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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

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi89 – 14860HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  3. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: Ensembl

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. branchiomeric skeletal muscle development Source: Ensembl
  3. cartilage development Source: Ensembl
  4. embryonic hindlimb morphogenesis Source: Ensembl
  5. myoblast fate commitment Source: Ensembl
  6. pituitary gland development Source: Ensembl
  7. skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:9004. PITX1.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleolus Source: HPA
  3. nucleus Source: UniProtKB
  4. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti130 – 1301E → K in CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner. 1 Publication
VAR_058113
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).

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

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 314314Pituitary homeobox 1PRO_0000049218Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei46 – 461Phosphoserine1 Publication
Modified residuei48 – 481Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP78337.
PaxDbiP78337.
PeptideAtlasiP78337.
PRIDEiP78337.

PTM databases

PhosphoSiteiP78337.

Expressioni

Gene expression databases

BgeeiP78337.
CleanExiHS_PITX1.
ExpressionAtlasiP78337. baseline and differential.
GenevestigatoriP78337.

Organism-specific databases

HPAiHPA008743.

Interactioni

Protein-protein interaction databases

BioGridi111324. 24 interactions.
IntActiP78337. 3 interactions.
MINTiMINT-260914.
STRINGi9606.ENSP00000265340.

Structurei

3D structure databases

ProteinModelPortaliP78337.
SMRiP78337. Positions 89-148.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni147 – 279133Interacts with PIT-1By similarityAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi280 – 29314OARAdd
BLAST
Motifi286 – 2905Nuclear localization signalSequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi19 – 246Poly-Pro

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG249113.
HOGENOMiHOG000273886.
HOVERGENiHBG068770.
InParanoidiP78337.
KOiK09356.
OMAiCKNSYLP.
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 29, 2006 - v2
Checksum:iF0DFE45E14508A43
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171L → F in AAC51126 (PubMed:9070926).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti130 – 1301E → K in CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner. 1 Publication
VAR_058113
Natural varianti299 – 2991G → A.3 Publications
Corresponds to variant rs479632 [ dbSNP | Ensembl ].
VAR_049586

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.
UCSCiuc010jea.3. human.

Polymorphism databases

DMDMi108935922.

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. Positions 89-148.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111324. 24 interactions.
IntActiP78337. 3 interactions.
MINTiMINT-260914.
STRINGi9606.ENSP00000265340.

PTM databases

PhosphoSiteiP78337.

Polymorphism databases

DMDMi108935922.

Proteomic databases

MaxQBiP78337.
PaxDbiP78337.
PeptideAtlasiP78337.
PRIDEiP78337.

Protocols and materials databases

DNASUi5307.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265340; ENSP00000265340; ENSG00000069011.
ENST00000506438; ENSP00000427542; ENSG00000069011.
GeneIDi5307.
KEGGihsa:5307.
UCSCiuc010jea.3. human.

Organism-specific databases

CTDi5307.
GeneCardsiGC05M134363.
H-InvDBHIX0005190.
HGNCiHGNC:9004. PITX1.
HPAiHPA008743.
MIMi119800. phenotype.
186550. phenotype.
602149. gene.
neXtProtiNX_P78337.
Orphaneti1275. Brachydactyly - elbow wrist dysplasia.
293144. Familial clubfoot due to 5q31 microdeletion.
293150. Familial clubfoot due to PITX1 point mutation.
PharmGKBiPA33338.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG249113.
HOGENOMiHOG000273886.
HOVERGENiHBG068770.
InParanoidiP78337.
KOiK09356.
OMAiCKNSYLP.
PhylomeDBiP78337.
TreeFamiTF351940.

Miscellaneous databases

ChiTaRSiPITX1. human.
GeneWikiiPITX1.
GenomeRNAii5307.
NextBioi20514.
PROiP78337.
SOURCEiSearch...

Gene expression databases

BgeeiP78337.
CleanExiHS_PITX1.
ExpressionAtlasiP78337. baseline and differential.
GenevestigatoriP78337.

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...

Publicationsi

« Hide 'large scale' publications
  1. "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)."
    Shang J., Li X., Ring H.Z., Clayton D.A., Francke U.
    Genomics 40:108-113(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome."
    Crawford M.J., Lanctot C., Tremblay J.J., Jenkins N.A., Gilbert D.J., Copeland N.G., Beatty B., Drouin J.
    Mamm. Genome 8:841-845(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-299.
    Tissue: Embryo.
  4. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-299.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-299.
    Tissue: Pancreas and Placenta.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-46 AND SER-48, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. Cited for: INVOLVEMENT IN LBNBG.
  9. "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly."
    Klopocki E., Kahler C., Foulds N., Shah H., Joseph B., Vogel H., Luttgen S., Bald R., Besoke R., Held K., Mundlos S., Kurth I.
    Eur. J. Hum. Genet. 20:705-708(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CCF.
  10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation."
    Gurnett C.A., Alaee F., Kruse L.M., Desruisseau D.M., Hecht J.T., Wise C.A., Bowcock A.M., Dobbs M.B.
    Am. J. Hum. Genet. 83:616-622(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CCF LYS-130, CHARACTERIZATION OF VARIANT CCF LYS-130.

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 14, 1998
Last sequence update: May 29, 2006
Last modified: March 3, 2015
This is version 143 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

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.