ASCL3_HUMAN
ID ASCL3_HUMAN Reviewed; 180 AA.
AC Q9NQ33; Q8WYQ6;
DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 02-MAY-2002, sequence version 2.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Achaete-scute homolog 3;
DE Short=ASH-3;
DE Short=hASH3;
DE AltName: Full=Class A basic helix-loop-helix protein 42;
DE Short=bHLHa42;
DE AltName: Full=bHLH transcriptional regulator Sgn-1;
GN Name=ASCL3; Synonyms=BHLHA42, HASH3, SGN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-54.
RX PubMed=11784080; DOI=10.1006/dbio.2001.0473;
RA Yoshida S., Ohbo K., Takakura A., Takebayashi H., Okada T., Abe K.,
RA Nabeshima Y.;
RT "Sgn1, a basic helix-loop-helix transcription factor delineates the
RT salivary gland duct cell lineage in mice.";
RL Dev. Biol. 240:517-530(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11528127; DOI=10.1159/000056999;
RA Amid C., Bahr A., Mujica A., Sampson N., Bikar S.E., Winterpacht A.,
RA Zabel B., Hankeln T., Schmidt E.R.;
RT "Comparative genomic sequencing reveals a strikingly similar architecture
RT of a conserved syntenic region on human chromosome 11p15.3 (including gene
RT ST5) and mouse chromosome 7.";
RL Cytogenet. Cell Genet. 93:284-290(2001).
RN [3]
RP TISSUE SPECIFICITY.
RX PubMed=15475265; DOI=10.1016/j.ygeno.2004.07.004;
RA Jonsson M., Bjoerntorp Mark E., Brantsing C., Brandner J.M., Lindahl A.,
RA Asp J.;
RT "Hash4, a novel human achaete-scute homologue found in fetal skin.";
RL Genomics 84:859-866(2004).
CC -!- FUNCTION: Transcriptional repressor. Inhibits myogenesis (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NQ33; Q9Y5R4: HEMK1; NbExp=3; IntAct=EBI-12108222, EBI-10329202;
CC Q9NQ33; P41134: ID1; NbExp=3; IntAct=EBI-12108222, EBI-1215527;
CC Q9NQ33; Q99081-3: TCF12; NbExp=3; IntAct=EBI-12108222, EBI-11952764;
CC Q9NQ33; P15923-3: TCF3; NbExp=3; IntAct=EBI-12108222, EBI-12000326;
CC Q9NQ33; P15884-3: TCF4; NbExp=3; IntAct=EBI-12108222, EBI-13636688;
CC Q9NQ33; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-12108222, EBI-2559305;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.
CC {ECO:0000269|PubMed:15475265}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB92288.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB046450; BAB83913.1; -; Genomic_DNA.
DR EMBL; AJ400877; CAB92288.1; ALT_INIT; Genomic_DNA.
DR RefSeq; NP_065697.1; NM_020646.2.
DR AlphaFoldDB; Q9NQ33; -.
DR SMR; Q9NQ33; -.
DR BioGRID; 121184; 37.
DR IntAct; Q9NQ33; 6.
DR STRING; 9606.ENSP00000435770; -.
DR iPTMnet; Q9NQ33; -.
DR PhosphoSitePlus; Q9NQ33; -.
DR BioMuta; ASCL3; -.
DR DMDM; 20454833; -.
DR PaxDb; Q9NQ33; -.
DR PeptideAtlas; Q9NQ33; -.
DR PRIDE; Q9NQ33; -.
DR Antibodypedia; 24178; 90 antibodies from 24 providers.
DR DNASU; 56676; -.
DR Ensembl; ENST00000531618.2; ENSP00000435770.1; ENSG00000176009.4.
DR GeneID; 56676; -.
DR KEGG; hsa:56676; -.
DR UCSC; uc057yvn.1; human.
DR CTD; 56676; -.
DR DisGeNET; 56676; -.
DR GeneCards; ASCL3; -.
DR HGNC; HGNC:740; ASCL3.
DR HPA; ENSG00000176009; Tissue enriched (salivary).
DR MIM; 609154; gene.
DR neXtProt; NX_Q9NQ33; -.
DR PharmGKB; PA25040; -.
DR VEuPathDB; HostDB:ENSG00000176009; -.
DR eggNOG; KOG4029; Eukaryota.
DR HOGENOM; CLU_128274_0_0_1; -.
DR InParanoid; Q9NQ33; -.
DR OMA; DPIFRIV; -.
DR OrthoDB; 1545499at2759; -.
DR PhylomeDB; Q9NQ33; -.
DR TreeFam; TF322889; -.
DR PathwayCommons; Q9NQ33; -.
DR SignaLink; Q9NQ33; -.
DR BioGRID-ORCS; 56676; 11 hits in 1093 CRISPR screens.
DR GenomeRNAi; 56676; -.
DR Pharos; Q9NQ33; Tbio.
DR PRO; PR:Q9NQ33; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NQ33; protein.
DR Bgee; ENSG00000176009; Expressed in olfactory segment of nasal mucosa and 38 other tissues.
DR Genevisible; Q9NQ33; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR015660; MASH1/Ascl1a-like.
DR PANTHER; PTHR13935; PTHR13935; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW DNA-binding; Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..180
FT /note="Achaete-scute homolog 3"
FT /id="PRO_0000127133"
FT DOMAIN 92..144
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT VARIANT 54
FT /note="R -> L (in dbSNP:rs4909951)"
FT /evidence="ECO:0000269|PubMed:11784080"
FT /id="VAR_055948"
SQ SEQUENCE 180 AA; 20797 MW; C9B90C885DE94F81 CRC64;
MDNRGNSSLP DKLPIFPDSA RLPLTRSFYL EPMVTFHVHP EAPVSSPYSE ELPRLPFPSD
SLILGNYSEP CPFSFPMPYP NYRGCEYSYG PAFTRKRNER ERQRVKCVNE GYAQLRHHLP
EEYLEKRLSK VETLRAAIKY INYLQSLLYP DKAETKNNPG KVSSMIATTS HHADPMFRIV
