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FLASH GENE
Symbol PTK7 contributors: mct - updated : 10-03-2015
HGNC name PTK7 protein tyrosine kinase 7
HGNC id 9618
Location 6p21.1      Physical location : 43.044.028 - 43.129.457
Synonym name colon carcinoma kinase-4
Synonym symbol(s) CCK4
EC.number 2.7.1.112
DNA
TYPE functioning gene
STRUCTURE 85.43 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site
text structure 5'-flanking sequence containing two GC boxes that concatenate Sp1 binding motifs, but does not contain either the TATA or CAAT consensus sequence
MAPPING cloned Y linked   status confirmed
Physical map
RDS 6p21.2-p11.1 retinal degeneration, slow LOC391920 6 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit TBCC 6p21.1 tubulin-specific chaperone c KIAA0240 6p21.1 KIAA0240 RPL7L1 6p21.1 ribosomal protein L7-like 1 PTCRA 6p21.2-p21.3 pre T-cell antigen receptor alpha TNRC5 6pter-p12.1 trinucleotide repeat containing 5 LOC389390 6 LOC389390 RPL24P4 6p21.1 ribosomal protein L24 pseudogene 4 GNMT 6p12 glycine N-methyltransferase PEX6 6p21.1 peroxisomal biogenesis factor 6 PPP2R5D 6p21.1 protein phosphatase 2, regulatory subunit B (B56), delta isoform MEA 6p21.3-p21.1 male-enhanced antigen KLHDC3 6p21.1 kelch domain containing 3 C6orf153 6p21.1 chromosome 6 open reading frame 153 KIAA0076 6p21.1 chromosome 6 open reading frame 153 MRPL2 6p21.3 mitochondrial ribosomal protein L2 KNSL8 6p21.1 kinesin-like 8 PTK7 6p21.1-p12.2 PTK7 protein tyrosine kinase 7 SRF 6p12.3 serum response factor (c-fos serum response element-binding transcription factor) PARC 6p21.1 p53-associated parkin-like cytoplasmic protein C6orf108 6p21.1 chromosome 6 open reading frame 108 TTBK1 6p21.1 tau tubulin kinase 1 SLC22A7 6p21.2-p21.1 solute carrier family 22 (organic anion transporter), member 7 LOC389391 6 similar to thymus LIM protein TLP-B ZNF318 6pter-p12.1 zinc finger protein 318
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 splicing 4249 124.8 1136 - 2002 12427550
  • a 30 aa signal peptide (3.1 kda)
  • a 1040 aa mature peptide (115.3 kda)
  • PTK7-1
  • 19 splicing 4129 120.2 1096 - 2002 12427550
  • lacking an alternate in-frame exon compared to variant PTK7-1
  • a 30 aa signal peptide (3.1 kda)
  • a 1000 aa mature peptide (110.7 kda)
  • PTK7-2
  • 17 splicing 3859 110 1006 - 2002 12427550
  • lacking an alternate in-frame segment compared to variant PTK7-1
  • a 30 aa siganl peptide (3.1 kda)
  • a 910 aa mature peptide (100.5 kda)
  • PTK7-3
  • 19 splicing 4081 - 1085 - 2002 12427550
  • lacking an alternate in-frame segment compared to variant PTK7-1
  • a 30 aa siganl peptide (3.1 kda)
  • a 984 aa mature peptide (109.2 kda)
  • PTK7-4
  • - splicing 4016 - 816 - Jung
  • lacking an alternate exon, which results in a frameshift compared to variant PTK7-1
  • a 30 aa signal peptide (3.1 kda)
  • a 789 aa mature peptide (86.7 kda)
  • 19 exons
  • - - - - - localizes to the nucleus 2012 22665490
  • lacks most of the transmembrane segment from PTK7-CTF1
  • enhances proliferation, migration, and anchorage-independent colony formation in colon cancer
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestivemouthtongue  highly
    Lymphoid/Immunespleen   moderately
     thymus   predominantly
    Reproductivefemale systemovary  highly
     female systemuterus  highly
     male systemtestis  highly
    Respiratoryrespiratory tractlarynx  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  moderately
    Connectivebone  moderately
    Muscularstriatumskeletal moderately
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    cell lineage
    cell lines K-562, human leukemia cells
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven immunoglobulin-like C2-type domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to rattus Srf (92.4pc)
    ortholog to murine Ptk7 (92.5pc)
    Homologene
    FAMILY
  • tyr protein kinase family
  • insulin receptor subfamily
  • CATEGORY enzyme , regulatory , receptor membrane tyrosine kinase
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • single-pass type I membrane protein
  • basic FUNCTION
  • may be functioning as a cell adhesion molecule, lacking probably the catalytic activity of tyrosine kinase
  • plays an important role not only in tube formation, migration, and invasion of endothelial cells but also in angiogenesis
  • planar cell polarity component expressed in the myeloid progenitor compartment that conveys promigratory and antiapoptotic signals into the cell and represents an independent prognosis factor of survival in patients treated with induction chemotherapy
  • acting as a novel regulator of planar cell polarity
  • role for PTK7 in cell proliferation and cell apoptosis
  • functions upstream from glycogen synthase kinase 3 (
  • role for PTK7 in the Wnt canonical signalling pathway (
  • tyrosine kinase receptor implicated in planar cell polarity, a process with multiple implications at the cellular and organism levels
  • pseudokinase that can serves an essential role in FLT1-mediated angiogenesis
  • functions potentially in non-canonical Wnt signalling by turning off the canonical signalling branch
  • acts in conjunction with the noncanonical Wnt pathway to orient epithelial Planar cell polarity (PCP) through modulation of myosin II-based contractile tension between supporting cells and hair cells
  • function as a regulator of planar cell polarity during development
  • role for PTK7 in the tumorigenesis via generation of PTK7-CTF2 by sequential cleavage of ADAM17 and gamma-secretase
  • regulates vertebrate planar cell polarity (PCP), controlling mesodermal and neural convergent-extension (CE) cell movements, neural crest migration and neural tube closure in vertebrate embryos
  • role for PTK7 protein as a modulator of LRP6 that negatively regulates Wnt/PCP activity
  • regulates epithelial morphogenesis and planar cell polarity (PCP) through modulation of actomyosin contractility
  • both PTK7 expression and proteolysis, rather than the level of the cellular full-length PTK7 alone, contribute to efficient directional cell motility and metastasis in cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PLXNA1 interacts with PTK7 and is required for neural crest migration
  • GNB2L1 is a novel interaction partner of PTK7, a regulator of planar cell polarity that is necessary for neural tube closure
  • ADAM17 is likely the PTK7 sheddase
  • PTK7 and LRP6 proteins physically interact, suggesting that PTK7 stabilization of LRP6 protein reciprocally regulates both canonical and noncanonical Wnt activities in the embryo
  • interacts with the tyrosine kinase SRC and stimulates SRC signaling along cell-cell contacts
  • ROCK2 is a target of junctional PTK7-SRC signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in many common cancers, including colon cancer, lung cancer, gastric cancer and acute myeloid leukemia
    tumoral     --over  
    in various cancers including colorectal carcinomas
    tumoral     --low  
    in epithelial ovarian carcinomas with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker potential prognostic marker in ovarian serous carcinomas
    Therapy target
    ANIMAL & CELL MODELS
  • loss of function of PTK7 leads to profound morphogenetic defects in the mouse, such as neural tube defects, misorientation of stereocilia in the inner ear, and impaired polarized cell movements