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KIT KIT proto-oncogene, receptor tyrosine kinase [ Equus caballus (horse) ]

Gene ID: 100009704, updated on 15-Feb-2023

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:19433
See related
Ensembl:ENSECAG00000012032
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Equus caballus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus
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: 3
Exon count:
21
Annotation release Status Assembly Chr Location
103 current EquCab3.0 (GCF_002863925.1) 3 NC_009146.3 (79536564..79618685, complement)
102 previous assembly EquCab2.0 (GCF_000002305.2) 3 NC_009146.2 (77728139..77809750, complement)

Chromosome 3 - NC_009146.3Genomic Context describing neighboring genes Neighboring gene folate receptor alpha-like Neighboring gene microRNA mir-9076 Neighboring gene uncharacterized LOC111772700 Neighboring gene platelet derived growth factor receptor alpha

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. Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Dürig N, et al. Anim Genet, 2017 Aug. PMID 28444912
  2. A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes. Holl HM, et al. Anim Genet, 2017 Aug. PMID 28378922
  3. Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses. Han H, et al. Jpn J Vet Res, 2016 Feb. PMID 27348891
  4. [Effects of Kit gene on coat depigmentation in white horses]. Bai DY, et al. Yi Chuan, 2011 Nov. PMID 22120071
  5. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Brooks SA, et al. Cytogenet Genome Res, 2007. PMID 18253033

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PAX3 gene and sabino1 of KIT gene interact to create different coat color patterns
    Title: Novel insights into Sabino1 and splashed white coat color patterns in horses.
  2. a splice site mutation in KIT is responsible for all white coat color phenotypes
    Title: A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes.
  3. a new structural deletion variant at the KIT gene; The W22 allele probably represents a null allele at the KIT gene; All horses with the W20/W22 genotype were completely white, whereas the degree of depigmentation in animals with the W22/+ genotype varied between ~15% and 100%.
    Title: Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.
  4. the missense mutation p.Arg682His, the g.77784972T>C variant at KIT and the g.20147039C>T variant at MITF are the main influence on the extent of white facial markings
    Title: Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses.
  5. This study will provide fundamental genetic information for evaluating the genetic diversity of Kit gene in Chinese indigenous horse breeds.
    Title: Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses.
  6. A heterozygous splice site mutation in intron 8 of the KIT gene (c.1346 + 1G>A) in a bay Swiss Warmblood horse with extended white speckled areas.
    Title: Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.
  7. Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.
    Title: Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.
  8. The formation of the epidermal melanoblast and melanin relies on the expression of kit gene, which determines the presence of white phenotype.
    Title: [Effects of Kit gene on coat depigmentation in white horses].
  9. These results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene.
    Title: Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.
  10. Tobiano associated with a large paracentric chromosome inversion on horse chromosome 3, is reported, which may disrupt regulatory sequences for the KIT gene and cause the white spotting pattern.
    Title: A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

General protein information

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Preferred Names
mast/stem cell growth factor receptor Kit
Names
V-KIT Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein
mast/stem cell growth factor receptor
tyrosine kinase receptor homolog
XP_005608630.2
XP_005608631.2
XP_014593993.2

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)

  1. NM_001163866.2 → NP_001157338.2  mast/stem cell growth factor receptor Kit precursor

    Status: PROVISIONAL

    Source sequence(s)
    PJAA01000004
    UniProtKB/TrEMBL
    A8E0G5
    Related
    ENSECAP00000011319.3, ENSECAT00000014185.4
    Conserved Domains (4) summary
    cd05104
    Location:549 → 924
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216 → 305
    ig; Immunoglobulin domain
    cd00096
    Location:426 → 505
    Ig; Immunoglobulin domain
    cd05860
    Location:311 → 411
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

RefSeqs of Annotated Genomes: Equus caballus Annotation Release 103 details...Open this link in a new tab

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

Reference EquCab3.0 Primary Assembly

Genomic

  1. NC_009146.3 Reference EquCab3.0 Primary Assembly

    Range
    79536564..79618685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005608573.3 → XP_005608630.2  mast/stem cell growth factor receptor Kit isoform X3

    Conserved Domains (4) summary
    cd05104
    Location:550 → 925
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216 → 306
    ig; Immunoglobulin domain
    cd00096
    Location:427 → 506
    Ig; Immunoglobulin domain
    cd05860
    Location:312 → 412
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

  2. XM_014738507.2 → XP_014593993.2  mast/stem cell growth factor receptor Kit isoform X1

    Related
    ENSECAP00000011188.3, ENSECAT00000014037.4
    Conserved Domains (4) summary
    cd05104
    Location:554 → 929
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216 → 306
    ig; Immunoglobulin domain
    cd00096
    Location:427 → 506
    Ig; Immunoglobulin domain
    cd05860
    Location:312 → 412
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

  3. XM_005608574.3 → XP_005608631.2  mast/stem cell growth factor receptor Kit isoform X2

    Conserved Domains (4) summary
    cd05104
    Location:553 → 928
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216 → 305
    ig; Immunoglobulin domain
    cd00096
    Location:426 → 505
    Ig; Immunoglobulin domain
    cd05860
    Location:311 → 411
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
Nucleotide Protein
Heading Accession and Version

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