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UniProtKB - Q9Y4Z2 (NGN3_HUMAN)
Protein
Neurogenin-3
Gene
NEUROG3
Organism
Homo sapiens (Human)
Status
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 similarityGO - Molecular functioni
- chromatin DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
GO - Biological processi
- central nervous system development Source: ProtInc
- endocrine pancreas development Source: InterPro
- epithelial cell differentiation Source: Ensembl
- forebrain development Source: Ensembl
- hindbrain development Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- nervous system development Source: ProtInc
- neuron differentiation Source: GO_Central
- peripheral nervous system development Source: ProtInc
- positive regulation of neuron differentiation Source: Ensembl
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of dendrite morphogenesis Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- spinal cord development Source: Ensembl
- transdifferentiation Source: UniProtKB
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9Y4Z2 |
Reactomei | R-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 |
SignaLinki | Q9Y4Z2 |
SIGNORi | Q9Y4Z2 |
Names & Taxonomyi
Protein namesi | Recommended name: Neurogenin-3Short 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13806, NEUROG3 |
MIMi | 604882, gene |
neXtProti | NX_Q9Y4Z2 |
VEuPathDBi | HostDB:ENSG00000122859 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Diarrhea 4, malabsorptive, congenital (DIAR4)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029003 | 93 | R → L in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917838EnsemblClinVar. | 1 | |
Natural variantiVAR_029004 | 107 | R → S in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917837EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 50674 |
MalaCardsi | NEUROG3 |
MIMi | 610370, phenotype |
OpenTargetsi | ENSG00000122859 |
Orphaneti | 83620, Enteric anendocrinosis |
PharmGKBi | PA31571 |
Miscellaneous databases
Pharosi | Q9Y4Z2, Tbio |
Genetic variation databases
BioMutai | NEUROG3 |
DMDMi | 229462908 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127402 | 1 – 214 | Neurogenin-3Add BLAST | 214 |
Proteomic databases
PaxDbi | Q9Y4Z2 |
PeptideAtlasi | Q9Y4Z2 |
PRIDEi | Q9Y4Z2 |
PTM databases
iPTMneti | Q9Y4Z2 |
PhosphoSitePlusi | Q9Y4Z2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000122859, Expressed in duodenum and 29 other tissues |
Genevisiblei | Q9Y4Z2, HS |
Organism-specific databases
HPAi | ENSG00000122859, Group enriched (brain, intestine) |
Interactioni
Subunit structurei
Efficient DNA binding requires dimerization with another bHLH protein.
Interacts with ATOH8.
By similarityBinary interactionsi
Q9Y4Z2
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 119118, 113 interactors |
IntActi | Q9Y4Z2, 44 interactors |
STRINGi | 9606.ENSP00000242462 |
Miscellaneous databases
RNActi | Q9Y4Z2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 83 – 135 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 98 | DisorderedSequence analysisAdd BLAST | 98 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 18 | Polar residuesSequence analysisAdd BLAST | 18 |
Phylogenomic databases
eggNOGi | KOG3898, Eukaryota |
GeneTreei | ENSGT00940000163077 |
HOGENOMi | CLU_097959_1_0_1 |
InParanoidi | Q9Y4Z2 |
OMAi | ADHSFYG |
OrthoDBi | 1524429at2759 |
PhylomeDBi | Q9Y4Z2 |
TreeFami | TF315153 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR032656, Ngn3 |
