HUMAN:PITX3

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	PITX3 (synonyms: PTX3)
Protein Name(s)	Pituitary homeobox 3 Homeobox protein PITX3 Paired-like homeodomain transcription factor 3
External Links
UniProt	O75364
EMBL	AF041339 AL160011 BC011642
CCDS	CCDS7532.1
RefSeq	NP_005020.1
UniGene	Hs.137568
ProteinModelPortal	O75364
SMR	O75364
BioGrid	111326
STRING	9606.ENSP00000359019
PhosphoSite	O75364
PaxDb	O75364
PRIDE	O75364
DNASU	5309
Ensembl	ENST00000370002 ENST00000539804
GeneID	5309
KEGG	hsa:5309
UCSC	uc001kuu.1
CTD	5309
GeneCards	GC10M103979
GeneReviews	PITX3
HGNC	HGNC:9006
HPA	HPA044639
MIM	107250 602669 610623
neXtProt	NX_O75364
Orphanet	162 88632 98993
PharmGKB	PA33340
eggNOG	NOG249113
GeneTree	ENSGT00760000118908
HOGENOM	HOG000273886
HOVERGEN	HBG068770
InParanoid	O75364
KO	K09357
OMA	LCKGGFA
OrthoDB	EOG7VTDNW
PhylomeDB	O75364
TreeFam	TF351940
GeneWiki	PITX3
GenomeRNAi	5309
NextBio	20526
PRO	PR:O75364
Proteomes	UP000005640
Bgee	O75364
CleanEx	HS_PITX3 HS_PTX3
Genevestigator	O75364
GO	GO:0005634 GO:0000978 GO:0001077 GO:0071542 GO:0002088 GO:0070306 GO:0002089 GO:0007626 GO:0030901 GO:0048666 GO:0009887 GO:0045893 GO:0006355
Gene3D	1.10.10.60
InterPro	IPR017970 IPR001356 IPR016233 IPR009057 IPR003654
Pfam	PF00046 PF03826
PIRSF	PIRSF000563
SMART	SM00389
SUPFAM	SSF46689
PROSITE	PS00027 PS50071 PS50803

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000303	author statement without traceable support used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR001356 InterPro:IPR009057 InterPro:IPR016233	F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:Q8VIH1	F	Seeded From UniProt	complete
involved_in	GO:0071542	dopaminergic neuron differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	P	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	P	Seeded From UniProt	complete
involved_in	GO:0030901	midbrain development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	P	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	C	Seeded From UniProt	complete
involved_in	GO:0002089	lens morphogenesis in camera-type eye	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	P	Seeded From UniProt	complete
involved_in	GO:0002088	lens development in camera-type eye	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:O35160	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109340 PANTHER:PTN001551528 WB:WBGene00006766	F	Seeded From UniProt	complete
involved_in	GO:0009653	anatomical structure morphogenesis	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109340 PANTHER:PTN001551528	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0020912 MGI:MGI:107374 MGI:MGI:109340 MGI:MGI:1100498 PANTHER:PTN001551528 RGD:3331 RGD:3332 UniProtKB:P78337 UniProtKB:Q99697 WB:WBGene00006766	C	Seeded From UniProt	complete
enables	GO:0001085	RNA polymerase II transcription factor binding	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001551528 UniProtKB:P78337 UniProtKB:Q99697	F	Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	PMID:21873635^[2]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:107374 MGI:MGI:1100498 PANTHER:PTN001551528 RGD:3331	F	Seeded From UniProt	complete
involved_in	GO:0071542	dopaminergic neuron differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0070306	lens fiber cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0048666	neuron development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0030901	midbrain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0010468	regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0007626	locomotory behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	C	Seeded From UniProt	complete
involved_in	GO:0002089	lens morphogenesis in camera-type eye	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
involved_in	GO:0002088	lens development in camera-type eye	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	P	Seeded From UniProt	complete
enables	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	F	Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35160 ensembl:ENSMUSP00000026259	F	Seeded From UniProt	complete
involved_in	GO:1990792	cellular response to glial cell derived neurotrophic factor	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:1904935	positive regulation of cell proliferation in midbrain	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:1904313	response to methamphetamine hydrochloride	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:0050768	negative regulation of neurogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:0043525	positive regulation of neuron apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:0043278	response to morphine	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
part_of	GO:0043025	neuronal cell body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	C	Seeded From UniProt	complete
involved_in	GO:0042220	response to cocaine	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:0035902	response to immobilization stress	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:0014014	negative regulation of gliogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
involved_in	GO:0007568	aging	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	C	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P81062 ensembl:ENSRNOP00000026013	F	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001356 InterPro:IPR009057	F	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016233	F	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR017970	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR017970	F	Seeded From UniProt	complete
involved_in	GO:0071542	dopaminergic neuron differentiation	PMID:24431302^[3]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0009887	animal organ morphogenesis	PMID:9620774^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037 GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238 UniProtKB-KW:KW-0371	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Arenas, E (2014) Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease. J Mol Cell Biol 6 42-53 PubMed GONUTS page
↑ Semina, EV et al. (1998) A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat. Genet. 19 167-70 PubMed GONUTS page

[PMID:19274049-1] 1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:21873635-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:24431302-3] Arenas, E (2014) Wnt signaling in midbrain dopaminergic neuron development and regenerative medicine for Parkinson's disease. J Mol Cell Biol 6 42-53 PubMed GONUTS page

[PMID:9620774-4] Semina, EV et al. (1998) A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat. Genet. 19 167-70 PubMed GONUTS page

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HUMAN:PITX3

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