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Gene Model: Kit

NomenclatureGenomic Location
SymbolKitChromosome1
NameMast/stem cell growth factor
receptor		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 93 Mbp

Molecular Function

This is the receptor for stem cell factor (mast cell growth factor). It has a tyrosine-protein kinase activity. Binding of the ligands leads to the autophosphorylation of KIT and its association with substrates such as phosphatidylinositol 3-kinase (Pi3K).

Molecular Function Terms:

binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding
   protein binding
      enzyme binding
         protease binding

catalytic activity
   transferase activity
      transferase activity, transferring phosphorus-containing groups
         kinase activity

Human Disease Association

Defects in KIT are a cause of piebald trait (PBT) [MIM:172800]. PBT is an autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes.

Defects in KIT are a cause of gastrointestinal stromal tumor (GIST) [MIM:606764].

Defects in KIT have been associated with testicular tumors (TEST) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms.

Predicted Transcript
     1 CCTTCGATCACTCCAGAAGAATCCCCTTTAGTTGTCAATAGTGGGCAAGAATTAAGGCTG
    61 TTTTGTAGGGATGATAGCGCTGTGACCTGGCATATCCAGAATGCAGACCCATCCGCACTG
   121 CCCAAGCATCTAAGATCCCAGGAGCTTTACATAAATGCAGTTGGACCCAGAGACACAGGG
   181 ACATATACGTGCAAGGACAAAGAGGGCTTGAATGACTCCATTTACGTCTTTGTTAAAGAT
   241 CCAAAGGTTCTGTTCTTTCACGAATCTGTTGCGTATGCAGTTGAAGACAGTGATGCTCTT
   301 ATTCAATGCCCAGTGACAGACCCAGAGATTTCAAATTTCACATTGAAAAGATGTAAAAAT
   361 GCCAAGTCTCTACCTGAGAATATTGTGTTAAAACCTGACCCTCAGAAAGGAATTACCATA
   421 AAAAATGTACAAAGATCATTTTTGGGCTGTTACCAATGTGTAGCACAACACAACGGAGTG
   481 GAAAAACAGTCAGAAGCCATCAACCTTTTTGTGCGGCCAGTTCACAAATCCCTTCCAGTC
   541 ATCACCTTATCCAAAGCCGACCAACTTCTTAAAGAAGGTGAAGAATTTGAAGTTATGTGC
   601 ACAATCAGGGATGTTGATAGCACTCTGCGAGCTAATTGGATTGTTCAAACTAATGTGCAA
   661 GCAACAAGTGTGCCAGAGGAACTGAAGCAGAATCTTACAAGCAAAAGCAAGAATGTGGGT
   721 GATTATGGATATGAACAAAAATTAACTCTGAGCATCCGTTCAGTGGGAGTTAATGATTCT
   781 GGAGCATTCACGTGCCAAGGAAGCAACCCTTTTGGAACATCCAATGTCACTATAACCTTG
   841 ACAGTACTAGGTAAAGGATATGTCAGTTTATCAACTTCTACAGATTCAACGGTACATGTC
   901 AATGATGGAGAAAATCTGGCTTTAATAGTGACCTATGAAGCATATCCCAAACCAGAAGAA
   961 GAAATATGGATGTATATGAATGAAACCTTGCAAAATTCATCTGATCATTACGTCAGAGTC
  1021 ACAAATATAGACCGAAACAGACACTCCAGTGAGCTTCACCTTACTCGACTGAAAGGAACA
  1081 GAAGGAGGCATTTACACATTTTTTGTGTCCAATTCAGATGCTAACTCCTCTATAGCGTTC
  1141 AACGTCTATGTCAACACCAAACCAGAGATTGTCACTTCAGAAAGACTTAGCAACGGCATG
  1201 CTTCATTGTGTGGCTTCAGGGTACCCTGCCCCTACAATAAACTGGTACATTTGCCCAGGA
  1261 ACTGAGCAGAGGTGTTCAGATTCATCAAATATTTCTCCAGTGGACGTGAAGACCAGCTAT
  1321 AATGATTCACCCTTTCCTTCCTTTGGAAAGGTAGTCGTTGAAAGCACCATTGATGCCAGC
  1381 ATGTTCAAGAACAACGGCACAATCACATGTGAGGCTTCCAACTCCATTGACAGGCGCACA
  1441 GCTTATTTCAACTTTGCAGTCAAAGAACAAATCAGCACTCATACCCTTTTCACCCCTTTG
  1501 CTAATTGGCTTTGGAGTCGCAGCAGGTCTCATGTGCATCACAGTTATAGTTCTTGTGTAC
  1561 AAATATCTTCAGAAACCCAAGTATGAGATTCAGTGGAAAGTGGTTGATGAAATAAATGGA
  1621 AACAACTATGTTTACATAGACCCAACACAGCTTCCATATGATGACAAATGGGAGTTTCCA
  1681 AGAAACCGGCTAATTTTTGGCAAGACTCTAGGAGCTGGAGCTTTTGGGAAAGTTGTTGAA
  1741 GCAACTGCCTATGGTCTGTTCAAACCTGATGGAGGATTGAGAGTAGCTGTAAAAATGCTC
  1801 AAGCCCAGTGCCCATTTCACTGAAAAGGAAGCCTTGATGTCAGAACTGAAAGTGTTGAGT
  1861 TACCTTGGCAACCATATTAACATTGTGAATTTACTAGGAGCCTGCACAATTGGAGGTCCT
  1921 ACCCTGGTCATCACGGAATATTGCTGTTATGGCGACCTTTTGAATTTCCTGAGGAGAAAA
  1981 CGTGATTCTTTTATTTGCCCAAAGCATGAAGAAACAGCTGTTTACAAGAACCTCCTCCAT
  2041 CAAAAAGAACACATGTATGATGCCACCAATGAATATATGGATATGAAACCTGGAGTTTCT
  2101 AAGGTTGTCCATGCCAAAACTGCTAAAAGAAGTCCAGGAAGGACAGGATCGTTTGTTAAT
  2161 CAGGATGTCACCATTGCCATCTTAGAAGATGATGAACTGGCTCTGGATATTGAAGACCTA
  2221 TTAAGTTTTTCTTACCAGGTGGCAAAGGGAATGAGCTTTCTGTCCTCGAAAAATTGCATC
  2281 CATAGAGACTTGGCAGCACGCAACATCCTGCTCACTCATGGACGGATCACAAAAATCTGT
  2341 GACTTTGGTCTTGCAAGAGACATTAGGAATGACTCAAACTATGTTGTCAAAGGAAATGCA
  2401 CGACTTCCTGTCAAGTGGATGGCACCTGAAAGCATTTTTGAGTGTGTATACACATTTGAG
  2461 AGTGATGTCTGGTCTTATGGAATTTTGCTTTGGGAACTCTTCTCTCTAGGAGGCAGCCCC
  2521 TATCCTGGAATGCCTGTGGATTCCAAGTTCTATAAAAGGATTAAGGAAGGATACAGGATG
  2581 TTTAGCCCAGAATTTGCACCTGCTGAAATGTATGAGATAATGAAGAGTTGTTGGGATGTT
  2641 GATCCTGTAAAGAGACCAACCTTTAAGCAAGTTGTACAACTGATTGAACAACAGATTTCA
  2701 GATACTACAAACCATATTTACTCAAATGTTACAAGCGGCATTTGCAGTCAAGGAAATGGT
  2761 ACAGATCATTCTGCAAGAATCAACTCAGTGGGCAGCAGTGCTTCGTTTACTCAGCCTCTC
  2821 CTCACACATGAAGATGTTTGA

Predicted Protein Product
PSITPEESPLVVNSGQELRLFCRDDSAVTWHIQNADPSALPKHLRSQELYINAVGPRDTG
TYTCKDKEGLNDSIYVFVKDPKVLFFHESVAYAVEDSDALIQCPVTDPEISNFTLKRCKN
AKSLPENIVLKPDPQKGITIKNVQRSFLGCYQCVAQHNGVEKQSEAINLFVRPVHKSLPV
ITLSKADQLLKEGEEFEVMCTIRDVDSTLRANWIVQTNVQATSVPEELKQNLTSKSKNVG
DYGYEQKLTLSIRSVGVNDSGAFTCQGSNPFGTSNVTITLTVLGKGYVSLSTSTDSTVHV
NDGENLALIVTYEAYPKPEEEIWMYMNETLQNSSDHYVRVTNIDRNRHSSELHLTRLKGT
EGGIYTFFVSNSDANSSIAFNVYVNTKPEIVTSERLSNGMLHCVASGYPAPTINWYICPG
TEQRCSDSSNISPVDVKTSYNDSPFPSFGKVVVESTIDASMFKNNGTITCEASNSIDRRT
AYFNFAVKEQISTHTLFTPLLIGFGVAAGLMCITVIVLVYKYLQKPKYEIQWKVVDEING
NNYVYIDPTQLPYDDKWEFPRNRLIFGKTLGAGAFGKVVEATAYGLFKPDGGLRVAVKML
KPSAHFTEKEALMSELKVLSYLGNHINIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRK
RDSFICPKHEETAVYKNLLHQKEHMYDATNEYMDMKPGVSKVVHAKTAKRSPGRTGSFVN
QDVTIAILEDDELALDIEDLLSFSYQVAKGMSFLSSKNCIHRDLAARNILLTHGRITKIC
DFGLARDIRNDSNYVVKGNARLPVKWMAPESIFECVYTFESDVWSYGILLWELFSLGGSP
YPGMPVDSKFYKRIKEGYRMFSPEFAPAEMYEIMKSCWDVDPVKRPTFKQVVQLIEQQIS
DTTNHIYSNVTSGICSQGNGTDHSARINSVGSSASFTQPLLTHEDV
Protein Alignment to Mouse
sp|P05532|KIT_MOUSE Mast/stem cell growth factor receptor OS=Mus musculus
            GN=Kit PE=1 SV=2
      MGI:96677 Kit kit oncogene (Chr 5)
        Length = 975

