Human Gene PBXIP1 (ENST00000368463.8_13) from GENCODE V45lift37
  Description: Homo sapiens PBX homeobox interacting protein 1 (PBXIP1), transcript variant 1, mRNA. (from RefSeq NM_020524)
RefSeq Summary (NM_020524): 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].
Gencode Transcript: ENST00000368463.8_13
Gencode Gene: ENSG00000163346.17_15
Transcript (Including UTRs)
   Position: hg19 chr1:154,916,556-154,928,575 Size: 12,020 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr1:154,917,500-154,926,197 Size: 8,698 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,916,556-154,928,575)mRNA (may differ from genome)Protein (731 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PBIP1_HUMAN
DESCRIPTION: RecName: Full=Pre-B-cell leukemia transcription factor-interacting protein 1; AltName: Full=Hematopoietic PBX-interacting 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 to influence estrogen receptors-alpha signaling.
SUBUNIT: Interacts with TEX11 (By similarity). Interacts with ESR1, PBX1, PBX2 and PBX3.
INTERACTION: Q96AQ6; P49069: CAMLG; NbExp=3; IntAct=EBI-740845, EBI-1748958; Q96AQ6; P24863: CCNC; NbExp=3; IntAct=EBI-740845, EBI-395261; Q96AQ6; Q9UER7: DAXX; NbExp=3; IntAct=EBI-740845, EBI-77321; Q96AQ6; Q9H4E7: DEF6; NbExp=3; IntAct=EBI-740845, EBI-745369; Q96AQ6; Q53SE7: FLJ13057; NbExp=3; IntAct=EBI-740845, EBI-10172181; Q96AQ6; Q9H0R8: GABARAPL1; NbExp=3; IntAct=EBI-740845, EBI-746969; Q96AQ6; Q96IK5: GMCL1; NbExp=5; IntAct=EBI-740845, EBI-2548508; Q96AQ6; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-740845, EBI-12012928; Q96AQ6; O95447: LCA5L; NbExp=3; IntAct=EBI-740845, EBI-8473670; Q96AQ6; Q99750: MDFI; NbExp=4; IntAct=EBI-740845, EBI-724076; Q96AQ6; Q9UBU8: MORF4L1; NbExp=3; IntAct=EBI-740845, EBI-399246; Q96AQ6; Q9UBU8-2: MORF4L1; NbExp=3; IntAct=EBI-740845, EBI-10288852; Q96AQ6; Q8NI37: PPTC7; NbExp=3; IntAct=EBI-740845, EBI-9089276; Q96AQ6; O43765: SGTA; NbExp=4; IntAct=EBI-740845, EBI-347996; Q96AQ6; Q9UMX0-2: UBQLN1; NbExp=3; IntAct=EBI-740845, EBI-10173939; Q96AQ6; Q9Y3C0: WASHC3; NbExp=4; IntAct=EBI-740845, EBI-712969; Q96AQ6-1; P03372: ESR1; NbExp=3; IntAct=EBI-15606280, EBI-78473; Q96AQ6-1; P03372-1: ESR1; NbExp=5; IntAct=EBI-15606280, EBI-15606245;
SUBCELLULAR LOCATION: 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).
TISSUE SPECIFICITY: Expressed in early hematopoietic precursors.
DOMAIN: The C-terminal domain (AA 443-731) contains a nuclear export signal.
DOMAIN: Association to the cytoskeleton through a N-terminal leucine rich-domain (AA 190-218).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PBXIP1
Diseases sorted by gene-association score: leukemia (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 132.09 RPKM in Pituitary
Total median expression: 2531.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.3067-0.333 Picture PostScript Text
3' UTR -338.14944-0.358 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q96AQ6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0005515 protein binding

Biological Process:
GO:0007275 multicellular organism development
GO:0030154 cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:2001106 regulation of Rho guanyl-nucleotide exchange factor activity

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  LF206189 - JP 2014500723-A/13692: Polycomb-Associated Non-Coding RNAs.
AK022497 - Homo sapiens cDNA FLJ12435 fis, clone NT2RM1000059.
BC016852 - Homo sapiens pre-B-cell leukemia homeobox interacting protein 1, mRNA (cDNA clone MGC:16853 IMAGE:3900461), complete cds.
AK023219 - Homo sapiens cDNA FLJ13157 fis, clone NT2RP3003543.
AK303863 - Homo sapiens cDNA FLJ58464 complete cds, highly similar to Homo sapiens pre-B-cell leukemia transcription factor interacting protein 1 (PBXIP1), mRNA.
AK300987 - Homo sapiens cDNA FLJ58285 complete cds, highly similar to Homo sapiens pre-B-cell leukemia transcription factor interacting protein 1 (PBXIP1), mRNA.
AF221521 - Homo sapiens hematopoietic PBX-interacting protein mRNA, complete cds.
AK303413 - Homo sapiens cDNA FLJ58659 complete cds, highly similar to Homo sapiens pre-B-cell leukemia transcription factor interacting protein 1 (PBXIP1), mRNA.
AK315551 - Homo sapiens cDNA, FLJ96621.
AK300544 - Homo sapiens cDNA FLJ57088 complete cds, highly similar to Homo sapiens pre-B-cell leukemia transcription factor interacting protein 1 (PBXIP1), mRNA.
AK310712 - Homo sapiens cDNA, FLJ17754.
