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Q9Y4Z2

- NGN3_HUMAN

UniProt

Q9Y4Z2 - NGN3_HUMAN

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Protein

Neurogenin-3

Gene

NEUROG3

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

  1. chromatin DNA binding Source: UniProtKB
  2. core promoter binding Source: UniProtKB
  3. double-stranded DNA binding Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: NTNU_SB
  6. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  7. transcription coactivator activity Source: UniProtKB

GO - Biological processi

  1. central nervous system development Source: ProtInc
  2. endocrine pancreas development Source: Reactome
  3. epithelial cell differentiation Source: Ensembl
  4. forebrain development Source: Ensembl
  5. hindbrain development Source: Ensembl
  6. negative regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  7. nervous system development Source: ProtInc
  8. peripheral nervous system development Source: ProtInc
  9. positive regulation of neuron differentiation Source: Ensembl
  10. positive regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
  11. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  12. regulation of dendrite morphogenesis Source: Ensembl
  13. spinal cord development Source: Ensembl
  14. transdifferentiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13650. Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells.
REACT_13673. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:13806. NEUROG3.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931R → L in DIAR4; attenuated NEUROG3 function in vivo. 1 Publication
VAR_029003
Natural varianti107 – 1071R → S in DIAR4; attenuated NEUROG3 function in vivo. 1 Publication
VAR_029004

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi610370. phenotype.
Orphaneti83620. Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells.
PharmGKBiPA31571.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 214214Neurogenin-3PRO_0000127402Add
BLAST

Proteomic databases

PaxDbiQ9Y4Z2.
PRIDEiQ9Y4Z2.

PTM databases

PhosphoSiteiQ9Y4Z2.

Expressioni

Gene expression databases

BgeeiQ9Y4Z2.
CleanExiHS_NEUROG3.
ExpressionAtlasiQ9Y4Z2. baseline and differential.
GenevestigatoriQ9Y4Z2.

Organism-specific databases

HPAiHPA039785.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000242462.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4Z2.
SMRiQ9Y4Z2. Positions 83-140.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini83 – 13553bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG327835.
GeneTreeiENSGT00680000099860.
HOGENOMiHOG000063655.
HOVERGENiHBG031743.
InParanoidiQ9Y4Z2.
KOiK08028.
OMAiRKKANDR.
OrthoDBiEOG7TTQB1.
PhylomeDBiQ9Y4Z2.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti43 – 431R → P in CAB45384. 1 PublicationCurated
Sequence conflicti98 – 981N → D in CAB45384. 1 PublicationCurated
Sequence conflicti165 – 1651S → P in CAB45384. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931R → L in DIAR4; attenuated NEUROG3 function in vivo. 1 Publication
VAR_029003
Natural varianti107 – 1071R → S in DIAR4; attenuated NEUROG3 function in vivo. 1 Publication
VAR_029004
Natural varianti199 – 1991F → S.3 Publications
Corresponds to variant rs4536103 [ dbSNP | Ensembl ].
VAR_055316

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS31212.1.
RefSeqiNP_066279.2. NM_020999.3.
UniGeneiHs.532682.

Genome annotation databases

EnsembliENST00000242462; ENSP00000242462; ENSG00000122859.
GeneIDi50674.
KEGGihsa:50674.
UCSCiuc001jpp.3. human.

Polymorphism databases

DMDMi229462908.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS31212.1.
RefSeqi NP_066279.2. NM_020999.3.
UniGenei Hs.532682.

3D structure databases

ProteinModelPortali Q9Y4Z2.
SMRi Q9Y4Z2. Positions 83-140.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000242462.

PTM databases

PhosphoSitei Q9Y4Z2.

Polymorphism databases

DMDMi 229462908.

Proteomic databases

PaxDbi Q9Y4Z2.
PRIDEi Q9Y4Z2.

Protocols and materials databases

DNASUi 50674.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000242462 ; ENSP00000242462 ; ENSG00000122859 .
GeneIDi 50674.
KEGGi hsa:50674.
UCSCi uc001jpp.3. human.

Organism-specific databases

CTDi 50674.
GeneCardsi GC10M071331.
H-InvDB HIX0035408.
HGNCi HGNC:13806. NEUROG3.
HPAi HPA039785.
MIMi 604882. gene.
610370. phenotype.
neXtProti NX_Q9Y4Z2.
Orphaneti 83620. Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells.
PharmGKBi PA31571.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG327835.
GeneTreei ENSGT00680000099860.
HOGENOMi HOG000063655.
HOVERGENi HBG031743.
InParanoidi Q9Y4Z2.
KOi K08028.
OMAi RKKANDR.
OrthoDBi EOG7TTQB1.
PhylomeDBi Q9Y4Z2.
TreeFami TF315153.

Enzyme and pathway databases

Reactomei REACT_13650. Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells.
REACT_13673. Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells.

Miscellaneous databases

GeneWikii NEUROG3.
GenomeRNAii 50674.
NextBioi 53214.
PROi Q9Y4Z2.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y4Z2.
CleanExi HS_NEUROG3.
ExpressionAtlasi Q9Y4Z2. baseline and differential.
Genevestigatori Q9Y4Z2.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: VARIANTS DIAR4 LEU-93 AND SER-107, CHARACTERIZATION OF VARIANTS DIAR4 LEU-93 AND SER-107.

Entry informationi

Entry nameiNGN3_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 112 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3