This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by... See more...

Aliases for PEAK1 Gene

Aliases for PEAK1 Gene

  • Pseudopodium Enriched Atypical Kinase 1 2 3 5
  • Inactive Tyrosine-Protein Kinase PEAK1 3 4
  • Tyrosine-Protein Kinase SgK269 3 4
  • Sugen Kinase 269 3 4
  • Pseudopodium-Enriched Atypical Kinase 1 4
  • NKF3 Kinase Family Member 3
  • KIAA2002 4
  • SGK269 3

External Ids for PEAK1 Gene

Previous GeneCards Identifiers for PEAK1 Gene

  • GC15M054157
  • GC15M077401

Summaries for PEAK1 Gene

Entrez Gene Summary for PEAK1 Gene

  • This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]

GeneCards Summary for PEAK1 Gene

PEAK1 (Pseudopodium Enriched Atypical Kinase 1) is a Protein Coding gene. Diseases associated with PEAK1 include Retinitis Pigmentosa 18 and Retinitis Pigmentosa. Among its related pathways are Tyrosine Kinases / Adaptors. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and non-membrane spanning protein tyrosine kinase activity. An important paralog of this gene is PRAG1.

UniProtKB/Swiss-Prot Summary for PEAK1 Gene

  • Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics (PubMed:23105102, PubMed:20534451). Acts as a scaffold for mediating EGFR signaling (PubMed:23846654).

Additional gene information for PEAK1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEAK1 Gene

Genomics for PEAK1 Gene

GeneHancer (GH) Regulatory Elements for PEAK1 Gene

Promoters and enhancers for PEAK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEAK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEAK1

Genomic Locations for PEAK1 Gene

Genomic Locations for PEAK1 Gene
chr15:77,100,656-77,420,144
(GRCh38/hg38)
Size:
319,489 bases
Orientation:
Minus strand
chr15:77,400,471-77,712,486
(GRCh37/hg19)
Size:
312,016 bases
Orientation:
Minus strand

Genomic View for PEAK1 Gene

Genes around PEAK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEAK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEAK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEAK1 Gene

Proteins for PEAK1 Gene

  • Protein details for PEAK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H792-PEAK1_HUMAN
    Recommended name:
    Inactive tyrosine-protein kinase PEAK1
    Protein Accession:
    Q9H792
    Secondary Accessions:
    • Q6ZS78
    • Q8NAZ4
    • Q8NCM3
    • Q8TEG7

    Protein attributes for PEAK1 Gene

    Size:
    1746 amino acids
    Molecular mass:
    193106 Da
    Quaternary structure:
    • Homodimer (PubMed:29212708). Interacts with BCAR1 and CRK (PubMed:20534451). Interacts with PRAG1 (PubMed:29079850). Interacts (when phosphorylated at Tyr-1188) with SHC1 (via PID domain) (PubMed:23846654). Found in a complex with PPP1CA, PPP1CC, SHC1 and PEAK1.
    SequenceCaution:
    • Sequence=BAB15006.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87076.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PEAK1 Gene

neXtProt entry for PEAK1 Gene

Post-translational modifications for PEAK1 Gene

  • Phosphorylated on tyrosine in a CSK-dependent manner in response to adhesion to fibronectin and to EGF stimulation (PubMed:20534451). Phosphorylation at Tyr-665 by a Src family kinase controls subcellular localization to focal adhesion and focal adhesion dynamics (PubMed:20534451). Phosphorylation at Tyr-1188 is essential for binding to SHC1 (PubMed:23846654).
  • Glycosylation at Asn589
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PEAK1_HUMAN (1692)

Antibody Products

  • Boster Bio Antibodies for PEAK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PEAK1

No data available for DME Specific Peptides for PEAK1 Gene

Domains & Families for PEAK1 Gene

Gene Families for PEAK1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PEAK1 Gene

Blocks:
  • Tyrosine protein kinase, active site
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEAK1 Gene

GenScript: Design optimal peptide antigens:
  • Tyrosine-protein kinase SgK269 (PEAK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H792

UniProtKB/Swiss-Prot:

PEAK1_HUMAN :
  • The dimerization region encompasses helices both from the N- and C-terminal of the protein kinase domain.
  • Belongs to the protein kinase superfamily.
Domain:
  • The dimerization region encompasses helices both from the N- and C-terminal of the protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily.
genes like me logo Genes that share domains with PEAK1: view

Function for PEAK1 Gene

Molecular function for PEAK1 Gene

UniProtKB/Swiss-Prot Function:
Probable catalytically inactive kinase. Scaffolding protein that regulates the cytoskeleton to control cell spreading and migration by modulating focal adhesion dynamics (PubMed:23105102, PubMed:20534451). Acts as a scaffold for mediating EGFR signaling (PubMed:23846654).

Phenotypes From GWAS Catalog for PEAK1 Gene

Gene Ontology (GO) - Molecular Function for PEAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IBA 21873635
GO:0004715 non-membrane spanning protein tyrosine kinase activity IDA 20534451
GO:0005515 protein binding IPI 20534451
GO:0005524 NOT ATP binding IEA,IDA 24107129
GO:0042802 identical protein binding IDA 29212708
genes like me logo Genes that share ontologies with PEAK1: view
genes like me logo Genes that share phenotypes with PEAK1: view

Animal Models for PEAK1 Gene

MGI Knock Outs for PEAK1:

miRNA for PEAK1 Gene

miRTarBase miRNAs that target PEAK1

Clone Products

  • Addgene plasmids for PEAK1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEAK1 Gene

Localization for PEAK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEAK1 Gene

Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Note=Colocalizes with F-actin in serum-rich medium (PubMed:20534451). Actin colocalization is reduced during serum starvation (PubMed:20534451). {ECO:0000269 PubMed:20534451}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEAK1 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
plasma membrane 3
cytosol 3
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PEAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IBA,IDA 20534451
GO:0015629 actin cytoskeleton IDA 20534451
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PEAK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEAK1 Gene

Pathways & Interactions for PEAK1 Gene

PathCards logo

SuperPathways for PEAK1 Gene

SuperPathway Contained pathways
1 Tyrosine Kinases / Adaptors
genes like me logo Genes that share pathways with PEAK1: view

Pathways by source for PEAK1 Gene

1 Cell Signaling Technology pathway for PEAK1 Gene

Gene Ontology (GO) - Biological Process for PEAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IBA 21873635
GO:0016477 cell migration IMP 23105102
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0034446 substrate adhesion-dependent cell spreading IDA 20534451
GO:0046777 protein autophosphorylation IDA 20534451
genes like me logo Genes that share ontologies with PEAK1: view

No data available for SIGNOR curated interactions for PEAK1 Gene

Drugs & Compounds for PEAK1 Gene

No Compound Related Data Available

Transcripts for PEAK1 Gene

mRNA/cDNA for PEAK1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for PEAK1

Alternative Splicing Database (ASD) splice patterns (SP) for PEAK1 Gene

No ASD Table

Relevant External Links for PEAK1 Gene

GeneLoc Exon Structure for
PEAK1

Expression for PEAK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEAK1 Gene

Protein differential expression in normal tissues from HIPED for PEAK1 Gene

This gene is overexpressed in Bone marrow stromal cell (19.6), Bone (14.4), and Bone marrow mesenchymal stem cell (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEAK1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEAK1

SOURCE GeneReport for Unigene cluster for PEAK1 Gene:

Hs.9587

Evidence on tissue expression from TISSUES for PEAK1 Gene

  • Nervous system(4.5)
  • Spleen(4.4)
  • Lung(4.3)
  • Kidney(4.2)
  • Muscle(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with PEAK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PEAK1 Gene

