PTTG1IP

protein-coding

PTTG1 interacting protein

Gene 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]

Previous symbols:

C21orf3
C21orf1

MANE transcript

NM_004339.4

Inheritance

—

ClinVar variants

U:32B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr21:44,849,585-44,873,903

External References & Databases

Ensembl (ENSG00000183255)

Transcript & Mutation Effects

hg38 • Region Span ~24.3 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PTTG1IP variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 25

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004339.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			26 clinvar	1 clinvar	1 clinvar	28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	32	1	1	34

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004339.4	RefSeq	NP_004330.1	6	MANE Select
ENST00000330938.8	Ensembl	ENSP00000328325.3	6	MANE Select
NM_001286822.2	RefSeq	NP_001273751.1	3	Standard
ENST00000397886.3	Ensembl	ENSP00000380983.3	5	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
pttg1ipb	Danio rerio	Structure: thrombocyte Quality: decreased amount abnormal

Gene / Model

Organism

Observed Phenotype

pttg1ipb

Danio rerio

Structure: thrombocyte

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

TCR
Fibroblast growth factor-1
EGFR1

Biological Process

protein import into nucleus
positive regulation of protein ubiquitination
negative regulation of DNA damage response, signal transduction by p53 class mediator
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator
positive regulation of cellular protein catabolic process

Molecular Function

p53 binding
molecular_function
protein binding

Cellular Component

nucleus
nucleoplasm
cytoplasm
membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000330938
Coding exons: 6
Length: 24253
Individuals with no LoFs: 125729
Homozygous LoFs: 0
Heterozygous LoFs: 19
Defined: 125748
p: 0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0543	96	97.5	0.985	0.00000609	1157
Missense (PolyPhen)		31	38.459	0.80605		403
Synonymous	-0.734	42	36.4	1.15	0.00000231	343
Loss of Function	1.40	5	9.72	0.514	5.11e-7	119

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000099	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May facilitate PTTG1 nuclear translocation.;

Recessive Scores

pRec: 0.107

Intolerance Scores

LoFtool: 0.607
RVIS EVS: 0.24
RVIS percentile EVS: 68.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.963

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium