LHX1_HUMAN
ID LHX1_HUMAN Reviewed; 406 AA.
AC P48742; Q3MIW0;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2005, sequence version 2.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=LIM/homeobox protein Lhx1;
DE Short=LIM homeobox protein 1;
DE AltName: Full=Homeobox protein Lim-1;
DE Short=hLim-1;
GN Name=LHX1; Synonyms=LIM-1, LIM1;
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=Fetal brain;
RX PubMed=9212161; DOI=10.1089/dna.1997.16.671;
RA Dong W.F., Heng H.H.Q., Lowsky R., Xu Y., Decoteau J.F., Shi X.-M.,
RA Tsui L.-C., Minden M.D.;
RT "Cloning, expression, and chromosomal localization to 11p12-13 of a human
RT LIM/homeobox gene, hLim-1.";
RL DNA Cell Biol. 16:671-678(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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: Potential transcription factor. May play a role in early
CC mesoderm formation and later in lateral mesoderm differentiation and
CC neurogenesis. {ECO:0000269|PubMed:9212161}.
CC -!- SUBUNIT: Interacts with LDB1 via the tandem LIM domains. {ECO:0000250}.
CC -!- INTERACTION:
CC P48742; Q53TS8: C2CD6; NbExp=5; IntAct=EBI-11990598, EBI-739879;
CC P48742; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-11990598, EBI-2556193;
CC P48742; Q86U70-2: LDB1; NbExp=3; IntAct=EBI-11990598, EBI-11979761;
CC P48742; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-11990598, EBI-748391;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in the brain, thymus, and tonsils.
CC Expressed in samples from patients with chronic myeloid leukemia (CML)
CC and in 58% of acute myeloid leukemia (AML) cell lines.
CC {ECO:0000269|PubMed:9212161}.
CC -!- DOMAIN: The LIM domains exert a negative regulatory function and
CC disruption of the LIM domains produces an activated form. In addition,
CC two activation domains and a negative regulatory domain exist C-
CC terminally to the homeobox (By similarity). {ECO:0000250}.
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DR EMBL; U14755; AAA21644.1; -; mRNA.
DR EMBL; AC023315; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025882; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC111936; AAI11937.1; -; mRNA.
DR EMBL; BC101674; AAI01675.1; -; mRNA.
DR CCDS; CCDS11316.1; -.
DR PIR; G01507; G01507.
DR RefSeq; NP_005559.2; NM_005568.4.
DR AlphaFoldDB; P48742; -.
DR SMR; P48742; -.
DR BioGRID; 110163; 98.
DR IntAct; P48742; 93.
DR STRING; 9606.ENSP00000477829; -.
DR iPTMnet; P48742; -.
DR PhosphoSitePlus; P48742; -.
DR BioMuta; LHX1; -.
DR DMDM; 60416412; -.
DR MassIVE; P48742; -.
DR PaxDb; P48742; -.
DR PeptideAtlas; P48742; -.
DR PRIDE; P48742; -.
DR ProteomicsDB; 55941; -.
DR Antibodypedia; 72534; 565 antibodies from 34 providers.
DR DNASU; 3975; -.
DR Ensembl; ENST00000614239.1; ENSP00000477829.1; ENSG00000273706.5.
DR Ensembl; ENST00000620305.2; ENSP00000484449.1; ENSG00000274577.2.
DR GeneID; 3975; -.
DR KEGG; hsa:3975; -.
DR MANE-Select; ENST00000614239.1; ENSP00000477829.1; NM_005568.5; NP_005559.2.
DR UCSC; uc032feb.2; human.
DR CTD; 3975; -.
DR DisGeNET; 3975; -.
DR GeneCards; LHX1; -.
DR HGNC; HGNC:6593; LHX1.
DR HPA; ENSG00000273706; Tissue enriched (kidney).
DR MalaCards; LHX1; -.
DR MIM; 601999; gene.
DR neXtProt; NX_P48742; -.
DR OpenTargets; ENSG00000273706; -.
DR Orphanet; 261265; 17q12 microdeletion syndrome.
DR PharmGKB; PA30364; -.
DR VEuPathDB; HostDB:ENSG00000273706; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000160834; -.
DR HOGENOM; CLU_027802_3_1_1; -.
