NEUROD1

Protein identityUniProt · HPA

UniProt accession

Q13562

Gene

NEUROD1

Ensembl

ENSG00000162992

Chromosome

2

Canonical length

356 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

356 residues, UniProt reviewed canonical sequence.

>Q13562|NEUROD1
     1  MTKSYSESGL MGEPQPQGPP SWTDECLSSQ DEEHEADKKE DDLETMNAEE DSLRNGGEEE
    61  DEDEDLEEEE EEEEEDDDQK PKRRGPKKKK MTKARLERFK LRRMKANARE RNRMHGLNAA
   121  LDNLRKVVPC YSKTQKLSKI ETLRLAKNYI WALSEILRSG KSPDLVSFVQ TLCKGLSQPT
   181  TNLVAGCLQL NPRTFLPEQN QDMPPHLPTA SASFPVHPYS YQSPGLPSPP YGTMDSSHVF
   241  HVKPPPHAYS AALEPFFESP LTDCTSPSFD GPLSPPLSIN GNFSFKHEPS AEFEKNYAFT
   301  MHYPAATLAG AQSHGSIFSG TAAPRCEIPI DNIMSFDSHS HHERVMSAQL NAIFHD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NEUROD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.62

Highest tissue expression

167 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NEUROD1.

Disease | AllUniProt

Conditions NEUROD1 is implicated in, by any mechanism.

• Maturity-onset diabetes of the young 6 (MODY6) MIM:606394
• Type 2 diabetes mellitus (T2D) MIM:125853

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 337 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Maturity-onset diabetes of the young type 6
• Type 2 diabetes mellitus
• Retinal dystrophy
• NEUROD1-related disorder

Disease | AutoantibodyPubMed

Conditions in which antibodies against NEUROD1 are reported. Each links to that disease's full target list.

• Antiphospholipid Syndrome 10
• Lupus Erythematosus, Systemic 7
• Abortion, Habitual 3
• Thrombosis 3

ReferencesPubMed · IEDB

Publications for NEUROD1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.51

gnomAD pLI

0.77

gnomAD missense Z

0.23

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amacrine cell differentiation
• anterior/posterior pattern specification
• axon development
• cell surface receptor signaling pathway via JAK-STAT
• cellular response to glucocorticoid stimulus
• cerebellum development
• dentate gyrus development
• embryonic organ morphogenesis
• endocrine pancreas development
• enteroendocrine cell differentiation
• glucose homeostasis
• inner ear development
• insulin secretion
• negative regulation of receptor signaling pathway via JAK-STAT
• negative regulation of type B pancreatic cell apoptotic process
• neurogenesis
• pancreatic A cell fate commitment
• pancreatic PP cell fate commitment
• positive regulation of apoptotic process
• positive regulation of cell differentiation
• positive regulation of DNA-binding transcription factor activity
• positive regulation of DNA-templated transcription
• positive regulation of insulin secretion
• positive regulation of neuron differentiation
• positive regulation of transcription by RNA polymerase II
• regulation of insulin secretion
• response to glucose
• sensory organ development
• signal transduction involved in regulation of gene expression
• transcription by RNA polymerase II
• regulation of intestinal epithelial structure maintenance

Molecular functions

• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• E-box binding
• protein heterodimerization activity
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytoplasm
• nucleoplasm
• nucleus
• RNA polymerase II transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Neurogenic differentiation factor NeuroD
• Neurogenic differentiation factor, domain of unknown function
• Helix-loop-helix DNA-binding domain superfamily
• Basic helix-loop-helix transcription factors
• Helix-loop-helix DNA-binding domain
• Neuronal helix-loop-helix transcription factor

KeywordsUniProt

• Activator
• Cytoplasm
• Developmental protein
• Diabetes mellitus
• Differentiation
• DNA-binding
• Neurogenesis
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of NEUROD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATOH8
• EP300
• RREB1
• MAFA