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

Gene ID: 57326, updated on 10-Oct-2019

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
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

Genomic context

See PBXIP1 in Genome Data Viewer
Location:
1q21.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154944080..154956099, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154916553..154928624, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371449 Neighboring gene phosphomevalonate kinase Neighboring gene uncharacterized LOC101928120 Neighboring gene pygopus family PHD finger 2 Neighboring gene SHC adaptor protein 1

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

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PYGO2

Potential readthrough

Included gene: PMVK

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
regulation of Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol NAS
Non-traceable Author Statement
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

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)

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/Swiss-Prot
    Q96AQ6
    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/Swiss-Prot
    Q96AQ6
    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
    Q96AQ6
    Related
    ENSP00000357448.3, ENST00000368463.8
    Conserved Domains (1) summary
    cl25732
    Location:271438
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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