P52954 (LBX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor LBX1

Alternative name(s):
Ladybird homeobox protein homolog 1

Gene names

Name:	LBX1
Synonyms:	LBX1H

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	281 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	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.
Subunit structure	Interacts with SKOR1 which acts as a transcriptional corepressor By similarity.
Subcellular location	Nucleus Probable.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Differentiation Myogenesis Neurogenesis Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.1. Source: ProtInc heart looping Inferred from electronic annotation. Source: Ensembl muscle organ development Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of cell proliferation Inferred from electronic annotation. Source: Ensembl negative regulation of neuron differentiation Inferred from electronic annotation. Source: Ensembl neuron fate determination Inferred from electronic annotation. Source: Ensembl regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification Inferred from electronic annotation. Source: Ensembl spinal cord motor neuron differentiation Inferred from electronic annotation. Source: Ensembl transcription, DNA-templated Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell transcription factor complex Inferred from electronic annotation. Source: Ensembl
Molecular_function	sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Ensembl transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 281	281	Transcription factor LBX1		PRO_0000049166
Regions
	DNA binding	125 – 184	60	Homeobox
	Compositional bias	220 – 226	7	Poly-Gly
	Compositional bias	270 – 281	12	Asp/Glu-rich (highly acidic)
Experimental info
	Sequence conflict	33 – 72	40	LTPFS…QGGLP → YAVQHRGHPQQAVRAEKLLA AWGGAPAGRRGQARAGRLA in CAA62342. Ref.1
	Sequence conflict	81	1	Q → K in CAA62342. Ref.1
	Sequence conflict	183	1	D → E in CAA62342. Ref.1
	Sequence conflict	194	1	A → P in CAA62342. Ref.1
	Sequence conflict	247 – 248	2	AG → RC in CAA62342. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P52954 [UniParc]. Last modified November 14, 2006. Version 2. Checksum: 8467F2B515681CCA	FASTA	281	30,221
	10 20 30 40 50 60 MTSKEDGKAA PGEERRRSPL DHLPPPANSN KPLTPFSIED ILNKPSVRRS YSLCGAAHLL 70 80 90 100 110 120 AAADKHAQGG LPLAGRALLS QTSPLCALEE LASKTFKGLE VSVLQAAEGR DGMTIFGQRQ 130 140 150 160 170 180 TPKKRRKSRT AFTNHQIYEL EKRFLYQKYL SPADRDQIAQ QLGLTNAQVI TWFQNRRAKL 190 200 210 220 230 240 KRDLEEMKAD VESAKKLGPS GQMDIVALAE LEQNSEATAG GGGGCGRAKS RPGSPVLPPG 250 260 270 280 APKAPGAGAL QLSPASPLTD QPASSQDCSE DEEDEEIDVD D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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(1995) [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(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
RefSeq	NP_006553.2. NM_006562.4. XP_005269500.1. XM_005269443.2.
UniGene	Hs.37128.
3D structure databases
ProteinModelPortal	P52954.
SMR	P52954. Positions 124-182.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	115903. 1 interaction.
STRING	9606.ENSP00000359212.
Polymorphism databases
DMDM	117949813.
Proteomic databases
PaxDb	P52954.
PRIDE	P52954.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370193; ENSP00000359212; ENSG00000138136.
GeneID	10660.
KEGG	hsa:10660.
UCSC	uc001ksx.3. human.
Organism-specific databases
CTD	10660.
GeneCards	GC10M102976.
HGNC	HGNC:16960. LBX1.
HPA	HPA002086.
MIM	604255. gene.
neXtProt	NX_P52954.
PharmGKB	PA142671561.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240187.
HOGENOM	HOG000007247.
HOVERGEN	HBG006244.
InParanoid	P52954.
KO	K09353.
OMA	NSEATAG.
OrthoDB	EOG7X3QRB.
PhylomeDB	P52954.
TreeFam	TF325047.
Gene expression databases
ArrayExpress	P52954.
Bgee	P52954.
CleanEx	HS_LBX1.
Genevestigator	P52954.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeobox_dom. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. SSF46689. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GeneWiki	LBX1.
GenomeRNAi	10660.
NextBio	40539.
PRO	P52954.
SOURCE	Search...

Entry information

Entry name

LBX1_HUMAN

Accession

Primary (citable) accession number: P52954
Secondary accession number(s): B9EGA2, Q05BB2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	November 14, 2006
Last modified:	April 16, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.