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Q13562

- NDF1_HUMAN

UniProt

Q13562 - NDF1_HUMAN

Protein

Neurogenic differentiation factor 1

Gene

NEUROD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis By similarity.By similarity

    GO - Molecular functioni

    1. chromatin binding Source: UniProtKB
    2. double-stranded DNA binding Source: Ensembl
    3. E-box binding Source: UniProtKB
    4. protein binding Source: UniProtKB
    5. protein heterodimerization activity Source: UniProtKB
    6. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    7. RNA polymerase II transcription coactivator activity Source: BHF-UCL
    8. sequence-specific DNA binding Source: Ensembl
    9. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    10. transcription coactivator activity Source: UniProtKB
    11. transcription factor binding Source: BHF-UCL

    GO - Biological processi

    1. amacrine cell differentiation Source: UniProtKB
    2. anterior/posterior pattern specification Source: Ensembl
    3. cellular response to glucose stimulus Source: Ensembl
    4. cerebellum development Source: UniProtKB
    5. dentate gyrus development Source: UniProtKB
    6. embryonic organ morphogenesis Source: BHF-UCL
    7. endocrine pancreas development Source: UniProtKB
    8. enteroendocrine cell differentiation Source: UniProtKB
    9. glucose homeostasis Source: BHF-UCL
    10. inner ear development Source: UniProtKB
    11. insulin secretion Source: BHF-UCL
    12. negative regulation of JAK-STAT cascade Source: Ensembl
    13. negative regulation of type B pancreatic cell apoptotic process Source: BHF-UCL
    14. neurogenesis Source: BHF-UCL
    15. nitric oxide mediated signal transduction Source: BHF-UCL
    16. nucleocytoplasmic transport Source: Ensembl
    17. pancreatic A cell fate commitment Source: Ensembl
    18. pancreatic PP cell fate commitment Source: Ensembl
    19. positive regulation of apoptotic process Source: UniProtKB
    20. positive regulation of cell differentiation Source: UniProtKB
    21. positive regulation of neuron differentiation Source: UniProtKB
    22. positive regulation of sequence-specific DNA binding transcription factor activity Source: UniProtKB
    23. positive regulation of transcription, DNA-templated Source: UniProtKB
    24. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    25. positive regulation of transcription regulatory region DNA binding Source: BHF-UCL
    26. regulation of cell cycle arrest Source: UniProtKB
    27. regulation of insulin secretion Source: BHF-UCL
    28. regulation of intestinal epithelial structure maintenance Source: UniProtKB
    29. response to drug Source: Ensembl
    30. response to glucose Source: BHF-UCL
    31. signal transduction involved in regulation of gene expression Source: Ensembl

    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_13819. Regulation of gene expression in beta cells.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neurogenic differentiation factor 1
    Short name:
    NeuroD
    Short name:
    NeuroD1
    Alternative name(s):
    Class A basic helix-loop-helix protein 3
    Short name:
    bHLHa3
    Gene namesi
    Name:NEUROD1
    Synonyms:BHLHA3, NEUROD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:7762. NEUROD1.

    Subcellular locationi

    Cytoplasm By similarity. Nucleus 1 PublicationPROSITE-ProRule annotation
    Note: In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation By similarity. Colocalizes with NR0B2 in the nucleus.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleoplasm Source: Reactome
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti111 – 1111R → L in MODY6. 1 Publication
    VAR_012487

    Keywords - Diseasei

    Diabetes mellitus, Disease mutation

    Organism-specific databases

    MIMi125853. phenotype.
    606391. phenotype.
    606394. phenotype.
    Orphaneti552. MODY syndrome.
    PharmGKBiPA31564.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 356356Neurogenic differentiation factor 1PRO_0000127381Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei162 – 1621PhosphoserineBy similarity
    Modified residuei259 – 2591PhosphoserineBy similarity
    Modified residuei266 – 2661PhosphoserineBy similarity
    Modified residuei274 – 2741PhosphoserineBy similarity
    Modified residuei335 – 3351Phosphoserine; by CaMK2By similarity

    Post-translational modificationi

    Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ13562.
    PRIDEiQ13562.

