PTTG1IP PTTG1 interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTTG1IPprovided by HGNC
Official Full Name: PTTG1 interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:13524
See related: Ensembl:ENSG00000183255 MIM:603784; AllianceGenome:HGNC:13524
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: PBF; C21orf1; C21orf3; PTTG1IP1
Summary: This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]
Expression: Ubiquitous expression in placenta (RPKM 104.1), gall bladder (RPKM 88.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44849598..44873690, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (43210435..43234444, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (46269513..46293605, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Sp4 Regulates PTTG1IP Gene Transcription and Expression.
Title: Sp4 Regulates PTTG1IP Gene Transcription and Expression.
CircPTTG1IP knockdown suppresses rheumatoid arthritis progression by targeting miR-431-5p/FSTL1 axis.
Title: CircPTTG1IP knockdown suppresses rheumatoid arthritis progression by targeting miR-431-5p/FSTL1 axis.
PTTG and PBF interact in head and neck squamous cell carcinoma to reduce p53 stability and function
Title: PTTG and PBF Functionally Interact with p53 and Predict Overall Survival in Head and Neck Cancer.
PBF is a novel AR target gene and plays a role in androgen-induced proliferation and metastatic functions
Title: Pituitary tumor transforming gene binding factor (PBF) is required for androgen-induced prostate cancer proliferation and invasion.
Nnegative pituitary tumor-transforming gene 1 protein-interacting protein (PTTG1IP) immunoexpression predicted a 1.5-fold risk of breast cancer death.
Title: PTTG1-interacting protein (PTTG1IP/PBF) predicts breast cancer survival.
data reveal new insight into PBF function and confirm that, rather than being oncogenic, mutations in PBF are likely to be passenger effects, with overexpression of PBF the more important etiological event in human cancer
Title: Functional consequences of the first reported mutations of the proto-oncogene PTTG1IP/PBF.
PTTG1IP and MAML3 are associated with BHR severity in adult asthma. The relevance of these genes is supported by the eQTL analyses and co-expression of PTTG1lP with vimentin and E-cadherin1, and MAML3 with MAML2.
Title: PTTG1IP and MAML3, novel genomewide association study genes for severity of hyperresponsiveness in adult asthma.
Findings indicate that PBF and PTTG have a critical role in promoting thyroid cancer that is predictive of poorer patient outcome.
Title: Elevated PTTG and PBF predicts poor patient outcome and modulates DNA damage response genes in thyroid cancer.
Unique role for PBF in regulating CTTN function to promote endocrine cell invasion and migration.
Title: Pro-invasive Effect of Proto-oncogene PBF Is Modulated by an Interaction with Cortactin.
these results demonstrate an emerging role for PBF in colorectal tumorigenesis through regulating p53 activity, with implications for PBF as a prognostic indicator for invasive tumors.
Title: The proto-oncogene PBF binds p53 and is associated with prognostic features in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-51796 (e-PCR)
- UniSTS:34335

D8S2279 (e-PCR)
- UniSTS:473907

G31032 (e-PCR)
- UniSTS:83520

D17S1287 (e-PCR)
- UniSTS:149830

WI-11321 (e-PCR)
- UniSTS:21842

RH77865 (e-PCR)
- UniSTS:71039

RH77710 (e-PCR)
- UniSTS:52629

D21S401 (e-PCR)
- UniSTS:147870

SHGC-52035 (e-PCR)
- UniSTS:43493

PMC310701P5 (e-PCR)
- UniSTS:272631

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
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

General protein information

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Preferred Names: pituitary tumor-transforming gene 1 protein-interacting protein

Names: PTTG-binding factor; pituitary tumor-transforming 1 interacting protein; pituitary tumor-transforming gene protein-binding factor

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.

Genomic

NG_033966.1 RefSeqGene

Range

5214..29306

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286822.2 → NP_001273751.1 pituitary tumor-transforming gene 1 protein-interacting protein isoform 2 precursor

See identical proteins and their annotated locations for NP_001273751.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks 3 consecutive exons, which cause a frame-shift compared to variant 1. The resulting shorter isoform (2) has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK298557, BC019295

Consensus CDS

CCDS68221.1

UniProtKB/TrEMBL

B4DDS6, B4DPZ0

Related

ENSP00000395374.2, ENST00000445724.3
NM_004339.4 → NP_004330.1 pituitary tumor-transforming gene 1 protein-interacting protein isoform 1 precursor

See identical proteins and their annotated locations for NP_004330.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).

Source sequence(s)

BC019295, BG721942

Consensus CDS

CCDS13715.1

UniProtKB/Swiss-Prot

B2RDP7, D3DSL9, P53801, Q9NS09

UniProtKB/TrEMBL

A8K274

Related

ENSP00000328325.3, ENST00000330938.8

RNA

NR_104597.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the mid-region compared to variant 1. It is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC019295, BG721942, CN295711