Basic information
Official Symbol SPINT1
Descriptionserine peptidase inhibitor, Kunitz type 1
Other AliasesUNQ223/PRO256, HAI, HAI1, MANSC2
Other DescriptionHAI-1; hepatocyte growth factor activator inhibitor type 1; kunitz-type protease inhibitor 1; serine protease inhibitor, Kunitz type 1
Mutation typepremature termination 321:G->TAG
LocationScaffold000605_1:2681750 2677916 -

  ±  bp flank
WikiWikipedia GeneCard
Sequence
SPINT1
GTCCAGCCCCAGGAACCCGTGGTGCTGAAGGGTATGAACTACACAAACTG
GCACCTGCTGAAGGGCGACACAGATGTCAGGATAGAGAGGAATGATCCAG
ACCAGGTGGAGCTGTGGGGACTCAAGGAAGGCACCTACCTGTTCGAACTG
ACCCTGCTGGACTCAGACCAGCCCGAGAACACGGCCAATGTCACGGTCAT
CGTGCTGTCCGCCAGGCAGACAGAAGACTACTGCCTCGCCACCAGCAAGG
TGGGCCGCTGCCGGGGTGCCTTCCCCCGCTGGTACTATGACCCCAGAGAA
CAGATCTGCAAGCGTTTCATCTATGGAGGTTGCTTGGGCAACAAGAACAA
CTACTTTTGGGAAGAAGAGTGCATGCTAGCCTGCCGGGATGTGCAAGGTA
GGCCTTGGAAGGCAGCTCTGGGCTCAGGGGACTTTGCCCCGGGGTAGTGG
TCTTTCCCTGCCACACACGCAGTATGCTCTGGCACCTGTCACCCGAGCCA
GTTCCGCTGTGGTGACGGCTGCTGCATCGATGGCTTCCTGGAGTGTGACG
ACACCCCCGACTGCTCTGACGCCTCTGATGAGGCCGCCTGTGAAAAATGT
GAGAGGTCCCAGCGCTCATGCGCCCCTCTGCCTGCCCCTTGCCCCCCAGG
GCACTGCATGGAGCAGCCAGATACAGGACTCTGCCAGGAGAGCATCCCCC
GCTGGTACTACAACCCCTTCATGGAGAGCTGCGCCCTCTTCACCTATGGC
GGCTGTTACGGCAACAAGAACAACTTCGAGGAGGAGCAGCAGTGCCTGGA
GTCCTGTCGCGGCATCTCCAGTGAGCGGGACGGTGGGGGTGGGAAGGACG
CGCCCCTTCTCCCCGCAGGCTCTGTGGAGGTTGCCATCGCAGTCCTCCTG
GGCACCTGCATCGTGGTAGTGGTAGCCATTCTGGGATACTGCTTCTTCAA
GAACCAGAAGAAGGGCTTCCGCAGACACCACCACCGCCACCACCCACCCT
CCACCCCTGCCAGCTCCACCATCTCCACCACCGAGGACACGGAGCACCTG
GTCTATAATCACACAACCCGACCCCTC

Alignment
Align speciePep lengthPep align beginPep align endMutaion type and postion
Human529173529Premature termination 321:G->TAG
 Instructions:
 *** -> premature termination codon;  # -> frame shift 

 Alignment:
 Human     pep sequence --->
 ||||||||||||||||||||||
 Treeshrew pep sequence --->
 Treeshrew cds sequence --->
  
