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... See more...

Aliases for PBXIP1 Gene

Aliases for PBXIP1 Gene

  • PBX Homeobox Interacting Protein 1 2 3 5
  • HPIP 2 3 4
  • Pre-B-Cell Leukemia Transcription Factor-Interacting Protein 1 3 4
  • Pre-B-Cell Leukemia Homeobox Interacting Protein 1 2 3
  • Hematopoietic PBX-Interacting Protein 3 4
  • Pre-B-Cell Leukemia Transcription Factor Interacting Protein 1 2
  • PBXIP1 5

External Ids for PBXIP1 Gene

Previous GeneCards Identifiers for PBXIP1 Gene

  • GC01M151691
  • GC01M152133
  • GC01M151729
  • GC01M153183
  • GC01M154916
  • GC01M126278

Summaries for PBXIP1 Gene

Entrez Gene Summary for PBXIP1 Gene

  • 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]

GeneCards Summary for PBXIP1 Gene

PBXIP1 (PBX Homeobox Interacting Protein 1) is a Protein Coding gene. Diseases associated with PBXIP1 include Leukemia and Pediatric Ependymoma. Gene Ontology (GO) annotations related to this gene include transcription corepressor activity.

UniProtKB/Swiss-Prot Summary for PBXIP1 Gene

  • Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling.

Additional gene information for PBXIP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PBXIP1 Gene

Genomics for PBXIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PBXIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PBXIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PBXIP1

Top Transcription factor binding sites by QIAGEN in the PBXIP1 gene promoter:
  • AP-1
  • c-Myb
  • c-Rel
  • E47
  • HOXA5
  • p53
  • Pax-4a
  • STAT3

Genomic Locations for PBXIP1 Gene

Genomic Locations for PBXIP1 Gene
chr1:154,944,076-154,956,123
(GRCh38/hg38)
Size:
12,048 bases
Orientation:
Minus strand
chr1:154,916,552-154,928,599
(GRCh37/hg19)
Size:
12,048 bases
Orientation:
Minus strand

Genomic View for PBXIP1 Gene

Genes around PBXIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PBXIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PBXIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PBXIP1 Gene

Proteins for PBXIP1 Gene

  • Protein details for PBXIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AQ6-PBIP1_HUMAN
    Recommended name:
    Pre-B-cell leukemia transcription factor-interacting protein 1
    Protein Accession:
    Q96AQ6
    Secondary Accessions:
    • Q5T174
    • Q5T176
    • Q9H8X6
    • Q9HA02
    • Q9HD85

    Protein attributes for PBXIP1 Gene

    Size:
    731 amino acids
    Molecular mass:
    80643 Da
    Quaternary structure:
    • Interacts with TEX11 (By similarity). Interacts with ESR1, PBX1, PBX2 and PBX3.

    Alternative splice isoforms for PBXIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PBXIP1 Gene

Post-translational modifications for PBXIP1 Gene

  • Glycosylation at Asn455
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PBIP1_HUMAN (1622)

Other Protein References for PBXIP1 Gene

No data available for DME Specific Peptides for PBXIP1 Gene

Domains & Families for PBXIP1 Gene

Gene Families for PBXIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PBXIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PBXIP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58464, highly similar to Homo sapiens pre-B-cell leukemia transcription factor interacting protein 1 (PBXIP1), mRNA (B4E1J0_HUMAN)
  • Hematopoietic PBX-interacting protein (PBIP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96AQ6

UniProtKB/Swiss-Prot:

PBIP1_HUMAN :
  • The C-terminal domain (AA 443-731) contains a nuclear export signal.
Domain:
  • The C-terminal domain (AA 443-731) contains a nuclear export signal.
  • Association to the cytoskeleton through a N-terminal leucine rich-domain (AA 190-218).
genes like me logo Genes that share domains with PBXIP1: view

Function for PBXIP1 Gene

Molecular function for PBXIP1 Gene

UniProtKB/Swiss-Prot Function:
Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling.

Phenotypes From GWAS Catalog for PBXIP1 Gene

Gene Ontology (GO) - Molecular Function for PBXIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IEA,NAS 10825160
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with PBXIP1: view
genes like me logo Genes that share phenotypes with PBXIP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PBXIP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PBXIP1 Gene

Localization for PBXIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PBXIP1 Gene

Cytoplasm, cytoskeleton. Nucleus. Note=Shuttles between the nucleus and the cytosol (PubMed:12360403). Mainly localized in the cytoplasm, associated with microtubules (PubMed:10825160, PubMed:12360403). Detected in small amounts in the nucleus (PubMed:10825160).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PBXIP1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 1
endoplasmic reticulum 1
mitochondrion 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PBXIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10825160
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol NAS 10825160
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with PBXIP1: view

