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Protein

LIM/homeobox protein Lhx4

Gene

LHX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA (PubMed:28473536).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi157 – 216HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-9010553 Regulation of expression of SLITs and ROBOs
SIGNORiQ969G2

Names & Taxonomyi

Protein namesi
Recommended name:
LIM/homeobox protein Lhx4
Short name:
LIM homeobox protein 4
Gene namesi
Name:LHX4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000121454.5
HGNCiHGNC:21734 LHX4
MIMi602146 gene
neXtProtiNX_Q969G2

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

Involvement in diseasei

Pituitary hormone deficiency, combined, 4 (CPHD4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCombined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica.
See also OMIM:262700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05871584R → C in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein. 1 PublicationCorresponds to variant dbSNP:rs121912642EnsemblClinVar.1
Natural variantiVAR_058716190L → R in CPHD4; the mutant protein is inactive in DNA binding and pituitary gene activation assays. 1 PublicationCorresponds to variant dbSNP:rs121912643EnsemblClinVar.1
Natural variantiVAR_058717210A → P in CPHD4; the mutant protein is inactive in DNA binding and pituitary gene activation assays. 1 PublicationCorresponds to variant dbSNP:rs121912641EnsemblClinVar.1
Natural variantiVAR_063241389P → T in CPHD4. 1 PublicationCorresponds to variant dbSNP:rs145433128Ensembl.1
A chromosomal aberration involving LHX4 may be a cause of acute lymphoblastic leukemia. Translocation t(1;14)(q25;q32) with IGHG1.1 Publication

Keywords - Diseasei

Disease mutation, Dwarfism, Proto-oncogene

Organism-specific databases

DisGeNETi89884
MalaCardsiLHX4
MIMi262700 phenotype
OpenTargetsiENSG00000121454
Orphaneti95494 Combined pituitary hormone deficiencies, genetic forms
226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
95496 Pituitary stalk interruption syndrome
85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome
PharmGKBiPA134962876

Polymorphism and mutation databases

BioMutaiLHX4
DMDMi209572644

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000757871 – 390LIM/homeobox protein Lhx4Add BLAST390

Proteomic databases

PaxDbiQ969G2
PeptideAtlasiQ969G2
PRIDEiQ969G2
ProteomicsDBi75753

PTM databases

iPTMnetiQ969G2
PhosphoSitePlusiQ969G2

Expressioni

Gene expression databases

BgeeiENSG00000121454 Expressed in 97 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_LHX4
ExpressionAtlasiQ969G2 baseline and differential
GenevisibleiQ969G2 HS

Organism-specific databases

HPAiHPA055705

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi124635, 34 interactors
DIPiDIP-29454N
IntActiQ969G2, 42 interactors
MINTiQ969G2
STRINGi9606.ENSP00000263726

Structurei

Secondary structure

1390
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ969G2
SMRiQ969G2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 87LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST60
Domaini88 – 150LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST63

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni161 – 181Interaction with DNA1 PublicationAdd BLAST21
Regioni199 – 211Interaction with 5-mCpG DNA1 PublicationAdd BLAST13

Keywords - Domaini

Homeobox, LIM domain, Repeat

Phylogenomic databases

eggNOGiKOG4577 Eukaryota
ENOG410XPDC LUCA
GeneTreeiENSGT00760000118921
HOGENOMiHOG000231629
HOVERGENiHBG006263
InParanoidiQ969G2
KOiK09374
OMAiCSQHILD
OrthoDBiEOG091G0BSD
PhylomeDBiQ969G2
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q969G2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMQSATVPAE GAVKGLPEML GVPMQQIPQC AGCNQHILDK FILKVLDRHW
60 70 80 90 100
HSSCLKCADC QMQLADRCFS RAGSVYCKED FFKRFGTKCT ACQQGIPPTQ
110 120 130 140 150
VVRKAQDFVY HLHCFACIIC NRQLATGDEF YLMEDGRLVC KEDYETAKQN
160 170 180 190 200
DDSEAGAKRP RTTITAKQLE TLKNAYKNSP KPARHVREQL SSETGLDMRV
210 220 230 240 250
VQVWFQNRRA KEKRLKKDAG RHRWGQFYKS VKRSRGSSKQ EKESSAEDCG
260 270 280 290 300
VSDSELSFRE DQILSELGHT NRIYGNVGDV TGGQLMNGSF SMDGTGQSYQ
310 320 330 340 350
DLRDGSPYGI PQSPSSISSL PSHAPLLNGL DYTVDSNLGI IAHAGQGVSQ
360 370 380 390
TLRAMAGGPT SDISTGSSVG YPDFPTSPGS WLDEMDHPPF
Length:390
Mass (Da):43,124
Last modified:October 14, 2008 - v2
Checksum:i6499F38E78B79FD1
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YKF4H0YKF4_HUMAN
LIM/homeobox protein Lhx4
LHX4
151Annotation score:

