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Pitx1 paired-like homeodomain transcription factor 1 [ Mus musculus (house mouse) ]

Gene ID: 18740, updated on 11-Apr-2024

Summary

Official Symbol
Pitx1provided by MGI
Official Full Name
paired-like homeodomain transcription factor 1provided by MGI
Primary source
MGI:MGI:107374
See related
Ensembl:ENSMUSG00000021506 AllianceGenome:MGI:107374
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Bft; Potx; Ptx1; P-OTX
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic hindlimb morphogenesis; negative regulation of transcription, DNA-templated; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within animal organ development; hindlimb morphogenesis; and myoblast fate commitment. Located in cytoplasm and nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; genitourinary system; and sensory organ. Used to study clubfoot. Human ortholog(s) of this gene implicated in clubfoot. Orthologous to human PITX1 (paired like homeodomain 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach adult (RPKM 95.5), bladder adult (RPKM 23.0) and 5 other tissues See more
Orthologs
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Genomic context

Location:
13 B1; 13 30.06 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (55972857..55984002, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (55825044..55836190, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 Neighboring gene RIKEN cDNA 4930451E10 gene Neighboring gene STARR-seq mESC enhancer starr_34625 Neighboring gene cation channel, sperm associated 3 Neighboring gene STARR-seq mESC enhancer starr_34626 Neighboring gene predicted gene, 31542 Neighboring gene predicted gene, 47072

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within branchiomeric skeletal muscle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cartilage development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic hindlimb morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in embryonic hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within hindlimb morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within hindlimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within myoblast fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within pituitary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pituitary homeobox 1
Names
hindlimb-expressed homeobox protein backfoot
homeobox protein P-OTX
homeobox protein PITX1
pituitary OTX-related factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_011097.2NP_035227.1  pituitary homeobox 1

    See identical proteins and their annotated locations for NP_035227.1

    Status: VALIDATED

    Source sequence(s)
    AC129780
    Consensus CDS
    CCDS26556.1
    UniProtKB/Swiss-Prot
    O54742, P70314, P70427
    UniProtKB/TrEMBL
    Q3UQH0
    Related
    ENSMUSP00000021968.6, ENSMUST00000021968.7
    Conserved Domains (3) summary
    pfam00046
    Location:94147
    Homeobox; Homeobox domain
    pfam03826
    Location:277294
    OAR; OAR domain
    pfam08430
    Location:196275
    Forkhead_N; Forkhead N-terminal region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    55972857..55984002 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006517157.5XP_006517220.1  pituitary homeobox 1 isoform X1

    See identical proteins and their annotated locations for XP_006517220.1

    UniProtKB/Swiss-Prot
    O54742, P70314, P70427
    UniProtKB/TrEMBL
    Q3UQH0
    Conserved Domains (3) summary
    pfam00046
    Location:94147
    Homeobox; Homeobox domain
    pfam03826
    Location:277294
    OAR; OAR domain
    pfam08430
    Location:196275
    Forkhead_N; Forkhead N-terminal region
  2. XM_006517158.5XP_006517221.1  pituitary homeobox 1 isoform X1

    See identical proteins and their annotated locations for XP_006517221.1

    UniProtKB/Swiss-Prot
    O54742, P70314, P70427
    UniProtKB/TrEMBL
    Q3UQH0
    Conserved Domains (3) summary
    pfam00046
    Location:94147
    Homeobox; Homeobox domain
    pfam03826
    Location:277294
    OAR; OAR domain
    pfam08430
    Location:196275
    Forkhead_N; Forkhead N-terminal region