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Protein

Neurogenic differentiation factor 6

Gene

NEUROD6

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

Functioni

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).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
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 namesi
Name:NEUROD6
Synonyms:ATOH2, BHLHA2
ORF Names:My051
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000164600.5
HGNCiHGNC:13804 NEUROD6
MIMi611513 gene
neXtProtiNX_Q96NK8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi63974
OpenTargetsiENSG00000164600
PharmGKBiPA31568

Polymorphism and mutation databases

DMDMi20139067

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001273931 – 337Neurogenic differentiation factor 6Add BLAST337

Proteomic databases

PaxDbiQ96NK8
PeptideAtlasiQ96NK8
PRIDEiQ96NK8
ProteomicsDBi77524

PTM databases

iPTMnetiQ96NK8
PhosphoSitePlusiQ96NK8

Expressioni

Gene expression databases

BgeeiENSG00000164600 Expressed in 47 organ(s), highest expression level in cerebral cortex
CleanExiHS_NEUROD6
ExpressionAtlasiQ96NK8 baseline and differential
GenevisibleiQ96NK8 HS

Organism-specific databases

HPAiHPA027046
HPA074530

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000297142

Structurei

3D structure databases

ProteinModelPortaliQ96NK8
SMRiQ96NK8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini94 – 146bHLHPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi80 – 86Nuclear localization signalSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi54 – 63Poly-Glu10

Phylogenomic databases

eggNOGiENOG410IQ4G Eukaryota
ENOG41118Y2 LUCA
GeneTreeiENSGT00680000099860
HOVERGENiHBG000250
InParanoidiQ96NK8
KOiK09080
OMAiGSPHFDG
OrthoDBiEOG091G15AI
PhylomeDBiQ96NK8
TreeFamiTF315153

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032650 Neurod6
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD
PANTHERiPTHR19290:SF9 PTHR19290:SF9, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF12533 Neuro_bHLH, 1 hit
PIRSFiPIRSF015618 bHLH_NeuroD, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

Q96NK8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLTLPFDESV VMPESQMCRK FSRECEDQKQ IKKPESFSKQ IVLRGKSIKR
60 70 80 90 100
APGEETEKEE EEEDREEEDE NGLPRRRGLR KKKTTKLRLE RVKFRRQEAN
110 120 130 140 150
ARERNRMHGL NDALDNLRKV VPCYSKTQKL SKIETLRLAK NYIWALSEIL
160 170 180 190 200
RIGKRPDLLT FVQNLCKGLS QPTTNLVAGC LQLNARSFLM GQGGEAAHHT
210 220 230 240 250
RSPYSTFYPP YHSPELTTPP GHGTLDNSKS MKPYNYCSAY ESFYESTSPE
260 270 280 290 300
CASPQFEGPL SPPPINYNGI FSLKQEETLD YGKNYNYGMH YCAVPPRGPL
310 320 330
GQGAMFRLPT DSHFPYDLHL RSQSLTMQDE LNAVFHN
Length:337
Mass (Da):38,705
Last modified:December 1, 2001 - v1
Checksum:i6B0F4127AC0F809E
GO

Sequence cautioni

The sequence AAG43167 differs from that shown. Reason: Frameshift at positions 300 and 307.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS5434.1
RefSeqiNP_073565.2, NM_022728.3
UniGeneiHs.45152

Genome annotation databases

EnsembliENST00000297142; ENSP00000297142; ENSG00000164600
GeneIDi63974
KEGGihsa:63974
UCSCiuc003tch.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS5434.1
RefSeqiNP_073565.2, NM_022728.3
UniGeneiHs.45152

3D structure databases

ProteinModelPortaliQ96NK8
SMRiQ96NK8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000297142

PTM databases

iPTMnetiQ96NK8
PhosphoSitePlusiQ96NK8

Polymorphism and mutation databases

DMDMi20139067

Proteomic databases

PaxDbiQ96NK8
PeptideAtlasiQ96NK8
PRIDEiQ96NK8
ProteomicsDBi77524

Protocols and materials databases

DNASUi63974
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297142; ENSP00000297142; ENSG00000164600
GeneIDi63974
KEGGihsa:63974
UCSCiuc003tch.5 human

Organism-specific databases

CTDi63974
DisGeNETi63974
EuPathDBiHostDB:ENSG00000164600.5
GeneCardsiNEUROD6
HGNCiHGNC:13804 NEUROD6
HPAiHPA027046
HPA074530
MIMi611513 gene
neXtProtiNX_Q96NK8
OpenTargetsiENSG00000164600
PharmGKBiPA31568
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ4G Eukaryota
ENOG41118Y2 LUCA
GeneTreeiENSGT00680000099860
HOVERGENiHBG000250
InParanoidiQ96NK8
KOiK09080
OMAiGSPHFDG
OrthoDBiEOG091G15AI
PhylomeDBiQ96NK8
TreeFamiTF315153

Miscellaneous databases

ChiTaRSiNEUROD6 human
GenomeRNAii63974
PROiPR:Q96NK8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164600 Expressed in 47 organ(s), highest expression level in cerebral cortex
CleanExiHS_NEUROD6
ExpressionAtlasiQ96NK8 baseline and differential
GenevisibleiQ96NK8 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032650 Neurod6
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD
PANTHERiPTHR19290:SF9 PTHR19290:SF9, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF12533 Neuro_bHLH, 1 hit
PIRSFiPIRSF015618 bHLH_NeuroD, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDF6_HUMAN
AccessioniPrimary (citable) accession number: Q96NK8
Secondary accession number(s): Q548T9, Q9H3H6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 137 of the entry and version 1 of the sequence. See 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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