MOUSE:PITX1

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Pitx1 (synonyms: Bft, Potx, Ptx1)
Protein Name(s)	Pituitary homeobox 1 Hindlimb-expressed homeobox protein backfoot Homeobox protein P-OTX Homeobox protein PITX1 Paired-like homeodomain transcription factor 1 Pituitary OTX-related factor
External Links
UniProt	P70314
EMBL	U54499 U71206 BC012696 U70371
CCDS	CCDS26556.1
RefSeq	NP_035227.1 XP_006517220.1 XP_006517221.1
UniGene	Mm.135195
ProteinModelPortal	P70314
SMR	P70314
BioGrid	202186
PhosphoSite	P70314
PRIDE	P70314
Ensembl	ENSMUST00000021968
GeneID	18740
KEGG	mmu:18740
UCSC	uc007qsd.1
CTD	5307
MGI	MGI:107374
eggNOG	NOG249113
HOGENOM	HOG000273886
HOVERGEN	HBG068770
InParanoid	P70314
KO	K09356
OMA	CKNSYLP
OrthoDB	EOG7VTDNW
PhylomeDB	P70314
TreeFam	TF351940
NextBio	294881
PRO	PR:P70314
Proteomes	UP000000589
Bgee	P70314
CleanEx	MM_PITX1
ExpressionAtlas	P70314
Genevestigator	P70314
GO	GO:0005737 GO:0005730 GO:0005634 GO:0005667 GO:0000978 GO:0001077 GO:0001190 GO:0014707 GO:0051216 GO:0035116 GO:0035137 GO:0048625 GO:0021983 GO:0045944 GO:0001501
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	Extension	Notes	Status
	GO:0060415	muscle tissue morphogenesis	PMID:22071103^[1]	ECO:0000315			P		Figure 3 (C and D) show that extensor digitorum brevis muscle formation is rescued by Pitx1 but not Tbx4	complete CACAO 10171
	GO:0045892	negative regulation of transcription, DNA-dependent	PMID:21300782^[2]	ECO:0000315			P		Figure 3 shows that TERT expression levels are decreased when PITX1 expression is high. Figure 4 further details that TERT expression is controlled through PITX1 binding to the promoter region of TERT.	complete CACAO 7263
	GO:0035116	embryonic hindlimb morphogenesis	PMID:22071103^[1]	ECO:0000315			P		Figure 4 (B) shows that when Pitx1 is knocked out, peroneus longus muscle and tendon are absent. Discussion in article notes these findings are due to improper skeletal structure development. In addition, it is inferred from discussion that the entire hindlimb is affected.	complete CACAO 10172
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:21300782^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035116	embryonic hindlimb morphogenesis	PMID:22071103^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:8675014^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(NCBI_Gene:18976)	Seeded From UniProt	complete
enables	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	PMID:8675014^[3]	ECO:0000314	direct assay evidence used in manual assertion		F	occurs_at:(SO:0001952)	Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	PMID:8675014^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	PMID:21873635^[4]	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^[4]	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^[4]	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^[4]	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^[4]	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
acts_upstream_of_or_within	GO:0051216	cartilage development	PMID:10101115^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857659	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048625	myoblast fate commitment	PMID:17384148^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2384494	P	occurs_in:(EMAPA:16118) results_in_commitment_to:(CL:0000056)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:9192866^[7]	ECO:0001220	in vivo transcription assay evidence used in manual assertion		P	has_regulation_target:(MGI:MGI:88390)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:9192866^[7]	ECO:0001220	in vivo transcription assay evidence used in manual assertion		P	has_regulation_target:(MGI:MGI:88390)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:9192866^[7]	ECO:0001220	in vivo transcription assay evidence used in manual assertion		P	has_regulation_target:(MGI:MGI:88390)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:9192866^[7]	ECO:0001220	in vivo transcription assay evidence used in manual assertion		P	has_regulation_target:(MGI:MGI:88390)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:9192866^[7]	ECO:0001220	in vivo transcription assay evidence used in manual assertion		P	has_regulation_target:(MGI:MGI:88390)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:10431247^[8]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:102673 MGI:MGI:1342291 MGI:MGI:894670	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035137	hindlimb morphogenesis	PMID:10101115^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857659	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035137	hindlimb morphogenesis	PMID:10049363^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1934200	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035137	hindlimb morphogenesis	PMID:16989801^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035137	hindlimb morphogenesis	PMID:15621531^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035116	embryonic hindlimb morphogenesis	PMID:18231602^[12]	ECO:0000316	genetic interaction evidence used in manual assertion	MGI:MGI:109340	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0021983	pituitary gland development	PMID:10049363^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1934200	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0014707	branchiomeric skeletal muscle development	PMID:17384148^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:2384494	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:69253	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:19531352^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005730	nucleolus	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P78337	C		Seeded From UniProt	complete
part_of	GO:0005667	transcription factor complex	PMID:9192866^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:19531352^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P78337	C		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	RGD:69253	F		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001501	skeletal system development	PMID:10101115^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857659	P		Seeded From UniProt	complete
enables	GO:0001085	RNA polymerase II transcription factor binding	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:P78337	F		Seeded From UniProt	complete
part_of	GO:0005730	nucleolus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P78337 ensembl:ENSP00000265340	C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P78337 ensembl:ENSP00000265340	C		Seeded From UniProt	complete
enables	GO:0001085	RNA polymerase II transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P78337 ensembl:ENSP00000265340	F		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:Q99NA7 ensembl:ENSRNOP00000015307	P		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:Q99NA7 ensembl:ENSRNOP00000015307	F		Seeded From UniProt	complete
part_of	GO:0005730	nucleolus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:X5D9A5 ensembl:ENSP00000265340	C		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
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
enables	GO:0003677	DNA binding	GO_REF:0000037 GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0371 UniProtKB-KW:KW-0238	F		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
edit table