Orthologs for PEAK1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PEAK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEAK1 31 30
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEAK1 31
  • 91 (a)
OneToOne
LOC786652 30
  • 89.91 (n)
mouse
(Mus musculus)
Mammalia Peak1 17 30
  • 86.16 (n)
C230081A13Rik 31
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Peak1 30
  • 85.88 (n)
dog
(Canis familiaris)
Mammalia PEAK1 31 30
  • 83.43 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEAK1 31
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEAK1 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEAK1 31 30
  • 74.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEAK1 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496576 30
  • 56.49 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC565111 30
  • 57.67 (n)
peak1 31
  • 49 (a)
OneToOne
Species where no ortholog for PEAK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEAK1 Gene

ENSEMBL:
Gene Tree for PEAK1 (if available)
TreeFam:
Gene Tree for PEAK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEAK1: view image

Paralogs for PEAK1 Gene

Paralogs for PEAK1 Gene

genes like me logo Genes that share paralogs with PEAK1: view

Variants for PEAK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEAK1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
VAR_041820 A bladder carcinoma NOS sample p.His611Gln
VAR_041823 A metastatic melanoma sample p.Ser1035Phe
VAR_041826 A metastatic melanoma sample p.Pro1145Leu
rs12909704 - p.Arg1071Lys
rs1867780 - p.Ser1542Thr

Additional dbSNP identifiers (rs#s) for PEAK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PEAK1 Gene

Variant ID Type Subtype PubMed ID
dgv461e199 CNV deletion 23128226
dgv4659n54 CNV loss 21841781
esv22240 CNV loss 19812545
esv23074 CNV loss 19812545
esv23118 CNV loss 19812545
esv2671208 CNV deletion 23128226
esv2675322 CNV deletion 23128226
esv2749898 CNV deletion 23290073
esv2749901 CNV deletion 23290073
esv2761954 CNV loss 21179565
esv33934 CNV loss 17666407
esv3581774 CNV loss 25503493
esv3581775 CNV loss 25503493
esv3581776 CNV loss 25503493
esv3581777 CNV loss 25503493
esv3636958 CNV loss 21293372
esv3636959 CNV loss 21293372
esv3636960 CNV loss 21293372
esv3636961 CNV loss 21293372
esv3636962 CNV loss 21293372
esv3636963 CNV loss 21293372
nsv1040430 CNV loss 25217958
nsv1040852 CNV gain 25217958
nsv1041064 CNV loss 25217958
nsv1116463 OTHER inversion 24896259
nsv1122983 CNV deletion 24896259
nsv1623 CNV insertion 18451855
nsv473491 CNV novel sequence insertion 20440878
nsv570136 CNV loss 21841781
nsv974604 CNV duplication 23825009
nsv974605 CNV duplication 23825009
nsv984094 CNV duplication 23825009

Variation tolerance for PEAK1 Gene

Residual Variation Intolerance Score: 2.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.26; 90.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEAK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEAK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEAK1 Gene

Disorders for PEAK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PEAK1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 18
  • rp18
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search PEAK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PEAK1

genes like me logo Genes that share disorders with PEAK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEAK1 Gene

Publications for PEAK1 Gene

  1. Pseudopodium-enriched atypical kinase 1 regulates the cytoskeleton and cancer progression [corrected]. (PMID: 20534451) Wang Y … Klemke RL (Proceedings of the National Academy of Sciences of the United States of America 2010) 2 3 4 54
  2. The crystal structure of pseudokinase PEAK1 (Sugen kinase 269) reveals an unusual catalytic cleft and a novel mode of kinase fold dimerization. (PMID: 29212708) Ha BH … Boggon TJ (The Journal of biological chemistry 2018) 3 4 54
  3. Structure of SgK223 pseudokinase reveals novel mechanisms of homotypic and heterotypic association. (PMID: 29079850) Patel O … Lucet IS (Nature communications 2017) 3 4 54
  4. A robust methodology to subclassify pseudokinases based on their nucleotide-binding properties. (PMID: 24107129) Murphy JM … Lucet IS (The Biochemical journal 2014) 3 4 54
  5. Temporal regulation of EGF signalling networks by the scaffold protein Shc1. (PMID: 23846654) Zheng Y … Pawson T (Nature 2013) 3 4 54

Products for PEAK1 Gene

Sources for PEAK1 Gene