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Q9NQ33 (ASCL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 14, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ASCL3
Synonyms:BHLHA42, HASH3, SGN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length180 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Transcriptional repressor. Inhibits myogenesis By similarity.

Subunit structure

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

Subcellular location

Nucleus.

Tissue specificity

Widely expressed in fetal and adult tissues. Ref.3

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence caution

The sequence CAB92288.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandDNA-binding
   Molecular functionRepressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 180180Achaete-scute homolog 3
PRO_0000127133

Regions

Domain92 – 14453bHLH

Natural variations

Natural variant541R → L. Ref.1
Corresponds to variant rs4909951 [ dbSNP | Ensembl ].
VAR_055948

Sequences

Sequence LengthMass (Da)Tools
Q9NQ33 [UniParc].

Last modified May 2, 2002. Version 2.
Checksum: C9B90C885DE94F81

FASTA18020,797
        10         20         30         40         50         60 
MDNRGNSSLP DKLPIFPDSA RLPLTRSFYL EPMVTFHVHP EAPVSSPYSE ELPRLPFPSD 

        70         80         90        100        110        120 
SLILGNYSEP CPFSFPMPYP NYRGCEYSYG PAFTRKRNER ERQRVKCVNE GYAQLRHHLP 

       130        140        150        160        170        180 
EEYLEKRLSK VETLRAAIKY INYLQSLLYP DKAETKNNPG KVSSMIATTS HHADPMFRIV 

« Hide

References

[1]"Sgn1, a basic helix-loop-helix transcription factor delineates the salivary gland duct cell lineage in mice."
Yoshida S., Ohbo K., Takakura A., Takebayashi H., Okada T., Abe K., Nabeshima Y.
Dev. Biol. 240:517-530(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-54.
[2]"Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7."
Amid C., Bahr A., Mujica A., Sampson N., Bikar S.E., Winterpacht A., Zabel B., Hankeln T., Schmidt E.R.
Cytogenet. Cell Genet. 93:284-290(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Hash4, a novel human achaete-scute homologue found in fetal skin."
Jonsson M., Bjoerntorp Mark E., Brantsing C., Brandner J.M., Lindahl A., Asp J.
Genomics 84:859-866(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB046450 Genomic DNA. Translation: BAB83913.1.
AJ400877 Genomic DNA. Translation: CAB92288.1. Different initiation.
RefSeqNP_065697.1. NM_020646.1.
UniGeneHs.501852.

3D structure databases

ProteinModelPortalQ9NQ33.
SMRQ9NQ33. Positions 98-148.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121184. 6 interactions.
STRING9606.ENSP00000318846.

PTM databases

PhosphoSiteQ9NQ33.

Polymorphism databases

DMDM20454833.

Proteomic databases

PaxDbQ9NQ33.
PRIDEQ9NQ33.

Protocols and materials databases

DNASU56676.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325884; ENSP00000318846; ENSG00000176009.
ENST00000531618; ENSP00000435770; ENSG00000176009.
GeneID56676.
KEGGhsa:56676.
UCSCuc001mhd.1. human.

Organism-specific databases

CTD56676.
GeneCardsGC11M008959.
HGNCHGNC:740. ASCL3.
HPAHPA027032.
MIM609154. gene.
neXtProtNX_Q9NQ33.
PharmGKBPA25040.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG273711.
HOGENOMHOG000034089.
HOVERGENHBG050591.
InParanoidQ9NQ33.
KOK09067.
OMAPYPNYRR.
OrthoDBEOG7HHWTC.
PhylomeDBQ9NQ33.
TreeFamTF322889.

Gene expression databases

BgeeQ9NQ33.
CleanExHS_ASCL3.
GenevestigatorQ9NQ33.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERPTHR13935. PTHR13935. 1 hit.
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi56676.
NextBio62181.
PROQ9NQ33.
SOURCESearch...

Entry information

Entry nameASCL3_HUMAN
AccessionPrimary (citable) accession number: Q9NQ33
Secondary accession number(s): Q8WYQ6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: May 14, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM