LBX1_HUMAN
ID LBX1_HUMAN Reviewed; 281 AA.
AC P52954; B9EGA2; Q05BB2;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 14-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Transcription factor LBX1;
DE AltName: Full=Ladybird homeobox protein homolog 1;
GN Name=LBX1; Synonyms=LBX1H;
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].
RX PubMed=8645601; DOI=10.1016/0925-4773(95)00450-5;
RA Jagla K., Dolle P., Mattei M.-G., Jagla T., Schuhbaur B., Dretzen G.,
RA Bellard F., Bellard M.;
RT "Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene family
RT related to the Drosophila lady bird genes.";
RL Mech. Dev. 53:345-356(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [5]
RP INVOLVEMENT IN CCHS3.
RX PubMed=30487221; DOI=10.1073/pnas.1813520115;
RA Hernandez-Miranda L.R., Ibrahim D.M., Ruffault P.L., Larrosa M.,
RA Balueva K., Mueller T., Weerd W., Stolte-Dijkstra I., Hostra R.M.W.,
RA Brunet J.F., Fortin G., Mundlos S., Birchmeier C.;
RT "Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and
RT causes congenital hypoventilation in humans and mice.";
RL Proc. Natl. Acad. Sci. U.S.A. 115:13021-13026(2018).
CC -!- FUNCTION: Transcription factor required for the development of
CC GABAergic interneurons in the dorsal horn of the spinal cord and
CC migration and further development of hypaxial muscle precursor cells
CC for limb muscles, diaphragm and hypoglossal cord. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with SKOR1 which acts as a transcriptional
CC corepressor. {ECO:0000250}.
CC -!- INTERACTION:
CC P52954; Q9NZN9: AIPL1; NbExp=3; IntAct=EBI-20141748, EBI-6557414;
CC P52954; P17661: DES; NbExp=3; IntAct=EBI-20141748, EBI-1055572;
CC P52954; O95967: EFEMP2; NbExp=3; IntAct=EBI-20141748, EBI-743414;
CC P52954; P63241: EIF5A; NbExp=3; IntAct=EBI-20141748, EBI-373150;
CC P52954; A6H8Z2: FAM221B; NbExp=3; IntAct=EBI-20141748, EBI-12006844;
CC P52954; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-20141748, EBI-10175124;
CC P52954; P46940: IQGAP1; NbExp=3; IntAct=EBI-20141748, EBI-297509;
CC P52954; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-20141748, EBI-2556193;
CC P52954; P33176: KIF5B; NbExp=3; IntAct=EBI-20141748, EBI-355878;
CC P52954; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-20141748, EBI-14069005;
CC P52954; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-20141748, EBI-10250562;
CC P52954; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-20141748, EBI-1044640;
CC P52954; Q8N8X9: MAB21L3; NbExp=3; IntAct=EBI-20141748, EBI-10268010;
CC P52954; O43189: PHF1; NbExp=3; IntAct=EBI-20141748, EBI-530034;
CC P52954; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-20141748, EBI-1567797;
CC P52954; Q2TAL8: QRICH1; NbExp=3; IntAct=EBI-20141748, EBI-2798044;
CC P52954; Q5QJ74: TBCEL; NbExp=3; IntAct=EBI-20141748, EBI-10244795;
CC P52954; Q8N6L7: TMEM252; NbExp=3; IntAct=EBI-20141748, EBI-8787626;
CC P52954; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-20141748, EBI-3918381;
CC P52954; P0CB47: UBTFL1; NbExp=3; IntAct=EBI-20141748, EBI-17208936;
CC P52954; Q9BYP7: WNK3; NbExp=3; IntAct=EBI-20141748, EBI-1182602;
CC P52954; Q6P088: ZNF483; NbExp=3; IntAct=EBI-20141748, EBI-10196963;
CC P52954; PRO_0000449631 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-20141748, EBI-25475920;
CC P52954; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-20141748, EBI-25492395;
CC P52954; P0DTF1; Xeno; NbExp=3; IntAct=EBI-20141748, EBI-26953451;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- DISEASE: Central hypoventilation syndrome, congenital, 3 (CCHS3)
CC [MIM:619483]: A form of congenital central hypoventilation syndrome, a
CC rare disorder characterized by abnormal control of respiration in the
CC absence of neuromuscular, lung or cardiac disease, or an identifiable
CC brainstem lesion. CCHS3 is an autosomal recessive, neonatal form
CC characterized by slow and shallow breathing due to a deficiency in
CC autonomic control of respiration. Affected individuals present with
CC respiratory insufficiency and absence of the hypercapnic reflex that
CC stimulates breathing. Additional features include gastrointestinal
CC problems, poor heat tolerance and paroxysmal hypertension.
CC {ECO:0000269|PubMed:30487221}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
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DR EMBL; X90828; CAA62342.1; -; mRNA.
DR EMBL; AL135794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471066; EAW49777.1; -; Genomic_DNA.
DR EMBL; BC069156; AAH69156.1; -; mRNA.
