LYL1_HUMAN
ID LYL1_HUMAN Reviewed; 280 AA.
AC P12980; O76102;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
DT 14-APR-2009, sequence version 3.
DT 03-AUG-2022, entry version 196.
DE RecName: Full=Protein lyl-1;
DE AltName: Full=Class A basic helix-loop-helix protein 18;
DE Short=bHLHa18;
DE AltName: Full=Lymphoblastic leukemia-derived sequence 1;
GN Name=LYL1; Synonyms=BHLHA18;
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 / MRNA].
RX PubMed=2752424; DOI=10.1016/0092-8674(89)90404-2;
RA Mellentin J.D., Smith S.D., Cleary M.L.;
RT "lyl-1, a novel gene altered by chromosomal translocation in T cell
RT leukemia, codes for a protein with a helix-loop-helix DNA binding motif.";
RL Cell 58:77-83(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lymph;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-260 AND SER-276, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- DISEASE: Note=A chromosomal aberration involving LYL1 may be a cause of
CC a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation
CC t(7;19)(q35;p13) with TCRB.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA88084.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAA88085.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAA92488.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/LYL1ID51ch19p13.html";
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DR EMBL; M22637; AAA88084.1; ALT_INIT; mRNA.
DR EMBL; M22637; AAA88085.1; ALT_INIT; mRNA.
DR EMBL; M22638; AAA92488.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC005546; AAC33149.1; -; Genomic_DNA.
DR EMBL; AC007787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC002796; AAH02796.2; -; mRNA.
DR CCDS; CCDS12292.1; -.
DR PIR; A30988; A30988.
DR RefSeq; NP_005574.2; NM_005583.4.
DR AlphaFoldDB; P12980; -.
DR SMR; P12980; -.
DR BioGRID; 110244; 11.
DR DIP; DIP-40885N; -.
DR IntAct; P12980; 2.
DR STRING; 9606.ENSP00000264824; -.
DR iPTMnet; P12980; -.
DR PhosphoSitePlus; P12980; -.
DR BioMuta; LYL1; -.
DR DMDM; 226694149; -.
DR CPTAC; CPTAC-1208; -.
DR CPTAC; CPTAC-1209; -.
DR EPD; P12980; -.
DR MassIVE; P12980; -.
DR MaxQB; P12980; -.
DR PaxDb; P12980; -.
DR PeptideAtlas; P12980; -.
DR PRIDE; P12980; -.
DR ProteomicsDB; 52889; -.
DR Antibodypedia; 26353; 168 antibodies from 26 providers.
DR DNASU; 4066; -.
DR Ensembl; ENST00000264824.5; ENSP00000264824.3; ENSG00000104903.5.
DR GeneID; 4066; -.
DR KEGG; hsa:4066; -.
DR MANE-Select; ENST00000264824.5; ENSP00000264824.3; NM_005583.5; NP_005574.2.
DR UCSC; uc002mwi.4; human.
DR CTD; 4066; -.
DR DisGeNET; 4066; -.
DR GeneCards; LYL1; -.
DR HGNC; HGNC:6734; LYL1.
DR HPA; ENSG00000104903; Tissue enhanced (bone marrow, lymphoid tissue).
DR MIM; 151440; gene+phenotype.
DR neXtProt; NX_P12980; -.
DR OpenTargets; ENSG00000104903; -.
DR PharmGKB; PA30497; -.
DR VEuPathDB; HostDB:ENSG00000104903; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000162404; -.
DR HOGENOM; CLU_047980_1_0_1; -.
DR InParanoid; P12980; -.
DR OMA; HRVPDDG; -.
DR OrthoDB; 1453623at2759; -.
DR PhylomeDB; P12980; -.
DR TreeFam; TF315153; -.
DR PathwayCommons; P12980; -.
DR Reactome; R-HSA-9031628; NGF-stimulated transcription.
DR SignaLink; P12980; -.
DR SIGNOR; P12980; -.
DR BioGRID-ORCS; 4066; 34 hits in 1100 CRISPR screens.
DR ChiTaRS; LYL1; human.
DR GeneWiki; LYL1; -.
DR GenomeRNAi; 4066; -.
DR Pharos; P12980; Tbio.
DR PRO; PR:P12980; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P12980; protein.
DR Bgee; ENSG00000104903; Expressed in blood and 148 other tissues.
DR ExpressionAtlas; P12980; baseline and differential.
DR Genevisible; P12980; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
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:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0030183; P:B cell differentiation; ISS:UniProtKB.
DR GO; GO:0001955; P:blood vessel maturation; IMP:UniProtKB.
DR GO; GO:0060216; P:definitive hemopoiesis; ISS:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR040238; TAL-like.
DR PANTHER; PTHR13864; PTHR13864; 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 Chromosomal rearrangement; DNA-binding; Nucleus; Phosphoprotein;
KW Proto-oncogene; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..280
FT /note="Protein lyl-1"
FT /id="PRO_0000127262"
FT DOMAIN 150..202
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 214..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 24..39
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 225..243
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 260
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 276
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CONFLICT 235
FT /note="A -> P (in Ref. 1; AAA88084/AAA88085/AAA92488)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 280 AA; 29938 MW; 4A9D795FF74C59F8 CRC64;
MCPPQAQAEV GPTMTEKAEM VCAPSPAPAP PPKPASPGPP QVEEVGHRGG SSPPRLPPGV
PVISLGHSRP PGVAMPTTEL GTLRPPLLQL STLGTAPPTL ALHYHPHPFL NSVYIGPAGP
FSIFPSSRLK RRPSHCELDL AEGHQPQKVA RRVFTNSRER WRQQNVNGAF AELRKLLPTH
PPDRKLSKNE VLRLAMKYIG FLVRLLRDQA AALAAGPTPP GPRKRPVHRV PDDGARRGSG
RRAEAAARSQ PAPPADPDGS PGGAARPIKM EQTALSPEVR
