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Protein

Neurogenic differentiation factor 6

Gene

NEUROD6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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.

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.

PTM databases

iPTMnetiQ96NK8.
PhosphoSitePlusiQ96NK8.

Expressioni

Gene expression databases

BgeeiENSG00000164600.
CleanExiHS_NEUROD6.
ExpressionAtlasiQ96NK8. baseline and differential.
GenevisibleiQ96NK8. HS.

Organism-specific databases

HPAiHPA027046.

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.
OMAiVERVKFR.
OrthoDBiEOG091G15AI.
PhylomeDBiQ96NK8.
TreeFamiTF315153.

Family and domain databases

CDDicd00083. HLH. 1 hit.
Gene3Di4.10.280.10. 1 hit.
InterProiView protein in InterPro
IPR011598. bHLH_dom.
IPR032650. Neurod6.
IPR022575. Neurogenic_DUF.
IPR016637. TF_bHLH_NeuroD.
PANTHERiPTHR19290:SF125. PTHR19290:SF125. 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

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: September 27, 2017
This is version 130 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot