Gene: Pitx1

Basic information

Tag Content
Uniprot ID Q99NA7
Entrez ID 113983
Genbank protein ID BAB41202.1; AAH61966.1;
Genbank nucleotide ID XM_006253569.3; NM_053624.2;
Ensembl protein ID ENSRNOP00000015307
Ensembl nucleotide ID ENSRNOG00000011423
Gene name Pituitary homeobox 1
Gene symbol Pitx1
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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.
Sequence
MDAFKGGMSL ERLPEGLRPP PPPPHDMGPS FHLARTADPR EPLENSASES SDADLPDKER 60
GGEAKVPEDG GAGSAGCGSA EDPAKKKKQR RQRTHFTSQQ LQELEATFQR NRYPDMSMRE 120
EIAVWTNLTE PRVRVWFKNR RAKWRKRERN QQLDLCKGGY VPQFSGLVQP YEDVYAAAGY 180
SYNNWAAKSL APAPLSTKSF TFFNSMSPLS SQSMFSAPSS ISSMTMPSSM GPGSVPGMPN 240
SGLNNINNLT GSSLNSAMSP GACPYGTPAS PYSVYRDTCN SSLASLRLKS KQHSSFGYGG 300
LQGPASGLNA CQYNS 315

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologPITX1508754F1MU46Bos taurusPredictionMore>>
1:1 orthologPITX1481513E2RRG5Canis lupus familiarisPredictionMore>>
1:1 orthologPITX1102181864A0A452DRM8Capra hircusPredictionMore>>
1:1 orthologPITX15307P78337Homo sapiensPredictionMore>>
1:1 orthologPitx118740P70314CPOE12.5, E13.5, E14.5, E15.5Mus musculusPublicationMore>>
1:1 orthologPITX1462072A0A2J8LRP3Pan troglodytesPredictionMore>>
1:1 orthologPITX1100689266F8SIP6Sus scrofaPredictionMore>>
1:1 orthologPitx1113983Q99NA7Rattus norvegicusPredictionMore>>
1:1 orthologpitx1B2LT56Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0005737 cytoplasm
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0009653 anatomical structure morphogenesis
GO:0014707 branchiomeric skeletal muscle development
GO:0051216 cartilage development
GO:0035116 embryonic hindlimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0048625 myoblast fate commitment
GO:0045892 negative regulation of transcription, DNA-templated
GO:0021983 pituitary gland development
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0006355 regulation of transcription, DNA-templated
GO:0001501 skeletal system development

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0010 Activator
KW-0217 Developmental protein
KW-0238 DNA-binding
KW-0371 Homeobox
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR016233 Homeobox_Pitx/unc30
IPR003654 OAR_dom

PROSITE

PROSITE ID PROSITE Term
PS00027 HOMEOBOX_1
PS50071 HOMEOBOX_2
PS50803 OAR

Pfam

Pfam ID Pfam Term
PF00046 Homeodomain
PF03826 OAR