HEYL_BOVIN
ID HEYL_BOVIN Reviewed; 328 AA.
AC Q2NL18; Q58CQ8;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2007, sequence version 3.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Hairy/enhancer-of-split related with YRPW motif-like protein;
GN Name=HEYL;
OS Bos taurus (Bovine).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae;
OC Bovinae; Bos.
OX NCBI_TaxID=9913;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=16305752; DOI=10.1186/1471-2164-6-166;
RA Harhay G.P., Sonstegard T.S., Keele J.W., Heaton M.P., Clawson M.L.,
RA Snelling W.M., Wiedmann R.T., Van Tassell C.P., Smith T.P.L.;
RT "Characterization of 954 bovine full-CDS cDNA sequences.";
RL BMC Genomics 6:166-166(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=Crossbred X Angus; TISSUE=Liver;
RG NIH - Mammalian Gene Collection (MGC) project;
RL Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Downstream effector of Notch signaling which may be required
CC for cardiovascular development. Transcriptional repressor which binds
CC preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses
CC transcription by the cardiac transcriptional activators GATA4 and
CC GATA6. {ECO:0000250}.
CC -!- SUBUNIT: Self-associates. Interacts with GATA4, GATA6, HES1, HEY1 and
CC HEY2. Interacts with HDAC1, NCOR1 and SIN3A. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00380,
CC ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2NL18-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2NL18-2; Sequence=VSP_025054;
CC -!- SIMILARITY: Belongs to the HEY family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI11206.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAX46736.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; BT021889; AAX46736.1; ALT_FRAME; mRNA.
DR EMBL; BC111205; AAI11206.2; ALT_INIT; mRNA.
DR RefSeq; XP_005204852.1; XM_005204795.3. [Q2NL18-2]
DR RefSeq; XP_005204853.1; XM_005204796.1. [Q2NL18-2]
DR AlphaFoldDB; Q2NL18; -.
DR SMR; Q2NL18; -.
DR STRING; 9913.ENSBTAP00000011453; -.
DR PaxDb; Q2NL18; -.
DR PRIDE; Q2NL18; -.
DR Ensembl; ENSBTAT00000011453; ENSBTAP00000011453; ENSBTAG00000008688. [Q2NL18-1]
DR Ensembl; ENSBTAT00000078888; ENSBTAP00000064108; ENSBTAG00000008688. [Q2NL18-2]
DR GeneID; 538609; -.
DR CTD; 26508; -.
DR VEuPathDB; HostDB:ENSBTAG00000008688; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00940000161351; -.
DR HOGENOM; CLU_048294_1_1_1; -.
DR InParanoid; Q2NL18; -.
DR OMA; FLPCPAW; -.
DR Proteomes; UP000009136; Chromosome 3.
DR Bgee; ENSBTAG00000008688; Expressed in bone marrow and 98 other tissues.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0050683; F:AF-1 domain binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0003181; P:atrioventricular valve morphogenesis; IEA:Ensembl.
DR GO; GO:0003208; P:cardiac ventricle morphogenesis; IEA:Ensembl.
DR GO; GO:0071773; P:cellular response to BMP stimulus; IEA:Ensembl.
DR GO; GO:0003198; P:epithelial to mesenchymal transition involved in endocardial cushion formation; IEA:Ensembl.
DR GO; GO:0032835; P:glomerulus development; IEA:Ensembl.
DR GO; GO:0014031; P:mesenchymal cell development; IEA:Ensembl.
DR GO; GO:0060766; P:negative regulation of androgen receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; IEA:Ensembl.
DR GO; GO:0010629; P:negative regulation of gene expression; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IEA:UniProtKB-KW.
DR GO; GO:0003151; P:outflow tract morphogenesis; IEA:Ensembl.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:0072014; P:proximal tubule development; IEA:Ensembl.
DR GO; GO:0003184; P:pulmonary valve morphogenesis; IEA:Ensembl.
DR GO; GO:0050767; P:regulation of neurogenesis; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR GO; GO:0060412; P:ventricular septum morphogenesis; IEA:Ensembl.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR003650; Orange_dom.
DR Pfam; PF07527; Hairy_orange; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SMART; SM00511; ORANGE; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
DR PROSITE; PS51054; ORANGE; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; DNA-binding;
KW Notch signaling pathway; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..328
FT /note="Hairy/enhancer-of-split related with YRPW motif-like
FT protein"
FT /id="PRO_0000286428"
FT DOMAIN 43..98
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT DOMAIN 116..153
FT /note="Orange"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00380"
FT REGION 1..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 42..111
FT /note="Transcriptional repression and interaction with
FT NCOR1 and SIN3A"
FT /evidence="ECO:0000250"
FT REGION 236..272
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..20
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..28
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16305752"
FT /id="VSP_025054"
SQ SEQUENCE 328 AA; 35192 MW; 2B6733F55100D8D6 CRC64;
MKRPREPSGS DSESDGPIDV GREGELSQMA RPLSTPSPSQ MQARKKRRGI IEKRRRDRIN
SSLSELRRLV PTAFEKQGSS KLEKAEVLQM TVDHLKMLHA TGGTGFFDAR ALAVDFRSIG
FRECLTEVIR YLGVLEGPSS RADPVRIRLL SHLNSYAAEM EPSPTPPGPL AFPAWPWSFF
HSCPGLSAPS NQLAILGRVP GPMLPNASSL AYPIPGLRAA PLRRAAGTIL PARRNLLPSR
GASSTRRARP LERPAAPLPA APSGRATRGS HMAPLLRSPS PVSPGMVGSP AYMAVPAPRP
SSPGLAGRPA GAMLCRSWVS EITEVGAF