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Protein

Achaete-scute homolog 3

Gene

ASCL3

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

Functioni

Transcriptional repressor. Inhibits myogenesis (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Achaete-scute homolog 3
Short name:
ASH-3
Short name:
hASH3
Alternative name(s):
Class A basic helix-loop-helix protein 42
Short name:
bHLHa42
bHLH transcriptional regulator Sgn-1
Gene namesi
Name:ASCL3
Synonyms:BHLHA42, HASH3, SGN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000176009.3
HGNCiHGNC:740 ASCL3
MIMi609154 gene
neXtProtiNX_Q9NQ33

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

PharmGKBiPA25040

Polymorphism and mutation databases

BioMutaiASCL3
DMDMi20454833

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271331 – 180Achaete-scute homolog 3Add BLAST180

Proteomic databases

PaxDbiQ9NQ33
PRIDEiQ9NQ33
ProteomicsDBi82068

PTM databases

iPTMnetiQ9NQ33
PhosphoSitePlusiQ9NQ33

Expressioni

Tissue specificityi

Widely expressed in fetal and adult tissues.1 Publication

Gene expression databases

BgeeiENSG00000176009 Expressed in 23 organ(s), highest expression level in minor salivary gland
CleanExiHS_ASCL3
GenevisibleiQ9NQ33 HS

Organism-specific databases

HPAiHPA027032

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121184, 6 interactors
IntActiQ9NQ33, 6 interactors
STRINGi9606.ENSP00000318846

Structurei

3D structure databases

ProteinModelPortaliQ9NQ33
SMRiQ9NQ33
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini92 – 144bHLHPROSITE-ProRule annotationAdd BLAST53

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
HOGENOMiHOG000034089
HOVERGENiHBG050591
InParanoidiQ9NQ33
KOiK09067
OMAiGYAQLRH
OrthoDBiEOG091G0OGL
PhylomeDBiQ9NQ33
TreeFamiTF322889

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
IPR015660 MASH1/Ascl1a-like
PANTHERiPTHR13935 PTHR13935, 1 hit
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.

Q9NQ33-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDNRGNSSLP DKLPIFPDSA RLPLTRSFYL EPMVTFHVHP EAPVSSPYSE
60 70 80 90 100
ELPRLPFPSD SLILGNYSEP CPFSFPMPYP NYRGCEYSYG PAFTRKRNER
110 120 130 140 150
ERQRVKCVNE GYAQLRHHLP EEYLEKRLSK VETLRAAIKY INYLQSLLYP
160 170 180
DKAETKNNPG KVSSMIATTS HHADPMFRIV
Length:180
Mass (Da):20,797
Last modified:May 2, 2002 - v2
Checksum:iC9B90C885DE94F81
GO

Sequence cautioni

The sequence CAB92288 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05594854R → L1 PublicationCorresponds to variant dbSNP:rs4909951Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB046450 Genomic DNA Translation: BAB83913.1
AJ400877 Genomic DNA Translation: CAB92288.1 Different initiation.
RefSeqiNP_065697.1, NM_020646.2
UniGeneiHs.501852

Genome annotation databases

EnsembliENST00000531618; ENSP00000435770; ENSG00000176009
GeneIDi56676
KEGGihsa:56676
UCSCiuc057yvn.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB046450 Genomic DNA Translation: BAB83913.1
AJ400877 Genomic DNA Translation: CAB92288.1 Different initiation.
RefSeqiNP_065697.1, NM_020646.2
UniGeneiHs.501852

3D structure databases

ProteinModelPortaliQ9NQ33
SMRiQ9NQ33
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121184, 6 interactors
IntActiQ9NQ33, 6 interactors
STRINGi9606.ENSP00000318846

PTM databases

iPTMnetiQ9NQ33
PhosphoSitePlusiQ9NQ33

Polymorphism and mutation databases

BioMutaiASCL3
DMDMi20454833

Proteomic databases

PaxDbiQ9NQ33
PRIDEiQ9NQ33
ProteomicsDBi82068

Protocols and materials databases

DNASUi56676
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000531618; ENSP00000435770; ENSG00000176009
GeneIDi56676
KEGGihsa:56676
UCSCiuc057yvn.1 human

Organism-specific databases

CTDi56676
EuPathDBiHostDB:ENSG00000176009.3
GeneCardsiASCL3
HGNCiHGNC:740 ASCL3
HPAiHPA027032
MIMi609154 gene
neXtProtiNX_Q9NQ33
PharmGKBiPA25040
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
HOGENOMiHOG000034089
HOVERGENiHBG050591
InParanoidiQ9NQ33
KOiK09067
OMAiGYAQLRH
OrthoDBiEOG091G0OGL
PhylomeDBiQ9NQ33
TreeFamiTF322889

Miscellaneous databases

GenomeRNAii56676
PROiPR:Q9NQ33
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176009 Expressed in 23 organ(s), highest expression level in minor salivary gland
CleanExiHS_ASCL3
GenevisibleiQ9NQ33 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
IPR015660 MASH1/Ascl1a-like
PANTHERiPTHR13935 PTHR13935, 1 hit
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 nameiASCL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ33
Secondary accession number(s): Q8WYQ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: September 12, 2018
This is version 137 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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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