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    PITX1 paired like homeodomain 1 [ Homo sapiens (human) ]

    Gene ID: 5307, updated on 19-May-2024

    Summary

    Official Symbol
    PITX1provided by HGNC
    Official Full Name
    paired like homeodomain 1provided by HGNC
    Primary source
    HGNC:HGNC:9004
    See related
    Ensembl:ENSG00000069011 MIM:602149; AllianceGenome:HGNC:9004
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BFT; CCF; POTX; PTX1; LBNBG
    Summary
    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. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 52.6), salivary gland (RPKM 12.7) and 6 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PITX1 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (135027734..135034789, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135554747..135561804, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134363424..134369918, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 Neighboring gene MT-ND3 pseudogene 25 Neighboring gene NANOG hESC enhancer GRCh37_chr5:134312555-134313067 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:134325851-134326415 Neighboring gene cation channel sperm associated 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:134360625-134361824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134362037-134362626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134362736-134363421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134364793-134365477 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:134367424-134367631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:134368802-134369434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134384389-134384989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134386169-134386753 Neighboring gene PITX1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134401324-134402015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134403398-134404087 Neighboring gene esophagus epithelial intergenic associated transcript Neighboring gene uncharacterized LOC124901072 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134470142-134471024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:134471025-134471907

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Clubfoot
    MedGen: C0009081 OMIM: 119800 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in branchiomeric skeletal muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pituitary homeobox 1
    Names
    hindlimb expressed homeobox protein backfoot
    homeobox protein PITX1
    paired-like homeodomain transcription factor 1
    pituitary homeo box 1
    pituitary otx-related factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012114.1 RefSeqGene

      Range
      5047..11541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002653.5NP_002644.4  pituitary homeobox 1

      See identical proteins and their annotated locations for NP_002644.4

      Status: REVIEWED

      Source sequence(s)
      AC008406, BC009412, BX362641
      Consensus CDS
      CCDS4182.1
      UniProtKB/Swiss-Prot
      A8K3M0, D3DQB0, O14677, O60425, P78337, Q9BTI5
      UniProtKB/TrEMBL
      X5D9A5
      Related
      ENSP00000265340.6, ENST00000265340.12
      Conserved Domains (3) summary
      COG5576
      Location:36146
      COG5576; Homeodomain-containing transcription factor [Transcription]
      pfam00046
      Location:93146
      Homeobox; Homeobox domain
      pfam03826
      Location:276293
      OAR; OAR domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      135027734..135034789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417318.1XP_047273274.1  pituitary homeobox 1 isoform X1

    2. XM_047417319.1XP_047273275.1  pituitary homeobox 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      135554747..135561804 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352830.1XP_054208805.1  pituitary homeobox 1 isoform X1