ValGlnProGlnGluProLeuValLeuLysAspValGluAsnThrAspTrpArgLeuLeuAr
||||||||||||||||||   |||||||||            |||   |||   ||||||  
ValGlnProGlnGluProValValLeuLysGlyMetAsnTyrThrAsnTrpHisLeuLeuLy
GTCCAGCCCCAGGAACCCGTGGTGCTGAAGGGTATGAACTACACAAACTGGCACCTGCTGAA

gGlyAspThrAspValArgValGlu  >>>> Target Intron 1 >>>>  ArgLysAs
 ||||||||||||||||||   |||            223 bp           |||   ||
sGlyAspThrAspValArgIleGlu++                         ++ArgAsnAs
GGGCGACACAGATGTCAGGATAGAGgt                         agAGGAATGA

pProAsnGlnValGluLeuTrpGlyLeuLysGluGlyThrTyrLeuPheGlnLeuThrValT
||||   ||||||||||||||||||||||||||||||||||||||||||   ||||||    
pProAspGlnValGluLeuTrpGlyLeuLysGluGlyThrTyrLeuPheGluLeuThrLeuL
TCCAGACCAGGTGGAGCTGTGGGGACTCAAGGAAGGCACCTACCTGTTCGAACTGACCCTGC

hrSerSerAspHisProGluAspThrAlaAsnValThrValThrValLeuSerThrLysGln
     ||||||   ||||||   ||||||||||||||||||   |||||||||      |||
euAspSerAspGlnProGluAsnThrAlaAsnValThrValIleValLeuSerAlaArgGln
TGGACTCAGACCAGCCCGAGAACACGGCCAATGTCACGGTCATCGTGCTGTCCGCCAGGCAG

ThrGlu{A}  >>>> Target Intron 2 >>>>  {sp}TyrCysLeuAlaSerAsnLy
||||||{|}            79 bp            {||}||||||||||||      ||
ThrGlu{A}++                         ++{sp}TyrCysLeuAlaThrSerLy
ACAGAA{G}gt                         ag{AC}TACTGCCTCGCCACCAGCAA

sValGlyArgCysArgGlySerPheProArgTrpTyrTyrAspProThrGluGlnIleCysL
|||||||||||||||||||   ||||||||||||||||||||||||   |||||||||||||
sValGlyArgCysArgGlyAlaPheProArgTrpTyrTyrAspProArgGluGlnIleCysL
GGTGGGCCGCTGCCGGGGTGCCTTCCCCCGCTGGTACTATGACCCCAGAGAACAGATCTGCA

ysSerPheValTyrGlyGlyCysLeuGlyAsnLysAsnAsnTyrLeuArgGluGluGluCys
||   |||   |||||||||||||||||||||||||||||||||      ||||||||||||
ysArgPheIleTyrGlyGlyCysLeuGlyAsnLysAsnAsnTyrPheTrpGluGluGluCys
AGCGTTTCATCTATGGAGGTTGCTTGGGCAACAAGAACAACTACTTTTGGGAAGAAGAGTGC

IleLeuAlaCysArgGlyValGlnGlyGlyProLeuArgGlySerSerGlyAlaGlnAlaTh
   ||||||||||||   |||||||||   |||               |||           
MetLeuAlaCysArgAspValGlnGlyArgProTrpLysAlaAlaLeuGlySerGlyAspPh
ATGCTAGCCTGCCGGGATGTGCAAGGTAGGCCTTGGAAGGCAGCTCTGGGCTCAGGGGACTT

rPheProGlnGlyProSerMetGlu{A}  >>>> Target Intron 3 >>>>  {rg}A
    |||         |||      { }            480 bp           {  } 
eAlaProGly***TrpSerPhePro{A}++                         --{la}T
TGCCCCGGGGTAGTGGTCTTTCCCT{G}gt                         cc{CC}A

rgHisProValCysSerGlyThrCysGlnProThrGlnPheArgCysSerAsnGlyCysCys
  |||   ||||||||||||||||||   |||   ||||||||||||      |||||||||
hrHisAlaValCysSerGlyThrCysHisProSerGlnPheArgCysGlyAspGlyCysCys
CACACGCAGTATGCTCTGGCACCTGTCACCCGAGCCAGTTCCGCTGTGGTGACGGCTGCTGC

