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    PTK7 protein tyrosine kinase 7 (inactive) [ Homo sapiens (human) ]

    Gene ID: 5754, updated on 7-Apr-2024

    Summary

    Official Symbol
    PTK7provided by HGNC
    Official Full Name
    protein tyrosine kinase 7 (inactive)provided by HGNC
    Primary source
    HGNC:HGNC:9618
    See related
    Ensembl:ENSG00000112655 MIM:601890; AllianceGenome:HGNC:9618
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCK4; CCK-4
    Summary
    This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
    Expression
    Broad expression in endometrium (RPKM 43.5), ovary (RPKM 31.2) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PTK7 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43076314..43161715)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42905060..42990493)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43044052..43129453)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43027385-43028336 Neighboring gene Sharpr-MPRA regulatory region 10128 Neighboring gene mitochondrial ribosomal protein L2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43038920-43039420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43043187-43043710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17218 Neighboring gene kinesin light chain 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43049243-43049446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43050481-43051047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43051048-43051613 Neighboring gene KLC4 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43057365-43057958 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:43057959-43058553 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43058554-43059147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43086921-43087840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43087841-43088760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43099803-43100304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43100305-43100804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24592 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43138211-43138940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17219 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43139967-43140935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43145601-43146102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43146103-43146602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17221 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:43154118-43155317 Neighboring gene serum response factor Neighboring gene cullin 9 Neighboring gene MPRA-validated peak5812 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43190560-43191097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24596

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables axon guidance receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables coreceptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axis elongation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to retinoic acid IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cochlea morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in convergent extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of epithelial cell apical/basal polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of planar polarity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung-associated mesenchyme development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in planar cell polarity pathway involved in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of canonical Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion HDA PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    inactive tyrosine-protein kinase 7
    Names
    PTK7 protein tyrosine kinase 7
    colon carcinoma kinase 4
    pseudo tyrosine kinase receptor 7
    tyrosine-protein kinase-like 7
    NP_001257327.1
    NP_002812.2
    NP_690619.1
    NP_690620.1
    NP_690621.1
    XP_011513067.1
    XP_011513068.1
    XP_047275113.1
    XP_054212039.1
    XP_054212040.1
    XP_054212041.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001270398.2NP_001257327.1  inactive tyrosine-protein kinase 7 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant PTK7-1. The encoded isoform (e) is longer and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AI140260, AK291016, AK296953, BQ881986, CN266652
      Consensus CDS
      CCDS59021.1
      UniProtKB/Swiss-Prot
      Q13308
      Related
      ENSP00000418754.1, ENST00000481273.5
      Conserved Domains (9) summary
      cd05046
      Location:7981071
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:250310
      Ig; Immunoglobulin domain
      cd05760
      Location:154230
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:613677
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:8091069
      STYKc; Protein kinase; unclassified specificity
      smart00409
      Location:348416
      IG; Immunoglobulin
      smart00410
      Location:606689
      IG_like; Immunoglobulin like
      pfam07679
      Location:420506
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:422506
      Ig; Immunoglobulin domain
    2. NM_002821.5NP_002812.2  inactive tyrosine-protein kinase 7 isoform a precursor

      See identical proteins and their annotated locations for NP_002812.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PTK7-1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AF531868, AI140260, AK291016, CA389442
      Consensus CDS
      CCDS4884.1
      UniProtKB/Swiss-Prot
      A8K974, B7Z477, E9PFZ5, Q13308, Q13417, Q5T650, Q6IQ54, Q8NFA5, Q8NFA6, Q8NFA7, Q8NFA8
      Related
      ENSP00000230419.4, ENST00000230419.9
      Conserved Domains (8) summary
      cd05046
      Location:7901063
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:242302
      Ig; Immunoglobulin domain
      cd05760
      Location:146222
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:605669
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:8011061
      STYKc; Protein kinase; unclassified specificity
      smart00410
      Location:598681
      IG_like; Immunoglobulin like
      pfam07679
      Location:412498
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:414498
      Ig; Immunoglobulin domain
    3. NM_152880.4NP_690619.1  inactive tyrosine-protein kinase 7 isoform b precursor