    PTM databases

    PhosphoSiteiQ13562.

    Expressioni

    Gene expression databases

    BgeeiQ13562.
    CleanExiHS_NEUROD1.
    GenevestigatoriQ13562.

    Organism-specific databases

    HPAiCAB022450.
    HPA003278.

    Interactioni

    Subunit structurei

    Interacts (via helix-loop-helix motif domain) with EP300 (via C-terminus) By similarity. Heterodimer with TCF3/E47; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element. Efficient DNA-binding requires dimerization with another bHLH protein. Interacts with RREB1. Interacts with EP300; the interaction is inhibited by NR0B2. Interacts with TCF3; the interaction is inhibited by ID2.By similarity2 Publications

    Protein-protein interaction databases

    BioGridi110833. 9 interactions.
    IntActiQ13562. 1 interaction.
    STRINGi9606.ENSP00000295108.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13562.
    SMRiQ13562. Positions 102-159.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini101 – 15353bHLHPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi87 – 937Nuclear localization signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi58 – 7720Glu-rich (acidic)Add
    BLAST
    Compositional biasi67 – 759Poly-Glu
    Compositional biasi87 – 904Poly-Lys

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG287211.
    HOVERGENiHBG000250.
    InParanoidiQ13562.
    KOiK08033.
    OMAiMNAQLNA.
    OrthoDBiEOG722J8S.
    PhylomeDBiQ13562.
    TreeFamiTF315153.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR022575. Neurogenic_DUF.
    IPR016637. TF_bHLH_NeuroD.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    PF12533. Neuro_bHLH. 1 hit.
    [Graphical view]
    PIRSFiPIRSF015618. bHLH_NeuroD. 1 hit.
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q13562-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTKSYSESGL MGEPQPQGPP SWTDECLSSQ DEEHEADKKE DDLETMNAEE    50
    DSLRNGGEEE DEDEDLEEEE EEEEEDDDQK PKRRGPKKKK MTKARLERFK 100
    LRRMKANARE RNRMHGLNAA LDNLRKVVPC YSKTQKLSKI ETLRLAKNYI 150
    WALSEILRSG KSPDLVSFVQ TLCKGLSQPT TNLVAGCLQL NPRTFLPEQN 200
    QDMPPHLPTA SASFPVHPYS YQSPGLPSPP YGTMDSSHVF HVKPPPHAYS 250
    AALEPFFESP LTDCTSPSFD GPLSPPLSIN GNFSFKHEPS AEFEKNYAFT 300
    MHYPAATLAG AQSHGSIFSG TAAPRCEIPI DNIMSFDSHS HHERVMSAQL 350
    NAIFHD 356
    Length:356
    Mass (Da):39,920
    Last modified:November 2, 2010 - v3
    Checksum:iB78075D1CF66E943
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti157 – 1571L → S in AAA93480. (PubMed:8786144)Curated
    Sequence conflicti185 – 1851A → G in BAA11558. (PubMed:8915591)Curated
    Sequence conflicti185 – 1851A → G in BAA87605. 1 PublicationCurated
    Sequence conflicti232 – 2321G → D in BAA36519. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451T → A.10 Publications
    Corresponds to variant rs1801262 [ dbSNP | Ensembl ].
    VAR_014820
    Natural varianti111 – 1111R → L in MODY6. 1 Publication
    VAR_012487
    Natural varianti197 – 1971P → H.
    Corresponds to variant rs8192556 [ dbSNP | Ensembl ].
    VAR_031260

