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Protein

Pituitary homeobox 1

Gene

PITX1

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

Functioni

Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi89 – 148HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000069011-MONOMER.
SIGNORiP78337.

Names & Taxonomyi

Protein namesi
Recommended name:
Pituitary homeobox 1
Alternative name(s):
Hindlimb-expressed homeobox protein backfoot
Homeobox protein PITX1
Paired-like homeodomain transcription factor 1
Gene namesi
Name:PITX1
Synonyms:BFT, PTX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:9004. PITX1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: Ensembl
  • nucleolus Source: HPA
  • nucleus Source: UniProtKB
  • transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.
See also OMIM:119800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058113130E → K in CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner. 1 PublicationCorresponds to variant rs121909109dbSNPEnsembl.1
Liebenberg syndrome (LBNBG)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1 locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the forelimb via the activation of ectopic enhancers (PubMed:23022097).1 Publication
Disease descriptionAn upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation.
See also OMIM:186550

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5307.
MalaCardsiPITX1.
MIMi119800. phenotype.
186550. phenotype.
OpenTargetsiENSG00000069011.
Orphaneti1275. Brachydactyly - elbow wrist dysplasia.
293144. Familial clubfoot due to 5q31 microdeletion.
293150. Familial clubfoot due to PITX1 point mutation.
PharmGKBiPA33338.

Polymorphism and mutation databases

BioMutaiPITX1.
DMDMi108935922.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492181 – 314Pituitary homeobox 1Add BLAST314

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei46PhosphoserineCombined sources1
Modified residuei48PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

PaxDbiP78337.
PeptideAtlasiP78337.
PRIDEiP78337.

PTM databases

iPTMnetiP78337.
PhosphoSitePlusiP78337.

Expressioni

Gene expression databases

BgeeiENSG00000069011.
CleanExiHS_PITX1.
ExpressionAtlasiP78337. baseline and differential.
GenevisibleiP78337. HS.

Organism-specific databases

HPAiHPA008743.

Interactioni

Subunit structurei

Interacts with POU1F1 (PubMed:26612202).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DVL3Q929973EBI-748265,EBI-739789
RBPMSQ930624EBI-748265,EBI-740322

GO - Molecular functioni

  • RNA polymerase II transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111324. 27 interactors.
IntActiP78337. 17 interactors.
MINTiMINT-260914.
STRINGi9606.ENSP00000265340.

Structurei

3D structure databases

ProteinModelPortaliP78337.
SMRiP78337.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni147 – 279Interaction with PIT-1By similarityAdd BLAST133

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi280 – 293OARPROSITE-ProRule annotationAdd BLAST14
Motifi286 – 290Nuclear localization signalSequence analysis5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi19 – 24Poly-Pro6

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0486. Eukaryota.
ENOG410ZZ6J. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000273886.
HOVERGENiHBG068770.
InParanoidiP78337.
KOiK09356.
OMAiCKNSYLP.
OrthoDBiEOG091G0H7U.
PhylomeDBiP78337.
TreeFamiTF351940.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P78337-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDAFKGGMSL ERLPEGLRPP PPPPHDMGPA FHLARPADPR EPLENSASES
60 70 80 90 100
SDTELPEKER GGEPKGPEDS GAGGTGCGGA DDPAKKKKQR RQRTHFTSQQ
110 120 130 140 150
LQELEATFQR NRYPDMSMRE EIAVWTNLTE PRVRVWFKNR RAKWRKRERN
160 170 180 190 200
QQLDLCKGGY VPQFSGLVQP YEDVYAAGYS YNNWAAKSLA PAPLSTKSFT
210 220 230 240 250
FFNSMSPLSS QSMFSAPSSI SSMTMPSSMG PGAVPGMPNS GLNNINNLTG
260 270 280 290 300
SSLNSAMSPG ACPYGTPASP YSVYRDTCNS SLASLRLKSK QHSSFGYGGL
310
QGPASGLNAC QYNS
Length:314
Mass (Da):34,128
Last modified:May 30, 2006 - v2
Checksum:iF0DFE45E14508A43
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti17L → F in AAC51126 (PubMed:9070926).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058113130E → K in CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner. 1 PublicationCorresponds to variant rs121909109dbSNPEnsembl.1
Natural variantiVAR_049586299G → A.3 PublicationsCorresponds to variant rs479632dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70370 mRNA. Translation: AAC51126.1.
AF009650, AF009648, AF009649 Genomic DNA. Translation: AAB65251.1.
AK290635 mRNA. Translation: BAF83324.1.
AC004764 Genomic DNA. Translation: AAC17733.1.
AC008406 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62226.1.
CH471062 Genomic DNA. Translation: EAW62227.1.
BC009412 mRNA. Translation: AAH09412.1.
BC003685 mRNA. Translation: AAH03685.1.
CCDSiCCDS4182.1.
RefSeqiNP_002644.4. NM_002653.4.
UniGeneiHs.84136.