PANTHERi | PTHR19290:SF94, PTHR19290:SF94, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9Y4Z2-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 43 | R → P in CAB45384 (Ref. 1) Curated | 1 | |
Sequence conflicti | 98 | N → D in CAB45384 (Ref. 1) Curated | 1 | |
Sequence conflicti | 165 | S → P in CAB45384 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029003 | 93 | R → L in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917838EnsemblClinVar. | 1 | |
Natural variantiVAR_029004 | 107 | R → S in DIAR4; attenuated NEUROG3 function in vivo. 1 PublicationCorresponds to variant dbSNP:rs121917837EnsemblClinVar. | 1 | |
Natural variantiVAR_055316 | 199 | F → 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 |
CCDSi | CCDS31212.1 |
RefSeqi | NP_066279.2, NM_020999.3 XP_016871769.1, XM_017016280.1 |
Genome annotation databases
Ensembli | ENST00000242462.5; ENSP00000242462.4; ENSG00000122859.5 |
GeneIDi | 50674 |
KEGGi | hsa:50674 |
MANE-Selecti | ENST00000242462.5; ENSP00000242462.4; NM_020999.4; NP_066279.2 |
UCSCi | uc001jpp.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS31212.1 |
RefSeqi | NP_066279.2, NM_020999.3 XP_016871769.1, XM_017016280.1 |
3D structure databases
AlphaFoldDBi | Q9Y4Z2 |
SMRi | Q9Y4Z2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119118, 113 interactors |
IntActi | Q9Y4Z2, 44 interactors |
STRINGi | 9606.ENSP00000242462 |
PTM databases
iPTMneti | Q9Y4Z2 |
PhosphoSitePlusi | Q9Y4Z2 |
Genetic variation databases
BioMutai | NEUROG3 |
DMDMi | 229462908 |
Proteomic databases
PaxDbi | Q9Y4Z2 |
PeptideAtlasi | Q9Y4Z2 |
PRIDEi | Q9Y4Z2 |
Protocols and materials databases
Antibodypediai | 28907, 551 antibodies from 32 providers |
DNASUi | 50674 |
Genome annotation databases
Ensembli | ENST00000242462.5; ENSP00000242462.4; ENSG00000122859.5 |
GeneIDi | 50674 |
KEGGi | hsa:50674 |
MANE-Selecti | ENST00000242462.5; ENSP00000242462.4; NM_020999.4; NP_066279.2 |
UCSCi | uc001jpp.4, human |
Organism-specific databases
CTDi | 50674 |
DisGeNETi | 50674 |
GeneCardsi | NEUROG3 |
HGNCi | HGNC:13806, NEUROG3 |
HPAi | ENSG00000122859, Group enriched (brain, intestine) |
MalaCardsi | NEUROG3 |
MIMi | 604882, gene 610370, phenotype |
neXtProti | NX_Q9Y4Z2 |
OpenTargetsi | ENSG00000122859 |
Orphaneti | 83620, Enteric anendocrinosis |
PharmGKBi | PA31571 |
VEuPathDBi | HostDB:ENSG00000122859 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3898, Eukaryota |
GeneTreei | ENSGT00940000163077 |
HOGENOMi | CLU_097959_1_0_1 |
InParanoidi | Q9Y4Z2 |
OMAi | ADHSFYG |
OrthoDBi | 1524429at2759 |
PhylomeDBi | Q9Y4Z2 |
TreeFami | TF315153 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y4Z2 |
Reactomei | R-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 |
SignaLinki | Q9Y4Z2 |
SIGNORi | Q9Y4Z2 |
Miscellaneous databases
BioGRID-ORCSi | 50674, 26 hits in 1087 CRISPR screens |
GeneWikii | NEUROG3 |
GenomeRNAii | 50674 |
Pharosi | Q9Y4Z2, Tbio |
PROi | PR:Q9Y4Z2 |
RNActi | Q9Y4Z2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122859, Expressed in duodenum and 29 other tissues |
Genevisiblei | Q9Y4Z2, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR032656, Ngn3 |
PANTHERi | PTHR19290:SF94, PTHR19290:SF94, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NGN3_HUMAN | |
Accessioni | Q9Y4Z2Primary (citable) accession number: Q9Y4Z2 Secondary accession number(s): Q5VVI0, Q6DJX6, Q9BY24 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 27, 2002 |
Last sequence update: | May 5, 2009 | |
Last modified: | May 25, 2022 | |
This is version 162 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot