PRAG1

protein-coding

PEAK1 related, kinase-activating pseudokinase 1

Gene summary

This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]

MANE transcript

NM_001080826.3

Inheritance

—

ClinVar variants

U:388B:33

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr8:8,317,736-8,386,439

External References & Databases

Ensembl (ENSG00000275342)

Transcript & Mutation Effects

hg38 • Region Span ~68.7 kb

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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 PRAG1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 398

not providedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080826.3. 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			3 clinvar	9 clinvar		12
missense			379 clinvar	24 clinvar		403
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	388	33	0	421

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080826.3	RefSeq	NP_001074295.2	5	MANE Select
ENST00000615670.5	Ensembl	ENSP00000481109.1	5	MANE Select
NM_001369759.1	RefSeq	NP_001356688.1	5	Standard
ENST00000933693.1	Ensembl	ENSP00000603752.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein phosphorylation
regulation of cell shape
regulation of Notch signaling pathway
negative regulation of neuron projection development
cell migration

Molecular Function

protein kinase activity
protein binding
ATP binding
identical protein binding

Cellular Component

nucleus
cytoplasm
focal adhesion

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity). {ECO:0000250|UniProtKB:D3ZMK9, ECO:0000250|UniProtKB:Q571I4}.;