 Score = 3035 (1073.4 bits), Expect = 3.5e-317, P = 3.5e-317
 Identities = 591/951 (62%), Positives = 717/951 (75%)

Query:     1 PSITPEESPLVVNSGQELRLFCRDDSAVTWHIQNADPSALPKHLRSQELYINAVGPRDTG 60
             PSI P +S L+V +G  L L C D   V W  +    + + ++ +++ +   A   R TG
Sbjct:    37 PSIHPAQSELIVEAGDTLSLTCIDPDFVRWTFKTYF-NEMVENKKNEWIQEKAEATR-TG 94

Query:    61 TYTCKDKEGLNDSIYVFVKDPKVLFFHESVAYAVEDSDALIQCPVTDPEISNFTLKRCKN 120
             TYTC +  GL  SIYVFV+DP  LF      +  EDSDAL++CP+TDP++SN++L  C +
Sbjct:    95 TYTCSNSNGLTSSIYVFVRDPAKLFLVGLPLFGKEDSDALVRCPLTDPQVSNYSLIEC-D 153

Query:   121 AKSLPENIVLKPDPQKGITIKNVQRSFLG-CYQCVAQHNGVEKQSEAINLFVRPVHKSLP 179
              KSLP ++   P+P+ GITIKNV+R++   C +C AQ +G    S+   L VR   K++P
Sbjct:   154 GKSLPTDLTFVPNPKAGITIKNVKRAYHRLCVRCAAQRDGTWLHSDKFTLKVRAAIKAIP 213

Query:   180 VITLSKADQLLKEGEEFEVMCTIRDVDSTLRANWIVQTNVQATSVPEELKQNLTSKSKNV 239
             V+++ +   LLK+G+ F V+CTI+DV +++ + W+ + N Q    P+ + Q +   S + 
Sbjct:   214 VVSVPETSHLLKKGDTFTVVCTIKDVSTSVNSMWL-KMNPQ----PQHIAQ-VKHNSWHR 267

Query:   240 GDYGYEQKLTLSIRSVGVNDSGAFTCQGSNPFGTSNVTITLTVLGKGYVSLSTSTDSTVH 299
             GD+ YE++ TL+I S  V+DSG F C  +N FG++NVT TL V+ KG++++S   ++TV 
Sbjct:   268 GDFNYERQETLTISSARVDDSGVFMCYANNTFGSANVTTTLKVVEKGFINISPVKNTTVF 327

Query:   300 VNDGENLALIVTYEAYPKPEEEIWMYMNETLQNSSDHYVRVTNIDRNRHSSELHLTRLKG 359
             V DGEN+ L+V YEAYPKPE + W+YMN T  N    YV+  N    R+ ++L LTRLKG
Sbjct:   328 VTDGENVDLVVEYEAYPKPEHQQWIYMNRTSANKGKDYVKSDNKSNIRYVNQLRLTRLKG 387