IleAspSerPheLeuGluCysAspAspThrProAsnCysProAspAlaSerAspGluAlaAl
||||||   ||||||||||||||||||||||||   |||   ||||||||||||||||||||
IleAspGlyPheLeuGluCysAspAspThrProAspCysSerAspAlaSerAspGluAlaAl
ATCGATGGCTTCCTGGAGTGTGACGACACCCCCGACTGCTCTGACGCCTCTGATGAGGCCGC

aCysGluLysTyrThr  >>>> Target Intron 4 >>>>  SerGlyPheAspGluLe
||||||||||                 1361 bp                            
aCysGluLysCysGlu++                         ++ArgSerGlnArgSerCy
CTGTGAAAAATGTGAGgt                         agAGGTCCCAGCGCTCATG

uGlnArgIleHisPheProSerAspLysGlyHisCysValAspLeuProAspThrGlyLeuC
                |||         |||||||||         ||||||||||||||||
sAlaProLeuProAlaProCysProProGlyHisCysMetGluGlnProAspThrGlyLeuC
CGCCCCTCTGCCTGCCCCTTGCCCCCCAGGGCACTGCATGGAGCAGCCAGATACAGGACTCT

ysLysGluSerIleProArgTrpTyrTyrAsnProPheSerGluHisCysAlaArgPheThr
||   |||||||||||||||||||||||||||||||||   |||   ||||||   ||||||
ysGlnGluSerIleProArgTrpTyrTyrAsnProPheMetGluSerCysAlaLeuPheThr
GCCAGGAGAGCATCCCCCGCTGGTACTACAACCCCTTCATGGAGAGCTGCGCCCTCTTCACC

TyrGlyGlyCysTyrGlyAsnLysAsnAsnPheGluGluGluGlnGlnCysLeuGluSerCy
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
TyrGlyGlyCysTyrGlyAsnLysAsnAsnPheGluGluGluGlnGlnCysLeuGluSerCy
TATGGCGGCTGTTACGGCAACAAGAACAACTTCGAGGAGGAGCAGCAGTGCCTGGAGTCCTG

sArgGlyIleSerLysLysAspValPheGlyLeuArgArg{G}  >>>> Target Intro
|||||||||||||               |||         { }            615 bp 
sArgGlyIleSerSerGluArgAspGlyGlyGlyGlyLys{A}++                 
TCGCGGCATCTCCAGTGAGCGGGACGGTGGGGGTGGGAAG{G}gt                 

n 5 >>>>  {lu}IleProIleProSerThrGlySerValGluMetAlaValAlaValPhe
          {  }   |||            ||||||||||||   |||   ||||||   
        --{sp}AlaProLeuLeuProAlaGlySerValGluValAlaIleAlaValLeu
        tc{AC}GCGCCCCTTCTCCCCGCAGGCTCTGTGGAGGTTGCCATCGCAGTCCTC

LeuValIleCysIleValValValValAlaIleLeuGlyTyrCysPhePheLysAsnGlnAr
|||      |||||||||||||||||||||||||||||||||||||||||||||||||||  
LeuGlyThrCysIleValValValValAlaIleLeuGlyTyrCysPhePheLysAsnGlnLy
CTGGGCACCTGCATCGTGGTAGTGGTAGCCATTCTGGGATACTGCTTCTTCAAGAACCAGAA

gLysAspPhe<-><->HisGlyHisHisHisHisProProProThrProAlaSerSerThrV
 |||   |||      |||   |||   ||||||||||||   |||||||||||||||||| 
sLysGlyPheArgArgHisHisHisArgHisHisProProSerThrProAlaSerSerThrI
GAAGGGCTTCCGCAGACACCACCACCGCCACCACCCACCCTCCACCCCTGCCAGCTCCACCA

alSerThrThrGluAspThrGluHisLeuValTyrAsnHisThrThrArgProLeu
  ||||||||||||||||||||||||||||||||||||||||||||||||||||||
leSerThrThrGluAspThrGluHisLeuValTyrAsnHisThrThrArgProLeu
TCTCCACCACCGAGGACACGGAGCACCTGGTCTATAATCACACAACCCGACCCCTC


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