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Protein

Neurogenic differentiation factor 1

Gene

NEUROD1

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

Functioni

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).By similarity

GO - Molecular functioni

  • chromatin binding Source: UniProtKB
  • DNA binding transcription factor activity Source: BHF-UCL
  • E-box binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
  • transcription coactivator activity Source: UniProtKB
  • transcription factor binding Source: BHF-UCL

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-210745 Regulation of gene expression in beta cells
R-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
SIGNORiQ13562

Names & Taxonomyi

Protein namesi
Recommended name:
Neurogenic differentiation factor 1
Short name:
NeuroD
Short name:
NeuroD1
Alternative name(s):
Class A basic helix-loop-helix protein 3
Short name:
bHLHa3
Gene namesi
Name:NEUROD1
Synonyms:BHLHA3, NEUROD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000162992.3
HGNCiHGNC:7762 NEUROD1
MIMi601724 gene
neXtProtiNX_Q13562

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Maturity-onset diabetes of the young 6 (MODY6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
See also OMIM:606394
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076552103R → P in MODY6. 1 Publication1
Natural variantiVAR_076553110E → K in MODY6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763092306Ensembl.1
Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012487111R → L in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs104893649EnsemblClinVar.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi4760
MalaCardsiNEUROD1
MIMi125853 phenotype
606394 phenotype
OpenTargetsiENSG00000162992
Orphaneti552 MODY
PharmGKBiPA31564

Polymorphism and mutation databases

BioMutaiNEUROD1
DMDMi311033428

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001273811 – 356Neurogenic differentiation factor 1Add BLAST356

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162PhosphoserineBy similarity1
Modified residuei259PhosphoserineBy similarity1
Modified residuei266PhosphoserineBy similarity1
Modified residuei274PhosphoserineBy similarity1
Modified residuei335Phosphoserine; by CaMK2By similarity1

Post-translational modificationi

Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ13562
PeptideAtlasiQ13562
PRIDEiQ13562
ProteomicsDBi59561

PTM databases

CarbonylDBiQ13562
iPTMnetiQ13562
PhosphoSitePlusiQ13562

Expressioni

Gene expression databases

BgeeiENSG00000162992
CleanExiHS_NEUROD1
ExpressionAtlasiQ13562 baseline and differential
GenevisibleiQ13562 HS

Organism-specific databases

HPAiCAB022450
HPA003278

Interactioni

Subunit structurei

Interacts (via helix-loop-helix motif domain) with EP300 (via C-terminus) (By similarity). Heterodimer with TCF3/E47; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element. Efficient DNA-binding requires dimerization with another bHLH protein. Interacts with RREB1. Interacts with EP300; the interaction is inhibited by NR0B2. Interacts with TCF3; the interaction is inhibited by ID2. Interacts with ATOH8 (By similarity).By similarity2 Publications

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL
  • transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110833, 16 interactors
CORUMiQ13562
IntActiQ13562, 3 interactors
STRINGi9606.ENSP00000295108

Structurei

3D structure databases

ProteinModelPortaliQ13562
SMRiQ13562
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini101 – 153bHLHPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi87 – 93Nuclear localization signalSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi58 – 77Glu-rich (acidic)Add BLAST20
Compositional biasi67 – 75Poly-Glu9
Compositional biasi87 – 90Poly-Lys4

Phylogenomic databases

eggNOGiENOG410KD2S Eukaryota
ENOG410Z6FG LUCA
GeneTreeiENSGT00680000099860
HOVERGENiHBG000250
InParanoidiQ13562
KOiK08033
OMAiEEHETDK
OrthoDBiEOG091G15AI
PhylomeDBiQ13562
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
IPR032652 Neurod1
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD
PANTHERiPTHR19290:SF88 PTHR19290:SF88, 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.

Q13562-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTKSYSESGL MGEPQPQGPP SWTDECLSSQ DEEHEADKKE DDLETMNAEE
60 70 80 90 100
DSLRNGGEEE DEDEDLEEEE EEEEEDDDQK PKRRGPKKKK MTKARLERFK
110 120 130 140 150
LRRMKANARE RNRMHGLNAA LDNLRKVVPC YSKTQKLSKI ETLRLAKNYI
160 170 180 190 200
WALSEILRSG KSPDLVSFVQ TLCKGLSQPT TNLVAGCLQL NPRTFLPEQN
210 220 230 240 250
QDMPPHLPTA SASFPVHPYS YQSPGLPSPP YGTMDSSHVF HVKPPPHAYS
260 270 280 290 300
AALEPFFESP LTDCTSPSFD GPLSPPLSIN GNFSFKHEPS AEFEKNYAFT
310 320 330 340 350
MHYPAATLAG AQSHGSIFSG TAAPRCEIPI DNIMSFDSHS HHERVMSAQL

NAIFHD
Length:356
Mass (Da):39,920
Last modified:November 2, 2010 - v3
Checksum:iB78075D1CF66E943
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti157L → S in AAA93480 (PubMed:8786144).Curated1
Sequence conflicti185A → G in BAA11558 (PubMed:8915591).Curated1
Sequence conflicti185A → G in BAA87605 (Ref. 5) Curated1
Sequence conflicti232G → D in BAA36519 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01482045T → A10 PublicationsCorresponds to variant dbSNP:rs1801262Ensembl.1
Natural variantiVAR_076552103R → P in MODY6. 1 Publication1
Natural variantiVAR_076553110E → K in MODY6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763092306Ensembl.1
Natural variantiVAR_012487111R → L in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs104893649EnsemblClinVar.1
Natural variantiVAR_031260197P → H. Corresponds to variant dbSNP:rs8192556EnsemblClinVar.1
Natural variantiVAR_076554242V → I Found in one consanguineous family with non-syndromic autosomal recessive retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs786205158EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U50822 Genomic DNA Translation: AAA93480.1
D82347 mRNA Translation: BAA11558.1
AF045152 Genomic DNA Translation: AAC83145.1
AB018693 Genomic DNA Translation: BAA76603.1
AB009997 Genomic DNA Translation: BAA87605.1
AB016079 Genomic DNA Translation: BAA36519.1
BT019731 mRNA Translation: AAV38536.1
AK313799 mRNA Translation: BAG36535.1
AB593068 mRNA Translation: BAJ84015.1
AB593069 mRNA Translation: BAJ84016.1
AB593070 mRNA Translation: BAJ84017.1
AB593071 mRNA Translation: BAJ84018.1
AC013733 Genomic DNA Translation: AAY24267.1
CH471058 Genomic DNA Translation: EAX10983.1
BC009046 mRNA Translation: AAH09046.1
U80578 mRNA Translation: AAC51318.1
U36472 mRNA Translation: AAA79702.1
CCDSiCCDS2283.1
RefSeqiNP_002491.2, NM_002500.4
UniGeneiHs.574626
Hs.709709

Genome annotation databases

EnsembliENST00000295108; ENSP00000295108; ENSG00000162992
GeneIDi4760
KEGGihsa:4760
UCSCiuc002uof.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNDF1_HUMAN
AccessioniPrimary (citable) accession number: Q13562
Secondary accession number(s): B2R9I8
, F1T0E1, O00343, Q13340, Q5U095, Q96TH0, Q99455, Q9UEC8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: July 18, 2018
This is version 179 of the entry and version 3 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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