Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P48742

- LHX1_HUMAN

UniProt

P48742 - LHX1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

LIM/homeobox protein Lhx1

Gene

LHX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi180 – 23960HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  3. transcription corepressor activity Source: UniProtKB
  4. zinc ion binding Source: InterPro

GO - Biological processi

  1. anatomical structure formation involved in morphogenesis Source: UniProtKB
  2. anatomical structure morphogenesis Source: UniProtKB
  3. anterior/posterior axis specification Source: UniProtKB
  4. anterior/posterior pattern specification Source: UniProtKB
  5. branching involved in ureteric bud morphogenesis Source: Ensembl
  6. cell-cell signaling Source: UniProtKB
  7. cellular response to fibroblast growth factor stimulus Source: Ensembl
  8. cerebellar Purkinje cell differentiation Source: UniProtKB
  9. cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Source: UniProtKB
  10. cerebellum development Source: UniProtKB
  11. cervix development Source: UniProtKB
  12. comma-shaped body morphogenesis Source: UniProtKB
  13. dorsal/ventral pattern formation Source: UniProtKB
  14. ectoderm formation Source: UniProtKB
  15. embryonic pattern specification Source: UniProtKB
  16. embryonic retina morphogenesis in camera-type eye Source: UniProtKB
  17. embryonic viscerocranium morphogenesis Source: UniProtKB
  18. endoderm formation Source: UniProtKB
  19. epithelium development Source: UniProtKB
  20. forebrain regionalization Source: UniProtKB
  21. gastrulation with mouth forming second Source: UniProtKB
  22. head development Source: UniProtKB
  23. horizontal cell localization Source: Ensembl
  24. kidney development Source: UniProtKB
  25. lateral motor column neuron migration Source: UniProtKB
  26. mesonephric duct development Source: Ensembl
  27. metanephric comma-shaped body morphogenesis Source: Ensembl
  28. metanephric glomerulus development Source: Ensembl
  29. metanephric part of ureteric bud development Source: Ensembl
  30. metanephric renal vesicle morphogenesis Source: Ensembl
  31. metanephric S-shaped body morphogenesis Source: Ensembl
  32. motor neuron axon guidance Source: UniProtKB
  33. negative regulation of transcription, DNA-templated Source: UniProtKB
  34. nephric duct elongation Source: Ensembl
  35. nephric duct morphogenesis Source: UniProtKB
  36. nervous system development Source: ProtInc
  37. organ morphogenesis Source: ProtInc
  38. oviduct development Source: UniProtKB
  39. oviduct epithelium development Source: UniProtKB
  40. paramesonephric duct development Source: UniProtKB
  41. pattern specification process Source: UniProtKB
  42. positive regulation of anterior head development Source: UniProtKB
  43. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
  44. positive regulation of embryonic development Source: UniProtKB
  45. positive regulation of gastrulation Source: UniProtKB
  46. positive regulation of nephron tubule epithelial cell differentiation Source: UniProtKB
  47. positive regulation of transcription, DNA-templated Source: UniProtKB
  48. post-embryonic development Source: UniProtKB
  49. primitive streak formation Source: UniProtKB
  50. pronephros development Source: Ensembl
  51. regulation of gene expression Source: UniProtKB
  52. renal vesicle morphogenesis Source: UniProtKB
  53. retina layer formation Source: UniProtKB
  54. somite rostral/caudal axis specification Source: Ensembl
  55. spinal cord association neuron differentiation Source: UniProtKB
  56. S-shaped body morphogenesis Source: UniProtKB
  57. telencephalon development Source: Ensembl
  58. transcription from RNA polymerase II promoter Source: UniProtKB
  59. ureteric bud development Source: UniProtKB
  60. urogenital system development Source: UniProtKB
  61. uterine epithelium development Source: UniProtKB
  62. uterus development Source: UniProtKB
  63. vagina development Source: UniProtKB
  64. ventral spinal cord development Source: Ensembl
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: Chromosome 17

Organism-specific databases

HGNCiHGNC:6593. LHX1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. protein complex Source: UniProtKB
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.

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. 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.
OMAiDIMSHHP.
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.

Polymorphism databases

DMDMi60416412.

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 .
CCDSi CCDS11316.1.
PIRi G01507.
RefSeqi NP_005559.2. NM_005568.4.
UniGenei Hs.443727.

3D structure databases

ProteinModelPortali P48742.
SMRi P48742. Positions 4-118, 186-236.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110163. 5 interactions.
STRINGi 9606.ENSP00000254457.

PTM databases

PhosphoSitei P48742.

Polymorphism databases

DMDMi 60416412.

Proteomic databases

PaxDbi P48742.
PRIDEi P48742.

Protocols and materials databases

DNASUi 3975.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000614239 ; ENSP00000477829 ; ENSG00000273706 .
GeneIDi 3975.
KEGGi hsa:3975.
UCSCi uc002hnh.2. human.

Organism-specific databases

CTDi 3975.
GeneCardsi GC17P035294.
HGNCi HGNC:6593. LHX1.
HPAi CAB002770.
MIMi 601999. gene.
neXtProti NX_P48742.
Orphaneti 261265. 17q12 microdeletion syndrome.
247775. Classic Mayer-Rokitansky-Kuster-Hauser syndrome.
2578. MURCS association.
PharmGKBi PA30364.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG257130.
GeneTreei ENSGT00760000118921.
HOGENOMi HOG000231630.
HOVERGENi HBG006263.
InParanoidi P48742.
KOi K09372.
OMAi DIMSHHP.
OrthoDBi EOG7PP56T.
PhylomeDBi P48742.
TreeFami TF315442.

Miscellaneous databases

GeneWikii LHX1.
GenomeRNAii 3975.
NextBioi 15580.
PROi P48742.
SOURCEi Search...

Gene expression databases

Bgeei P48742.
CleanExi HS_LHX1.
ExpressionAtlasi P48742. differential.
Genevestigatori P48742.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
2.10.110.10. 2 hits.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001781. Znf_LIM.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00412. LIM. 2 hits.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
SM00132. LIM. 2 hits.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00478. LIM_DOMAIN_1. 2 hits.
PS50023. LIM_DOMAIN_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 131 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