Q15784 (NDF2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neurogenic differentiation factor 2
Short name=NeuroD2

Alternative name(s):
Class A basic helix-loop-helix protein 1
Short name=bHLHa1
NeuroD-related factor
Short name=NDRF

Gene names

Name:	NEUROD2
Synonyms:	BHLHA1, NDRF

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	382 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transcriptional regulator implicated in neuronal determination. Mediates calcium-dependent transcription activation by binding to E box-containing promoter. Critical factor essential for the repression of the genetic program for neuronal differentiation; prevents the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Induces transcription of ZEB1, which in turn represses neuronal differentiation by down-regulating REST expression. Plays a role in the establishment and maturation of thalamocortical connections; involved in the segregation of thalamic afferents into distinct barrel domains within layer VI of the somatosensory cortex. Involved in the development of the cerebellar and hippocampal granular neurons, neurons in the basolateral nucleus of amygdala and the hypothalamic-pituitary axis. Associates with chromatin to the DPYSL3 E box-containing promoter By similarity.
Subunit structure	Interacts with TCF3, TCF4 and TCF12. Interacts with CDC20. Efficient DNA-binding and transcription activation require dimerization with another bHLH protein By similarity.
Subcellular location	Nucleus By similarity.
Domain	The C-terminus region is necessary for depolarization-induced and calcium-dependent transcription activation By similarity.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	associative learning Inferred from electronic annotation. Source: Compara behavioral fear response Inferred from electronic annotation. Source: Compara cellular response to calcium ion Inferred from sequence or structural similarity. Source: UniProtKB cellular response to electrical stimulus Inferred from sequence or structural similarity. Source: UniProtKB cerebellar cortex development Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of synapse maturation Inferred from sequence or structural similarity. Source: UniProtKB neuron development Inferred from electronic annotation. Source: Compara positive regulation of calcium-mediated signaling Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of neuron differentiation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of synapse maturation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of synaptic plasticity Inferred from sequence or structural similarity. Source: UniProtKB protein ubiquitination Inferred from sequence or structural similarity. Source: UniProtKB regulation of transcription from RNA polymerase II promoter Traceable author statement Ref.1. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	E-box binding Inferred from sequence or structural similarity. Source: UniProtKB protein heterodimerization activity Inferred from sequence or structural similarity. Source: UniProtKB sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc transcription corepressor activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 382	382	Neurogenic differentiation factor 2		PRO_0000127387
Regions
	Domain	121 – 173	53	bHLH
	Motif	107 – 113	7	Nuclear localization signal Potential
	Compositional bias	37 – 46	10	Poly-Pro
	Compositional bias	82 – 91	10	Poly-Glu
	Compositional bias	282 – 285	4	Poly-Gly
Experimental info
	Sequence conflict	104	1	R → G in AAH22481. Ref.4
	Sequence conflict	337 – 338	2	PT → H in BAA77569. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q15784 [UniParc]. Last modified May 30, 2000. Version 2. Checksum: E33AA5C0BE371B47	FASTA	382	41,361
	10 20 30 40 50 60 MLTRLFSEPG LLSDVPKFAS WGDGEDDEPR SDKGDAPPPP PPAPGPGAPG PARAAKPVPL 70 80 90 100 110 120 RGEEGTEATL AEVKEEGELG GEEEEEEEEE EGLDEAEGER PKKRGPKKRK MTKARLERSK 130 140 150 160 170 180 LRRQKANARE RNRMHDLNAA LDNLRKVVPC YSKTQKLSKI ETLRLAKNYI WALSEILRSG 190 200 210 220 230 240 KRPDLVSYVQ TLCKGLSQPT TNLVAGCLQL NSRNFLTEQG ADGAGRFHGS GGPFAMHPYP 250 260 270 280 290 300 YPCSRLAGAQ CQAAGGLGGG AAHALRTHGY CAAYETLYAA AGGGGASPDY NSSEYEGPLS 310 320 330 340 350 360 PPLCLNGNFS LKQDSSPDHE KSYHYSMHYS ALPGSRPTGH GLVFGSSAVR GGVHSENLLS 370 380 YDMHLHHDRG PMYEELNAFF HN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"NeuroD2 and neuroD3: distinct expression patterns and transcriptional activation potentials within the neuroD gene family." McCormick M.B., Tamimi R.M., Snider L., Asakura A., Bergstrom D., Tapscott S.J. Mol. Cell. Biol. 16:5792-5800(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	Tapscott S.J., Tamimi R.T., McCormick B.M. Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO 336-338.
[3]	"Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)." Kitamura T., Miyachi T., Nakamura S., Kawakami H. Biochim. Biophys. Acta 1445:142-147(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"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]. Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U58681 Genomic DNA. Translation: AAC26058.1. AB021742 mRNA. Translation: BAA77569.1. BC022481 mRNA. Translation: AAH22481.1.
IPI	IPI00302045.
PIR	G02668.
RefSeq	NP_006151.3. NM_006160.3.
UniGene	Hs.322431.
3D structure databases
ProteinModelPortal	Q15784.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000306754.
PTM databases
PhosphoSite	Q15784.
Polymorphism databases
DMDM	6226655.
Proteomic databases
PaxDb	Q15784.
PRIDE	Q15784.
Protocols and materials databases
DNASU	4761.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000302584; ENSP00000306754; ENSG00000171532.
GeneID	4761.
KEGG	hsa:4761.
UCSC	uc002hry.3. human.
Organism-specific databases
CTD	4761.
GeneCards	GC17M037760.
HGNC	HGNC:7763. NEUROD2.
MIM	601725. gene.
neXtProt	NX_Q15784.
PharmGKB	PA31565.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG268401.
HOGENOM	HOG000049256.
HOVERGEN	HBG000250.
InParanoid	Q15784.
KO	K09078.
OMA	CINGNFS.
OrthoDB	EOG4QC162.
PhylomeDB	Q15784.
Gene expression databases
Bgee	Q15784.
CleanEx	HS_NEUROD2.
Genevestigator	Q15784.
GermOnline	ENSG00000171532. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. IPR022575. Neurogenic_DUF. IPR016637. TF_bHLH_NeuroD. [Graphical view]
Pfam	PF00010. HLH. 1 hit. PF12533. Neuro_bHLH. 1 hit. [Graphical view]
PIRSF	PIRSF015618. bHLH_NeuroD. 1 hit.
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4761.
NextBio	18340.
SOURCE	Search...

Entry information

Entry name

NDF2_HUMAN

Accession

Primary (citable) accession number: Q15784
Secondary accession number(s): Q8TBI7, Q9UQC6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 30, 2000
Last modified:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.