PITX1

PITX1
Identifiers
Aliases	PITX1, BFT, CCF, LBNBG, POTX, PTX1, paired like homeodomain 1
External IDs	MGI: 107374 HomoloGene: 20584 GeneCards: PITX1
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • RNA polymerase II transcription factor binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II transcription factor binding • protein binding • transcription factor activity, sequence-specific DNA binding Cellular component • cytoplasm • transcription factor complex • nucleolus • nucleus Biological process • skeletal system development • pituitary gland development • regulation of transcription, DNA-templated • anatomical structure morphogenesis • transcription from RNA polymerase II promoter • hindlimb morphogenesis • transcription, DNA-templated • multicellular organism development • cartilage development • myoblast fate commitment • negative regulation of transcription, DNA-templated • branchiomeric skeletal muscle development • positive regulation of transcription from RNA polymerase II promoter • embryonic hindlimb morphogenesis Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	5307	18740
Ensembl	ENSG00000069011	ENSMUSG00000021506
UniProt	P78337	P70314
RefSeq (mRNA)	NM_002653	NM_011097
RefSeq (protein)	NP_002644	NP_035227.1 NP_035227
Location (UCSC)	Chr 5: 135.03 – 135.03 Mb	Chr 13: 55.83 – 55.84 Mb
PubMed search

5307

18740

ENSG00000069011

ENSMUSG00000021506

P78337

P70314

NM_002653

NM_011097

NP_002644

NP_035227.1
NP_035227

paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.

Mutations in this gene have been associated with autism and polydactyly in humans.

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.

PITX1 has been shown to interact with Pituitary-specific positive transcription factor 1.

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Wikipedia