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PTTG1IP (pituitary tumor-transforming 1 interacting protein)

Written2008-01Vicki Smith, Chris McCabe
Division of Medical Sciences, 2nd Floor IBR, University of Birmingham, Edgbaston, Birmingham B12 5TT, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_namesC21orf3
C21orf1
Alias_symbol (synonym)PBF
Other alias
HGNC (Hugo) PTTG1IP
LocusID (NCBI) 754
Atlas_Id 41944
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 46269500 and ends at 46293818 bp from pter ( according to hg19-Feb_2009)  [Mapping PTTG1IP.png]
 
Fusion genes
(updated 2016)
AVL9 (7p14.3) / PTTG1IP (21q22.3)PTTG1IP (21q22.3) / CES2 (16q22.1)PTTG1IP (21q22.3) / CLDN4 (7q11.23)
PTTG1IP (21q22.3) / CNIH4 (1q42.11)PTTG1IP (21q22.3) / DIP2C (10p15.3)PTTG1IP (21q22.3) / GEMIN2 (14q21.1)
PTTG1IP (21q22.3) / MRPL33 (2p23.2)PTTG1IP (21q22.3) / NCOA6 (20q11.22)PTTG1IP (21q22.3) / PLP1 (Xq22.2)
PTTG1IP (21q22.3) / PTTG1IP (21q22.3)PTTG1IP (21q22.3) / SIM2 (21q22.13)

DNA/RNA

 
Description The PTTG1IP gene consists of 6 exons and spans 24.23 kb of genomic sequence on chromosome 21 (from position 45,093,941 bp to 45,118,169 bp in the reverse strand orientation).
Transcription The mRNA transcribed from this gene is 2,736 nucleotides long.
Pseudogene No pseudogene has been described.

Protein

 
Description Identified through its interaction with pituitary tumor transforming 1 (PTTG), the PTTG1IP protein is 180 amino acids long with a molecular mass of approximately 25 kDa.
A putative signal peptide exists at the N-terminus (1-32). A domain of unknown function common to plexins, semaphorins and integrins (PSI) is located between residues 39-92. Adjacent to this is a putative transmembrane domain (95-122). A bipartite nuclear localisation signal (NLS) is located between amino acids 149 and 166. The C-terminal 30 amino acids of PTTG1IP contain the PTTG binding domain and a putative tyrosine-based sorting signal.
Potential post-translational modifications include putative phosphorlyation sites for cAMP- and cGMP-dependent kinase, protein kinase C and casein kinase II and five glycosylation sites for N-linked and O-linked oligosaccharides.
Expression PTTG1IP is widely expressed and has been identified in all tissues examined including spleen, thymus, prostate, testis, ovary, small intestine, colon, leukocytes, spinal cord, thyroid, pituitary, lymph node, trachea, adrenal gland and bone marrow.
Localisation A tagged PTTG1IP protein was located predominantly in the nucleus with partial expression also in the cytoplasm. Mutation of the NLS shifted PTTG1IP expression to a perinuclear and cytoplasm location. Other reports suggest that PTTG1IP is located predominantly in the cytoplasm.
Function PTTG expression is predominantly nuclear in the presence of PTTG1IP. However, in the absence of PTTG1IP or with the NLS mutant of PTTG1IP, PTTG is mainly cytoplasmic. Hence, PTTG1IP is thought to facilitate the translocation of PTTG into the nucleus.
Itself upregulated by PTTG, PTTG1IP is required for the ability of PTTG to transactivate basic fibroblast growth factor (FGF2).
PTTG1IP has a described role in repressing iodide uptake into thyroid cells via transcriptional regulation of the sodium iodide symporter.
In MC3T3-El cells, PTTG1IP is regulated by the transcription factor Runx2, implying a role in osteoblast differentiation.

Mutations

Note PTTG1IP has been sequenced in a series of thyroid tumours, but no mutations were evident. No mutations have been reported to date in any other studies.

Implicated in

Note
  
Entity Thyroid tumours
Disease Overexpression is observed in thyroid tumours compared to normal thyroid tissue.
Prognosis PTTG1IP overexpression was significantly associated with early thyroid tumour recurrence.
PTTG1IP can repress the expression of the sodium iodide transporter (NIS) and inhibit iodide uptake in in vitro models of the thyroid. NIS mRNA expression was inhibited by PTTG1IP via the NIS upstream enhancer (NUE). A poorer prognosis in thyroid tumours with increased PTTG1IP expression might be inferred, therefore, as a significant reduction of iodide uptake would reduce the efficacy of ablative radioiodine therapy.
Oncogenesis PTTG1IP transforms cells in vitro and is tumourigenic in vivo.
  
