HEN1_HUMAN
ID HEN1_HUMAN Reviewed; 133 AA.
AC Q02575;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-1993, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Helix-loop-helix protein 1;
DE Short=HEN-1;
DE AltName: Full=Class A basic helix-loop-helix protein 35;
DE Short=bHLHa35;
DE AltName: Full=Nescient helix loop helix 1;
DE Short=NSCL-1;
GN Name=NHLH1; Synonyms=BHLHA35, HEN1;
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].
RC TISSUE=Brain;
RX PubMed=1528853; DOI=10.1073/pnas.89.18.8492;
RA Brown L., Espinosa R. III, le Beau M.M., Siciliano M.J., Baer R.;
RT "HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are
RT coexpressed in a human neuroblastoma.";
RL Proc. Natl. Acad. Sci. U.S.A. 89:8492-8496(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RC TISSUE=Brain;
RX PubMed=1328219; DOI=10.1016/s0021-9258(19)36798-5;
RA Lipkowitz S., Gobel V., Varterasian M.L., Nakahara K., Tchorz K.,
RA Kirsch I.R.;
RT "A comparative structural characterization of the human NSCL-1 and NSCL-2
RT genes. Two basic helix-loop-helix genes expressed in the developing nervous
RT system.";
RL J. Biol. Chem. 267:21065-21071(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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: May serve as DNA-binding protein and may be involved in the
CC control of cell-type determination, possibly within the developing
CC nervous system.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein.
CC -!- INTERACTION:
CC Q02575; Q99832: CCT7; NbExp=3; IntAct=EBI-3930567, EBI-357046;
CC Q02575; Q6IPU0: CENPP; NbExp=3; IntAct=EBI-3930567, EBI-10250303;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
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DR EMBL; M97507; AAA58634.1; -; Genomic_DNA.
DR EMBL; BC013789; AAH13789.1; -; mRNA.
DR CCDS; CCDS1204.1; -.
DR PIR; B46167; A45075.
DR RefSeq; NP_005589.1; NM_005598.3.
DR AlphaFoldDB; Q02575; -.
DR SMR; Q02575; -.
DR BioGRID; 110872; 85.
DR IntAct; Q02575; 79.
DR STRING; 9606.ENSP00000302189; -.
DR iPTMnet; Q02575; -.
DR PhosphoSitePlus; Q02575; -.
DR BioMuta; NHLH1; -.
DR DMDM; 399885; -.
DR PaxDb; Q02575; -.
DR PRIDE; Q02575; -.
DR Antibodypedia; 34277; 154 antibodies from 24 providers.
DR DNASU; 4807; -.
DR Ensembl; ENST00000302101.6; ENSP00000302189.5; ENSG00000171786.6.
DR GeneID; 4807; -.
DR KEGG; hsa:4807; -.
DR MANE-Select; ENST00000302101.6; ENSP00000302189.5; NM_005598.4; NP_005589.1.
DR CTD; 4807; -.
DR DisGeNET; 4807; -.
DR GeneCards; NHLH1; -.
DR HGNC; HGNC:7817; NHLH1.
DR HPA; ENSG00000171786; Tissue enhanced (brain).
DR MIM; 162360; gene.
DR neXtProt; NX_Q02575; -.
DR OpenTargets; ENSG00000171786; -.
DR PharmGKB; PA31619; -.
DR VEuPathDB; HostDB:ENSG00000171786; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000162622; -.
DR HOGENOM; CLU_148882_1_0_1; -.
DR InParanoid; Q02575; -.
DR OMA; MLNSDQT; -.
DR PhylomeDB; Q02575; -.
DR PathwayCommons; Q02575; -.
DR SignaLink; Q02575; -.
DR SIGNOR; Q02575; -.
DR BioGRID-ORCS; 4807; 13 hits in 1097 CRISPR screens.
DR GeneWiki; NHLH1; -.
DR GenomeRNAi; 4807; -.
DR Pharos; Q02575; Tbio.
DR PRO; PR:Q02575; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q02575; protein.
DR Bgee; ENSG00000171786; Expressed in ganglionic eminence and 91 other tissues.
DR ExpressionAtlas; Q02575; baseline and differential.
DR Genevisible; Q02575; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007417; P:central nervous system development; TAS:ProtInc.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
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 Developmental protein; Differentiation; DNA-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..133
FT /note="Helix-loop-helix protein 1"
FT /id="PRO_0000127197"
FT DOMAIN 75..127
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..79
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..22
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 50..64
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 133 AA; 14618 MW; FE90B574BE16D2C6 CRC64;
MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP GEPGRKDLQH
LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK LLPTLPPDKK LSKIEILRLA
ICYISYLNHV LDV
