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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover.
Title: HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover.
HPIP is overexpressed in pancreatic ductal adenocarcinoma tissue. Knockdown of HPIP promotes the apoptosis and inhibits the proliferation and G0/G1 to S transition of PDAC cells.
Title: [Effect of Hematopoietic Pre-B-cell Leukemia Transcription Factor Interacting Protein Knockdown on Proliferation,Cell Cycle and Apoptosis in Pancreatic Cancer Cells].
HPIP promotes gastric cancer cell proliferation through positive regulation of cap-dependent translation.
Title: HPIP promotes gastric cancer cell proliferation through activation of cap-dependent translation.
Knockdown of HPIP suppressed TGF-beta1-induced EMT.
Title: HPIP Silencing Prevents Epithelial-Mesenchymal Transition Induced by TGF-β1 in Human Ovarian Cancer Cells.
our findings identified HPIP plays an important role in the progression and EMT of spinal glioblastoma, by which cell growth is improved. Thus, HPIP gene or protein could act as a useful target in the clinical practice.
Title: The involvement of hematopoietic pre-B cell leukemia transcription factor-interacting protein in regulating epithelial-mesenchymal transition of human spinal glioblastoma.
Copy number variations in PBXIP1 gene is associated with lung adenocarcinoma.
Title: Identification of hallmarks of lung adenocarcinoma prognosis using whole genome sequencing.
HPIP may play critical role in oral carcinogenesis and is potential target for anticancer therapy, with particular emphasis on its involvement in differentiation and migration/metastasis.
Title: Potential role of hematopoietic pre-B-cell leukemia transcription factor-interacting protein in oral carcinogenesis.
PBXIP1 is a novel protein overexpressed in astrocytoma and ependymoma, involved in tumor cell proliferation and migration
Title: Pre-B-cell leukemia homeobox interacting protein 1 is overexpressed in astrocytoma and promotes tumor cell growth and migration.
These data highlight the important role of HPIP in liver cancer cell growth and suggest that HPIP may be a good target for liver cancer therapy.
Title: HPIP is upregulated in liver cancer and promotes hepatoma cell proliferation via activation of G2/M transition.
HPIP is a target of GATA1 and CTCF in erythroid cells and plays an important role in erythroid differentiation by modulating the PI3K/AKT pathway
Title: Functional regulation of pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1/HPIP) in erythroid differentiation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PBXIP1_8075 (e-PCR)
- UniSTS:467817

Cda0tg01 (e-PCR)
- UniSTS:44653

A002B11 (e-PCR)
- UniSTS:5238

STS-W05360 (e-PCR)
- UniSTS:61134

RH15903 (e-PCR)
- UniSTS:64483

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in articular cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix disassembly	IEA Inferred from Electronic Annotation more info
involved_in gene expression involved in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in hemopoiesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of chondrocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in production of molecular mediator involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001317734.2 → NP_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:242 → 313

DUF972; Protein of unknown function (DUF972)
NM_001317735.2 → NP_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:116 → 187

DUF972; Protein of unknown function (DUF972)
NM_020524.4 → NP_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:271 → 438

SMC_N; RecF/RecN/SMC N terminal domain