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PITX3

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GENERAL INFORMATION

Gene name

 PITX3

Gene description

 Paired-like homeodomain 3

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enriched (RH-30)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (RH-30)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 PITX3 (HGNC Symbol)

Synonyms

 ASMD

Description

 Paired-like homeodomain 3 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]

Chromosome

 10

Cytoband

 q24.32

Chromosome location (bp)

 102230186 - 102241474

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000107859 (version 83.38)

Entrez gene

 5309

UniProt

 O75364 (UniProt - Evidence at protein level)

neXtProt

 NX_O75364

Antibodypedia

 PITX3 antibodies

PROTEIN BROWSER
PITX3-001
PITX3-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PITX3-001
ENSP00000359019
ENST00000370002
O75364 [Direct mapping]
Pituitary homeobox 3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0002088 [lens development in camera-type eye]
GO:0002089 [lens morphogenesis in camera-type eye]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007626 [locomotory behavior]
GO:0009887 [organ morphogenesis]
GO:0010468 [regulation of gene expression]
GO:0030901 [midbrain development]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048666 [neuron development]
GO:0070306 [lens fiber cell differentiation]
GO:0071542 [dopaminergic neuron differentiation]
Show all
 302 aa
31.8 kDa 		No 0
PITX3-201
ENSP00000439383
ENST00000539804
O75364 [Direct mapping]
Pituitary homeobox 3
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0002088 [lens development in camera-type eye]
GO:0002089 [lens morphogenesis in camera-type eye]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0009887 [organ morphogenesis]
GO:0030901 [midbrain development]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0071542 [dopaminergic neuron differentiation]
Show all
 302 aa
31.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.