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Protein

Achaete-scute homolog 3

Gene

ASCL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:740. ASCL3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25040.

Polymorphism and mutation databases

BioMutaiASCL3.
DMDMi20454833.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 180180Achaete-scute homolog 3PRO_0000127133Add
BLAST

Proteomic databases

PaxDbiQ9NQ33.
PRIDEiQ9NQ33.

PTM databases

PhosphoSiteiQ9NQ33.

Expressioni

Tissue specificityi

Widely expressed in fetal and adult tissues.1 Publication

Gene expression databases

BgeeiQ9NQ33.
CleanExiHS_ASCL3.
GenevisibleiQ9NQ33. HS.

Organism-specific databases

HPAiHPA027032.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi121184. 6 interactions.
STRINGi9606.ENSP00000318846.

Structurei

3D structure databases

ProteinModelPortaliQ9NQ33.
SMRiQ9NQ33. Positions 98-148.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini92 – 14453bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG273711.
HOGENOMiHOG000034089.
HOVERGENiHBG050591.
InParanoidiQ9NQ33.
KOiK09067.
OMAiYGPAFIR.
OrthoDBiEOG7HHWTC.
PhylomeDBiQ9NQ33.
TreeFamiTF322889.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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 CAB92288.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541R → L.1 Publication
Corresponds to variant rs4909951 [ dbSNP | Ensembl ].
VAR_055948

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.
UCSCiuc001mhd.1. human.

Keywords - Coding sequence diversityi

Polymorphism

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. Positions 98-148.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121184. 6 interactions.
STRINGi9606.ENSP00000318846.

PTM databases

PhosphoSiteiQ9NQ33.

Polymorphism and mutation databases

BioMutaiASCL3.
DMDMi20454833.

Proteomic databases

PaxDbiQ9NQ33.
PRIDEiQ9NQ33.

Protocols and materials databases

DNASUi56676.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000531618; ENSP00000435770; ENSG00000176009.
GeneIDi56676.
KEGGihsa:56676.
UCSCiuc001mhd.1. human.

Organism-specific databases

CTDi56676.
GeneCardsiGC11M008959.
HGNCiHGNC:740. ASCL3.
HPAiHPA027032.
MIMi609154. gene.
neXtProtiNX_Q9NQ33.
PharmGKBiPA25040.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG273711.
HOGENOMiHOG000034089.
HOVERGENiHBG050591.
InParanoidiQ9NQ33.
KOiK09067.
OMAiYGPAFIR.
OrthoDBiEOG7HHWTC.
PhylomeDBiQ9NQ33.
TreeFamiTF322889.

Miscellaneous databases

GenomeRNAii56676.
NextBioi62181.
PROiQ9NQ33.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NQ33.
CleanExiHS_ASCL3.
GenevisibleiQ9NQ33. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR015660. ASH.
IPR011598. bHLH_dom.
[Graphical view]
PANTHERiPTHR13935. PTHR13935. 1 hit.
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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.

Entry informationi

Entry nameiASCL3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ33
Secondary accession number(s): Q8WYQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: July 22, 2015
This is version 117 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 11
    Human chromosome 11: 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

External Data

Dasty 3

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 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.