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    PBX1 PBX homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 5087, updated on 8-Apr-2018
    Official Symbol
    PBX1provided by HGNC
    Official Full Name
    PBX homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:8632
    See related
    Ensembl:ENSG00000185630 MIM:176310; Vega:OTTHUMG00000034307
    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
    CAKUHED
    Summary
    This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
    Expression
    Ubiquitous expression in endometrium (RPKM 55.3), gall bladder (RPKM 19.2) and 22 other tissues See more
    Orthologs
    Location:
    1q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (164559360..164886047)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (164528597..164821067)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U5F small nuclear 6, pseudogene Neighboring gene high mobility group box 3 pseudogene 6 Neighboring gene VISTA enhancer hs1202 Neighboring gene VISTA enhancer hs1235 Neighboring gene RNA, U6 small nuclear 171, pseudogene Neighboring gene VISTA enhancer hs1144 Neighboring gene PBX1 intron CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC100505795 Neighboring gene VISTA enhancer hs1191 Neighboring gene uncharacterized LOC107985451 Neighboring gene ribosomal protein L35a pseudogene 7

    • 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
    CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
    MedGen: CN417140 OMIM: 617641 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    NHGRI GWA Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    NHGRI GWA Catalog
    Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ36189, MGC126627, DKFZp686B09108

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    adrenal gland development IEA
    Inferred from Electronic Annotation
    more info
     
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    branching involved in ureteric bud morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription of Notch receptor target TAS
    Traceable Author Statement
    more info
     
    proximal/distal pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    sex differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell population maintenance TAS
    Traceable Author Statement
    more info
     
    spleen development IEA
    Inferred from Electronic Annotation
    more info
     
    steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    RNA polymerase II transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    pre-B-cell leukemia transcription factor 1
    Names
    homeobox protein PBX1
    homeobox protein PRL
    pre-B-cell leukemia homeobox 1

    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_028246.2 RefSeqGene

      Range
      5001..297471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204961.1NP_001191890.1  pre-B-cell leukemia transcription factor 1 isoform 2

      See identical proteins and their annotated locations for NP_001191890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing an internal coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (2, also known as isoform PBX1b) with a distinct C-terminus compared to isoform 1. Variants 2 and 5 encode the same isoform.
      Source sequence(s)
      AK022962, AK291415, AL049381, AL359255, AL390119, BC143451, BX647313, DA483403, DA760179, DB270853
      Consensus CDS
      CCDS55654.1
      UniProtKB/TrEMBL
      A8K5V0, Q53YC7
      Related
      ENSP00000356872.1, OTTHUMP00000032205, ENST00000367897.5, OTTHUMT00000082860
      Conserved Domains (2) summary
      cd00086
      Location:234294
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40232
      PBC; PBC domain
    2. NM_001204963.1NP_001191892.1  pre-B-cell leukemia transcription factor 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1. This results in a frame-shift and a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK299673, AL049381, AL359255, AL390119, BC101578, DA760179, DB270853
      Consensus CDS
      CCDS55653.1
      UniProtKB/Swiss-Prot
      P40424
      Related
      ENSP00000485692.1, OTTHUMP00000279372, ENST00000627490.2, OTTHUMT00000484415
      Conserved Domains (2) summary
      cd00086
      Location:234294
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40232
      PBC; PBC domain
    3. NM_001353130.1NP_001340059.1  pre-B-cell leukemia transcription factor 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK291415, AL359255, AL390119, BC143435
      Related
      ENSP00000439943.2, ENST00000540236.3
      Conserved Domains (2) summary
      cd00086
      Location:151211
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:6149
      PBC; PBC domain
    4. NM_001353131.1NP_001340060.1  pre-B-cell leukemia transcription factor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 3' terminal exon and lacks an exon in the 3' coding region, compared to variant 1. This results in a frame-shift and a shorter isoform (2, also known as isoform PBX1b) with a distinct C-terminus compared to isoform 1. Variants 2 and 5 encode the same isoform.
      Source sequence(s)
      AL357568, AL359255, AL390119
      Conserved Domains (2) summary
      cd00086
      Location:234294
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40232
      PBC; PBC domain
    5. NM_002585.3NP_002576.1  pre-B-cell leukemia transcription factor 1 isoform 1

      See identical proteins and their annotated locations for NP_002576.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (1, also known as isoform PBX1a).
      Source sequence(s)
      AK022962, AK291415, AL049381, AL359255, AL390119, BC101578, BX647313, DA483403, DA760179, DB270853
      Consensus CDS
      CCDS1246.1
      UniProtKB/Swiss-Prot
      P40424
      UniProtKB/TrEMBL
      A0A024R919, A8K5V0
      Related
      ENSP00000405890.1, OTTHUMP00000032206, ENST00000420696.6, OTTHUMT00000082864
      Conserved Domains (2) summary
      cd00086
      Location:234294
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40232
      PBC; PBC domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      164559360..164886047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509590.2XP_011507892.1  pre-B-cell leukemia transcription factor 1 isoform X2

      See identical proteins and their annotated locations for XP_011507892.1

      Conserved Domains (2) summary
      cd00086
      Location:290350
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40288
      PBC; PBC domain
    2. XM_011509592.2XP_011507894.1  pre-B-cell leukemia transcription factor 1 isoform X5

      See identical proteins and their annotated locations for XP_011507894.1

      Conserved Domains (2) summary
      cd00086
      Location:290350
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40288
      PBC; PBC domain
    3. XM_017001395.2XP_016856884.1  pre-B-cell leukemia transcription factor 1 isoform X4

      Conserved Domains (2) summary
      cd00086
      Location:234294
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40232
      PBC; PBC domain
    4. XM_005245228.3XP_005245285.1  pre-B-cell leukemia transcription factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005245285.1

      Conserved Domains (2) summary
      cd00086
      Location:290350
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40288
      PBC; PBC domain
    5. XM_011509591.2XP_011507893.1  pre-B-cell leukemia transcription factor 1 isoform X5

      See identical proteins and their annotated locations for XP_011507893.1

      Conserved Domains (2) summary
      cd00086
      Location:290350
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40288
      PBC; PBC domain
    6. XM_005245229.3XP_005245286.1  pre-B-cell leukemia transcription factor 1 isoform X3

      See identical proteins and their annotated locations for XP_005245286.1

      UniProtKB/Swiss-Prot
      P40424
      UniProtKB/TrEMBL
      A0A024R919
      Conserved Domains (2) summary
      cd00086
      Location:234294
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam03792
      Location:40232
      PBC; PBC domain
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