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Protein

Neurogenic differentiation factor 4

Gene

NEUROD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript 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

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

BioCyciZFISH:ENSG00000123307-MONOMER.

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

HGNCiHGNC:13802. NEUROD4.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

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.

PTM databases

iPTMnetiQ9HD90.
PhosphoSitePlusiQ9HD90.

Expressioni

Gene expression databases

BgeeiENSG00000123307.
CleanExiHS_NEUROD4.
GenevisibleiQ9HD90. HS.

Organism-specific databases

HPAiCAB010278.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi121799. 2 interactors.
IntActiQ9HD90. 3 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

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

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

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR032651. Neurod4.
IPR022575. Neurogenic_DUF.
IPR016637. TF_bHLH_NeuroD.
[Graphical view]
PANTHERiPTHR19290:SF86. PTHR19290:SF86. 1 hit.
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.

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 → T.1 PublicationCorresponds to variant rs76064726dbSNPEnsembl.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

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. 3 interactors.
STRINGi9606.ENSP00000242994.

PTM databases

iPTMnetiQ9HD90.
PhosphoSitePlusiQ9HD90.

Polymorphism and mutation databases

BioMutaiNEUROD4.
DMDMi296439241.

Proteomic databases

PaxDbiQ9HD90.
PeptideAtlasiQ9HD90.
PRIDEiQ9HD90.

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.
GeneCardsiNEUROD4.
H-InvDBHIX0026506.
HGNCiHGNC:13802. NEUROD4.
HPAiCAB010278.
MIMi611635. gene.
neXtProtiNX_Q9HD90.
OpenTargetsiENSG00000123307.
PharmGKBiPA31566.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123307-MONOMER.

Miscellaneous databases

GenomeRNAii58158.
PROiQ9HD90.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123307.
CleanExiHS_NEUROD4.
GenevisibleiQ9HD90. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR032651. Neurod4.
IPR022575. Neurogenic_DUF.
IPR016637. TF_bHLH_NeuroD.
[Graphical view]
PANTHERiPTHR19290:SF86. PTHR19290:SF86. 1 hit.
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...

Entry informationi

Entry nameiNDF4_HUMAN
AccessioniPrimary (citable) accession number: Q9HD90
Secondary accession number(s): B2RAC9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 121 of the entry and version 2 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 12
    Human chromosome 12: 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

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 one 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.