ASCL4_HUMAN
ID ASCL4_HUMAN Reviewed; 172 AA.
AC Q6XD76; Q7RTS2;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Achaete-scute homolog 4;
DE Short=ASH-4;
DE Short=hASH4;
DE AltName: Full=Achaete-scute-like protein 4;
DE AltName: Full=Class A basic helix-loop-helix protein 44;
DE Short=bHLHa44;
GN Name=ASCL4; Synonyms=BHLHA44, HASH4;
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 [MRNA], FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Skin;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION.
RX PubMed=14516699; DOI=10.1016/s0925-4773(03)00130-8;
RA McLellan A.S., Langlands K., Kealey T.;
RT "Exhaustive identification of human class II basic helix-loop-helix
RT proteins by virtual library screening.";
RL Mech. Dev. 119:S285-S291(2002).
CC -!- FUNCTION: Could be a transcriptional regulator involved in skin
CC development. {ECO:0000269|PubMed:15475265}.
CC -!- INTERACTION:
CC Q6XD76; P68133: ACTA1; NbExp=3; IntAct=EBI-10254793, EBI-367510;
CC Q6XD76; Q92870-2: APBB2; NbExp=3; IntAct=EBI-10254793, EBI-21535880;
CC Q6XD76; P13637: ATP1A3; NbExp=3; IntAct=EBI-10254793, EBI-948169;
CC Q6XD76; P55212: CASP6; NbExp=3; IntAct=EBI-10254793, EBI-718729;
CC Q6XD76; P06307: CCK; NbExp=3; IntAct=EBI-10254793, EBI-6624398;
CC Q6XD76; P28329-3: CHAT; NbExp=3; IntAct=EBI-10254793, EBI-25837549;
CC Q6XD76; P99999: CYCS; NbExp=3; IntAct=EBI-10254793, EBI-446479;
CC Q6XD76; G5E9A7: DMWD; NbExp=3; IntAct=EBI-10254793, EBI-10976677;
CC Q6XD76; O75190: DNAJB6; NbExp=3; IntAct=EBI-10254793, EBI-1053164;
CC Q6XD76; Q01658: DR1; NbExp=3; IntAct=EBI-10254793, EBI-750300;
CC Q6XD76; P03372: ESR1; NbExp=3; IntAct=EBI-10254793, EBI-78473;
CC Q6XD76; P22607: FGFR3; NbExp=3; IntAct=EBI-10254793, EBI-348399;
CC Q6XD76; Q13643: FHL3; NbExp=3; IntAct=EBI-10254793, EBI-741101;
CC Q6XD76; P01100: FOS; NbExp=3; IntAct=EBI-10254793, EBI-852851;
CC Q6XD76; P62993: GRB2; NbExp=3; IntAct=EBI-10254793, EBI-401755;
CC Q6XD76; P42261: GRIA1; NbExp=3; IntAct=EBI-10254793, EBI-6980805;
CC Q6XD76; P28799: GRN; NbExp=3; IntAct=EBI-10254793, EBI-747754;
CC Q6XD76; Q00403: GTF2B; NbExp=3; IntAct=EBI-10254793, EBI-389564;
CC Q6XD76; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-10254793, EBI-1054873;
CC Q6XD76; P04792: HSPB1; NbExp=3; IntAct=EBI-10254793, EBI-352682;
CC Q6XD76; P42858: HTT; NbExp=6; IntAct=EBI-10254793, EBI-466029;
CC Q6XD76; Q02363: ID2; NbExp=3; IntAct=EBI-10254793, EBI-713450;
CC Q6XD76; O60333-2: KIF1B; NbExp=3; IntAct=EBI-10254793, EBI-10975473;
CC Q6XD76; P13473-2: LAMP2; NbExp=3; IntAct=EBI-10254793, EBI-21591415;
CC Q6XD76; O95983-2: MBD3; NbExp=3; IntAct=EBI-10254793, EBI-11978579;
CC Q6XD76; Q96CV9: OPTN; NbExp=3; IntAct=EBI-10254793, EBI-748974;
CC Q6XD76; Q17RL8: PDZD4; NbExp=3; IntAct=EBI-10254793, EBI-10239064;
CC Q6XD76; P16284: PECAM1; NbExp=3; IntAct=EBI-10254793, EBI-716404;
CC Q6XD76; Q7Z412: PEX26; NbExp=3; IntAct=EBI-10254793, EBI-752057;
CC Q6XD76; Q13393: PLD1; NbExp=3; IntAct=EBI-10254793, EBI-2827556;
CC Q6XD76; P60891: PRPS1; NbExp=3; IntAct=EBI-10254793, EBI-749195;
CC Q6XD76; P62491: RAB11A; NbExp=3; IntAct=EBI-10254793, EBI-745098;
CC Q6XD76; P62826: RAN; NbExp=3; IntAct=EBI-10254793, EBI-286642;
CC Q6XD76; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-10254793, EBI-396669;
CC Q6XD76; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-10254793, EBI-5235340;
CC Q6XD76; P12931: SRC; NbExp=3; IntAct=EBI-10254793, EBI-621482;
CC Q6XD76; Q99081: TCF12; NbExp=3; IntAct=EBI-10254793, EBI-722877;