Genome annotation databases

EnsembliENST00000265340; ENSP00000265340; ENSG00000069011.
ENST00000506438; ENSP00000427542; ENSG00000069011.
GeneIDi5307.
KEGGihsa:5307.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70370 mRNA. Translation: AAC51126.1.
AF009650, AF009648, AF009649 Genomic DNA. Translation: AAB65251.1.
AK290635 mRNA. Translation: BAF83324.1.
AC004764 Genomic DNA. Translation: AAC17733.1.
AC008406 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62226.1.
CH471062 Genomic DNA. Translation: EAW62227.1.
BC009412 mRNA. Translation: AAH09412.1.
BC003685 mRNA. Translation: AAH03685.1.
CCDSiCCDS4182.1.
RefSeqiNP_002644.4. NM_002653.4.
UniGeneiHs.84136.

3D structure databases

ProteinModelPortaliP78337.
SMRiP78337.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111324. 27 interactors.
IntActiP78337. 17 interactors.
MINTiMINT-260914.
STRINGi9606.ENSP00000265340.

PTM databases

iPTMnetiP78337.
PhosphoSitePlusiP78337.

Polymorphism and mutation databases

BioMutaiPITX1.
DMDMi108935922.

Proteomic databases

PaxDbiP78337.
PeptideAtlasiP78337.
PRIDEiP78337.

Protocols and materials databases

DNASUi5307.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265340; ENSP00000265340; ENSG00000069011.
ENST00000506438; ENSP00000427542; ENSG00000069011.
GeneIDi5307.
KEGGihsa:5307.

Organism-specific databases

CTDi5307.
DisGeNETi5307.
GeneCardsiPITX1.
H-InvDBHIX0005190.
HGNCiHGNC:9004. PITX1.
HPAiHPA008743.
MalaCardsiPITX1.
MIMi119800. phenotype.
186550. phenotype.
602149. gene.
neXtProtiNX_P78337.
OpenTargetsiENSG00000069011.
Orphaneti1275. Brachydactyly - elbow wrist dysplasia.
293144. Familial clubfoot due to 5q31 microdeletion.
293150. Familial clubfoot due to PITX1 point mutation.
PharmGKBiPA33338.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0486. Eukaryota.
ENOG410ZZ6J. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000273886.
HOVERGENiHBG068770.
InParanoidiP78337.
KOiK09356.
OMAiCKNSYLP.
OrthoDBiEOG091G0H7U.
PhylomeDBiP78337.
TreeFamiTF351940.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000069011-MONOMER.
SIGNORiP78337.

Miscellaneous databases

ChiTaRSiPITX1. human.
GeneWikiiPITX1.
GenomeRNAii5307.
PROiP78337.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000069011.
CleanExiHS_PITX1.
ExpressionAtlasiP78337. baseline and differential.
GenevisibleiP78337. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPITX1_HUMAN
AccessioniPrimary (citable) accession number: P78337
Secondary accession number(s): A8K3M0
, D3DQB0, O14677, O60425, Q9BTI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 30, 2006
Last modified: November 30, 2016
This is version 160 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 5
    Human chromosome 5: 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. SIMILARITY comments
    Index of protein domains and families

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 one 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.