HELT_HUMAN
ID HELT_HUMAN Reviewed; 242 AA.
AC A6NFD8; B2RTS5; B7ZMI7; B7ZMI8;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2014, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Hairy and enhancer of split-related protein HELT;
DE AltName: Full=HES/HEY-like transcription factor;
GN Name=HELT;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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).
CC -!- FUNCTION: Transcriptional repressor which binds preferentially to the
CC canonical E box sequence 5'-CACGCG-3'. {ECO:0000250}.
CC -!- SUBUNIT: Self-associates. Interacts with HES5 and HEY2 (By similarity).
CC {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=A6NFD8-3; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NFD8-4; Sequence=VSP_056737;
CC -!- SIMILARITY: Belongs to the HEY family. {ECO:0000305}.
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DR EMBL; AC093824; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471056; EAX04657.1; -; Genomic_DNA.
DR EMBL; BC140795; AAI40796.1; -; mRNA.
DR EMBL; BC144567; AAI44568.1; -; mRNA.
DR EMBL; BC144569; AAI44570.1; -; mRNA.
DR CCDS; CCDS75214.1; -. [A6NFD8-3]
DR CCDS; CCDS75215.1; -. [A6NFD8-4]
DR RefSeq; NP_001287710.1; NM_001300781.1. [A6NFD8-3]
DR RefSeq; NP_001287711.1; NM_001300782.1. [A6NFD8-4]
DR AlphaFoldDB; A6NFD8; -.
DR SMR; A6NFD8; -.
DR BioGRID; 134034; 14.
DR STRING; 9606.ENSP00000426033; -.
DR PhosphoSitePlus; A6NFD8; -.
DR BioMuta; HELT; -.
DR PRIDE; A6NFD8; -.
DR Antibodypedia; 28910; 99 antibodies from 19 providers.
DR DNASU; 391723; -.
DR Ensembl; ENST00000505610.5; ENSP00000422140.1; ENSG00000187821.9. [A6NFD8-4]
DR Ensembl; ENST00000515777.6; ENSP00000426033.1; ENSG00000187821.9. [A6NFD8-3]
DR GeneID; 391723; -.
DR KEGG; hsa:391723; -.
DR MANE-Select; ENST00000515777.6; ENSP00000426033.1; NM_001300781.2; NP_001287710.1.
DR UCSC; uc003ixa.3; human. [A6NFD8-3]
DR CTD; 391723; -.
DR DisGeNET; 391723; -.
DR GeneCards; HELT; -.
DR HGNC; HGNC:33783; HELT.
DR HPA; ENSG00000187821; Not detected.
DR MIM; 617546; gene.
DR neXtProt; NX_A6NFD8; -.
DR OpenTargets; ENSG00000187821; -.
DR PharmGKB; PA162390819; -.
DR VEuPathDB; HostDB:ENSG00000187821; -.
DR eggNOG; KOG4304; Eukaryota.
DR GeneTree; ENSGT00940000160388; -.
DR HOGENOM; CLU_084227_0_0_1; -.
DR InParanoid; A6NFD8; -.
DR OMA; FAWPHGA; -.
DR OrthoDB; 1054305at2759; -.
DR TreeFam; TF323617; -.
DR PathwayCommons; A6NFD8; -.
DR BioGRID-ORCS; 391723; 8 hits in 715 CRISPR screens.
DR GenomeRNAi; 391723; -.
DR Pharos; A6NFD8; Tbio.
DR PRO; PR:A6NFD8; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; A6NFD8; protein.
DR Bgee; ENSG00000187821; Expressed in skin of leg and 19 other tissues.
DR ExpressionAtlas; A6NFD8; baseline and differential.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
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:0042802; F:identical protein binding; IEA:Ensembl.
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:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0007417; P:central nervous system development; IEA:Ensembl.
DR GO; GO:0021858; P:GABAergic neuron differentiation in basal ganglia; IEA:Ensembl.
DR GO; GO:0010259; P:multicellular organism aging; IEA:Ensembl.
DR GO; GO:0035264; P:multicellular organism growth; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0009791; P:post-embryonic development; 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:0001967; P:suckling behavior; IEA:Ensembl.
DR GO; GO:0006366; P:transcription by RNA polymerase II; 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 SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
DR PROSITE; PS51054; ORANGE; 1.
PE 2: Evidence at transcript level;
KW Acetylation; Alternative splicing; DNA-binding; Nucleus;
KW Reference proteome; Repressor; Transcription; Transcription regulation.
FT CHAIN 1..242
FT /note="Hairy and enhancer of split-related protein HELT"
FT /id="PRO_0000349378"
FT DOMAIN 10..65
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT DOMAIN 87..122
FT /note="Orange"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00380"
FT MOD_RES 48
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q7TS99"
FT VAR_SEQ 77
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056737"
FT VARIANT 62
FT /note="L -> V (in dbSNP:rs1078461)"
FT /id="VAR_049540"
SQ SEQUENCE 242 AA; 26913 MW; A5BC17B4AFE5002A CRC64;
MSDKLKERKR TPVSHKVIEK RRRDRINRCL NELGKTVPMA LAKQSSGKLE KAEILEMTVQ
YLRALHSADF PRGREKAELL AEFANYFHYG YHECMKNLVH YLTTVERMET KDTKYARILA
FLQSKARLGA EPAFPPLGSL PEPDFSYQLH PAGPEFAGHS PGEAAVFPQG SGAGPFPWPP
GAARSPALPY LPSAPVPLAS PAQQHSPFLT PVQGLDRHYL NLIGHAHPNA LNLHTPQHPP
VL