CC Q6XD76; Q99081-3: TCF12; NbExp=3; IntAct=EBI-10254793, EBI-11952764;
CC Q6XD76; P15884: TCF4; NbExp=3; IntAct=EBI-10254793, EBI-533224;
CC Q6XD76; P15884-3: TCF4; NbExp=3; IntAct=EBI-10254793, EBI-13636688;
CC Q6XD76; Q86WV8: TSC1; NbExp=3; IntAct=EBI-10254793, EBI-12806590;
CC Q6XD76; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-10254793, EBI-741480;
CC Q6XD76; P08670: VIM; NbExp=3; IntAct=EBI-10254793, EBI-353844;
CC Q6XD76; P04275-2: VWF; NbExp=3; IntAct=EBI-10254793, EBI-25896548;
CC Q6XD76; O76024: WFS1; NbExp=3; IntAct=EBI-10254793, EBI-720609;
CC Q6XD76; Q9Y649; NbExp=3; IntAct=EBI-10254793, EBI-25900580;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- TISSUE SPECIFICITY: Expressed in skin. 7-fold higher expression in
CC fetal skin than in adult skin. Weak expression also detected in fetal
CC lung, aorta and brain, and in adult stomach, kidney, ovary and breast.
CC {ECO:0000269|PubMed:15475265}.
CC -!- SEQUENCE CAUTION:
CC Sequence=DAA01055.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY238895; AAP69222.1; -; mRNA.
DR EMBL; AC007622; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC128211; AAI28212.1; -; mRNA.
DR EMBL; BC128212; AAI28213.1; -; mRNA.
DR EMBL; BK000275; DAA01055.1; ALT_INIT; mRNA.
DR CCDS; CCDS31894.2; -.
DR RefSeq; NP_982260.2; NM_203436.2.
DR AlphaFoldDB; Q6XD76; -.
DR SMR; Q6XD76; -.
DR BioGRID; 125737; 17.
DR IntAct; Q6XD76; 47.
DR MINT; Q6XD76; -.
DR STRING; 9606.ENSP00000345420; -.
DR BioMuta; ASCL4; -.
DR DMDM; 74749505; -.
DR PaxDb; Q6XD76; -.
DR PeptideAtlas; Q6XD76; -.
DR PRIDE; Q6XD76; -.
DR ProteomicsDB; 67795; -.
DR Antibodypedia; 30729; 34 antibodies from 17 providers.
DR DNASU; 121549; -.
DR Ensembl; ENST00000342331.5; ENSP00000345420.5; ENSG00000187855.6.
DR GeneID; 121549; -.
DR KEGG; hsa:121549; -.
DR MANE-Select; ENST00000342331.5; ENSP00000345420.5; NM_203436.3; NP_982260.3.
DR UCSC; uc001tmr.3; human.
DR CTD; 121549; -.
DR GeneCards; ASCL4; -.
DR HGNC; HGNC:24311; ASCL4.
DR HPA; ENSG00000187855; Not detected.
DR MIM; 609155; gene.
DR neXtProt; NX_Q6XD76; -.
DR OpenTargets; ENSG00000187855; -.
DR PharmGKB; PA134869300; -.
DR VEuPathDB; HostDB:ENSG00000187855; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000162902; -.
DR HOGENOM; CLU_095919_1_0_1; -.
DR InParanoid; Q6XD76; -.
DR OMA; RLDAACW; -.
DR OrthoDB; 1545499at2759; -.
DR PhylomeDB; Q6XD76; -.
DR TreeFam; TF322889; -.
DR PathwayCommons; Q6XD76; -.
DR SignaLink; Q6XD76; -.
DR BioGRID-ORCS; 121549; 15 hits in 1088 CRISPR screens.
DR GenomeRNAi; 121549; -.
DR Pharos; Q6XD76; Tdark.
DR PRO; PR:Q6XD76; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6XD76; protein.
DR Bgee; ENSG00000187855; Expressed in tonsil and 8 other tissues.
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:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
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:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0043588; P:skin development; NAS: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; Transcription;
KW Transcription regulation.
FT CHAIN 1..172
FT /note="Achaete-scute homolog 4"
FT /id="PRO_0000317297"
FT DOMAIN 72..124
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 144..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 172 AA; 19253 MW; 94686681C4E64FB1 CRC64;
METRKPAERL ALPYSLRTAP LGVPGTLPGL PRRDPLRVAL RLDAACWEWA RSGCARGWQY
LPVPLDSAFE PAFLRKRNER ERQRVRCVNE GYARLRDHLP RELADKRLSK VETLRAAIDY
IKHLQELLER QAWGLEGAAG AVPQRRAECN SDGESKASSA PSPSSEPEEG GS
