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Q9Y4Z2 (NGN3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NEUROG3
Synonyms:ATOH5, BHLHA7, NGN3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length214 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Nucleus Potential.

Involvement in disease

Diarrhea 4, malabsorptive, congenital (DIAR4) [MIM:610370]: A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   DiseaseDisease mutation
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcentral nervous system development

Traceable author statement PubMed 9000438. Source: ProtInc

endocrine pancreas development

Traceable author statement. Source: Reactome

epithelial cell differentiation

Inferred from electronic annotation. Source: Ensembl

forebrain development

Inferred from electronic annotation. Source: Ensembl

hindbrain development

Inferred from electronic annotation. Source: Ensembl

nervous system development

Traceable author statement PubMed 9000438. Source: ProtInc

peripheral nervous system development

Traceable author statement PubMed 9000438. Source: ProtInc

positive regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 16511571. Source: UniProtKB

spinal cord development

Inferred from electronic annotation. Source: Ensembl

transdifferentiation

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay PubMed 20807725. Source: UniProt

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

chromatin DNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

core promoter binding

Inferred from sequence or structural similarity. Source: UniProtKB

double-stranded DNA binding

Inferred from electronic annotation. Source: Ensembl

transcription coactivator activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 214214Neurogenin-3
PRO_0000127402

Regions

Domain83 – 13553bHLH

Natural variations

Natural variant931R → L in DIAR4; attenuated NEUROG3 function in vivo. Ref.7
VAR_029003
Natural variant1071R → S in DIAR4; attenuated NEUROG3 function in vivo. Ref.7
VAR_029004
Natural variant1991F → S. Ref.1 Ref.2 Ref.6
Corresponds to variant rs4536103 [ dbSNP | Ensembl ].
VAR_055316

Experimental info

Sequence conflict431R → P in CAB45384. Ref.1
Sequence conflict981N → D in CAB45384. Ref.1
Sequence conflict1651S → P in CAB45384. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9Y4Z2 [UniParc].

Last modified May 5, 2009. Version 2.
Checksum: 2E80623E46F88B83

FASTA21423,077
        10         20         30         40         50         60 
MTPQPSGAPT VQVTRETERS FPRASEDEVT CPTSAPPSPT RTRGNCAEAE EGGCRGAPRK 

        70         80         90        100        110        120 
LRARRGGRSR PKSELALSKQ RRSRRKKAND RERNRMHNLN SALDALRGVL PTFPDDAKLT 

       130        140        150        160        170        180 
KIETLRFAHN YIWALTQTLR IADHSLYALE PPAPHCGELG SPGGSPGDWG SLYSPVSQAG 

       190        200        210 
SLSPAASLEE RPGLLGATFS ACLSPGSLAF SDFL 

« Hide

References

« Hide 'large scale' references
[1]"The human neurogenin 3 homolog maps to chromosome 10q21.3 and its expression pattern is identical to that of its murine counterparts."
Ravassard P., Icard-Liepkalns C., Wiard L., Julien J.P., Mallet J.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-199.
[2]"Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the coding region of the proendocrine neurogenin 3 gene (NEUROG3) in Japanese patients with MODY."
del Bosque-Plata L., Lin J., Horikawa Y., Schwarz P.E.H., Cox N.J., Iwasaki N., Iwamoto Y., German M., Bell G.
Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-199.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Rectum.
[4]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-199.
[7]"Mutant neurogenin-3 in congenital malabsorptive diarrhea."
Wang J., Cortina G., Wu S.V., Tran R., Cho J.-H., Tsai M.-J., Bailey T.J., Jamrich M., Ament M.E., Treem W.R., Hill I.D., Vargas J.H., Gershman G., Farmer D.G., Reyen L., Martin M.G.
N. Engl. J. Med. 355:270-280(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DIAR4 LEU-93 AND SER-107, CHARACTERIZATION OF VARIANTS DIAR4 LEU-93 AND SER-107.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ133776 Genomic DNA. Translation: CAB45384.1.
AF234829 Genomic DNA. Translation: AAK15022.1.
AK313952 mRNA. Translation: BAG36669.1.
AL450311 Genomic DNA. Translation: CAH72729.1.
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.
RefSeqNP_066279.2. NM_020999.3.
UniGeneHs.532682.

3D structure databases

ProteinModelPortalQ9Y4Z2.
SMRQ9Y4Z2. Positions 83-140.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000242462.

PTM databases

PhosphoSiteQ9Y4Z2.

Polymorphism databases

DMDM229462908.

Proteomic databases

PaxDbQ9Y4Z2.
PRIDEQ9Y4Z2.

Protocols and materials databases

DNASU50674.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000242462; ENSP00000242462; ENSG00000122859.
GeneID50674.
KEGGhsa:50674.
UCSCuc001jpp.3. human.

Organism-specific databases

CTD50674.
GeneCardsGC10M071331.
H-InvDBHIX0035408.
HGNCHGNC:13806. NEUROG3.
HPAHPA039785.
MIM604882. gene.
610370. phenotype.
neXtProtNX_Q9Y4Z2.
Orphanet83620. Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells.
PharmGKBPA31571.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG327835.
HOGENOMHOG000063655.
HOVERGENHBG031743.
InParanoidQ9Y4Z2.
KOK08028.
OMARKKANDR.
OrthoDBEOG7TTQB1.
PhylomeDBQ9Y4Z2.
TreeFamTF315153.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ9Y4Z2.
BgeeQ9Y4Z2.
CleanExHS_NEUROG3.
GenevestigatorQ9Y4Z2.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNEUROG3.
GenomeRNAi50674.
NextBio53214.
PROQ9Y4Z2.
SOURCESearch...

Entry information

Entry nameNGN3_HUMAN
AccessionPrimary (citable) accession number: Q9Y4Z2
Secondary accession number(s): Q5VVI0, Q6DJX6, Q9BY24
Entry history
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: May 5, 2009
Last modified: April 16, 2014
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM