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Protein

Neurogenic differentiation factor 4

Gene

NEUROD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiQ9HD90

Names & Taxonomyi

Protein namesi
Recommended name:
Neurogenic differentiation factor 4
Short name:
NeuroD4
Alternative name(s):
Class A basic helix-loop-helix protein 4
Short name:
bHLHa4
Protein atonal homolog 3
Short name:
ATH-3
Short name:
Atoh3
Gene namesi
Name:NEUROD4
Synonyms:ATH3, ATOH3, BHLHA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000123307.3
HGNCiHGNC:13802 NEUROD4
MIMi611635 gene
neXtProtiNX_Q9HD90

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

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi58158
OpenTargetsiENSG00000123307
PharmGKBiPA31566

Polymorphism and mutation databases

BioMutaiNEUROD4
DMDMi296439241

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001273901 – 331Neurogenic differentiation factor 4Add BLAST331

Post-translational modificationi

Serine or threonine phosphorylation within the basic region may regulate neurogenic activity.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9HD90
PeptideAtlasiQ9HD90
PRIDEiQ9HD90
ProteomicsDBi81843

PTM databases

iPTMnetiQ9HD90
PhosphoSitePlusiQ9HD90

Expressioni

Gene expression databases

BgeeiENSG00000123307 Expressed in 13 organ(s), highest expression level in pituitary gland
CleanExiHS_NEUROD4
GenevisibleiQ9HD90 HS

Organism-specific databases

HPAiHPA015545

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEB4O154814EBI-3917781,EBI-751857

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121799, 2 interactors
IntActiQ9HD90, 4 interactors
STRINGi9606.ENSP00000242994

Structurei

3D structure databases

ProteinModelPortaliQ9HD90
SMRiQ9HD90
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini87 – 139bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi49 – 65Asp/Glu-rich (acidic)Add BLAST17

Phylogenomic databases

eggNOGiENOG410KD2S Eukaryota
ENOG410Z6FG LUCA
GeneTreeiENSGT00680000099860
HOGENOMiHOG000049256
HOVERGENiHBG000250
InParanoidiQ9HD90
KOiK09079
OMAiPPYGHME
OrthoDBiEOG091G15AI
PhylomeDBiQ9HD90
TreeFamiTF315153

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
IPR032651 Neurod4
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD
PANTHERiPTHR19290:SF86 PTHR19290:SF86, 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

Sequencei

Sequence statusi: Complete.

Q9HD90-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSKTFVKSKE MGELVNTPSW MDKGLGSQNE VKEEESRPGT YGMLSSLTEE
60 70 80 90 100
HDSIEEEEEE EEDGEKPKRR GPKKKKMTKA RLERFRARRV KANARERTRM
110 120 130 140 150
HGLNDALDNL RRVMPCYSKT QKLSKIETLR LARNYIWALS EVLETGQTPE
160 170 180 190 200
GKGFVEMLCK GLSQPTSNLV AGCLQLGPQS VLLEKHEDKS PICDSAISVH
210 220 230 240 250
NFNYQSPGLP SPPYGHMETH LLHLKPQVFK SLGESSFGSH LPDCSTPPYE
260 270 280 290 300
GPLTPPLSIS GNFSLKQDGS PDLEKSYSFM PHYPSSSLSS GHVHSTPFQA
310 320 330
GTPRYDVPID MSYDSYPHHG IGTQLNTVFT E
Length:331
Mass (Da):37,041
Last modified:May 18, 2010 - v2
Checksum:iEBA3DC61B70ABF28
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti194D → G in AAF99097 (PubMed:11078465).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01297968K → T1 PublicationCorresponds to variant dbSNP:rs76064726Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF203901 Genomic DNA Translation: AAF99097.1
AK314136 mRNA Translation: BAG36826.1
AC027287 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96803.1
CCDSiCCDS8886.1
RefSeqiNP_067014.2, NM_021191.2
UniGeneiHs.591024

Genome annotation databases

EnsembliENST00000242994; ENSP00000242994; ENSG00000123307
GeneIDi58158
KEGGihsa:58158
UCSCiuc001sgp.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF203901 Genomic DNA Translation: AAF99097.1
AK314136 mRNA Translation: BAG36826.1
AC027287 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96803.1
CCDSiCCDS8886.1
RefSeqiNP_067014.2, NM_021191.2
UniGeneiHs.591024

3D structure databases

ProteinModelPortaliQ9HD90
SMRiQ9HD90
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121799, 2 interactors
IntActiQ9HD90, 4 interactors
STRINGi9606.ENSP00000242994

PTM databases

iPTMnetiQ9HD90
PhosphoSitePlusiQ9HD90

Polymorphism and mutation databases

BioMutaiNEUROD4
DMDMi296439241

Proteomic databases

PaxDbiQ9HD90
PeptideAtlasiQ9HD90
PRIDEiQ9HD90
ProteomicsDBi81843

Protocols and materials databases

DNASUi58158
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242994; ENSP00000242994; ENSG00000123307
GeneIDi58158
KEGGihsa:58158
UCSCiuc001sgp.5 human

Organism-specific databases

CTDi58158
DisGeNETi58158
EuPathDBiHostDB:ENSG00000123307.3
GeneCardsiNEUROD4
H-InvDBiHIX0026506
HGNCiHGNC:13802 NEUROD4
HPAiHPA015545
MIMi611635 gene
neXtProtiNX_Q9HD90
OpenTargetsiENSG00000123307
PharmGKBiPA31566
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KD2S Eukaryota
ENOG410Z6FG LUCA
GeneTreeiENSGT00680000099860
HOGENOMiHOG000049256
HOVERGENiHBG000250
InParanoidiQ9HD90
KOiK09079
OMAiPPYGHME
OrthoDBiEOG091G15AI
PhylomeDBiQ9HD90
TreeFamiTF315153

Enzyme and pathway databases

SIGNORiQ9HD90

Miscellaneous databases

ChiTaRSiNEUROD4 human
GenomeRNAii58158
PROiPR:Q9HD90
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123307 Expressed in 13 organ(s), highest expression level in pituitary gland
CleanExiHS_NEUROD4
GenevisibleiQ9HD90 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
IPR032651 Neurod4
IPR022575 Neurogenic_DUF
IPR016637 TF_bHLH_NeuroD
PANTHERiPTHR19290:SF86 PTHR19290:SF86, 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
ProtoNetiSearch...

Entry informationi

Entry nameiNDF4_HUMAN
AccessioniPrimary (citable) accession number: Q9HD90
Secondary accession number(s): B2RAC9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 134 of the entry and version 2 of the sequence. See 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 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 12
    Human chromosome 12: 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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