Gene Gene information from NCBI Gene database.
Entrez ID 57326
Gene name PBX homeobox interacting protein 1
Gene symbol PBXIP1
Synonyms (NCBI Gene)
HPIP
Chromosome 1
Chromosome location 1q21.3
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
miRNA miRNA information provided by mirtarbase database.
320
miRTarBase ID miRNA Experiments Reference
MIRT017972 hsa-miR-335-5p Microarray 18185580
MIRT019795 hsa-miR-375 Microarray 20215506
MIRT020198 hsa-miR-130b-3p Sequencing 20371350
MIRT026000 hsa-miR-148a-3p Sequencing 20371350
MIRT028003 hsa-miR-93-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
CTCF Unknown 22187427
CTCF Unknown 22187427
GATA1 Unknown 22187427
GATA1 Unknown 22187427
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IEA
GO:0002532 Process Production of molecular mediator involved in inflammatory response IEA
GO:0003712 Function Transcription coregulator activity IBA
GO:0003713 Function Transcription coactivator activity IEA
GO:0003714 Function Transcription corepressor activity IDA 10825160
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618819 21199 ENSG00000163346
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AQ6
Protein name Pre-B-cell leukemia transcription factor-interacting protein 1 (Hematopoietic PBX-interacting protein)
Protein 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 t
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in early hematopoietic precursors. {ECO:0000269|PubMed:10825160}.
Sequence
MASCPDSDNSWVLAGSESLPVETLGPASRMDPESERALQAPHSPSKTDGKELAGTMDGEG
TLFQTESPQSGSILTEETEVKGTLEGDVCGVEPPGPGDTVVQGDLQETTVVTGLGPDTQD
LEGQSPPQSLPSTPKAAWIREEGRCSSSDDDTDVDMEGLRRRRGREAGPPQPMVPLAVEN
QAGGEGAGGELGISLNMCLLGALVLLGLGVLLFSGGLSESETGPMEEVERQVLPDPEVLE
AVGDRQDGLREQLQAPVPPDSVPSLQNMGLLLDKLAKENQDIRLLQAQLQAQKEELQSLM
HQPKGLEEENAQLRGALQQGEAFQRALESELQQLRARLQGLEADCVRGPDGVCLSGGRGP
QGDKAIREQGPREQEPELSFLKQKEQLEAEAQALRQELERQRRLLGSVQQDLERSLQDAS
RGDPAHAGLAELGHRLAQKLQGLENWGQDPGVSANASKAWHQKSHFQNSREWSGKEKWWD
GQRDRKAEHWKHKKEESGRERKKNWGGQEDREPAGRWKEGRPRVEESGSKKEGKRQGPKE
PPRKSGSFHSSGEKQKQPRWREGTKDSHDPLPSWAELLRPKYRAPQGCSGVDECARQEGL
TFFGTELAPVRQQELASLLRTYLARLPWAGQLTKELPLSPAFFGEDGIFRHDRLRFRDFV
DALEDSLEEVAVQQTGDDDEVDDFEDFIFSHFFGDKALKKRSGKKDKHSQSPRAAGPREG
HSHSHHHHHRG
Sequence length 731
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARDIAC EMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 26497366
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 36776048
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Associate 23593351
★☆☆☆☆
Found in Text Mining only
Astrocytoma Stimulate 24470547
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 37294756
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 28975986
★☆☆☆☆
Found in Text Mining only
Chromosome Aberrations Associate 31101654
★☆☆☆☆
Found in Text Mining only
Death Associate 26497366
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 31241209
★☆☆☆☆
Found in Text Mining only
Ependymoma Stimulate 24470547
★☆☆☆☆
Found in Text Mining only