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Protein

Neurogenic differentiation factor 1

Gene

NEUROD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

GO - Molecular functioni

GO - Biological processi

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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:7762. NEUROD1.

Subcellular locationi

  • Cytoplasm By similarity
  • Nucleus PROSITE-ProRule annotation1 Publication

  • 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

  • cytoplasm Source: UniProtKB-SubCell
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • RNA polymerase II transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Maturity-onset diabetes of the young 6 (MODY6)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:606394
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.
PharmGKBiPA31564.

Polymorphism and mutation databases

BioMutaiNEUROD1.
DMDMi311033428.

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.
GenevisibleiQ13562. HS.

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. Interacts with ATOH8 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi110833. 16 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.
GeneTreeiENSGT00680000099860.
HOVERGENiHBG000250.
InParanoidiQ13562.
KOiK08033.
OMAiPDLMSFV.
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

        10         20         30         40         50
MTKSYSESGL MGEPQPQGPP SWTDECLSSQ DEEHEADKKE DDLETMNAEE
60 70 80 90 100
DSLRNGGEEE DEDEDLEEEE EEEEEDDDQK PKRRGPKKKK MTKARLERFK
110 120 130 140 150
LRRMKANARE RNRMHGLNAA LDNLRKVVPC YSKTQKLSKI ETLRLAKNYI
160 170 180 190 200
WALSEILRSG KSPDLVSFVQ TLCKGLSQPT TNLVAGCLQL NPRTFLPEQN
210 220 230 240 250
QDMPPHLPTA SASFPVHPYS YQSPGLPSPP YGTMDSSHVF HVKPPPHAYS
260 270 280 290 300
AALEPFFESP LTDCTSPSFD GPLSPPLSIN GNFSFKHEPS AEFEKNYAFT
310 320 330 340 350
MHYPAATLAG AQSHGSIFSG TAAPRCEIPI DNIMSFDSHS HHERVMSAQL

NAIFHD
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 (Ref. 5) Curated
Sequence conflicti232 – 2321G → D in BAA36519 (Ref. 6) Curated

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:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi110833. 16 interactions.
IntActiQ13562. 1 interaction.
STRINGi9606.ENSP00000295108.

PTM databases

PhosphoSiteiQ13562.

Polymorphism and mutation databases

BioMutaiNEUROD1.
DMDMi311033428.

Proteomic databases

PaxDbiQ13562.
PRIDEiQ13562.

Protocols and materials databases

DNASUi4760.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4760.
GeneCardsiGC02M182505.
HGNCiHGNC:7762. NEUROD1.
HPAiCAB022450.
HPA003278.
MIMi125853. phenotype.
601724. gene.
606391. phenotype.
606394. phenotype.
neXtProtiNX_Q13562.
Orphaneti552. MODY.
PharmGKBiPA31564.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG287211.
GeneTreeiENSGT00680000099860.
HOVERGENiHBG000250.
InParanoidiQ13562.
KOiK08033.
OMAiPDLMSFV.
OrthoDBiEOG722J8S.
PhylomeDBiQ13562.
TreeFamiTF315153.

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.

Miscellaneous databases

GeneWikiiNEUROD1.
GenomeRNAii4760.
NextBioi18336.
PROiQ13562.
SOURCEiSearch...

Gene expression databases

BgeeiQ13562.
CleanExiHS_NEUROD1.
GenevisibleiQ13562. HS.

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]
ProtoNetiSearch...

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: July 22, 2015
This is version 155 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.