      See identical proteins and their annotated locations for NP_690619.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PTK7-2) lacks an exon in the coding region, but maintains the reading frame, compared to variant PTK7-1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AF531869, AI140260, AK291016, CA389442
      Consensus CDS
      CCDS4885.1
      UniProtKB/Swiss-Prot
      Q13308
      Related
      ENSP00000325992.4, ENST00000345201.6
      Conserved Domains (9) summary
      cd05046
      Location:7501023
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:242302
      Ig; Immunoglobulin domain
      cd05760
      Location:146222
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:565629
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:7611021
      STYKc; Protein kinase; unclassified specificity
      smart00409
      Location:231301
      IG; Immunoglobulin
      smart00410
      Location:558641
      IG_like; Immunoglobulin like
      pfam07679
      Location:412498
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:414498
      Ig; Immunoglobulin domain
    4. NM_152881.4NP_690620.1  inactive tyrosine-protein kinase 7 isoform c precursor

      See identical proteins and their annotated locations for NP_690620.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PTK7-3) lacks three consecutive exons in the coding region, but maintains the reading frame, compared to variant PTK7-1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AF531870, AI140260, AK291016, CA389442
      Consensus CDS
      CCDS4886.1
      UniProtKB/Swiss-Prot
      Q13308
      Related
      ENSP00000325462.4, ENST00000349241.6
      Conserved Domains (6) summary
      cd05046
      Location:660933
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:242302
      Ig; Immunoglobulin domain
      cd05760
      Location:146222
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:475539
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:671931
      STYKc; Protein kinase; unclassified specificity
      smart00410
      Location:468551
      IG_like; Immunoglobulin like
    5. NM_152882.4NP_690621.1  inactive tyrosine-protein kinase 7 isoform d precursor

      See identical proteins and their annotated locations for NP_690621.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PTK7-4) uses an alternate splice site and lacks an exon in the coding region, but maintains the reading frame, compared to variant PTK7-1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AF531871, AI140260, AK291016, CA389442
      Consensus CDS
      CCDS4887.1
      UniProtKB/Swiss-Prot
      Q13308
      Related
      ENSP00000326029.3, ENST00000352931.6
      Conserved Domains (9) summary
      cd05046
      Location:7341007
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:242302
      Ig; Immunoglobulin domain
      cd05760
      Location:146222
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:520574
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:7451005
      STYKc; Protein kinase; unclassified specificity
      smart00409
      Location:231301
      IG; Immunoglobulin
      smart00410
      Location:38112
      IG_like; Immunoglobulin like
      pfam07679
      Location:412498
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:414498
      Ig; Immunoglobulin domain

    RNA

    1. NR_072997.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an internal exon, compared to variant PTK7-1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant PTK7-1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC014626, CA389442, DA048438
      Related
      ENST00000470019.5
    2. NR_072998.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (PTK7-5) lacks an internal exon, compared to variant PTK7-1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant PTK7-1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF531872, AI140260, AK291016, CA389442
      Related
      ENST00000230418.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43076314..43161715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514765.3XP_011513067.1  inactive tyrosine-protein kinase 7 isoform X1

      Conserved Domains (9) summary
      cd05046
      Location:7581031
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:250310
      Ig; Immunoglobulin domain
      cd05760
      Location:154230
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:573637
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:7691029
      STYKc; Protein kinase; unclassified specificity
      smart00409
      Location:239309
      IG; Immunoglobulin
      smart00410
      Location:566649
      IG_like; Immunoglobulin like
      pfam07679
      Location:420506
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:422506
      Ig; Immunoglobulin domain
    2. XM_011514766.3XP_011513068.1  inactive tyrosine-protein kinase 7 isoform X2

      Conserved Domains (6) summary
      cd05046
      Location:668941
      PTK_CCK4; Pseudokinase domain of the Protein Tyrosine Kinase, Colon Carcinoma Kinase 4
      cd00096
      Location:250310
      Ig; Immunoglobulin domain
      cd05760
      Location:154230
      Ig2_PTK7; Second immunoglobulin (Ig)-like domain of protein tyrosine kinase (PTK) 7, also known as CCK4
      smart00408
      Location:483547
      IGc2; Immunoglobulin C-2 Type
      smart00221
      Location:679939
      STYKc; Protein kinase; unclassified specificity
      smart00410
      Location:476559
      IG_like; Immunoglobulin like
    3. XM_047419157.1XP_047275113.1  inactive tyrosine-protein kinase 7 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42905060..42990493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356064.1XP_054212039.1  inactive tyrosine-protein kinase 7 isoform X1

    2. XM_054356065.1XP_054212040.1  inactive tyrosine-protein kinase 7 isoform X2

    3. XM_054356066.1XP_054212041.1  inactive tyrosine-protein kinase 7 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152883.1: Suppressed sequence

      Description
      NM_152883.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.