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P48742 (LHX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
LIM/homeobox protein Lhx1

Short name=LIM homeobox protein 1
Alternative name(s):
Homeobox protein Lim-1
Short name=hLim-1
Gene names
Name:LHX1
Synonyms:LIM-1, LIM1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length406 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis. Ref.1

Subunit structure

Interacts with LDB1 via the tandem LIM domains By similarity.

Subcellular location

Nucleus Probable.

Tissue specificity

Expressed in the brain, thymus, and tonsils. Expressed in samples from patients with chronic myeloid leukemia (CML) and in 58% of acute myeloid leukemia (AML) cell lines. Ref.1

Domain

The LIM domains exert a negative regulatory function and disruption of the LIM domains produces an activated form. In addition, two activation domains and a negative regulatory domain exist C-terminally to the homeobox By similarity.

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Contains 2 LIM zinc-binding domains.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   DomainHomeobox
LIM domain
Repeat
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processS-shaped body morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

anatomical structure formation involved in morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

anatomical structure morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

anterior/posterior axis specification

Inferred from sequence or structural similarity. Source: UniProtKB

anterior/posterior pattern specification

Inferred from sequence or structural similarity. Source: UniProtKB

branching involved in ureteric bud morphogenesis

Inferred from electronic annotation. Source: Ensembl

cell-cell signaling

Inferred from sequence or structural similarity. Source: UniProtKB

cellular response to fibroblast growth factor stimulus

Inferred from electronic annotation. Source: Ensembl

cerebellar Purkinje cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation

Inferred from sequence or structural similarity. Source: UniProtKB

cerebellum development

Inferred from sequence or structural similarity. Source: UniProtKB

cervix development

Inferred from sequence or structural similarity. Source: UniProtKB

comma-shaped body morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

dorsal/ventral pattern formation

Inferred from sequence or structural similarity. Source: UniProtKB

ectoderm formation

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic pattern specification

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic retina morphogenesis in camera-type eye

Inferred from sequence or structural similarity. Source: UniProtKB

embryonic viscerocranium morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

endoderm formation

Inferred from sequence or structural similarity. Source: UniProtKB

epithelium development

Inferred from sequence or structural similarity. Source: UniProtKB

forebrain regionalization

Inferred from sequence or structural similarity. Source: UniProtKB

gastrulation with mouth forming second

Inferred from sequence or structural similarity. Source: UniProtKB

head development

Inferred from sequence or structural similarity. Source: UniProtKB

horizontal cell localization

Inferred from electronic annotation. Source: Ensembl

kidney development

Inferred from sequence or structural similarity. Source: UniProtKB

lateral motor column neuron migration

Inferred from sequence or structural similarity. Source: UniProtKB

mesonephric duct development

Inferred from electronic annotation. Source: Ensembl

metanephric S-shaped body morphogenesis

Inferred from electronic annotation. Source: Ensembl

metanephric comma-shaped body morphogenesis

Inferred from electronic annotation. Source: Ensembl

metanephric glomerulus development

Inferred from electronic annotation. Source: Ensembl

metanephric part of ureteric bud development

Inferred from electronic annotation. Source: Ensembl

metanephric renal vesicle morphogenesis

Inferred from electronic annotation. Source: Ensembl

motor neuron axon guidance

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

nephric duct elongation

Inferred from electronic annotation. Source: Ensembl

nephric duct morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

nervous system development

Traceable author statement Ref.1. Source: ProtInc

organ morphogenesis

Traceable author statement PubMed 7700351. Source: ProtInc

oviduct development

Inferred from sequence or structural similarity. Source: UniProtKB

oviduct epithelium development

Inferred from sequence or structural similarity. Source: UniProtKB

paramesonephric duct development

Inferred from sequence or structural similarity. Source: UniProtKB

pattern specification process

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of anterior head development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of branching involved in ureteric bud morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of gastrulation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of nephron tubule epithelial cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

post-embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

primitive streak formation

Inferred from sequence or structural similarity. Source: UniProtKB

pronephros development

Inferred from electronic annotation. Source: Ensembl

regulation of gene expression

Inferred from sequence or structural similarity. Source: UniProtKB

renal vesicle morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

retina layer formation

Inferred from sequence or structural similarity. Source: UniProtKB

somite rostral/caudal axis specification

Inferred from electronic annotation. Source: Ensembl

spinal cord association neuron differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

telencephalon development

Inferred from electronic annotation. Source: Ensembl

transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

ureteric bud development

Inferred from sequence or structural similarity. Source: UniProtKB

urogenital system development

Inferred from sequence or structural similarity. Source: UniProtKB

uterine epithelium development

Inferred from sequence or structural similarity. Source: UniProtKB

uterus development

Inferred from sequence or structural similarity. Source: UniProtKB

vagina development

Inferred from sequence or structural similarity. Source: UniProtKB

ventral spinal cord development

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleus

Inferred from sequence or structural similarity. Source: UniProtKB

protein complex

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

transcription corepressor activity

Inferred from sequence or structural similarity. Source: UniProtKB

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 406406LIM/homeobox protein Lhx1
PRO_0000075769

