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    PBXIP1 PBX homeobox interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 57326, updated on 10-Dec-2024

    Summary

    Official Symbol
    PBXIP1provided by HGNC
    Official Full Name
    PBX homeobox interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:21199
    See related
    Ensembl:ENSG00000163346 MIM:618819; AllianceGenome:HGNC:21199
    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
    HPIP
    Summary
    The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in ovary (RPKM 58.0), adrenal (RPKM 56.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PBXIP1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154944080..154956099, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154083441..154095460, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154916556..154928575, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154883471-154883971 Neighboring gene uncharacterized LOC105371449 Neighboring gene phosphomevalonate kinase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154908701-154909643 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154909644-154910585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154914379-154915254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154917055-154917556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154924461-154924960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154931761-154932260 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:154933865-154934605 and GRCh37_chr1:154934606-154935345 Neighboring gene pygopus family PHD finger 2 Neighboring gene PYGO2 and SHC1 antisense RNA 1 Neighboring gene SHC adaptor protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154942000-154942550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154942551-154943101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1798

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (27 hits/1277 screens)

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with PBXIP1; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Potential readthrough

    Included gene: PYGO2

    Potential readthrough

    Included gene: PMVK

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in chromatin  
    located_in cytosol PubMed 
    located_in microtubule  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    part_of transcription regulator complex  

    General protein information

    Preferred Names
    pre-B-cell leukemia transcription factor-interacting protein 1
    Names
    hematopoietic PBX-interacting protein
    pre-B-cell leukemia homeobox interacting protein 1

    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.

    mRNA and Protein(s)

    1. NM_001317734.2NP_001304663.1  pre-B-cell leukemia transcription factor-interacting protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate 5' exon and uses an alternate splice junction in another 5' exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK022497, BC016852
      Consensus CDS
      CCDS81382.1
      UniProtKB/TrEMBL
      B4E0K4
      Related
      ENSP00000357450.1, ENST00000368465.5
      Conserved Domains (1) summary
      pfam06156
      Location:242313
      DUF972; Protein of unknown function (DUF972)
    2. NM_001317735.2NP_001304664.1  pre-B-cell leukemia transcription factor-interacting protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate 5' exons and uses an alternate splice junction in another 5' exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK303413, BC016852
      UniProtKB/TrEMBL
      B4E0K4
      Conserved Domains (1) summary
      pfam06156
      Location:116187
      DUF972; Protein of unknown function (DUF972)
    3. NM_020524.4NP_065385.2  pre-B-cell leukemia transcription factor-interacting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_065385.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC016852, HY108652
      Consensus CDS
      CCDS1074.1
      UniProtKB/Swiss-Prot
      Q5T174, Q5T176, Q96AQ6, Q9H8X6, Q9HA02, Q9HD85
      Related
      ENSP00000357448.3, ENST00000368463.8
      Conserved Domains (1) summary
      cl25732
      Location:271438
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      154944080..154956099 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154083441..154095460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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