PRAG1 PEAK1 related, kinase-activating pseudokinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRAG1provided by HGNC
Official Full Name: PEAK1 related, kinase-activating pseudokinase 1provided by HGNC
Primary source: HGNC:HGNC:25438
See related: Ensembl:ENSG00000275342 MIM:617344; AllianceGenome:HGNC:25438
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NACK; PEAK2; SGK223; PRAGMIN
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]
Expression: Broad expression in thyroid (RPKM 9.5), fat (RPKM 5.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p23.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (8317736..8386439, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (11357159..11425856)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (8175258..8243949, complement)

Chromosome 8 - NC_000008.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study.
Title: Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study.
The inhibition of Panc1 cancer cells invasion by hAMSCs secretome through suppression of tyrosine phosphorylation of SGK223 (at Y411 site), c-Src (at Y416, Y530 sites), AKT activity, and JAK1/Stat3 signaling.
Title: The inhibition of Panc1 cancer cells invasion by hAMSCs secretome through suppression of tyrosine phosphorylation of SGK223 (at Y411 site), c-Src (at Y416, Y530 sites), AKT activity, and JAK1/Stat3 signaling.
It was discovered that pseudo-kinase pragmin uses the tyrosine kinase CSK to induce protein tyrosine phosphorylation in human cells.
Title: Dimerization of the Pragmin Pseudo-Kinase Regulates Protein Tyrosine Phosphorylation.
analysis of how the kinase fold mediates non-catalytic functions in SgK223
Title: Structure of SgK223 pseudokinase reveals novel mechanisms of homotypic and heterotypic association.
the critical role of the CH region in SgK269/SgK223 association. Importantly, although SgK269 bridged SgK223 to Grb2, it was unable to activate Stat3 or efficiently enhance migration in SgK223 knock-out cells generated by CRISPR/Cas9.
Title: Homo- and Heterotypic Association Regulates Signaling by the SgK269/PEAK1 and SgK223 Pseudokinases.
deregulation of the Pragmin-Csk axis may induce aberrant cell migration that contributes to tumor invasion and metastasis
Title: C-terminal Src kinase-mediated EPIYA phosphorylation of Pragmin creates a feed-forward C-terminal Src kinase activation loop that promotes cell motility.
Results provide evidence that NACK was strongly expressed in a subset of non-small cell lung cancer (NSCLCL) samples and interference of NACK inhibits NSCLC progression through failing to activate Notch1 signaling complexes.
Title: Silencing NACK by siRNA inhibits tumorigenesis in non-small cell lung cancer via targeting Notch1 signaling pathway.
Increased expression of SgK223 occurs in PDAC, and overexpression of SgK223 in pancreatic ductal epithelial cells promotes acquisition of a migratory and invasive phenotype through enhanced JAK1/Stat3 signaling
Title: The pseudokinase SgK223 promotes invasion of pancreatic ductal epithelial cells through JAK1/Stat3 signaling.
Pragmin as a mammalian EPIYA effector and suggests that bacterial EPIYA effectors target Pragmin to subvert SFKs for successful infection.
Title: Mammalian Pragmin regulates Src family kinases via the Glu-Pro-Ile-Tyr-Ala (EPIYA) motif that is exploited by bacterial effectors.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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-172471 (e-PCR)
- UniSTS:184839

D8S12039 (e-PCR)
- UniSTS:265001

G32791 (e-PCR)
- UniSTS:117370

SHGC-34242 (e-PCR)
- UniSTS:82143

A009Q42 (e-PCR)
- UniSTS:19707

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell shape	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: inactive tyrosine-protein kinase PRAG1

Names: PEAK family member 2; Pragmin, RND2 effector protein; homolog of rat pragma of Rnd2; sugen kinase 223; tyrosine-protein kinase PRAG1; tyrosine-protein kinase SgK223

NP_001074295.2

EC 2.7.10.2

NP_001356688.1

EC 2.7.10.2

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_001080826.3 → NP_001074295.2 inactive tyrosine-protein kinase PRAG1

See identical proteins and their annotated locations for NP_001074295.2

Status: VALIDATED

Source sequence(s)

ABBA01026926, AC068353, AC103957, AK122582, AL833872, BX420505

Consensus CDS

CCDS43706.1

UniProtKB/Swiss-Prot

Q86YV5, Q8N3N5

UniProtKB/TrEMBL

A0AAG2UYF2

Related

ENSP00000481109.1, ENST00000615670.5

Conserved Domains (2) summary

PHA03247
Location:371 → 631

PHA03247; large tegument protein UL36; Provisional

cl21453
Location:1039 → 1330

PKc_like; Protein Kinases, catalytic domain
NM_001369759.1 → NP_001356688.1 inactive tyrosine-protein kinase PRAG1

Status: VALIDATED

Source sequence(s)

ABBA01026926, AC068353, AC103957, AK122582, AL833872, BX420505

Consensus CDS

CCDS43706.1

UniProtKB/Swiss-Prot

Q86YV5, Q8N3N5

UniProtKB/TrEMBL

A0AAG2UYF2

Conserved Domains (2) summary

PHA03247
Location:371 → 631

PHA03247; large tegument protein UL36; Provisional

cl21453
Location:1039 → 1330

PKc_like; Protein Kinases, catalytic domain