Pinx1 PIN2/TERF1 interacting, telomerase inhibitor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pinx1provided by MGI
Official Full Name: PIN2/TERF1 interacting, telomerase inhibitor 1provided by MGI
Primary source: MGI:MGI:1919650
See related: Ensembl:ENSMUSG00000021958 AllianceGenome:MGI:1919650
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LPTS; LPTS1; 67-11-3; 2210403I16Rik; 2610028A01Rik
Summary: Predicted to enable telomerase RNA binding activity and telomerase inhibitor activity. Predicted to be involved in several processes, including negative regulation of macromolecule metabolic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Predicted to act upstream of or within telomere maintenance via telomerase. Predicted to be located in several cellular components, including chromosome; nucleoplasm; and spindle. Predicted to be active in nucleolus. Is expressed in several structures, including central nervous system; liver; lung; mammary gland; and sensory organ. Human ortholog(s) of this gene implicated in hepatocellular carcinoma. Orthologous to human PINX1 (PIN2 (TERF1) interacting telomerase inhibitor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 10.0), CNS E14 (RPKM 4.6) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 33.34 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (64097728..64157311)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (63860277..63919862)

Chromosome 14 - NC_000080.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PinX1 Depletion Improves Liver Injury in a Mouse Model of Nonalcoholic Fatty Liver Disease via Increasing Telomerase Activity and Inhibiting Apoptosis.
Title: PinX1 Depletion Improves Liver Injury in a Mouse Model of Nonalcoholic Fatty Liver Disease via Increasing Telomerase Activity and Inhibiting Apoptosis.
PinX1t, a Novel PinX1 Transcript Variant, Positively Regulates Cardiogenesis of Embryonic Stem Cells.
Title: PinX1t, a Novel PinX1 Transcript Variant, Positively Regulates Cardiogenesis of Embryonic Stem Cells.
PinX1 heterozygosity and PinX1 knockdown in mouse embryonic fibroblasts activated telomerase and led to concomitant telomerase-dependent chromosomal instability.
Title: The telomerase inhibitor PinX1 is a major haploinsufficient tumor suppressor essential for chromosome stability in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:488870

2610028A01Rik (e-PCR), detects polymorphism
- UniSTS:479145

AU024023 (e-PCR)
- UniSTS:164560

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables telomerase RNA binding	IEA Inferred from Electronic Annotation more info
enables telomerase RNA binding	ISO Inferred from Sequence Orthology more info
enables telomerase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables telomerase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in mitotic metaphase chromosome alignment	IEA Inferred from Electronic Annotation more info
involved_in mitotic metaphase chromosome alignment	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of G2/M transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G2/M transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere maintenance via telomerase	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to nucleolus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein localization to nucleolus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomeric DNA binding	ISO Inferred from Sequence Orthology more info
involved_in protein localization to chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
involved_in protein localization to nucleolus	IEA Inferred from Electronic Annotation more info
involved_in protein localization to nucleolus	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein stability	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein stability	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within telomere maintenance via telomerase	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info	PubMed
located_in kinetochore	IEA Inferred from Electronic Annotation more info
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nuclear chromosome	IEA Inferred from Electronic Annotation more info
located_in nuclear chromosome	ISO Inferred from Sequence Orthology more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in spindle	IEA Inferred from Electronic Annotation more info
located_in spindle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: PIN2/TERF1-interacting telomerase inhibitor 1

Names: PIN2-interacting protein X1; PIN2/TRF1-interacting protein; TRF1-interacting protein 1; liver-related putative tumor suppressor

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.

mRNA and Protein(s)

NM_028228.4 → NP_082504.1 PIN2/TERF1-interacting telomerase inhibitor 1

See identical proteins and their annotated locations for NP_082504.1

Status: VALIDATED

Source sequence(s)

AC118607, AC161764

Consensus CDS

CCDS27205.1

UniProtKB/Swiss-Prot

Q14BS4, Q3V450, Q8C6E5, Q91WZ9, Q9CZX5, Q9D0C2

Related

ENSMUSP00000022528.5, ENSMUST00000022528.6

Conserved Domains (1) summary

smart00443
Location:24 → 69

G_patch; glycine rich nucleic binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

64097728..64157311

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006519595.5 → XP_006519658.1 PIN2/TERF1-interacting telomerase inhibitor 1 isoform X1

Conserved Domains (1) summary

smart00443
Location:24 → 69

G_patch; glycine rich nucleic binding domain
XM_030248045.2 → XP_030103905.1 PIN2/TERF1-interacting telomerase inhibitor 1 isoform X2
XM_036158856.1 → XP_036014749.1 PIN2/TERF1-interacting telomerase inhibitor 1 isoform X3