Notes

References

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

↑ ^1.0 ^1.1 ^1.2 Duboc, V & Logan, MP (2011) Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control. Development 138 5301-9 PubMed GONUTS page
↑ ^2.0 ^2.1 Qi, DL et al. (2011) Identification of PITX1 as a TERT suppressor gene located on human chromosome 5. Mol. Cell. Biol. 31 1624-36 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 Lamonerie, T et al. (1996) Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes Dev. 10 1284-95 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Lanctôt, C et al. (1999) Hindlimb patterning and mandible development require the Ptx1 gene. Development 126 1805-10 PubMed GONUTS page
↑ ^6.0 ^6.1 Shih, HP et al. (2007) Cranial muscle defects of Pitx2 mutants result from specification defects in the first branchial arch. Proc. Natl. Acad. Sci. U.S.A. 104 5907-12 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 Bach, I et al. (1997) A family of LIM domain-associated cofactors confer transcriptional synergism between LIM and Otx homeodomain proteins. Genes Dev. 11 1370-80 PubMed GONUTS page
↑ Bach, I et al. (1999) RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex. Nat. Genet. 22 394-9 PubMed GONUTS page
↑ ^9.0 ^9.1 Szeto, DP et al. (1999) Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev. 13 484-94 PubMed GONUTS page
↑ DeLaurier, A et al. (2006) Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb. Dev. Biol. 299 22-34 PubMed GONUTS page
↑ Minguillon, C et al. (2005) Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev. Cell 8 75-84 PubMed GONUTS page
↑ De Langhe, SP et al. (2008) Formation and differentiation of multiple mesenchymal lineages during lung development is regulated by beta-catenin signaling. PLoS ONE 3 e1516 PubMed GONUTS page
↑ ^13.0 ^13.1 Sambasivan, R et al. (2009) Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev. Cell 16 810-21 PubMed GONUTS page

[PMID:22071103-1] 1.0 ^1.1 ^1.2 Duboc, V & Logan, MP (2011) Pitx1 is necessary for normal initiation of hindlimb outgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control. Development 138 5301-9 PubMed GONUTS page

[PMID:21300782-2] 2.0 ^2.1 Qi, DL et al. (2011) Identification of PITX1 as a TERT suppressor gene located on human chromosome 5. Mol. Cell. Biol. 31 1624-36 PubMed GONUTS page

[PMID:8675014-3] 3.0 ^3.1 ^3.2 Lamonerie, T et al. (1996) Ptx1, a bicoid-related homeo box transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes Dev. 10 1284-95 PubMed GONUTS page

[PMID:21873635-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 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:10101115-5] 5.0 ^5.1 ^5.2 Lanctôt, C et al. (1999) Hindlimb patterning and mandible development require the Ptx1 gene. Development 126 1805-10 PubMed GONUTS page

[PMID:17384148-6] 6.0 ^6.1 Shih, HP et al. (2007) Cranial muscle defects of Pitx2 mutants result from specification defects in the first branchial arch. Proc. Natl. Acad. Sci. U.S.A. 104 5907-12 PubMed GONUTS page

[PMID:9192866-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 Bach, I et al. (1997) A family of LIM domain-associated cofactors confer transcriptional synergism between LIM and Otx homeodomain proteins. Genes Dev. 11 1370-80 PubMed GONUTS page

[PMID:10431247-8] Bach, I et al. (1999) RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex. Nat. Genet. 22 394-9 PubMed GONUTS page

[PMID:10049363-9] 9.0 ^9.1 Szeto, DP et al. (1999) Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev. 13 484-94 PubMed GONUTS page

[PMID:16989801-10] DeLaurier, A et al. (2006) Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb. Dev. Biol. 299 22-34 PubMed GONUTS page

[PMID:15621531-11] Minguillon, C et al. (2005) Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev. Cell 8 75-84 PubMed GONUTS page

[PMID:18231602-12] De Langhe, SP et al. (2008) Formation and differentiation of multiple mesenchymal lineages during lung development is regulated by beta-catenin signaling. PLoS ONE 3 e1516 PubMed GONUTS page

[PMID:19531352-13] 13.0 ^13.1 Sambasivan, R et al. (2009) Distinct regulatory cascades govern extraocular and pharyngeal arch muscle progenitor cell fates. Dev. Cell 16 810-21 PubMed GONUTS page

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

[13]

MOUSE:PITX1

Contents

Annotations

Notes

References

a

b

c

d

e

g

h

m

n

p

r

s

t

v

Navigation menu

Personal tools

Namespaces

Variants

Views

More

Search

Navigation

Cacao

Links

Tools