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U50822 Genomic DNA. Translation: AAA93480.1.
    D82347 mRNA. Translation: BAA11558.1.
    AF045152 Genomic DNA. Translation: AAC83145.1.
    AB018693 Genomic DNA. Translation: BAA76603.1.
    AB009997 Genomic DNA. Translation: BAA87605.1.
    AB016079 Genomic DNA. Translation: BAA36519.1.
    BT019731 mRNA. Translation: AAV38536.1.
    AK313799 mRNA. Translation: BAG36535.1.
    AB593068 mRNA. Translation: BAJ84015.1.
    AB593069 mRNA. Translation: BAJ84016.1.
    AB593070 mRNA. Translation: BAJ84017.1.
    AB593071 mRNA. Translation: BAJ84018.1.
    AC013733 Genomic DNA. Translation: AAY24267.1.
    CH471058 Genomic DNA. Translation: EAX10983.1.
    BC009046 mRNA. Translation: AAH09046.1.
    U80578 mRNA. Translation: AAC51318.1.
    U36472 mRNA. Translation: AAA79702.1.
    CCDSiCCDS2283.1.
    RefSeqiNP_002491.2. NM_002500.4.
    UniGeneiHs.574626.
    Hs.709709.

    Genome annotation databases

    EnsembliENST00000295108; ENSP00000295108; ENSG00000162992.
    GeneIDi4760.
    KEGGihsa:4760.
    UCSCiuc002uof.4. human.

    Polymorphism databases

    DMDMi311033428.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U50822 Genomic DNA. Translation: AAA93480.1 .
    D82347 mRNA. Translation: BAA11558.1 .
    AF045152 Genomic DNA. Translation: AAC83145.1 .
    AB018693 Genomic DNA. Translation: BAA76603.1 .
    AB009997 Genomic DNA. Translation: BAA87605.1 .
    AB016079 Genomic DNA. Translation: BAA36519.1 .
    BT019731 mRNA. Translation: AAV38536.1 .
    AK313799 mRNA. Translation: BAG36535.1 .
    AB593068 mRNA. Translation: BAJ84015.1 .
    AB593069 mRNA. Translation: BAJ84016.1 .
    AB593070 mRNA. Translation: BAJ84017.1 .
    AB593071 mRNA. Translation: BAJ84018.1 .
    AC013733 Genomic DNA. Translation: AAY24267.1 .
    CH471058 Genomic DNA. Translation: EAX10983.1 .
    BC009046 mRNA. Translation: AAH09046.1 .
    U80578 mRNA. Translation: AAC51318.1 .
    U36472 mRNA. Translation: AAA79702.1 .
    CCDSi CCDS2283.1.
    RefSeqi NP_002491.2. NM_002500.4.
    UniGenei Hs.574626.
    Hs.709709.

    3D structure databases

    ProteinModelPortali Q13562.
    SMRi Q13562. Positions 102-159.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110833. 9 interactions.
    IntActi Q13562. 1 interaction.
    STRINGi 9606.ENSP00000295108.

    PTM databases

    PhosphoSitei Q13562.

    Polymorphism databases

    DMDMi 311033428.

    Proteomic databases

    PaxDbi Q13562.
    PRIDEi Q13562.

    Protocols and materials databases

    DNASUi 4760.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295108 ; ENSP00000295108 ; ENSG00000162992 .
    GeneIDi 4760.
    KEGGi hsa:4760.
    UCSCi uc002uof.4. human.

    Organism-specific databases

    CTDi 4760.
    GeneCardsi GC02M182505.
    HGNCi HGNC:7762. NEUROD1.
    HPAi CAB022450.
    HPA003278.
    MIMi 125853. phenotype.
    601724. gene.
    606391. phenotype.
    606394. phenotype.
    neXtProti NX_Q13562.
    Orphaneti 552. MODY syndrome.
    PharmGKBi PA31564.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287211.
    HOVERGENi HBG000250.
    InParanoidi Q13562.
    KOi K08033.
    OMAi MNAQLNA.
    OrthoDBi EOG722J8S.
    PhylomeDBi Q13562.
    TreeFami TF315153.

