ID NDF6_HUMAN Reviewed; 337 AA. AC Q96NK8; Q548T9; Q9H3H6; DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-2001, sequence version 1. DT 27-MAR-2024, entry version 167. DE RecName: Full=Neurogenic differentiation factor 6; DE Short=NeuroD6; DE AltName: Full=Class A basic helix-loop-helix protein 2; DE Short=bHLHa2; DE AltName: Full=Protein atonal homolog 2; GN Name=NEUROD6; Synonyms=ATOH2, BHLHA2; ORFNames=My051; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Fetal brain; RX PubMed=12357074; DOI=10.1007/bf02715865; RA Guo L., Jiang M., Ma Y., Cheng H., Ni X., Jin Y., Xie Y., Mao Y.-M.; RT "Cloning, chromosome localization and features of a novel human gene, RT MATH2."; RL J. Genet. 81:13-17(2002). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Amygdala, and Brain; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. CC -!- FUNCTION: Activates E box-dependent transcription in collaboration with CC TCF3/E47. May be a trans-acting factor involved in the development and CC maintenance of the mammalian nervous system. Transactivates the CC promoter of its own gene (By similarity). {ECO:0000250}. CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH CC protein. {ECO:0000250}. CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAG43167.1; Type=Frameshift; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF063609; AAG43167.1; ALT_FRAME; mRNA. DR EMBL; AF248954; AAO12759.1; -; mRNA. DR EMBL; AK055238; BAB70885.1; -; mRNA. DR EMBL; AK289619; BAF82308.1; -; mRNA. DR EMBL; CH471073; EAW93979.1; -; Genomic_DNA. DR CCDS; CCDS5434.1; -. DR RefSeq; NP_073565.2; NM_022728.3. DR AlphaFoldDB; Q96NK8; -. DR SMR; Q96NK8; -. DR BioGRID; 122021; 4. DR IntAct; Q96NK8; 5. DR STRING; 9606.ENSP00000297142; -. DR iPTMnet; Q96NK8; -. DR PhosphoSitePlus; Q96NK8; -. DR BioMuta; NEUROD6; -. DR DMDM; 20139067; -. DR MassIVE; Q96NK8; -. DR PaxDb; 9606-ENSP00000297142; -. DR PeptideAtlas; Q96NK8; -. DR ProteomicsDB; 77524; -. DR Antibodypedia; 12707; 202 antibodies from 30 providers. DR DNASU; 63974; -. DR Ensembl; ENST00000297142.4; ENSP00000297142.3; ENSG00000164600.7. DR GeneID; 63974; -. DR KEGG; hsa:63974; -. DR MANE-Select; ENST00000297142.4; ENSP00000297142.3; NM_022728.4; NP_073565.2. DR UCSC; uc003tch.5; human. DR AGR; HGNC:13804; -. DR CTD; 63974; -. DR DisGeNET; 63974; -. DR GeneCards; NEUROD6; -. DR HGNC; HGNC:13804; NEUROD6. DR HPA; ENSG00000164600; Tissue enriched (brain). DR MIM; 611513; gene. DR neXtProt; NX_Q96NK8; -. DR OpenTargets; ENSG00000164600; -. DR PharmGKB; PA31568; -. DR VEuPathDB; HostDB:ENSG00000164600; -. DR eggNOG; KOG3898; Eukaryota. DR GeneTree; ENSGT00940000159827; -. DR HOGENOM; CLU_055134_1_0_1; -. DR InParanoid; Q96NK8; -. DR OMA; NYPRESL; -. DR OrthoDB; 2915590at2759; -. DR PhylomeDB; Q96NK8; -. DR TreeFam; TF315153; -. DR PathwayCommons; Q96NK8; -. DR SignaLink; Q96NK8; -. DR BioGRID-ORCS; 63974; 8 hits in 1167 CRISPR screens. DR ChiTaRS; NEUROD6; human. DR GenomeRNAi; 63974; -. DR Pharos; Q96NK8; Tbio. DR PRO; PR:Q96NK8; -. DR Proteomes; UP000005640; Chromosome 7. DR RNAct; Q96NK8; Protein. DR Bgee; ENSG00000164600; Expressed in cortical plate and 37 other cell types or tissues. DR ExpressionAtlas; Q96NK8; baseline and differential. DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB. DR GO; GO:0005634; C:nucleus; IBA:GO_Central. DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB. DR GO; GO:0070888; F:E-box binding; IBA:GO_Central. DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro. DR GO; GO:0061564; P:axon development; IBA:GO_Central. DR GO; GO:0021542; P:dentate gyrus development; IEA:Ensembl. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central. DR GO; GO:0007423; P:sensory organ development; IBA:GO_Central. DR CDD; cd19722; bHLH_TS_NeuroD6_ATOH2; 1. DR Gene3D; 4.10.280.10; Helix-loop-helix DNA-binding domain; 1. DR InterPro; IPR011598; bHLH_dom. DR InterPro; IPR036638; HLH_DNA-bd_sf. DR InterPro; IPR022575; NeuroD_DUF. DR InterPro; IPR016637; TF_bHLH_NeuroD. DR PANTHER; PTHR19290; BASIC HELIX-LOOP-HELIX PROTEIN NEUROGENIN-RELATED; 1. DR PANTHER; PTHR19290:SF9; NEUROGENIC DIFFERENTIATION FACTOR 6; 1. DR Pfam; PF00010; HLH; 1. DR Pfam; PF12533; Neuro_bHLH; 1. DR PIRSF; PIRSF015618; bHLH_NeuroD; 1. DR SMART; SM00353; HLH; 1. DR SUPFAM; SSF47459; HLH, helix-loop-helix DNA-binding domain; 1. DR PROSITE; PS50888; BHLH; 1. DR Genevisible; Q96NK8; HS. PE 2: Evidence at transcript level; KW Activator; Developmental protein; Differentiation; DNA-binding; KW Neurogenesis; Nucleus; Reference proteome; Transcription; KW Transcription regulation. FT CHAIN 1..337 FT /note="Neurogenic differentiation factor 6" FT /id="PRO_0000127393" FT DOMAIN 94..146 FT /note="bHLH" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981" FT REGION 43..82 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOTIF 80..86 FT /note="Nuclear localization signal" FT /evidence="ECO:0000255" SQ SEQUENCE 337 AA; 38705 MW; 6B0F4127AC0F809E CRC64; MLTLPFDESV VMPESQMCRK FSRECEDQKQ IKKPESFSKQ IVLRGKSIKR APGEETEKEE EEEDREEEDE NGLPRRRGLR KKKTTKLRLE RVKFRRQEAN ARERNRMHGL NDALDNLRKV VPCYSKTQKL SKIETLRLAK NYIWALSEIL RIGKRPDLLT FVQNLCKGLS QPTTNLVAGC LQLNARSFLM GQGGEAAHHT RSPYSTFYPP YHSPELTTPP GHGTLDNSKS MKPYNYCSAY ESFYESTSPE CASPQFEGPL SPPPINYNGI FSLKQEETLD YGKNYNYGMH YCAVPPRGPL GQGAMFRLPT DSHFPYDLHL RSQSLTMQDE LNAVFHN //