Ptprq protein tyrosine phosphatase receptor type Q [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ptprqprovided by MGI
Official Full Name: protein tyrosine phosphatase receptor type Qprovided by MGI
Primary source: MGI:MGI:1096349
See related: Ensembl:ENSMUSG00000035916 AllianceGenome:MGI:1096349
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: R-PTP-Q
Summary: Predicted to enable protein tyrosine phosphatase activity. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; hematopoietic progenitor cell differentiation; and vestibular receptor cell morphogenesis. Located in stereocilium bundle. Is expressed in cochlea; crista ampullaris; inner ear vestibular component; macula of utricle; and saccule. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 73 and autosomal recessive nonsyndromic deafness 84A. Orthologous to human PTPRQ (protein tyrosine phosphatase receptor type Q). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 10 D1; 10 55.97 cM

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (107350224..107555939, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (107514363..107720098, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

The reduction in Ptprq observed in miR-96 mutantdiminuendo mice appears to be a major contributor to the morphological, transcriptional and electrophysiological phenotype
Title: A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo.
The results reveal a distinct phenotype in the vestibular system of Ptprq(-/-) mice and suggest similar hair bundle defects may underlie the vestibular dysfunction reported in humans with mutations in PTPRQ.
Title: Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ.
Three distinct, developmentally regulated isoforms of Ptprq may therefore be expressed on hair bundles of the chick inner ear
Title: Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear.
Results suggest that PTPRQ and myosin VI form a complex that dynamically maintains the organization of the cell surface coat at the stereocilia base and helps maintain the structure of the overall stereocilia bundle.
Title: Dynamic compartmentalization of protein tyrosine phosphatase receptor Q at the proximal end of stereocilia: implication of myosin VI-based transport.
Ptprq is required for formation of the shaft connectors of the hair bundle, the normal maturation of cochlear hair bundles, and the long-term survival of high-frequency auditory hair cells
Title: A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles.

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Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit163 (e-PCR), detects polymorphism
- UniSTS:126067

Ptprq (e-PCR), detects polymorphism
- UniSTS:144304

D10Mit163.2 (e-PCR), detects polymorphism
- UniSTS:141507

Ptprq (e-PCR), detects polymorphism
- UniSTS:547526

Ptprq (e-PCR), detects polymorphism
- UniSTS:547527

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables phosphoprotein phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in dephosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of fat cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within vestibular receptor cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium base	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium bundle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol phosphatase PTPRQ

Names: phosphotidylinositol phosphatase PTPRQ

NP_001074901.1

EC 3.1.3.48

NP_001357916.1

EC 3.1.3.48

XP_006513698.1

EC 3.1.3.48

XP_017169427.1

EC 3.1.3.48

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_001081432.2 → NP_001074901.1 phosphatidylinositol phosphatase PTPRQ isoform 2 precursor

See identical proteins and their annotated locations for NP_001074901.1

Status: VALIDATED

Source sequence(s)

AC021642, AC123948, AC155168

Consensus CDS

CCDS36051.1

UniProtKB/Swiss-Prot

P0C5E4

Related

ENSMUSP00000058572.8, ENSMUST00000050702.9

Conserved Domains (4) summary

cd00063
Location:57 → 151

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl06408
Location:1758 → 1927

UP_III_II; Uroplakin IIIb, IIIa and II

cd14616
Location:2032 → 2255

R-PTPc-Q; catalytic domain of receptor-type tyrosine-protein phosphatase Q

pfam00041
Location:667 → 743

fn3; Fibronectin type III domain
NM_001370987.1 → NP_001357916.1 phosphatidylinositol phosphatase PTPRQ isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC021642, AC123948, AC155168

Conserved Domains (4) summary

cd00063
Location:57 → 151

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl06408
Location:1759 → 1928

UP_III_II; Uroplakin IIIb, IIIa and II

cd14616
Location:2033 → 2256

R-PTPc-Q; catalytic domain of receptor-type tyrosine-protein phosphatase Q

pfam00041
Location:668 → 744

fn3; Fibronectin type III 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_000076.7 Reference GRCm39 C57BL/6J

Range

107350224..107555939 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017313938.3 → XP_017169427.1 phosphatidylinositol phosphatase PTPRQ isoform X2

Conserved Domains (3) summary

cd00063
Location:57 → 151

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl06408
Location:1668 → 1830

UP_III_II; Uroplakin IIIb, IIIa and II

pfam00041
Location:668 → 744

fn3; Fibronectin type III domain
XM_006513635.3 → XP_006513698.1 phosphatidylinositol phosphatase PTPRQ isoform X1

See identical proteins and their annotated locations for XP_006513698.1

Conserved Domains (3) summary

cd00063
Location:57 → 151

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl06408
Location:1766 → 1928

UP_III_II; Uroplakin IIIb, IIIa and II

pfam00041
Location:668 → 744

fn3; Fibronectin type III domain