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Protein

Neurogenin-3

Gene

NEUROG3

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

Functioni

Acts as a transcriptional regulator. Together with NKX2-2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
SIGNORiQ9Y4Z2

Names & Taxonomyi

Protein namesi
Recommended name:
Neurogenin-3
Short name:
NGN-3
Alternative name(s):
Class A basic helix-loop-helix protein 7
Short name:
bHLHa7
Protein atonal homolog 5
Gene namesi
Name:NEUROG3
Synonyms:ATOH5, BHLHA7, NGN3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000122859.4
HGNCiHGNC:13806 NEUROG3
MIMi604882 gene
neXtProtiNX_Q9Y4Z2

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

Involvement in diseasei

Diarrhea 4, malabsorptive, congenital (DIAR4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells.
See also OMIM:610370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02900393R → L in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917838EnsemblClinVar.1
Natural variantiVAR_029004107R → S in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917837EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi50674
MalaCardsiNEUROG3
MIMi610370 phenotype
OpenTargetsiENSG00000122859
Orphaneti83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
PharmGKBiPA31571

Polymorphism and mutation databases

BioMutaiNEUROG3
DMDMi229462908

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274021 – 214Neurogenin-3Add BLAST214

Proteomic databases

PaxDbiQ9Y4Z2
PRIDEiQ9Y4Z2

PTM databases

iPTMnetiQ9Y4Z2
PhosphoSitePlusiQ9Y4Z2

Expressioni

Gene expression databases

BgeeiENSG00000122859
CleanExiHS_NEUROG3
GenevisibleiQ9Y4Z2 HS

Organism-specific databases

HPAiHPA039785

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ATOH8.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119118, 48 interactors
IntActiQ9Y4Z2, 4 interactors
STRINGi9606.ENSP00000242462

Structurei

3D structure databases

ProteinModelPortaliQ9Y4Z2
SMRiQ9Y4Z2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini83 – 135bHLHPROSITE-ProRule annotationAdd BLAST53

Phylogenomic databases

eggNOGiKOG3898 Eukaryota
ENOG4111U26 LUCA
GeneTreeiENSGT00680000099860
HOGENOMiHOG000063655
HOVERGENiHBG031743
InParanoidiQ9Y4Z2
KOiK08028
OMAiRKKANDR
OrthoDBiEOG091G0PNH
PhylomeDBiQ9Y4Z2
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
IPR032656 Ngn3
PANTHERiPTHR19290:SF94 PTHR19290:SF94, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 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.

Q9Y4Z2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTPQPSGAPT VQVTRETERS FPRASEDEVT CPTSAPPSPT RTRGNCAEAE
60 70 80 90 100
EGGCRGAPRK LRARRGGRSR PKSELALSKQ RRSRRKKAND RERNRMHNLN
110 120 130 140 150
SALDALRGVL PTFPDDAKLT KIETLRFAHN YIWALTQTLR IADHSLYALE
160 170 180 190 200
PPAPHCGELG SPGGSPGDWG SLYSPVSQAG SLSPAASLEE RPGLLGATFS
210
ACLSPGSLAF SDFL
Length:214
Mass (Da):23,077
Last modified:May 5, 2009 - v2
Checksum:i2E80623E46F88B83
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti43R → P in CAB45384 (Ref. 1) Curated1
Sequence conflicti98N → D in CAB45384 (Ref. 1) Curated1
Sequence conflicti165S → P in CAB45384 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02900393R → L in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917838EnsemblClinVar.1
Natural variantiVAR_029004107R → S in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917837EnsemblClinVar.1
Natural variantiVAR_055316199F → S3 PublicationsCorresponds to variant dbSNP:rs4536103EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ133776 Genomic DNA Translation: CAB45384.1
AF234829 Genomic DNA Translation: AAK15022.1
AK313952 mRNA Translation: BAG36669.1
AL450311 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54328.1
BC074938 mRNA Translation: AAH74938.1
BC074939 mRNA Translation: AAH74939.1
BC117488 mRNA Translation: AAI17489.1
BC126468 mRNA Translation: AAI26469.1
CCDSiCCDS31212.1
RefSeqiNP_066279.2, NM_020999.3
XP_016871769.1, XM_017016280.1
UniGeneiHs.532682

Genome annotation databases

EnsembliENST00000242462; ENSP00000242462; ENSG00000122859
GeneIDi50674
KEGGihsa:50674
UCSCiuc001jpp.4 human

Similar proteinsi

Entry informationi

Entry nameiNGN3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4Z2
Secondary accession number(s): Q5VVI0, Q6DJX6, Q9BY24
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: May 5, 2009
Last modified: May 23, 2018
This is version 139 of the entry and version 2 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 10
    Human chromosome 10: 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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