Query:   360 TEGGIYTFFVSNSDANSSIAFNVYVNTKPEIVTSERLSNGMLHCVASGYPAPTINWYICP 419
             TEGG YTF VSNSDA++S+ FNVYVNTKPEI+T +RL NGML CVA G+P PTI+WY C 
Sbjct:   388 TEGGTYTFLVSNSDASASVTFNVYVNTKPEILTYDRLINGMLQCVAEGFPEPTIDWYFCT 447

Query:   420 GTEQRCSDSSNISPVDVKTSYNDSPFPSFGKVVVESTIDASMFKNNGTITCEASNSIDRR 479
             G EQRC+  + +SPVDV+   N S  P FGK+VV+S+ID+S+F++NGT+ C+ASN + + 
Sbjct:   448 GAEQRCT--TPVSPVDVQVQ-NVSVSP-FGKLVVQSSIDSSVFRHNGTVECKASNDVGKS 503

Query:   480 TAYFNFAVKEQISTHTLFTPLLIGFGVAAGLMCITVIVLVYKYLQKPKYEIQWKVVDEIN 539
             +A+FNFA KEQI  HTLFTPLLIGF VAAG M I V+VL YKYLQKP YE+QWKVV+EIN
Sbjct:   504 SAFFNFAFKEQIQAHTLFTPLLIGFVVAAGAMGIIVMVLTYKYLQKPMYEVQWKVVEEIN 563

Query:   540 GNNYVYIDPTQLPYDDKWEFPRNRLIFGKTLGAGAFGKVVEATAYGLFKPDGGLRVAVKM 599
             GNNYVYIDPTQLPYD KWEFPRNRL FGKTLGAGAFGKVVEATAYGL K D  + VAVKM
Sbjct:   564 GNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKM 623

Query:   600 LKPSAHFTEKEALMSELKVLSYLGNHINIVNLLGACTIGGPTLVITEYCCYGDLLNFLRR 659
             LKPSAH TE+EALMSELKVLSYLGNH+NIVNLLGACT+GGPTLVITEYCCYGDLLNFLRR
Sbjct:   624 LKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTVGGPTLVITEYCCYGDLLNFLRR 683

Query:   660 KRDSFICPKHEE---TAVYKNLLHQKEHMYDATNEYMDMKPGVSKVVHAKTAKRSPGRTG 716
             KRDSFI  K EE    A+YKNLLH  E   D++NEYMDMKPGVS VV  KT KR   R  
Sbjct:   684 KRDSFIFSKQEEQAEAALYKNLLHSTEPSCDSSNEYMDMKPGVSYVVPTKTDKRRSARID 743

Query:   717 SFVNQDVTXXXXXXXXXXXXXXXXXSFSYQVAKGMSFLSSKNCIHRDLAARNILLTHGRI 776
             S++ +DVT                 SFSYQVAKGM+FL+SKNCIHRDLAARNILLTHGRI
Sbjct:   744 SYIERDVTPAIMEDDELALDLDDLLSFSYQVAKGMAFLASKNCIHRDLAARNILLTHGRI 803

Query:   777 TKICDFGLARDIRNDSNYVVKGNARLPVKWMAPESIFECVYTFESDVWSYGILLWELFSL 836
             TKICDFGLARDIRNDSNYVVKGNARLPVKWMAPESIF CVYTFESDVWSYGI LWELFSL
Sbjct:   804 TKICDFGLARDIRNDSNYVVKGNARLPVKWMAPESIFSCVYTFESDVWSYGIFLWELFSL 863

Query:   837 GGSPYPGMPVDSKFYKRIKEGYRMFSPEFAPAEMYEIMKSCWDVDPVKRPTFKQVVQLIE 896
             G SPYPGMPVDSKFYK IKEG+RM SPE APAEMY++MK+CWD DP+KRPTFKQVVQLIE
Sbjct:   864 GSSPYPGMPVDSKFYKMIKEGFRMVSPEHAPAEMYDVMKTCWDADPLKRPTFKQVVQLIE 923

Query:   897 QQISDTTNHIYSNVTSGICSQGNGT--DHSARINSVGSSASFTQPLLTHED 945
             +QISD+T HIYSN+ +   +  N    DHS R+NSVGSSAS TQPLL HED
Sbjct:   924 KQISDSTKHIYSNLANCNPNPENPVVVDHSVRVNSVGSSASSTQPLLVHED 974