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Q9Y4Z2

- NGN3_HUMAN

UniProt

Q9Y4Z2 - NGN3_HUMAN

Protein

Neurogenin-3

Gene

NEUROG3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 2 (05 May 2009)
      Previous versions | rss
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    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. spinal cord development Source: Ensembl
    13. transdifferentiation Source: UniProtKB

    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

    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

    ArrayExpressiQ9Y4Z2.
    BgeeiQ9Y4Z2.
    CleanExiHS_NEUROG3.
    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.
    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

    MTPQPSGAPT VQVTRETERS FPRASEDEVT CPTSAPPSPT RTRGNCAEAE    50
    EGGCRGAPRK LRARRGGRSR PKSELALSKQ RRSRRKKAND RERNRMHNLN 100
    SALDALRGVL PTFPDDAKLT KIETLRFAHN YIWALTQTLR IADHSLYALE 150
    PPAPHCGELG SPGGSPGDWG SLYSPVSQAG SLSPAASLEE RPGLLGATFS 200
    ACLSPGSLAF SDFL 214
    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.
    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

    ArrayExpressi Q9Y4Z2.
    Bgeei Q9Y4Z2.
    CleanExi HS_NEUROG3.
    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

    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 1, 2014
    This is version 111 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