NDF6_HUMAN
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 03-AUG-2022, entry version 158.
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};
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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; 4.
DR STRING; 9606.ENSP00000297142; -.
DR iPTMnet; Q96NK8; -.
DR PhosphoSitePlus; Q96NK8; -.
DR BioMuta; NEUROD6; -.
DR DMDM; 20139067; -.
DR MassIVE; Q96NK8; -.
DR PaxDb; Q96NK8; -.
DR PeptideAtlas; Q96NK8; -.
DR PRIDE; Q96NK8; -.
DR Antibodypedia; 12707; 193 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 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; ANYPRES; -.
DR OrthoDB; 1096531at2759; -.
DR PhylomeDB; Q96NK8; -.
DR TreeFam; TF315153; -.
DR PathwayCommons; Q96NK8; -.
DR SignaLink; Q96NK8; -.
DR BioGRID-ORCS; 63974; 8 hits in 1087 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 tissues.
DR ExpressionAtlas; Q96NK8; baseline and differential.
DR Genevisible; Q96NK8; HS.
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:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0021542; P:dentate gyrus development; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR032650; Neurod6.
DR InterPro; IPR022575; Neurogenic_DUF.
DR InterPro; IPR016637; TF_bHLH_NeuroD.
DR PANTHER; PTHR19290:SF9; PTHR19290:SF9; 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; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
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