  
Entity Pituitary tumours
Disease PTTG1IP is overexpressed in pituitary tumours compared with normal pituitary tissue.
  

Bibliography

PTTG and PBF repress the human sodium iodide symporter.
Boelaert K, Smith VE, Stratford AL, Kogai T, Tannahill LA, Watkinson JC, Eggo MC, Franklyn JA, McCabe CJ
Oncogene. 2007 ; 26 (30) : 4344-4356.
PMID 17297475
 
A novel binding factor facilitates nuclear translocation and transcriptional activation function of the pituitary tumor-transforming gene product.
Chien W, Pei L
The Journal of biological chemistry. 2000 ; 275 (25) : 19422-19427.
PMID 10781616
 
Expression of pituitary tumour transforming gene (PTTG) and fibroblast growth factor-2 (FGF-2) in human pituitary adenomas: relationships to clinical tumour behaviour.
McCabe CJ, Khaira JS, Boelaert K, Heaney AP, Tannahill LA, Hussain S, Mitchell R, Olliff J, Sheppard MC, Franklyn JA, Gittoes NJ
Clinical endocrinology. 2003 ; 58 (2) : 141-150.
PMID 12580928
 
Identification of novel genes of the bone-specific transcription factor Runx2.
Stock M, Schäfer H, Fliegauf M, Otto F
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2004 ; 19 (6) : 959-972.
PMID 15190888
 
Pituitary tumor transforming gene binding factor: a novel transforming gene in thyroid tumorigenesis.
Stratford AL, Boelaert K, Tannahill LA, Kim DS, Warfield A, Eggo MC, Gittoes NJ, Young LS, Franklyn JA, McCabe CJ
The Journal of clinical endocrinology and metabolism. 2005 ; 90 (7) : 4341-4349.
PMID 15886233
 
Cloning of a novel human putative type Ia integral membrane protein mapping to 21q22.3.
Yaspo ML, Aaltonen J, Horelli-Kuitunen N, Peltonen L, Lehrach H
Genomics. 1998 ; 49 (1) : 133-136.
PMID 9570958
 

Citation

This paper should be referenced as such :
Smith, V ; McCabe, C
PTTG1IP (pituitary tumor-transforming 1 interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):385-386.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PTTG1IPID41944ch21q22.html


