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Q13562

- NDF1_HUMAN

UniProt

Q13562 - NDF1_HUMAN

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Protein
Neurogenic differentiation factor 1
Gene
NEUROD1, BHLHA3, NEUROD
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

GO - Molecular functioni

  1. E-box binding Source: UniProtKB
  2. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  3. RNA polymerase II transcription coactivator activity Source: BHF-UCL
  4. chromatin binding Source: UniProtKB
  5. double-stranded DNA binding Source: Ensembl
  6. protein binding Source: UniProtKB
  7. protein heterodimerization activity Source: UniProtKB
  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
Complete GO annotation...

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 from RNA polymerase II promoter Source: BHF-UCL
  24. positive regulation of transcription regulatory region DNA binding Source: BHF-UCL
  25. positive regulation of transcription, DNA-templated Source: UniProtKB
  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
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_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
Note: In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation By similarity. Colocalizes with NR0B2 in the nucleus.1 Publication

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 1
PRO_0000127381Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei162 – 1621Phosphoserine By similarity
Modified residuei259 – 2591Phosphoserine By similarity
Modified residuei266 – 2661Phosphoserine By similarity
Modified residuei274 – 2741Phosphoserine By similarity
Modified residuei335 – 3351Phosphoserine; by CaMK2 By 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.

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 ID2.2 Publications

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ13562.
SMRiQ13562. Positions 102-159.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini101 – 15353bHLH
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi87 – 937Nuclear localization signal Reviewed prediction

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

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

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 conflict

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

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 147 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

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