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    KIT KIT proto-oncogene, receptor tyrosine kinase [ Canis lupus familiaris (dog) ]

    Gene ID: 403811, updated on 17-Aug-2024

    Summary

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    Official Symbol
    KITprovided by VGNC
    Official Full Name
    KIT proto-oncogene, receptor tyrosine kinaseprovided by VGNC
    Primary source
    VGNC:VGNC:42422
    See related
    Ensembl:ENSCAFG00845011904
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Canis lupus familiaris (sub-species: familiaris)
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
    Also known as
    c-KIT
    Orthologs
    human mouse all
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    Genomic context

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    See KIT in Genome Data Viewer
    Location:
    chromosome: 13
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    106 current ROS_Cfam_1.0 (GCF_014441545.1) 13 NC_051817.1 (47717855..47799689)
    106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 13 NC_006595.4 (47065096..47146648)
    106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 13 NC_049234.1 (47870472..47952050)
    106 current UMICH_Zoey_3.1 (GCF_005444595.1) 13 NC_049273.1 (47394247..47475763)
    106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 13 NC_049754.1 (46922748..47004082)

    Chromosome 13 - NC_051817.1Genomic Context describing neighboring genes Neighboring gene GS homeobox 2 Neighboring gene platelet derived growth factor receptor alpha Neighboring gene uncharacterized LOC119876922 Neighboring gene uncharacterized LOC111098471

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. KIT gene exon 11 mutations in canine malignant melanoma. Chu PY, et al. Vet J, 2013 May. PMID 23069279
    2. Clustering of activating mutations in c-KIT's juxtamembrane coding region in canine mast cell neoplasms. Ma Y, et al. J Invest Dermatol, 1999 Feb. PMID 9989791
    3. Spontaneous canine mast cell tumors express tandem duplications in the proto-oncogene c-kit. London CA, et al. Exp Hematol, 1999 Apr. PMID 10210327
    4. Evaluation of the kinase domain of c-KIT in canine cutaneous mast cell tumors. Webster JD, et al. BMC Cancer, 2006 Apr 1. PMID 16579858, Free PMC Article
    5. The role of c-KIT in tumorigenesis: evaluation in canine cutaneous mast cell tumors. Webster JD, et al. Neoplasia, 2006 Feb. PMID 16611403, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Correlation Between KIT Expression and c-Kit Mutations in 2 Subtypes of Canine Oral Melanocytic Neoplasms.
      Title: Correlation Between KIT Expression and c-Kit Mutations in 2 Subtypes of Canine Oral Melanocytic Neoplasms.
    2. In situ c-KIT mRNA quantification of canine cutaneous mast cell tumours and its relationship to prognostic factors.
      Title: In situ c-KIT mRNA quantification of canine cutaneous mast cell tumours and its relationship to prognostic factors.
    3. A canine case of malignant melanoma carrying a KIT c.1725_1733del mutation treated with toceranib: a case report and in vitro analysis.
      Title: A canine case of malignant melanoma carrying a KIT c.1725_1733del mutation treated with toceranib: a case report and in vitro analysis.
    4. C-kit is degraded after reovirus infection in canine mast cell tumor cell lines.
      Title: Reovirus changes the expression of anti-apoptotic and proapoptotic proteins with the c-kit downregulation in canine mast cell tumor cell lines.
    5. mutations in these genes could serve as genetic markers for molecular stratification of cutaneous mast cell tumors and predictors of clinical outcome
      Title: Prevalence and prognostic value of c-kit and TP53 mutations in canine mast cell tumours.
    6. the pan deubiquitinating enzyme inhibitor PR619 prevented imatinib induction of KIT overexpression, suggesting that the imatinib-induced decrease in KIT ubiquitination could be mediated by upregulation and/or activation of deubiquitinating enzyme(s). It may be possible that a similar mechanism of KIT overexpression underlies the acquisition of imatinib resistance in some human tumors that are driven by KIT mutation.
      Title: A decrease in ubiquitination and resulting prolonged life-span of KIT underlies the KIT overexpression-mediated imatinib resistance of KIT mutation-driven canine mast cell tumor cells.
    7. Tumors with KIT mutations showed genome-wide aberrant copy number profiles, with frequent CNAs (DNA copy number aberrations) involving genes in the p53 and RB pathways, whereas CNAs were very limited in tumors with wild-type KIT
      Title: Genomic profiling of canine mast cell tumors identifies DNA copy number aberrations associated with KIT mutations and high histological grade.
    8. KTN0158 inhibits KIT phosphorylation, demonstrates an acceptable safety profile in dogs, and provides objective responses in canine MCT patients with and without activating KIT mutations, supporting future clinical evaluation of KTN0158 in people.
      Title: KTN0158, a Humanized Anti-KIT Monoclonal Antibody, Demonstrates Biologic Activity against both Normal and Malignant Canine Mast Cells.
    9. the high incidence of GNSK-deletion c-kit in canine HSAs implicates KIT isoforms as possibly participating in the tumorigenesis of canine hemangiosarcomas.
      Title: Identification of the two KIT isoforms and their expression status in canine hemangiosarcomas.
    10. data indicate that c-KIT exon 11 mutations occur frequently in canine gastrointestinal stromal tumours
      Title: Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables cytokine binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in Fc receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in Kit signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in positive regulation of MAP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of receptor complex IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mast/stem cell growth factor receptor Kit
    Names
    SCFR
    c-KIT gene1
    proto-oncogene c-Kit
    proto-oncogene tyrosine-protein kinase Kit
    receptor tyrosine kinase c-kit
    tyrosine-protein kinase Kit
    NP_001003181.1
    XP_038540451.1
    XP_038540452.1
    XP_038540453.1