DR InParanoid; P48742; -.
DR OMA; QSEYYAP; -.
DR OrthoDB; 1070389at2759; -.
DR PhylomeDB; P48742; -.
DR TreeFam; TF315442; -.
DR PathwayCommons; P48742; -.
DR SignaLink; P48742; -.
DR SIGNOR; P48742; -.
DR BioGRID-ORCS; 3975; 17 hits in 1090 CRISPR screens.
DR ChiTaRS; LHX1; human.
DR GeneWiki; LHX1; -.
DR GenomeRNAi; 3975; -.
DR Pharos; P48742; Tbio.
DR PRO; PR:P48742; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P48742; protein.
DR Bgee; ENSG00000273706; Expressed in cerebellum and 42 other tissues.
DR ExpressionAtlas; P48742; baseline and differential.
DR Genevisible; P48742; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; ISS:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0000987; F:cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0048646; P:anatomical structure formation involved in morphogenesis; ISS:UniProtKB.
DR GO; GO:0009653; P:anatomical structure morphogenesis; ISS:UniProtKB.
DR GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc.
DR GO; GO:0009948; P:anterior/posterior axis specification; ISS:UniProtKB.
DR GO; GO:0009952; P:anterior/posterior pattern specification; ISS:UniProtKB.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEA:Ensembl.
DR GO; GO:0007267; P:cell-cell signaling; ISS:UniProtKB.
DR GO; GO:0044344; P:cellular response to fibroblast growth factor stimulus; IEA:Ensembl.
DR GO; GO:0021702; P:cerebellar Purkinje cell differentiation; ISS:UniProtKB.
DR GO; GO:0021937; P:cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation; ISS:UniProtKB.
DR GO; GO:0021549; P:cerebellum development; ISS:UniProtKB.
DR GO; GO:0060067; P:cervix development; ISS:UniProtKB.
DR GO; GO:0072049; P:comma-shaped body morphogenesis; ISS:UniProtKB.
DR GO; GO:0097379; P:dorsal spinal cord interneuron posterior axon guidance; ISS:UniProtKB.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:UniProtKB.
DR GO; GO:0001705; P:ectoderm formation; ISS:UniProtKB.
DR GO; GO:0009880; P:embryonic pattern specification; ISS:UniProtKB.
DR GO; GO:0060059; P:embryonic retina morphogenesis in camera-type eye; ISS:UniProtKB.
DR GO; GO:0048703; P:embryonic viscerocranium morphogenesis; ISS:UniProtKB.
DR GO; GO:0001706; P:endoderm formation; ISS:UniProtKB.
DR GO; GO:0060429; P:epithelium development; ISS:UniProtKB.
DR GO; GO:0021871; P:forebrain regionalization; ISS:UniProtKB.
DR GO; GO:0001702; P:gastrulation with mouth forming second; ISS:UniProtKB.
DR GO; GO:0060322; P:head development; ISS:UniProtKB.
DR GO; GO:0001822; P:kidney development; ISS:UniProtKB.
DR GO; GO:0097477; P:lateral motor column neuron migration; ISS:UniProtKB.
DR GO; GO:0048382; P:mesendoderm development; IEA:Ensembl.
DR GO; GO:0072177; P:mesonephric duct development; IEA:Ensembl.
DR GO; GO:0072278; P:metanephric comma-shaped body morphogenesis; IEA:Ensembl.
DR GO; GO:0072224; P:metanephric glomerulus development; IEA:Ensembl.
DR GO; GO:0035502; P:metanephric part of ureteric bud development; IEA:Ensembl.
DR GO; GO:0072283; P:metanephric renal vesicle morphogenesis; IEA:Ensembl.
DR GO; GO:0072284; P:metanephric S-shaped body morphogenesis; IEA:Ensembl.
DR GO; GO:0008045; P:motor neuron axon guidance; ISS:UniProtKB.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0035849; P:nephric duct elongation; IEA:Ensembl.
DR GO; GO:0072178; P:nephric duct morphogenesis; ISS:UniProtKB.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0060066; P:oviduct development; ISS:UniProtKB.
DR GO; GO:0035846; P:oviduct epithelium development; ISS:UniProtKB.
