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Protein

LIM/homeobox protein Lhx1

Gene

LHX1

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

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi180 – 23960HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
LIM/homeobox protein Lhx1
Short name:
LIM homeobox protein 1
Alternative name(s):
Homeobox protein Lim-1
Short name:
hLim-1
Gene namesi
Name:LHX1
Synonyms:LIM-1, LIM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 17, Unplaced

Organism-specific databases

HGNCiHGNC:6593. LHX1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

Orphaneti261265. 17q12 microdeletion syndrome.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBiPA30364.

Polymorphism and mutation databases

BioMutaiLHX1.
DMDMi60416412.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 406406LIM/homeobox protein Lhx1PRO_0000075769Add
BLAST

Proteomic databases

PaxDbiP48742.
PRIDEiP48742.

PTM databases

PhosphoSiteiP48742.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiP48742.
CleanExiHS_LHX1.
ExpressionAtlasiP48742. baseline and differential.
GenevestigatoriP48742.

Organism-specific databases

HPAiCAB002770.

Interactioni

Subunit structurei

Interacts with LDB1 via the tandem LIM domains.By similarity

Protein-protein interaction databases

BioGridi110163. 5 interactions.
STRINGi9606.ENSP00000254457.

Structurei

3D structure databases

ProteinModelPortaliP48742.
SMRiP48742. Positions 4-118, 186-236.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 5451LIM zinc-binding 1PROSITE-ProRule annotationAdd
BLAST
Domaini63 – 11755LIM zinc-binding 2PROSITE-ProRule annotationAdd
BLAST

Domaini

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).By similarity

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 2 LIM zinc-binding domains.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, LIM domain, Repeat

Phylogenomic databases

eggNOGiNOG257130.
GeneTreeiENSGT00760000118921.
HOGENOMiHOG000231630.
HOVERGENiHBG006263.
InParanoidiP48742.
KOiK09372.
OMAiSVTACSD.
OrthoDBiEOG7PP56T.
PhylomeDBiP48742.
TreeFamiTF315442.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
2.10.110.10. 2 hits.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00412. LIM. 2 hits.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
SM00132. LIM. 2 hits.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P48742-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVHCAGCKRP ILDRFLLNVL DRAWHVKCVQ CCECKCNLTE KCFSREGKLY
60 70 80 90 100
CKNDFFRCFG TKCAGCAQGI SPSDLVRRAR SKVFHLNCFT CMMCNKQLST
110 120 130 140 150
GEELYIIDEN KFVCKEDYLS NSSVAKENSL HSATTGSDPS LSPDSQDPSQ
160 170 180 190 200
DDAKDSESAN VSDKEAGSNE NDDQNLGAKR RGPRTTIKAK QLETLKAAFA
210 220 230 240 250
ATPKPTRHIR EQLAQETGLN MRVIQVWFQN RRSKERRMKQ LSALGARRHA
260 270 280 290 300
FFRSPRRMRP LVDRLEPGEL IPNGPFSFYG DYQSEYYGPG GNYDFFPQGP
310 320 330 340 350
PSSQAQTPVD LPFVPSSGPS GTPLGGLEHP LPGHHPSSEA QRFTDILAHP
360 370 380 390 400
PGDSPSPEPS LPGPLHSMSA EVFGPSPPFS SLSVNGGASY GNHLSHPPEM

NEAAVW
Length:406
Mass (Da):44,808
Last modified:March 1, 2005 - v2
Checksum:i06C5A417A943C15D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti67 – 671A → R in AAA21644 (PubMed:9212161).Curated
Sequence conflicti184 – 1841R → G in AAA21644 (PubMed:9212161).Curated
Sequence conflicti245 – 2484GARR → AG in AAA21644 (PubMed:9212161).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11316.1.
PIRiG01507.
RefSeqiNP_005559.2. NM_005568.4.
UniGeneiHs.443727.

Genome annotation databases

EnsembliENST00000614239; ENSP00000477829; ENSG00000273706.
GeneIDi3975.
KEGGihsa:3975.
UCSCiuc002hnh.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11316.1.
PIRiG01507.
RefSeqiNP_005559.2. NM_005568.4.
UniGeneiHs.443727.

3D structure databases

ProteinModelPortaliP48742.
SMRiP48742. Positions 4-118, 186-236.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110163. 5 interactions.
STRINGi9606.ENSP00000254457.

PTM databases

PhosphoSiteiP48742.

Polymorphism and mutation databases

BioMutaiLHX1.
DMDMi60416412.

Proteomic databases

PaxDbiP48742.
PRIDEiP48742.

Protocols and materials databases

DNASUi3975.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000614239; ENSP00000477829; ENSG00000273706.
GeneIDi3975.
KEGGihsa:3975.
UCSCiuc002hnh.2. human.

Organism-specific databases

CTDi3975.
GeneCardsiGC17P035294.
HGNCiHGNC:6593. LHX1.
HPAiCAB002770.
MIMi601999. gene.
neXtProtiNX_P48742.
Orphaneti261265. 17q12 microdeletion syndrome.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBiPA30364.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG257130.
GeneTreeiENSGT00760000118921.
HOGENOMiHOG000231630.
HOVERGENiHBG006263.
InParanoidiP48742.
KOiK09372.
OMAiSVTACSD.
OrthoDBiEOG7PP56T.
PhylomeDBiP48742.
TreeFamiTF315442.

Miscellaneous databases

GeneWikiiLHX1.
GenomeRNAii3975.
NextBioi15580.
PROiP48742.
SOURCEiSearch...

Gene expression databases

BgeeiP48742.
CleanExiHS_LHX1.
ExpressionAtlasiP48742. baseline and differential.
GenevestigatoriP48742.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
2.10.110.10. 2 hits.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001781. Znf_LIM.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00412. LIM. 2 hits.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
SM00132. LIM. 2 hits.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiLHX1_HUMAN
AccessioniPrimary (citable) accession number: P48742
Secondary accession number(s): Q3MIW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: March 1, 2005
Last modified: May 27, 2015
This is version 135 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 17
    Human chromosome 17: 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.