DR EMBL; BC136321; AAI36322.1; -; mRNA.
DR CCDS; CCDS31270.1; -.
DR RefSeq; NP_006553.2; NM_006562.4.
DR AlphaFoldDB; P52954; -.
DR SMR; P52954; -.
DR BioGRID; 115903; 27.
DR IntAct; P52954; 24.
DR STRING; 9606.ENSP00000359212; -.
DR iPTMnet; P52954; -.
DR PhosphoSitePlus; P52954; -.
DR BioMuta; LBX1; -.
DR DMDM; 117949813; -.
DR MassIVE; P52954; -.
DR PaxDb; P52954; -.
DR PeptideAtlas; P52954; -.
DR PRIDE; P52954; -.
DR ProteomicsDB; 56564; -.
DR Antibodypedia; 911; 174 antibodies from 27 providers.
DR CPTC; P52954; 3 antibodies.
DR DNASU; 10660; -.
DR Ensembl; ENST00000370193.4; ENSP00000359212.2; ENSG00000138136.7.
DR GeneID; 10660; -.
DR KEGG; hsa:10660; -.
DR MANE-Select; ENST00000370193.4; ENSP00000359212.2; NM_006562.5; NP_006553.2.
DR UCSC; uc001ksx.4; human.
DR CTD; 10660; -.
DR DisGeNET; 10660; -.
DR GeneCards; LBX1; -.
DR HGNC; HGNC:16960; LBX1.
DR HPA; ENSG00000138136; Tissue enriched (skeletal).
DR MIM; 604255; gene.
DR MIM; 619483; phenotype.
DR neXtProt; NX_P52954; -.
DR OpenTargets; ENSG00000138136; -.
DR PharmGKB; PA142671561; -.
DR VEuPathDB; HostDB:ENSG00000138136; -.
DR eggNOG; KOG0488; Eukaryota.
DR GeneTree; ENSGT00940000161756; -.
DR HOGENOM; CLU_086390_0_0_1; -.
DR InParanoid; P52954; -.
DR OMA; ADKHSPG; -.
DR OrthoDB; 1472248at2759; -.
DR PhylomeDB; P52954; -.
DR TreeFam; TF325047; -.
DR PathwayCommons; P52954; -.
DR SignaLink; P52954; -.
DR SIGNOR; P52954; -.
DR BioGRID-ORCS; 10660; 10 hits in 1093 CRISPR screens.
DR GeneWiki; LBX1; -.
DR GenomeRNAi; 10660; -.
DR Pharos; P52954; Tbio.
DR PRO; PR:P52954; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P52954; protein.
DR Bgee; ENSG00000138136; Expressed in gastrocnemius and 18 other tissues.
DR Genevisible; P52954; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:1990837; F:sequence-specific double-stranded DNA binding; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0008283; P:cell population proliferation; IEA:Ensembl.
DR GO; GO:1905962; P:glutamatergic neuron differentiation; IEA:Ensembl.
DR GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR GO; GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0120007; P:negative regulation of glutamatergic neuron differentiation; IEA:Ensembl.
DR GO; GO:0048664; P:neuron fate determination; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021522; P:spinal cord motor neuron differentiation; 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; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00031; HTHREPRESSR.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; DNA-binding; Homeobox; Myogenesis;
KW Neurogenesis; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..281
FT /note="Transcription factor LBX1"
FT /id="PRO_0000049166"
FT DNA_BIND 125..184
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 214..281
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..21
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 266..281
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 33..72
FT /note="LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP -> YAVQHRGH
FT PQQAVRAEKLLAAWGGAPAGRRGQARAGRLA (in Ref. 1; CAA62342)"
FT /evidence="ECO:0000305"
FT CONFLICT 81
FT /note="Q -> K (in Ref. 1; CAA62342)"
FT /evidence="ECO:0000305"
FT CONFLICT 183
FT /note="D -> E (in Ref. 1; CAA62342)"
FT /evidence="ECO:0000305"
FT CONFLICT 194
FT /note="A -> P (in Ref. 1; CAA62342)"
FT /evidence="ECO:0000305"
FT CONFLICT 247..248
FT /note="AG -> RC (in Ref. 1; CAA62342)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 281 AA; 30221 MW; 8467F2B515681CCA CRC64;
MTSKEDGKAA PGEERRRSPL DHLPPPANSN KPLTPFSIED ILNKPSVRRS YSLCGAAHLL
AAADKHAQGG LPLAGRALLS QTSPLCALEE LASKTFKGLE VSVLQAAEGR DGMTIFGQRQ
TPKKRRKSRT AFTNHQIYEL EKRFLYQKYL SPADRDQIAQ QLGLTNAQVI TWFQNRRAKL
KRDLEEMKAD VESAKKLGPS GQMDIVALAE LEQNSEATAG GGGGCGRAKS RPGSPVLPPG
APKAPGAGAL QLSPASPLTD QPASSQDCSE DEEDEEIDVD D