    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)

    1. NM_001003181.1 → NP_001003181.1  mast/stem cell growth factor receptor Kit precursor

      See identical proteins and their annotated locations for NP_001003181.1

      Status: PROVISIONAL

      Source sequence(s)
      AF044249
      UniProtKB/TrEMBL
      Q9XS93
      Conserved Domains (5) summary
      cd05860
      Location:314 → 414
      Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
      smart00410
      Location:226 → 310
      IG_like; Immunoglobulin like
      cd05104
      Location:552 → 927
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:218 → 308
      ig; Immunoglobulin domain
      pfam07714
      Location:588 → 923
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

    Reference ROS_Cfam_1.0

    Genomic

    1. NC_051817.1 Reference ROS_Cfam_1.0

      Range
      47717855..47799689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038684523.1 → XP_038540451.1  mast/stem cell growth factor receptor Kit isoform X1

      UniProtKB/Swiss-Prot
      O97799, Q7YRV7, Q8WN23
      UniProtKB/TrEMBL
      Q9XS93
      Related
      ENSCAFP00845016654.1, ENSCAFT00845021185.1
      Conserved Domains (5) summary
      cd05104
      Location:556 → 931
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:218 → 308
      ig; Immunoglobulin domain
      pfam13927
      Location:415 → 498
      Ig_3; Immunoglobulin domain
      cd00096
      Location:270 → 280
      Ig; Ig strand E [structural motif]
      cd05860
      Location:314 → 414
      IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains

    2. XM_038684524.1 → XP_038540452.1  mast/stem cell growth factor receptor Kit isoform X2

      UniProtKB/TrEMBL
      Q9XS93
      Conserved Domains (5) summary
      cd05104
      Location:555 → 930
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:218 → 307
      ig; Immunoglobulin domain
      pfam13927
      Location:414 → 497
      Ig_3; Immunoglobulin domain
      cd00096
      Location:288 → 296
      Ig; Ig strand F [structural motif]
      cd05860
      Location:313 → 413
      IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains

    3. XM_038684525.1 → XP_038540453.1  mast/stem cell growth factor receptor Kit isoform X3

      UniProtKB/TrEMBL
      Q9XS93
      Related
      ENSCAFP00845016720.1, ENSCAFT00845021261.1
      Conserved Domains (5) summary
      cd05104
      Location:551 → 926
      PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
      pfam00047
      Location:218 → 307
      ig; Immunoglobulin domain
      pfam13927
      Location:414 → 497
      Ig_3; Immunoglobulin domain
      cd00096
      Location:288 → 296
      Ig; Ig strand F [structural motif]
      cd05860
      Location:313 → 413
      IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains

    Alternate UMICH_Zoey_3.1

    Genomic

    1. NC_049273.1 Alternate UMICH_Zoey_3.1

      Range
      47394247..47475763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UNSW_CanFamBas_1.0

    Genomic

    1. NC_049754.1 Alternate UNSW_CanFamBas_1.0

      Range
      46922748..47004082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UU_Cfam_GSD_1.0

    Genomic

    1. NC_049234.1 Alternate UU_Cfam_GSD_1.0

      Range
      47870472..47952050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Dog10K_Boxer_Tasha Primary Assembly

    Genomic

    1. NC_006595.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

      Range
      47065096..47146648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O97799.2 GenPept UniProtKB/Swiss-Prot:O97799

    Gene LinkOut

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