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Protein

LIM/homeobox protein Lhx1

Gene

LHX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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)DescriptionActionsGraphical viewLength
DNA bindingi180 – 239HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiP48742

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000273706.4
HGNCiHGNC:6593 LHX1
MIMi601999 gene
neXtProtiNX_P48742

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi3975
MalaCardsiLHX1
OpenTargetsiENSG00000273706
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)DescriptionActionsGraphical viewLength
ChainiPRO_00000757691 – 406LIM/homeobox protein Lhx1Add BLAST406

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP48742
PaxDbiP48742
PeptideAtlasiP48742
PRIDEiP48742

PTM databases

iPTMnetiP48742
PhosphoSitePlusiP48742

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

BgeeiENSG00000273706
CleanExiHS_LHX1
ExpressionAtlasiP48742 baseline and differential
GenevisibleiP48742 HS

Organism-specific databases

HPAiCAB002770

Interactioni

Subunit structurei

Interacts with LDB1 via the tandem LIM domains.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
C2CD6Q53TS84EBI-11990598,EBI-739879

Protein-protein interaction databases

BioGridi110163, 5 interactors
IntActiP48742, 3 interactors
STRINGi9606.ENSP00000254457

Structurei

3D structure databases

ProteinModelPortaliP48742
SMRiP48742
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 54LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST51
Domaini63 – 117LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST55

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

Keywords - Domaini

Homeobox, LIM domain, Repeat

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00760000118921
HOGENOMiHOG000231630
HOVERGENiHBG006263
InParanoidiP48742
KOiK09372
OMAiDDQNLGG
OrthoDBiEOG091G0BSD
PhylomeDBiP48742
TreeFamiTF315442

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF00412 LIM, 2 hits
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00132 LIM, 2 hits
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS00478 LIM_DOMAIN_1, 2 hits
PS50023 LIM_DOMAIN_2, 2 hits

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)DescriptionActionsGraphical viewLength
Sequence conflicti67A → R in AAA21644 (PubMed:9212161).Curated1
Sequence conflicti184R → G in AAA21644 (PubMed:9212161).Curated1
Sequence conflicti245 – 248GARR → AG in AAA21644 (PubMed:9212161).Curated4

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
ENST00000620305; ENSP00000484449; ENSG00000274577
GeneIDi3975
KEGGihsa:3975
UCSCiuc032feb.2 human

Similar proteinsi

Entry informationi

Entry nameiLHX1_HUMAN
AccessioniPrimary (citable) accession number: P48742
Secondary accession number(s): Q3MIW0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: March 1, 2005
Last modified: May 23, 2018
This is version 162 of the entry and version 2 of the sequence. See 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

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