Sequence cautioni

The sequence BAB62817 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti335D → G in AAL07260 (PubMed:12118377).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05871584R → C in CPHD4; has impaired activity on CGA, POU1F1 and TSHB promoters but exhibits normal DNA binding to the CGA pituitary glycoprotein basal element (PGBE) and interaction with the POU1F1 protein. 1 PublicationCorresponds to variant dbSNP:rs121912642EnsemblClinVar.1
Natural variantiVAR_058716190L → R in CPHD4; the mutant protein is inactive in DNA binding and pituitary gene activation assays. 1 PublicationCorresponds to variant dbSNP:rs121912643EnsemblClinVar.1
Natural variantiVAR_058717210A → P in CPHD4; the mutant protein is inactive in DNA binding and pituitary gene activation assays. 1 PublicationCorresponds to variant dbSNP:rs121912641EnsemblClinVar.1
Natural variantiVAR_046661328N → S. Corresponds to variant dbSNP:rs7536561EnsemblClinVar.1
Natural variantiVAR_063241389P → T in CPHD4. 1 PublicationCorresponds to variant dbSNP:rs145433128Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY053457 mRNA Translation: AAL07260.1
AF179849 mRNA Translation: AAK70923.1
AF405430
, AF405425, AF405426, AF405427, AF405428, AF405429 Genomic DNA Translation: AAM91896.1
AL139141 Genomic DNA No translation available.
BC011759 mRNA Translation: AAH11759.1
AB055703 mRNA Translation: BAB62817.1 Different initiation.
AB037683 mRNA Translation: BAC01272.1
AF282899 mRNA Translation: AAK69169.1
AH011598 Genomic DNA Translation: AAM19349.1
CCDSiCCDS1338.1
RefSeqiNP_203129.1, NM_033343.3
UniGeneiHs.658487

Genome annotation databases

EnsembliENST00000263726; ENSP00000263726; ENSG00000121454
GeneIDi89884
KEGGihsa:89884
UCSCiuc001goe.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY053457 mRNA Translation: AAL07260.1
AF179849 mRNA Translation: AAK70923.1
AF405430
, AF405425, AF405426, AF405427, AF405428, AF405429 Genomic DNA Translation: AAM91896.1
AL139141 Genomic DNA No translation available.
BC011759 mRNA Translation: AAH11759.1
AB055703 mRNA Translation: BAB62817.1 Different initiation.
AB037683 mRNA Translation: BAC01272.1
AF282899 mRNA Translation: AAK69169.1
AH011598 Genomic DNA Translation: AAM19349.1
CCDSiCCDS1338.1
RefSeqiNP_203129.1, NM_033343.3
UniGeneiHs.658487

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5HODX-ray2.68A/D156-216[»]
ProteinModelPortaliQ969G2
SMRiQ969G2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124635, 34 interactors
DIPiDIP-29454N
IntActiQ969G2, 42 interactors
MINTiQ969G2
STRINGi9606.ENSP00000263726

PTM databases

iPTMnetiQ969G2
PhosphoSitePlusiQ969G2

Polymorphism and mutation databases

BioMutaiLHX4
DMDMi209572644

Proteomic databases

PaxDbiQ969G2
PeptideAtlasiQ969G2
PRIDEiQ969G2
ProteomicsDBi75753

Protocols and materials databases

DNASUi89884
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263726; ENSP00000263726; ENSG00000121454
GeneIDi89884
KEGGihsa:89884
UCSCiuc001goe.3 human

Organism-specific databases

CTDi89884
DisGeNETi89884
EuPathDBiHostDB:ENSG00000121454.5
GeneCardsiLHX4
HGNCiHGNC:21734 LHX4
HPAiHPA055705
MalaCardsiLHX4
MIMi262700 phenotype
602146 gene
neXtProtiNX_Q969G2
OpenTargetsiENSG00000121454
Orphaneti95494 Combined pituitary hormone deficiencies, genetic forms
226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function
95496 Pituitary stalk interruption syndrome
85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome
PharmGKBiPA134962876
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4577 Eukaryota
ENOG410XPDC LUCA
GeneTreeiENSGT00760000118921
HOGENOMiHOG000231629
HOVERGENiHBG006263
InParanoidiQ969G2
KOiK09374
OMAiCSQHILD
OrthoDBiEOG091G0BSD
PhylomeDBiQ969G2
TreeFamiTF315442

Enzyme and pathway databases

ReactomeiR-HSA-9010553 Regulation of expression of SLITs and ROBOs
SIGNORiQ969G2

Miscellaneous databases

ChiTaRSiLHX4 human
GeneWikiiLHX4
GenomeRNAii89884
PROiPR:Q969G2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121454 Expressed in 97 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_LHX4
ExpressionAtlasiQ969G2 baseline and differential
GenevisibleiQ969G2 HS

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
ProtoNetiSearch...

Entry informationi

Entry nameiLHX4_HUMAN
AccessioniPrimary (citable) accession number: Q969G2
Secondary accession number(s): Q8NHE0
, Q8NHM1, Q8TCJ1, Q8WWX2, Q969W2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 14, 2008
Last modified: November 7, 2018
This is version 170 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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