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

    Gene ID: 5307, updated on 8-Oct-2017
    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; Vega:OTTHUMG00000149983
    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]
    Orthologs
    Location:
    5q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (135027734..135034274, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134363424..134369964, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cation channel sperm associated 3 Neighboring gene uncharacterized LOC107986452 Neighboring gene C5orf66 antisense RNA 1 Neighboring gene chromosome 5 open reading frame 66 Neighboring gene uncharacterized LOC105379188

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Liebenberg syndrome
    MedGen: C1861313 OMIM: 186550 GeneReviews: Not available
    Compare labs
    Talipes equinovarus
    MedGen: C0009081 OMIM: 119800 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    branchiomeric skeletal muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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
      5001..11541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002653.4NP_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
      P78337
      UniProtKB/TrEMBL
      X5D9A5
      Related
      ENSP00000265340.6, OTTHUMP00000159412, ENST00000265340.11, OTTHUMT00000251195
      Conserved Domains (4) summary
      pfam00046
      Location:93145
      Homeobox; Homeobox domain
      pfam03826
      Location:276293
      OAR; OAR domain
      pfam08430
      Location:195274
      Forkhead_N; Forkhead N-terminal region
      cl27820
      Location:36146
      Abdominal-A; Homeobox protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      135027734..135034274 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      133796087..133802610 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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