	Domain	94 – 146	53	bHLH
	Motif	80 – 86	7	Nuclear localization signal Potential
	Compositional bias	54 – 63	10	Poly-Glu

Sequences

	Sequence		Length	Mass (Da)
	Q96NK8 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 6B0F4127AC0F809E	FASTA	337	38,705
	10 20 30 40 50 60 MLTLPFDESV VMPESQMCRK FSRECEDQKQ IKKPESFSKQ IVLRGKSIKR APGEETEKEE 70 80 90 100 110 120 EEEDREEEDE NGLPRRRGLR KKKTTKLRLE RVKFRRQEAN ARERNRMHGL NDALDNLRKV 130 140 150 160 170 180 VPCYSKTQKL SKIETLRLAK NYIWALSEIL RIGKRPDLLT FVQNLCKGLS QPTTNLVAGC 190 200 210 220 230 240 LQLNARSFLM GQGGEAAHHT RSPYSTFYPP YHSPELTTPP GHGTLDNSKS MKPYNYCSAY 250 260 270 280 290 300 ESFYESTSPE CASPQFEGPL SPPPINYNGI FSLKQEETLD YGKNYNYGMH YCAVPPRGPL 310 320 330 GQGAMFRLPT DSHFPYDLHL RSQSLTMQDE LNAVFHN

References

[1]	"Cloning, chromosome localization and features of a novel human gene, MATH2." Guo L., Jiang M., Ma Y., Cheng H., Ni X., Jin Y., Xie Y., Mao Y.-M. J. Genet. 81:13-17(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Fetal brain.
[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]. Tissue: Amygdala and Brain.
[3]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF063609 mRNA. Translation: AAG43167.1. Frameshift. AF248954 mRNA. Translation: AAO12759.1. AK055238 mRNA. Translation: BAB70885.1. AK289619 mRNA. Translation: BAF82308.1. CH471073 Genomic DNA. Translation: EAW93979.1.
IPI	IPI00102358.
RefSeq	NP_073565.2. NM_022728.3.
UniGene	Hs.45152.
3D structure databases
ProteinModelPortal	Q96NK8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000297142.
PTM databases
PhosphoSite	Q96NK8.
Polymorphism databases
DMDM	20139067.
Proteomic databases
PaxDb	Q96NK8.
PRIDE	Q96NK8.
Protocols and materials databases
DNASU	63974.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297142; ENSP00000297142; ENSG00000164600.
GeneID	63974.
KEGG	hsa:63974.
UCSC	uc003tch.3. human.
Organism-specific databases
CTD	63974.
GeneCards	GC07M031343.
HGNC	HGNC:13804. NEUROD6.
MIM	611513. gene.
neXtProt	NX_Q96NK8.
PharmGKB	PA31568.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG242996.
HOVERGEN	HBG000250.
InParanoid	Q96NK8.
KO	K09080.
OMA	LPTESHF.
OrthoDB	EOG408N8N.
PhylomeDB	Q96NK8.
Gene expression databases
ArrayExpress	Q96NK8.
Bgee	Q96NK8.
CleanEx	HS_NEUROD6.
Genevestigator	Q96NK8.
GermOnline	ENSG00000164600. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR022575. Neurogenic_DUF. IPR016637. TF_bHLH_NeuroD. [Graphical view]
Pfam	PF00010. HLH. 1 hit. PF12533. Neuro_bHLH. 1 hit. [Graphical view]
PIRSF	PIRSF015618. bHLH_NeuroD. 1 hit.
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	NEUROD6. human.
GenomeRNAi	63974.
NextBio	65770.
SOURCE	Search...

Entry information

Entry name

NDF6_HUMAN

Accession

Primary (citable) accession number: Q96NK8
Secondary accession number(s): Q548T9, Q9H3H6

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 104 of the entry and version 1 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.