AK310388 - Homo sapiens cDNA, FLJ17430.
MA441766 - JP 2018138019-A/13692: Polycomb-Associated Non-Coding RNAs.
JD245993 - Sequence 227017 from Patent EP1572962.
JD181272 - Sequence 162296 from Patent EP1572962.
JD437120 - Sequence 418144 from Patent EP1572962.
JD293602 - Sequence 274626 from Patent EP1572962.
JD437724 - Sequence 418748 from Patent EP1572962.
JD321870 - Sequence 302894 from Patent EP1572962.
JD164632 - Sequence 145656 from Patent EP1572962.
JD155343 - Sequence 136367 from Patent EP1572962.
JD548812 - Sequence 529836 from Patent EP1572962.
JD283053 - Sequence 264077 from Patent EP1572962.
U00952 - Human clone A9A2BRB7 (CAC)n/(GTG)n repeat-containing mRNA.
JD459264 - Sequence 440288 from Patent EP1572962.
JD513315 - Sequence 494339 from Patent EP1572962.
JD195553 - Sequence 176577 from Patent EP1572962.
JD366022 - Sequence 347046 from Patent EP1572962.
KJ894418 - Synthetic construct Homo sapiens clone ccsbBroadEn_03812 PBXIP1 gene, encodes complete protein.
EU446600 - Synthetic construct Homo sapiens clone IMAGE:100070184; IMAGE:100011809; FLH257361.01L pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1) gene, encodes complete protein.
AB385237 - Synthetic construct DNA, clone: pF1KB9479, Homo sapiens PBXIP1 gene for pre-B-cell leukemia homeobox interacting protein 1, complete cds, without stop codon, in Flexi system.
LF352275 - JP 2014500723-A/159778: Polycomb-Associated Non-Coding RNAs.
LF352272 - JP 2014500723-A/159775: Polycomb-Associated Non-Coding RNAs.
LF352271 - JP 2014500723-A/159774: Polycomb-Associated Non-Coding RNAs.
JD020749 - Sequence 1773 from Patent EP1572962.
BC127909 - Homo sapiens cDNA clone IMAGE:40132872, partial cds.
BC127910 - Homo sapiens cDNA clone IMAGE:40132874, partial cds.
LF352270 - JP 2014500723-A/159773: Polycomb-Associated Non-Coding RNAs.
LF352268 - JP 2014500723-A/159771: Polycomb-Associated Non-Coding RNAs.
LF352267 - JP 2014500723-A/159770: Polycomb-Associated Non-Coding RNAs.
LF352266 - JP 2014500723-A/159769: Polycomb-Associated Non-Coding RNAs.
LF352263 - JP 2014500723-A/159766: Polycomb-Associated Non-Coding RNAs.
CU677741 - Synthetic construct Homo sapiens gateway clone IMAGE:100017471 5' read PBXIP1 mRNA.
LF352262 - JP 2014500723-A/159765: Polycomb-Associated Non-Coding RNAs.
LF352261 - JP 2014500723-A/159764: Polycomb-Associated Non-Coding RNAs.
LF352260 - JP 2014500723-A/159763: Polycomb-Associated Non-Coding RNAs.
LF352259 - JP 2014500723-A/159762: Polycomb-Associated Non-Coding RNAs.
LF352258 - JP 2014500723-A/159761: Polycomb-Associated Non-Coding RNAs.
LF352253 - JP 2014500723-A/159756: Polycomb-Associated Non-Coding RNAs.
JD203369 - Sequence 184393 from Patent EP1572962.
MA587852 - JP 2018138019-A/159778: Polycomb-Associated Non-Coding RNAs.
MA587849 - JP 2018138019-A/159775: Polycomb-Associated Non-Coding RNAs.
MA587848 - JP 2018138019-A/159774: Polycomb-Associated Non-Coding RNAs.
MA587847 - JP 2018138019-A/159773: Polycomb-Associated Non-Coding RNAs.
MA587845 - JP 2018138019-A/159771: Polycomb-Associated Non-Coding RNAs.
MA587844 - JP 2018138019-A/159770: Polycomb-Associated Non-Coding RNAs.
MA587843 - JP 2018138019-A/159769: Polycomb-Associated Non-Coding RNAs.
MA587840 - JP 2018138019-A/159766: Polycomb-Associated Non-Coding RNAs.
MA587839 - JP 2018138019-A/159765: Polycomb-Associated Non-Coding RNAs.
MA587838 - JP 2018138019-A/159764: Polycomb-Associated Non-Coding RNAs.
MA587837 - JP 2018138019-A/159763: Polycomb-Associated Non-Coding RNAs.
MA587836 - JP 2018138019-A/159762: Polycomb-Associated Non-Coding RNAs.
MA587835 - JP 2018138019-A/159761: Polycomb-Associated Non-Coding RNAs.
MA587830 - JP 2018138019-A/159756: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000368463.1, ENST00000368463.2, ENST00000368463.3, ENST00000368463.4, ENST00000368463.5, ENST00000368463.6, ENST00000368463.7, HPIP, NM_020524, PBIP1_HUMAN, Q5T174, Q5T176, Q96AQ6, Q9H8X6, Q9HA02, Q9HD85, uc318guf.1
UCSC ID: ENST00000368463.8_13
RefSeq Accession: NM_020524
Protein: Q96AQ6 (aka PBIP1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.