DR GO; GO:0061205; P:paramesonephric duct development; ISS:UniProtKB.
DR GO; GO:0007389; P:pattern specification process; ISS:UniProtKB.
DR GO; GO:2000744; P:positive regulation of anterior head development; ISS:UniProtKB.
DR GO; GO:0090190; P:positive regulation of branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
DR GO; GO:0040019; P:positive regulation of embryonic development; ISS:UniProtKB.
DR GO; GO:2000543; P:positive regulation of gastrulation; ISS:UniProtKB.
DR GO; GO:2000768; P:positive regulation of nephron tubule epithelial cell differentiation; ISS:UniProtKB.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0009791; P:post-embryonic development; ISS:UniProtKB.
DR GO; GO:0090009; P:primitive streak formation; ISS:UniProtKB.
DR GO; GO:0048793; P:pronephros development; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0072077; P:renal vesicle morphogenesis; ISS:UniProtKB.
DR GO; GO:0010842; P:retina layer formation; ISS:UniProtKB.
DR GO; GO:0072050; P:S-shaped body morphogenesis; ISS:UniProtKB.
DR GO; GO:0032525; P:somite rostral/caudal axis specification; IEA:Ensembl.
DR GO; GO:0021527; P:spinal cord association neuron differentiation; ISS:UniProtKB.
DR GO; GO:0021537; P:telencephalon development; IEA:Ensembl.
DR GO; GO:0006366; P:transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0072197; P:ureter morphogenesis; IEA:Ensembl.
DR GO; GO:0001657; P:ureteric bud development; ISS:UniProtKB.
DR GO; GO:0001655; P:urogenital system development; ISS:UniProtKB.
DR GO; GO:0035847; P:uterine epithelium development; ISS:UniProtKB.
DR GO; GO:0060065; P:uterus development; ISS:UniProtKB.
DR GO; GO:0060068; P:vagina development; ISS:UniProtKB.
DR GO; GO:0021517; P:ventral spinal cord development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR001781; Znf_LIM.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF00412; LIM; 2.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00132; LIM; 2.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS00478; LIM_DOMAIN_1; 2.
DR PROSITE; PS50023; LIM_DOMAIN_2; 2.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; DNA-binding; Homeobox; LIM domain;
KW Metal-binding; Neurogenesis; Nucleus; Phosphoprotein; Reference proteome;
KW Repeat; Transcription; Transcription regulation; Zinc.
FT CHAIN 1..406
FT /note="LIM/homeobox protein Lhx1"
FT /id="PRO_0000075769"
FT DOMAIN 4..54
FT /note="LIM zinc-binding 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT DOMAIN 63..117
FT /note="LIM zinc-binding 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT DNA_BIND 180..239
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 128..187
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 293..374
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 128..147
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 148..179
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 297..313
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 162
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P63007"
FT CONFLICT 67
FT /note="A -> R (in Ref. 1; AAA21644)"
FT /evidence="ECO:0000305"
FT CONFLICT 184
FT /note="R -> G (in Ref. 1; AAA21644)"
FT /evidence="ECO:0000305"
FT CONFLICT 245..248
FT /note="GARR -> AG (in Ref. 1; AAA21644)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 406 AA; 44808 MW; 06C5A417A943C15D CRC64;
MVHCAGCKRP ILDRFLLNVL DRAWHVKCVQ CCECKCNLTE KCFSREGKLY CKNDFFRCFG
TKCAGCAQGI SPSDLVRRAR SKVFHLNCFT CMMCNKQLST GEELYIIDEN KFVCKEDYLS
NSSVAKENSL HSATTGSDPS LSPDSQDPSQ DDAKDSESAN VSDKEAGSNE NDDQNLGAKR
RGPRTTIKAK QLETLKAAFA ATPKPTRHIR EQLAQETGLN MRVIQVWFQN RRSKERRMKQ
LSALGARRHA FFRSPRRMRP LVDRLEPGEL IPNGPFSFYG DYQSEYYGPG GNYDFFPQGP
PSSQAQTPVD LPFVPSSGPS GTPLGGLEHP LPGHHPSSEA QRFTDILAHP PGDSPSPEPS
LPGPLHSMSA EVFGPSPPFS SLSVNGGASY GNHLSHPPEM NEAAVW
