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Protein

Helix-loop-helix protein 1

Gene

NHLH1

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

Functioni

May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • central nervous system development Source: ProtInc
  • positive regulation of transcription by RNA polymerase II Source: NTNU_SB
  • regulation of transcription by RNA polymerase II Source: GO_Central

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ02575
SIGNORiQ02575

Names & Taxonomyi

Protein namesi
Recommended name:
Helix-loop-helix protein 1
Short name:
HEN-1
Alternative name(s):
Class A basic helix-loop-helix protein 35
Short name:
bHLHa35
Nescient helix loop helix 1
Short name:
NSCL-1
Gene namesi
Name:NHLH1
Synonyms:BHLHA35, HEN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000171786.5
HGNCiHGNC:7817 NHLH1
MIMi162360 gene
neXtProtiNX_Q02575

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

DisGeNETi4807
OpenTargetsiENSG00000171786
PharmGKBiPA31619

Polymorphism and mutation databases

BioMutaiNHLH1
DMDMi399885

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271971 – 133Helix-loop-helix protein 1Add BLAST133

Proteomic databases

PaxDbiQ02575
PRIDEiQ02575
ProteomicsDBi58111

PTM databases

iPTMnetiQ02575
PhosphoSitePlusiQ02575

Expressioni

Gene expression databases

BgeeiENSG00000171786 Expressed in 77 organ(s), highest expression level in cerebral cortex
CleanExiHS_NHLH1
ExpressionAtlasiQ02575 baseline and differential
GenevisibleiQ02575 HS

Organism-specific databases

HPAiCAB033854
HPA017943

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110872, 9 interactors
IntActiQ02575, 5 interactors
STRINGi9606.ENSP00000302189

Structurei

3D structure databases

ProteinModelPortaliQ02575
SMRiQ02575
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini75 – 127bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi66 – 71Poly-Arg6

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000016617
HOVERGENiHBG016345
InParanoidiQ02575
KOiK09075
OMAiMMLNSDA
PhylomeDBiQ02575

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
PfamiView protein in Pfam
PF00010 HLH, 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.

Q02575-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP
60 70 80 90 100
GEPGRKDLQH LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK
110 120 130
LLPTLPPDKK LSKIEILRLA ICYISYLNHV LDV
Length:133
Mass (Da):14,618
Last modified:July 1, 1993 - v1
Checksum:iFE90B574BE16D2C6
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97507 Genomic DNA Translation: AAA58634.1
BC013789 mRNA Translation: AAH13789.1
CCDSiCCDS1204.1
PIRiB46167 A45075
RefSeqiNP_005589.1, NM_005598.3
UniGeneiHs.30956

Genome annotation databases

EnsembliENST00000302101; ENSP00000302189; ENSG00000171786
GeneIDi4807
KEGGihsa:4807

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97507 Genomic DNA Translation: AAA58634.1
BC013789 mRNA Translation: AAH13789.1
CCDSiCCDS1204.1
PIRiB46167 A45075
RefSeqiNP_005589.1, NM_005598.3
UniGeneiHs.30956

3D structure databases

ProteinModelPortaliQ02575
SMRiQ02575
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110872, 9 interactors
IntActiQ02575, 5 interactors
STRINGi9606.ENSP00000302189

PTM databases

iPTMnetiQ02575
PhosphoSitePlusiQ02575

Polymorphism and mutation databases

BioMutaiNHLH1
DMDMi399885

Proteomic databases

PaxDbiQ02575
PRIDEiQ02575
ProteomicsDBi58111

Protocols and materials databases

DNASUi4807
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302101; ENSP00000302189; ENSG00000171786
GeneIDi4807
KEGGihsa:4807

Organism-specific databases

CTDi4807
DisGeNETi4807
EuPathDBiHostDB:ENSG00000171786.5
GeneCardsiNHLH1
HGNCiHGNC:7817 NHLH1
HPAiCAB033854
HPA017943
MIMi162360 gene
neXtProtiNX_Q02575
OpenTargetsiENSG00000171786
PharmGKBiPA31619
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000016617
HOVERGENiHBG016345
InParanoidiQ02575
KOiK09075
OMAiMMLNSDA
PhylomeDBiQ02575

Enzyme and pathway databases

SignaLinkiQ02575
SIGNORiQ02575

Miscellaneous databases

GeneWikiiNHLH1
GenomeRNAii4807
PROiPR:Q02575
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171786 Expressed in 77 organ(s), highest expression level in cerebral cortex
CleanExiHS_NHLH1
ExpressionAtlasiQ02575 baseline and differential
GenevisibleiQ02575 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
PfamiView protein in Pfam
PF00010 HLH, 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 nameiHEN1_HUMAN
AccessioniPrimary (citable) accession number: Q02575
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: November 7, 2018
This is version 155 of the entry and version 1 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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