Human Gene ITGB3BP (ENST00000271002.15_10) from GENCODE V47lift37
  Description: integrin subunit beta 3 binding protein, transcript variant 2 (from RefSeq NM_014288.5)
Gencode Transcript: ENST00000271002.15_10
Gencode Gene: ENSG00000142856.18_13
Transcript (Including UTRs)
   Position: hg19 chr1:63,906,441-63,988,896 Size: 82,456 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr1:63,912,478-63,988,804 Size: 76,327 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:63,906,441-63,988,896)mRNA (may differ from genome)Protein (177 aa)
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CENPR_HUMAN
DESCRIPTION: RecName: Full=Centromere protein R; Short=CENP-R; AltName: Full=Beta-3-endonexin; AltName: Full=Integrin beta-3-binding protein; AltName: Full=Nuclear receptor-interacting factor 3;
FUNCTION: Transcription coregulator that can have both coactivator and corepressor functions. Isoform 1, but not other isoforms, is involved in the coactivation of nuclear receptors for retinoid X (RXRs) and thyroid hormone (TRs) in a ligand-dependent fashion. In contrast, it does not coactivate nuclear receptors for retinoic acid, vitamin D, progesterone receptor, nor glucocorticoid. Acts as a coactivator for estrogen receptor alpha. Acts as a transcriptional corepressor via its interaction with the NFKB1 NF- kappa-B subunit, possibly by interfering with the transactivation domain of NFKB1. Induces apoptosis in breast cancer cells, but not in other cancer cells, via a caspase-2 mediated pathway that involves mitochondrial membrane permeabilization but does not require other caspases. May also act as an inhibitor of cyclin A- associated kinase. Also acts a component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.
SUBUNIT: Homodimer; mediated by the coiled coil domain. Isoform 3, but not other isoforms, interacts with the cytoplasmic tail of integrin ITGB3. The relevance of the interaction with ITGB3 is however uncertain, since isoform 3 is mainly nuclear. Interacts with CCNA2 and MTA1. Interacts with NFKB1 NF-kappa-B subunit. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU.
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore.
SUBCELLULAR LOCATION: Isoform 2: Nucleus.
SUBCELLULAR LOCATION: Isoform 3: Nucleus. Cytoplasm. Note=Isoform 3 is predominantly nuclear and weakly cytoplasmic.
SUBCELLULAR LOCATION: Isoform 4: Cytoplasm.
TISSUE SPECIFICITY: Widely expressed. Expressed in spleen, thymus, prostate, ovary, small intestine and white blood cells. Highly expressed in testis and colon. Isoform 4 is expressed in platelets, lymphocytes and granulocytes.
INDUCTION: By estrogen.
DOMAIN: The DD1 domain (also called RepD1 domain) mediates the corepressor function and is essential in the triggering of apoptosis.
DOMAIN: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, a motif known to be important for the association with nuclear receptors. Such motif, which is required for an efficient association with nuclear receptors, is however not essential.
DOMAIN: Contains one Leu-Xaa-Xaa-Ile-Leu (LXXIL) motif, which is essential for the association with nuclear receptors.
SEQUENCE CAUTION: Sequence=AAH14385.1; Type=Erroneous initiation;

-  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: ITGB3BP
Diseases sorted by gene-association score: breast cancer (2)

-  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: 6.40 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 86.49 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 -22.5092-0.245 Picture PostScript Text
3' UTR -69.50335-0.207 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
  InterPro Domains: Graphical view of domain structure
IPR009601 - NRIF3_coact_rcpt

Pfam Domains:
PF06729 - Kinetochore component, CENP-R

ModBase Predicted Comparative 3D Structure on Q13352
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0034080 CENP-A containing nucleosome assembly
GO:0043065 positive regulation of apoptotic process
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC009929 - Homo sapiens integrin beta 3 binding protein (beta3-endonexin), mRNA (cDNA clone MGC:796 IMAGE:3505579), complete cds.
BC014385 - Homo sapiens integrin beta 3 binding protein (beta3-endonexin), mRNA (cDNA clone MGC:24383 IMAGE:4064625), complete cds.
AF175306 - Homo sapiens nuclear receptor co-activator NRIF3 (NRIF3) mRNA, alternatively spliced, complete cds.
U37139 - Homo sapiens beta 3-endonexin long form mRNA, complete cds, alternatively spliced.
AK312944 - Homo sapiens cDNA, FLJ93397, Homo sapiens integrin beta 3 binding protein (beta3-endonexin)(ITGB3BP), mRNA.
KJ893369 - Synthetic construct Homo sapiens clone ccsbBroadEn_02763 ITGB3BP gene, encodes complete protein.
AB528591 - Synthetic construct DNA, clone: pF1KB7575, Homo sapiens ITGB3BP gene for integrin beta 3 binding protein, without stop codon, in Flexi system.
AK309622 - Homo sapiens cDNA, FLJ99663.
DM110836 - Novel Cancer Marker and Use Thereof.
JD350413 - Sequence 331437 from Patent EP1572962.
JD543649 - Sequence 524673 from Patent EP1572962.
JD353535 - Sequence 334559 from Patent EP1572962.
KJ906090 - Synthetic construct Homo sapiens clone ccsbBroadEn_15760 ITGB3BP gene, encodes complete protein.
JD020248 - Sequence 1272 from Patent EP1572962.
JD034517 - Sequence 15541 from Patent EP1572962.
JD034446 - Sequence 15470 from Patent EP1572962.
JD020244 - Sequence 1268 from Patent EP1572962.
JD347302 - Sequence 328326 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13352 (Reactome details) participates in the following event(s):

R-HSA-193677 NRIF binds to p75NTR
R-HSA-205118 TRAF6 polyubiquitinates NRIF
R-HSA-205112 gamma-secretase cleaves p75NTR, releasing NRIF and TRAF6
R-HSA-204947 Polyubiquitinated NRIF migrates to the nucleus
R-HSA-205008 Polyubiquitinated NRIF binds to p62 (Sequestosome)
R-HSA-193669 TRAF6 binds to p75NTR:NRIF
R-HSA-606349 Mis18 complex binds the centromere
R-HSA-606326 HJURP:CENPA complex localizes to the centromere
R-HSA-204949 NRIF and TRAF6 may activate JNK
R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-205043 NRIF signals cell death from the nucleus
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-606279 Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-774815 Nucleosome assembly
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-73887 Death Receptor Signalling
R-HSA-73886 Chromosome Maintenance
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-162582 Signal Transduction
R-HSA-1640170 Cell Cycle
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7D8, CENPR, CENPR_HUMAN, ENST00000271002.1, ENST00000271002.10, ENST00000271002.11, ENST00000271002.12, ENST00000271002.13, ENST00000271002.14, ENST00000271002.2, ENST00000271002.3, ENST00000271002.4, ENST00000271002.5, ENST00000271002.6, ENST00000271002.7, ENST00000271002.8, ENST00000271002.9, NM_014288, NRIF3, Q13352, Q13353, Q5RJ42, Q5RJ44, Q5RJ45, Q7KYX2, Q96CD5, Q9UKB6, uc317ivl.1, uc317ivl.2
UCSC ID: ENST00000271002.15_10
RefSeq Accession: NM_014288.5
Protein: Q13352 (aka CENPR_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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