External links

Nomenclature
HGNC (Hugo)PTTG1IP   13524
Cards
AtlasPTTG1IPID41944ch21q22
Entrez_Gene (NCBI)PTTG1IP  754  pituitary tumor-transforming 1 interacting protein
AliasesC21orf1; C21orf3; PBF
GeneCards (Weizmann)PTTG1IP
Ensembl hg19 (Hinxton)ENSG00000183255 [Gene_View]  chr21:46269500-46293818 [Contig_View]  PTTG1IP [Vega]
Ensembl hg38 (Hinxton)ENSG00000183255 [Gene_View]  chr21:46269500-46293818 [Contig_View]  PTTG1IP [Vega]
ICGC DataPortalENSG00000183255
TCGA cBioPortalPTTG1IP
AceView (NCBI)PTTG1IP
Genatlas (Paris)PTTG1IP
WikiGenes754
SOURCE (Princeton)PTTG1IP
Genetics Home Reference (NIH)PTTG1IP
Genomic and cartography
GoldenPath hg19 (UCSC)PTTG1IP  -     chr21:46269500-46293818 -  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTTG1IP  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblPTTG1IP - 21q22.3 [CytoView hg19]  PTTG1IP - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIPTTG1IP [Mapview hg19]  PTTG1IP [Mapview hg38]
OMIM603784   
Gene and transcription
Genbank (Entrez)AF149785 AK094882 AK095586 AK290139 AK293318
RefSeq transcript (Entrez)NM_001286822 NM_004339
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_033966 NT_011512 NW_004929427
Consensus coding sequences : CCDS (NCBI)PTTG1IP
Cluster EST : UnigeneHs.474010 [ NCBI ]
CGAP (NCI)Hs.474010
Alternative Splicing GalleryENSG00000183255
Gene ExpressionPTTG1IP [ NCBI-GEO ]   PTTG1IP [ EBI - ARRAY_EXPRESS ]   PTTG1IP [ SEEK ]   PTTG1IP [ MEM ]
Gene Expression Viewer (FireBrowse)PTTG1IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)754
GTEX Portal (Tissue expression)PTTG1IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53801   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53801  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53801
Splice isoforms : SwissVarP53801
PhosPhoSitePlusP53801
Domains : Interpro (EBI)Plexin-like_fold   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PSI (SM00423)  
Conserved Domain (NCBI)PTTG1IP
DMDM Disease mutations754
Blocks (Seattle)PTTG1IP
SuperfamilyP53801
Human Protein AtlasENSG00000183255
Peptide AtlasP53801
HPRD04807
IPIIPI00023974   IPI00908407   IPI00911013   IPI00795434   IPI00794805   
Protein Interaction databases
DIP (DOE-UCLA)P53801
IntAct (EBI)P53801
FunCoupENSG00000183255
BioGRIDPTTG1IP
STRING (EMBL)PTTG1IP
ZODIACPTTG1IP
Ontologies - Pathways
QuickGOP53801
Ontology : AmiGOp53 binding  molecular_function  protein binding  nucleus  cytoplasm  protein import into nucleus  membrane  integral component of membrane  positive regulation of protein ubiquitination  negative regulation of DNA damage response, signal transduction by p53 class mediator  extracellular exosome  negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator  positive regulation of cellular protein catabolic process  
Ontology : EGO-EBIp53 binding  molecular_function  protein binding  nucleus  cytoplasm  protein import into nucleus  membrane  integral component of membrane  positive regulation of protein ubiquitination  negative regulation of DNA damage response, signal transduction by p53 class mediator  extracellular exosome  negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator  positive regulation of cellular protein catabolic process  
NDEx NetworkPTTG1IP
Atlas of Cancer Signalling NetworkPTTG1IP
Wikipedia pathwaysPTTG1IP
Orthology - Evolution
OrthoDB754
GeneTree (enSembl)ENSG00000183255
Phylogenetic Trees/Animal Genes : TreeFamPTTG1IP
HOVERGENP53801
HOGENOMP53801
Homologs : HomoloGenePTTG1IP
Homology/Alignments : Family Browser (UCSC)PTTG1IP
Gene fusions - Rearrangements
Fusion : MitelmanPTTG1IP/CLDN4 [21q22.3/7q11.23]  
Fusion : MitelmanPTTG1IP/SIM2 [21q22.3/21q22.13]  [t(21;21)(q22;q22)]  
Fusion: TCGAPTTG1IP 21q22.3 CLDN4 7q11.23 PRAD
Fusion: TCGAPTTG1IP 21q22.3 SIM2 21q22.13 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTTG1IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTTG1IP
dbVarPTTG1IP
ClinVarPTTG1IP
1000_GenomesPTTG1IP 
Exome Variant ServerPTTG1IP
ExAC (Exome Aggregation Consortium)PTTG1IP (select the gene name)
Genetic variants : HAPMAP754
Genomic Variants (DGV)PTTG1IP [DGVbeta]
DECIPHER (Syndromes)21:46269500-46293818  ENSG00000183255
CONAN: Copy Number AnalysisPTTG1IP 
Mutations
ICGC Data PortalPTTG1IP 
TCGA Data PortalPTTG1IP 
Broad Tumor PortalPTTG1IP
OASIS PortalPTTG1IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTTG1IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTTG1IP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTTG1IP
DgiDB (Drug Gene Interaction Database)PTTG1IP
DoCM (Curated mutations)PTTG1IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTTG1IP (select a term)
intoGenPTTG1IP
NCG5 (London)PTTG1IP
Cancer3DPTTG1IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603784   
Orphanet
MedgenPTTG1IP
Genetic Testing Registry PTTG1IP
NextProtP53801 [Medical]
TSGene754
GENETestsPTTG1IP
Huge Navigator PTTG1IP [HugePedia]
snp3D : Map Gene to Disease754
BioCentury BCIQPTTG1IP
ClinGenPTTG1IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD754
Chemical/Pharm GKB GenePA34034
Clinical trialPTTG1IP
Miscellaneous
canSAR (ICR)PTTG1IP (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTTG1IP
EVEXPTTG1IP
GoPubMedPTTG1IP
iHOPPTTG1IP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:47:56 CET 2017

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