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Protein

Transcription factor LBX1

Gene

LBX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi125 – 18460HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. heart looping Source: Ensembl
  3. muscle organ development Source: UniProtKB-KW
  4. negative regulation of cell proliferation Source: Ensembl
  5. negative regulation of neuron differentiation Source: Ensembl
  6. neuron fate determination Source: Ensembl
  7. regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification Source: Ensembl
  8. spinal cord motor neuron differentiation Source: Ensembl
  9. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Myogenesis, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor LBX1
Alternative name(s):
Ladybird homeobox protein homolog 1
Gene namesi
Name:LBX1
Synonyms:LBX1H
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:16960. LBX1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671561.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 281281Transcription factor LBX1PRO_0000049166Add
BLAST

Proteomic databases

PaxDbiP52954.
PRIDEiP52954.

Expressioni

Gene expression databases

BgeeiP52954.
CleanExiHS_LBX1.
ExpressionAtlasiP52954. baseline.
GenevestigatoriP52954.

Organism-specific databases

HPAiHPA002086.

Interactioni

Subunit structurei

Interacts with SKOR1 which acts as a transcriptional corepressor.By similarity

Protein-protein interaction databases

BioGridi115903. 1 interaction.
STRINGi9606.ENSP00000359212.

Structurei

3D structure databases

ProteinModelPortaliP52954.
SMRiP52954. Positions 124-182.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi220 – 2267Poly-Gly
Compositional biasi270 – 28112Asp/Glu-rich (highly acidic)Add
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG240187.
GeneTreeiENSGT00780000121835.
HOGENOMiHOG000007247.
HOVERGENiHBG006244.
InParanoidiP52954.
KOiK09353.
OMAiNSEATAG.
OrthoDBiEOG7X3QRB.
PhylomeDBiP52954.
TreeFamiTF325047.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P52954-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTSKEDGKAA PGEERRRSPL DHLPPPANSN KPLTPFSIED ILNKPSVRRS
60 70 80 90 100
YSLCGAAHLL AAADKHAQGG LPLAGRALLS QTSPLCALEE LASKTFKGLE
110 120 130 140 150
VSVLQAAEGR DGMTIFGQRQ TPKKRRKSRT AFTNHQIYEL EKRFLYQKYL
160 170 180 190 200
SPADRDQIAQ QLGLTNAQVI TWFQNRRAKL KRDLEEMKAD VESAKKLGPS
210 220 230 240 250
GQMDIVALAE LEQNSEATAG GGGGCGRAKS RPGSPVLPPG APKAPGAGAL
260 270 280
QLSPASPLTD QPASSQDCSE DEEDEEIDVD D
Length:281
Mass (Da):30,221
Last modified:November 13, 2006 - v2
Checksum:i8467F2B515681CCA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 7240LTPFS…QGGLP → YAVQHRGHPQQAVRAEKLLA AWGGAPAGRRGQARAGRLA in CAA62342 (PubMed:8645601).CuratedAdd
BLAST
Sequence conflicti81 – 811Q → K in CAA62342 (PubMed:8645601).Curated
Sequence conflicti183 – 1831D → E in CAA62342 (PubMed:8645601).Curated
Sequence conflicti194 – 1941A → P in CAA62342 (PubMed:8645601).Curated
Sequence conflicti247 – 2482AG → RC in CAA62342 (PubMed:8645601).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X90828 mRNA. Translation: CAA62342.1.
AL135794 Genomic DNA. Translation: CAH72508.2.
CH471066 Genomic DNA. Translation: EAW49777.1.
BC069156 mRNA. Translation: AAH69156.1.
BC136321 mRNA. Translation: AAI36322.1.
CCDSiCCDS31270.1.
RefSeqiNP_006553.2. NM_006562.4.
XP_005269500.1. XM_005269443.2.
UniGeneiHs.37128.

Genome annotation databases

EnsembliENST00000370193; ENSP00000359212; ENSG00000138136.
GeneIDi10660.
KEGGihsa:10660.
UCSCiuc001ksx.3. human.

Polymorphism databases

DMDMi117949813.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X90828 mRNA. Translation: CAA62342.1.
AL135794 Genomic DNA. Translation: CAH72508.2.
CH471066 Genomic DNA. Translation: EAW49777.1.
BC069156 mRNA. Translation: AAH69156.1.
BC136321 mRNA. Translation: AAI36322.1.
CCDSiCCDS31270.1.
RefSeqiNP_006553.2. NM_006562.4.
XP_005269500.1. XM_005269443.2.
UniGeneiHs.37128.

3D structure databases

ProteinModelPortaliP52954.
SMRiP52954. Positions 124-182.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115903. 1 interaction.
STRINGi9606.ENSP00000359212.

Polymorphism databases

DMDMi117949813.

Proteomic databases

PaxDbiP52954.
PRIDEiP52954.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370193; ENSP00000359212; ENSG00000138136.
GeneIDi10660.
KEGGihsa:10660.
UCSCiuc001ksx.3. human.

Organism-specific databases

CTDi10660.
GeneCardsiGC10M102976.
HGNCiHGNC:16960. LBX1.
HPAiHPA002086.
MIMi604255. gene.
neXtProtiNX_P52954.
PharmGKBiPA142671561.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG240187.
GeneTreeiENSGT00780000121835.
HOGENOMiHOG000007247.
HOVERGENiHBG006244.
InParanoidiP52954.
KOiK09353.
OMAiNSEATAG.
OrthoDBiEOG7X3QRB.
PhylomeDBiP52954.
TreeFamiTF325047.

Miscellaneous databases

GeneWikiiLBX1.
GenomeRNAii10660.
NextBioi40539.
PROiP52954.
SOURCEiSearch...

Gene expression databases

BgeeiP52954.
CleanExiHS_LBX1.
ExpressionAtlasiP52954. baseline.
GenevestigatoriP52954.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene family related to the Drosophila lady bird genes."
    Jagla K., Dolle P., Mattei M.-G., Jagla T., Schuhbaur B., Dretzen G., Bellard F., Bellard M.
    Mech. Dev. 53:345-356(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.

Entry informationi

Entry nameiLBX1_HUMAN
AccessioniPrimary (citable) accession number: P52954
Secondary accession number(s): B9EGA2, Q05BB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 30, 1996
Last sequence update: November 13, 2006
Last modified: February 3, 2015
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.