    Enzyme and pathway databases

    Reactomei REACT_13650. Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells.
    REACT_13819. Regulation of gene expression in beta cells.

    Miscellaneous databases

    GeneWikii NEUROD1.
    GenomeRNAii 4760.
    NextBioi 18336.
    PROi Q13562.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13562.
    CleanExi HS_NEUROD1.
    Genevestigatori Q13562.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR022575. Neurogenic_DUF.
    IPR016637. TF_bHLH_NeuroD.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    PF12533. Neuro_bHLH. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF015618. bHLH_NeuroD. 1 hit.
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-45.
    2. "Molecular cloning of a human neuroD from a neuroblastoma cell line specifically expressed in the fetal brain and adult cerebellum."
      Yokoyama M., Nishi Y., Miyamoto Y., Nakamura M., Akiyama K., Matsubara K., Okubo K.
      Brain Res. Mol. Brain Res. 42:135-139(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-45.
    3. Furuta H., Horikawa Y., Iwasaki N., Hara M., Sussel L., le Beau M.M., Davis E.M., Ogata M., Iwamoto Y., German M.S., Bell G.I.
      Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-45.
    4. "Structure and regulation of the human NeuroD (BETA2/BHF1) gene."
      Miyachi T., Maruyama H., Kitamura T., Nakamura S., Kawakami H.
      Brain Res. Mol. Brain Res. 69:223-231(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-45.
    5. Noma T.
      Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-45.
    6. "Ala45Thr mutation of the human BETA2 gene."
      Kuroe A., Yamada Y., Kubota A., Someya Y., Iwakura T., Watanabe R., Inada A., Miyawaki K., Ban N., Ihara Y., Seino Y.
      Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-45.
    7. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    8. "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], VARIANT ALA-45.
      Tissue: Cerebellum.
    9. "Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method."
      Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S., Usami R., Ohtoko K., Kato S.
      Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-45.
    10. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    11. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-45.
    12. "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 ALA-45.
      Tissue: Eye.
    13. "cDNA cloning and expression analysis of NeuroD mRNA in human retina."
      Acharya H.R., Dooley C.M., Thoreson W.B., Ahmad I.
      Biochem. Biophys. Res. Commun. 233:459-463(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 88-200.
      Tissue: Retina.
    14. Shum C.H., Triche T.J.
      Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 147-198.
      Tissue: Rhabdomyosarcoma.
    15. "Novel transcriptional potentiation of BETA2/NeuroD on the secretin gene promoter by the DNA-binding protein Finb/RREB-1."
      Ray S.K., Nishitani J., Petry M.W., Fessing M.Y., Leiter A.B.
      Mol. Cell. Biol. 23:259-271(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RREB1.
    16. "Orphan nuclear receptor small heterodimer partner, a novel corepressor for a basic helix-loop-helix transcription factor BETA2/neuroD."
      Kim J.Y., Chu K., Kim H.J., Seong H.A., Park K.C., Sanyal S., Takeda J., Ha H., Shong M., Tsai M.J., Choi H.S.
      Mol. Endocrinol. 18:776-790(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NR0B2; EP300 AND TCF3, HETERODIMERIZATION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    17. "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus."
      Malecki M.T., Jhala U.S., Antonellis A., Fields L., Doria A., Orban T., Saad M., Warram J.H., Montminy M., Krolewski A.S.
      Nat. Genet. 23:323-328(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MODY6 LEU-111.

    Entry informationi

    Entry nameiNDF1_HUMAN
    AccessioniPrimary (citable) accession number: Q13562
    Secondary accession number(s): B2R9I8
    , F1T0E1, O00343, Q13340, Q5U095, Q96TH0, Q99455, Q9UEC8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 148 of the entry and version 3 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 2
      Human chromosome 2: 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