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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-210745 Regulation of gene expression in beta cells
R-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

SIGNOR Signaling Network Open Resource

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SIGNORi
Q13562

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NEUROD1
Synonyms:BHLHA3, NEUROD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000162992.3

Human Gene Nomenclature Database

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HGNCi
HGNC:7762 NEUROD1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601724 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q13562

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Maturity-onset diabetes of the young 6 (MODY6)3 Publications
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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076552103R → P in MODY6. 1 Publication1
Natural variantiVAR_076553110E → K in MODY6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763092306Ensembl.1
Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012487111R → L in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs104893649EnsemblClinVar.1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4760

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
NEUROD1

MalaCards human disease database

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MalaCardsi
NEUROD1
MIMi125853 phenotype
606394 phenotype

Open Targets

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OpenTargetsi
ENSG00000162992

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
552 MODY

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31564

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NEUROD1

Domain mapping of disease mutations (DMDM)

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DMDMi
311033428

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001273811 – 356Neurogenic differentiation factor 1Add BLAST356

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei162PhosphoserineBy similarity1
Modified residuei259PhosphoserineBy similarity1
Modified residuei266PhosphoserineBy similarity1
Modified residuei274PhosphoserineBy similarity1
Modified residuei335Phosphoserine; by CaMK2By similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q13562

PeptideAtlas

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PeptideAtlasi
Q13562

PRoteomics IDEntifications database

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PRIDEi
Q13562

ProteomicsDB human proteome resource

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ProteomicsDBi
59561

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q13562

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13562

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q13562

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000162992 Expressed in 73 organ(s), highest expression level in paraflocculus

CleanEx database of gene expression profiles

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CleanExi
HS_NEUROD1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13562 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13562 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB022450
HPA003278

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110833, 16 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13562

Protein interaction database and analysis system

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IntActi
Q13562, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000295108

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13562

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13562

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini101 – 153bHLHPROSITE-ProRule annotationAdd BLAST53

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi87 – 93Nuclear localization signalSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi58 – 77Glu-rich (acidic)Add BLAST20
Compositional biasi67 – 75Poly-Glu9
Compositional biasi87 – 90Poly-Lys4

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410KD2S Eukaryota
ENOG410Z6FG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160478

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000250

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13562

KEGG Orthology (KO)

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KOi
K08033

Identification of Orthologs from Complete Genome Data

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OMAi
HIFHQVK

Database of Orthologous Groups

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OrthoDBi
890925at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13562

TreeFam database of animal gene trees

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TreeFami
TF315153

Family and domain databases

Conserved Domains Database

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CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032652 Neurod1
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD

The PANTHER Classification System

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PANTHERi
PTHR19290:SF88 PTHR19290:SF88, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00010 HLH, 1 hit
PF12533 Neuro_bHLH, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF015618 bHLH_NeuroD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB78075D1CF66E943
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti157L → S in AAA93480 (PubMed:8786144).Curated1
Sequence conflicti185A → G in BAA11558 (PubMed:8915591).Curated1
Sequence conflicti185A → G in BAA87605 (Ref. 5) Curated1
Sequence conflicti232G → D in BAA36519 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01482045T → A10 PublicationsCorresponds to variant dbSNP:rs1801262Ensembl.1
Natural variantiVAR_076552103R → P in MODY6. 1 Publication1
Natural variantiVAR_076553110E → K in MODY6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763092306Ensembl.1
Natural variantiVAR_012487111R → L in NIDDM. 1 PublicationCorresponds to variant dbSNP:rs104893649EnsemblClinVar.1
Natural variantiVAR_031260197P → H. Corresponds to variant dbSNP:rs8192556EnsemblClinVar.1
Natural variantiVAR_076554242V → I Found in one consanguineous family with non-syndromic autosomal recessive retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs786205158EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2283.1

NCBI Reference Sequences

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RefSeqi
NP_002491.2, NM_002500.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.574626
Hs.709709

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000295108; ENSP00000295108; ENSG00000162992

Database of genes from NCBI RefSeq genomes

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GeneIDi
4760

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4760

UCSC genome browser

More...
UCSCi
uc002uof.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110833, 16 interactors
CORUMiQ13562
IntActiQ13562, 3 interactors
STRINGi9606.ENSP00000295108

PTM databases

CarbonylDBiQ13562
iPTMnetiQ13562
PhosphoSitePlusiQ13562

Polymorphism and mutation databases

BioMutaiNEUROD1
DMDMi311033428

Proteomic databases

PaxDbiQ13562
PeptideAtlasiQ13562
PRIDEiQ13562
ProteomicsDBi59561

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4760
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295108; ENSP00000295108; ENSG00000162992
GeneIDi4760
KEGGihsa:4760
UCSCiuc002uof.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4760
DisGeNETi4760
EuPathDBiHostDB:ENSG00000162992.3

GeneCards: human genes, protein and diseases

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GeneCardsi
NEUROD1
GeneReviewsiNEUROD1
HGNCiHGNC:7762 NEUROD1
HPAiCAB022450
HPA003278
MalaCardsiNEUROD1
MIMi125853 phenotype
601724 gene
606394 phenotype
neXtProtiNX_Q13562
OpenTargetsiENSG00000162992
Orphaneti552 MODY
PharmGKBiPA31564

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410KD2S Eukaryota
ENOG410Z6FG LUCA
GeneTreeiENSGT00940000160478
HOVERGENiHBG000250
InParanoidiQ13562
KOiK08033
OMAiHIFHQVK
OrthoDBi890925at2759
PhylomeDBiQ13562
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-210745 Regulation of gene expression in beta cells
R-HSA-210746 Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells
SIGNORiQ13562

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NEUROD1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4760

Protein Ontology

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PROi
PR:Q13562

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000162992 Expressed in 73 organ(s), highest expression level in paraflocculus
CleanExiHS_NEUROD1
ExpressionAtlasiQ13562 baseline and differential
GenevisibleiQ13562 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032652 Neurod1
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD
PANTHERiPTHR19290:SF88 PTHR19290:SF88, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF12533 Neuro_bHLH, 1 hit
PIRSFiPIRSF015618 bHLH_NeuroD, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNDF1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13562
Secondary accession number(s): B2R9I8
, F1T0E1, O00343, Q13340, Q5U095, Q96TH0, Q99455, Q9UEC8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: January 16, 2019
This is version 183 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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