Pathways & Interactions for PBXIP1 Gene

PathCards logo

SuperPathways for PBXIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PBXIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development NAS 10825160
GO:0030154 cell differentiation IEA,NAS 10825160
GO:0045892 negative regulation of transcription, DNA-templated IEA,NAS 10825160
GO:2001106 regulation of Rho guanyl-nucleotide exchange factor activity IBA 21873635
genes like me logo Genes that share ontologies with PBXIP1: view

No data available for Pathways by source and SIGNOR curated interactions for PBXIP1 Gene

Drugs & Compounds for PBXIP1 Gene

No Compound Related Data Available

Transcripts for PBXIP1 Gene

mRNA/cDNA for PBXIP1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PBXIP1

Alternative Splicing Database (ASD) splice patterns (SP) for PBXIP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d ^ 8a ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - -
SP14: - - - - - - - -
SP15: - - - - - - -
SP16: - - - - - - -
SP17: - - - - - - - -
SP18: - - - - - - - - - - - - - - - - -
SP19: - - - - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - -
SP21: - - - - - - -
SP22: - - - - - - - - -
SP23: - - - -
SP24: - -
SP25: - - -
SP26: -

ExUns: 8b · 8c · 8d · 8e ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15
SP1: -
SP2: -
SP3: -
SP4: - - -
SP5: - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

Relevant External Links for PBXIP1 Gene

GeneLoc Exon Structure for
PBXIP1

Expression for PBXIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PBXIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PBXIP1 Gene

This gene is overexpressed in Nasal epithelium (22.3), Spinal cord (7.4), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PBXIP1 Gene



Protein tissue co-expression partners for PBXIP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PBXIP1

SOURCE GeneReport for Unigene cluster for PBXIP1 Gene:

Hs.505806

mRNA Expression by UniProt/SwissProt for PBXIP1 Gene:

Q96AQ6-PBIP1_HUMAN
Tissue specificity: Expressed in early hematopoietic precursors.

Evidence on tissue expression from TISSUES for PBXIP1 Gene

  • Nervous system(4.8)
  • Pancreas(4.6)
  • Liver(4.3)
  • Blood(2.5)
  • Lung(2.5)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with PBXIP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PBXIP1 Gene

Orthologs for PBXIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PBXIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PBXIP1 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PBXIP1 30 31
  • 84.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PBXIP1 30 31
  • 81.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pbxip1 30 17 31
  • 79.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pbxip1 30
  • 79.1 (n)
Oppossum
(Monodelphis domestica)
Mammalia PBXIP1 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PBXIP1 31
  • 45 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii PBXIP1 31
  • 21 (a)
OneToMany
Species where no ortholog for PBXIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PBXIP1 Gene

ENSEMBL:
Gene Tree for PBXIP1 (if available)
TreeFam:
Gene Tree for PBXIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PBXIP1: view image

Paralogs for PBXIP1 Gene

Pseudogenes.org Pseudogenes for PBXIP1 Gene

genes like me logo Genes that share paralogs with PBXIP1: view

No data available for Paralogs for PBXIP1 Gene

Variants for PBXIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PBXIP1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2061690 -. - p.Gly357Aspp.Gly356Asp

Additional dbSNP identifiers (rs#s) for PBXIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PBXIP1 Gene

Variant ID Type Subtype PubMed ID
esv2718374 CNV deletion 23290073
nsv509502 CNV insertion 20534489

Variation tolerance for PBXIP1 Gene

Residual Variation Intolerance Score: 84.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PBXIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PBXIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PBXIP1 Gene

Disorders for PBXIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PBXIP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leukemia
  • leukemias
pediatric ependymoma
  • childhood ependymoma
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PBXIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PBXIP1 Gene

Publications for PBXIP1 Gene

  1. Functional characterization of multiple domains involved in the subcellular localization of the hematopoietic Pbx interacting protein (HPIP). (PMID: 12360403) Abramovich C … Humphries RK (Oncogene 2002) 3 4 23
  2. Functional cloning and characterization of a novel nonhomeodomain protein that inhibits the binding of PBX1-HOX complexes to DNA. (PMID: 10825160) Abramovich C … Humphries RK (The Journal of biological chemistry 2000) 2 3 4
  3. The estrogen receptor-interacting protein HPIP increases estrogen-responsive gene expression through activation of MAPK and AKT. (PMID: 18302941) Wang X … Ye Q (Biochimica et biophysica acta 2008) 3 23
  4. An inherent role of microtubule network in the action of nuclear receptor. (PMID: 17043237) Manavathi B … Kumar R (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for PBXIP1 Gene

  • Signalway Proteins for PBXIP1

Sources for PBXIP1 Gene