Regions

Domain4 – 5451LIM zinc-binding 1
Domain63 – 11755LIM zinc-binding 2
DNA binding180 – 23960Homeobox

Experimental info

Sequence conflict671A → R in AAA21644. Ref.1
Sequence conflict1841R → G in AAA21644. Ref.1
Sequence conflict245 – 2484GARR → AG in AAA21644. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P48742 [UniParc].

Last modified March 1, 2005. Version 2.
Checksum: 06C5A417A943C15D

FASTA40644,808
        10         20         30         40         50         60 
MVHCAGCKRP ILDRFLLNVL DRAWHVKCVQ CCECKCNLTE KCFSREGKLY CKNDFFRCFG 

        70         80         90        100        110        120 
TKCAGCAQGI SPSDLVRRAR SKVFHLNCFT CMMCNKQLST GEELYIIDEN KFVCKEDYLS 

       130        140        150        160        170        180 
NSSVAKENSL HSATTGSDPS LSPDSQDPSQ DDAKDSESAN VSDKEAGSNE NDDQNLGAKR 

       190        200        210        220        230        240 
RGPRTTIKAK QLETLKAAFA ATPKPTRHIR EQLAQETGLN MRVIQVWFQN RRSKERRMKQ 

       250        260        270        280        290        300 
LSALGARRHA FFRSPRRMRP LVDRLEPGEL IPNGPFSFYG DYQSEYYGPG GNYDFFPQGP 

       310        320        330        340        350        360 
PSSQAQTPVD LPFVPSSGPS GTPLGGLEHP LPGHHPSSEA QRFTDILAHP PGDSPSPEPS 

       370        380        390        400 
LPGPLHSMSA EVFGPSPPFS SLSVNGGASY GNHLSHPPEM NEAAVW 

« Hide

References

« Hide 'large scale' references
[1]"Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/homeobox gene, hLim-1."
Dong W.F., Heng H.H.Q., Lowsky R., Xu Y., Decoteau J.F., Shi X.-M., Tsui L.-C., Minden M.D.
DNA Cell Biol. 16:671-678(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
Tissue: Fetal brain.
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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: Cerebellum.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U14755 mRNA. Translation: AAA21644.1.
AC023315 Genomic DNA. No translation available.
AC025882 Genomic DNA. No translation available.
BC111936 mRNA. Translation: AAI11937.1.
BC101674 mRNA. Translation: AAI01675.1.
CCDSCCDS11316.1.
PIRG01507.
RefSeqNP_005559.2. NM_005568.4.
UniGeneHs.443727.

3D structure databases

ProteinModelPortalP48742.
SMRP48742. Positions 4-118, 186-236.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110163. 3 interactions.
STRING9606.ENSP00000254457.

PTM databases

PhosphoSiteP48742.

Polymorphism databases

DMDM60416412.

Proteomic databases

PaxDbP48742.
PRIDEP48742.

Protocols and materials databases

DNASU3975.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000254457; ENSP00000254457; ENSG00000132130.
GeneID3975.
KEGGhsa:3975.
UCSCuc002hnh.2. human.

Organism-specific databases

CTD3975.
GeneCardsGC17P035294.
HGNCHGNC:6593. LHX1.
HPACAB002770.
MIM601999. gene.
neXtProtNX_P48742.
Orphanet261265. 17q12 microdeletion syndrome.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBPA30364.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG257130.
HOGENOMHOG000231630.
HOVERGENHBG006263.
InParanoidP48742.
KOK09372.
OMADIMSHHP.
OrthoDBEOG7PP56T.
PhylomeDBP48742.
TreeFamTF315442.

Gene expression databases

ArrayExpressP48742.
BgeeP48742.
CleanExHS_LHX1.
GenevestigatorP48742.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
2.10.110.10. 2 hits.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001781. Znf_LIM.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF00412. LIM. 2 hits.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
SM00132. LIM. 2 hits.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLHX1.
GenomeRNAi3975.
NextBio15580.
PROP48742.
SOURCESearch...

Entry information

Entry nameLHX1_HUMAN
AccessionPrimary (citable) accession number: P48742
Secondary accession number(s): Q3MIW0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: March 1, 2005
Last modified: July 9, 2014
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM