SPINT1 (serine peptidase inhibitor, Kunitz type 1) - Rat Genome Database

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Gene: SPINT1 (serine peptidase inhibitor, Kunitz type 1) Homo sapiens
Analyze
Symbol: SPINT1
Name: serine peptidase inhibitor, Kunitz type 1
RGD ID: 1606832
HGNC Page HGNC
Description: Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in several processes, including negative regulation of endopeptidase activity; negative regulation of neural precursor cell proliferation; and positive regulation of glial cell differentiation. Predicted to act upstream of or within extracellular matrix organization; neural tube closure; and placenta development. Located in extracellular exosome. Biomarker of Alzheimer's disease; biliary atresia; breast cancer; reproductive organ cancer (multiple); and stomach carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HAI; HAI-1; HAI1; hepatocyte growth factor activator inhibitor 1; hepatocyte growth factor activator inhibitor type 1; kunitz-type protease inhibitor 1; MANSC2; serine protease inhibitor, Kunitz type 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1540,844,018 - 40,858,207 (+)EnsemblGRCh38hg38GRCh38
GRCh381540,844,048 - 40,858,207 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371541,136,246 - 41,150,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,923,538 - 38,937,145 (+)NCBINCBI36hg18NCBI36
Celera1517,904,155 - 17,917,761 (+)NCBI
Cytogenetic Map15q15.1NCBI
HuRef1517,956,043 - 17,998,087 (+)NCBIHuRef
CHM1_11541,254,190 - 41,267,796 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Colon cancer  (IAGP)
References

Additional References at PubMed
PMID:9045658   PMID:10219059   PMID:10373425   PMID:10544273   PMID:10824123   PMID:11013244   PMID:11201608   PMID:11290548   PMID:12477932   PMID:12815039   PMID:12975309   PMID:15231748  
PMID:15340161   PMID:15489334   PMID:15713485   PMID:15994391   PMID:16044910   PMID:16103126   PMID:16341674   PMID:16502470   PMID:16713569   PMID:17389401   PMID:17786295   PMID:17981575  
PMID:18029348   PMID:18713750   PMID:18769935   PMID:18813126   PMID:19148468   PMID:19222607   PMID:19223533   PMID:19535514   PMID:19578736   PMID:20213201   PMID:20696767   PMID:20715109  
PMID:20716618   PMID:20977675   PMID:21123732   PMID:21166957   PMID:21795523   PMID:22023801   PMID:22031598   PMID:22118498   PMID:22589738   PMID:23376485   PMID:23393351   PMID:23409135  
PMID:23443661   PMID:23533145   PMID:23979832   PMID:24147538   PMID:24659667   PMID:25464930   PMID:25510835   PMID:25842366   PMID:25925948   PMID:26165838   PMID:26166362   PMID:26186194  
PMID:27226587   PMID:27356668   PMID:27992572   PMID:28348076   PMID:28514442   PMID:28618968   PMID:28710277   PMID:28817220   PMID:29046355   PMID:29202869   PMID:29438412   PMID:29509190  
PMID:29532159   PMID:29721183   PMID:29976755   PMID:30087389   PMID:30945288   PMID:31558918   PMID:32296183   PMID:32415092  


Genomics

Comparative Map Data
SPINT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1540,844,018 - 40,858,207 (+)EnsemblGRCh38hg38GRCh38
GRCh381540,844,048 - 40,858,207 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371541,136,246 - 41,150,405 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361538,923,538 - 38,937,145 (+)NCBINCBI36hg18NCBI36
Celera1517,904,155 - 17,917,761 (+)NCBI
Cytogenetic Map15q15.1NCBI
HuRef1517,956,043 - 17,998,087 (+)NCBIHuRef
CHM1_11541,254,190 - 41,267,796 (+)NCBICHM1_1
Spint1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392119,067,841 - 119,080,016 (+)NCBIGRCm39mm39
GRCm39 Ensembl2119,067,843 - 119,080,008 (+)Ensembl
GRCm382119,237,360 - 119,249,535 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2119,237,362 - 119,249,527 (+)EnsemblGRCm38mm10GRCm38
MGSCv372119,063,096 - 119,075,250 (+)NCBIGRCm37mm9NCBIm37
MGSCv362118,928,918 - 118,940,633 (+)NCBImm8
Celera2120,387,921 - 120,400,196 (+)NCBICelera
Cytogenetic Map2E5NCBI
Spint1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23106,231,082 - 106,244,121 (+)NCBI
Rnor_6.0 Ensembl3111,049,118 - 111,062,011 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03111,049,132 - 111,061,991 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03117,599,717 - 117,612,635 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43105,757,666 - 105,770,345 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13105,654,093 - 105,666,772 (+)NCBI
Celera3105,144,668 - 105,157,338 (+)NCBICelera
Cytogenetic Map3q35NCBI
Spint1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554167,715,536 - 7,729,158 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554167,715,536 - 7,728,759 (+)NCBIChiLan1.0ChiLan1.0
SPINT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11538,036,638 - 38,050,303 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1538,036,638 - 38,050,303 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01519,786,621 - 19,800,297 (+)NCBIMhudiblu_PPA_v0panPan3
SPINT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1307,976,094 - 7,989,019 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl307,975,235 - 7,988,339 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha308,030,789 - 8,043,874 (+)NCBI
ROS_Cfam_1.0308,104,320 - 8,117,280 (+)NCBI
UMICH_Zoey_3.1308,026,984 - 8,039,921 (+)NCBI
UNSW_CanFamBas_1.0308,134,558 - 8,147,504 (+)NCBI
UU_Cfam_GSD_1.0308,264,088 - 8,277,146 (+)NCBI
Spint1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864086,390,799 - 86,403,274 (+)NCBI
SpeTri2.0NW_0049364714,238,883 - 4,251,291 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPINT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1130,458,909 - 130,473,783 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11130,458,909 - 130,473,791 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21145,616,937 - 145,631,763 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPINT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12642,136,749 - 42,150,125 (-)NCBI
ChlSab1.1 Ensembl2642,134,536 - 42,150,118 (-)Ensembl
Vero_WHO_p1.0NW_02366604898,833,369 - 98,846,726 (+)NCBI
Spint1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248048,092,700 - 8,105,478 (+)NCBI

Position Markers
RH80144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,144,877 - 41,145,058UniSTSGRCh37
Build 361538,932,169 - 38,932,350RGDNCBI36
Celera1517,912,785 - 17,912,966RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,993,450 - 17,993,631UniSTS
GeneMap99-GB4 RH Map15146.8UniSTS
RH103600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,150,096 - 41,150,215UniSTSGRCh37
Build 361538,937,388 - 38,937,507RGDNCBI36
Celera1517,918,004 - 17,918,123RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,998,330 - 17,998,449UniSTS
GeneMap99-GB4 RH Map15143.68UniSTS
G62007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,149,643 - 41,149,765UniSTSGRCh37
Build 361538,936,935 - 38,937,057RGDNCBI36
Celera1517,917,551 - 17,917,673RGD
Cytogenetic Map15q15.1UniSTS
HuRef135,143,285 - 35,144,282UniSTS
HuRef1517,997,877 - 17,997,999UniSTS
RH47591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,149,621 - 41,149,765UniSTSGRCh37
Build 361538,936,913 - 38,937,057RGDNCBI36
Celera1517,917,529 - 17,917,673RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,997,855 - 17,997,999UniSTS
GeneMap99-GB4 RH Map15149.24UniSTS
NCBI RH Map1590.1UniSTS
STS-R72769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,149,632 - 41,149,816UniSTSGRCh37
Build 361538,936,924 - 38,937,108RGDNCBI36
Celera1517,917,540 - 17,917,724RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,997,866 - 17,998,050UniSTS
GeneMap99-GB4 RH Map15143.79UniSTS
NCBI RH Map1590.1UniSTS
WI-21808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,106,526 - 41,106,664UniSTSGRCh37
Build 361538,893,818 - 38,893,956RGDNCBI36
Celera1517,874,425 - 17,874,563RGD
Cytogenetic Map15q15.1UniSTS
HuRef1517,954,968 - 17,955,106UniSTS
GeneMap99-GB4 RH Map15145.01UniSTS
Whitehead-RH Map1589.8UniSTS
NCBI RH Map1590.1UniSTS
PPP1R14D_2784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,107,584 - 41,107,982UniSTSGRCh37
Build 361538,894,876 - 38,895,274RGDNCBI36
Celera1517,875,483 - 17,875,881RGD
HuRef1517,956,026 - 17,956,424UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4382
Count of miRNA genes:930
Interacting mature miRNAs:1139
Transcripts:ENST00000344051, ENST00000431806, ENST00000562057, ENST00000563135, ENST00000563656, ENST00000564375, ENST00000566642, ENST00000566928, ENST00000568200, ENST00000568580, ENST00000568823, ENST00000569589
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 9
Medium 973 129 1048 234 799 76 1572 38 690 373 664 1517 172 68 726 6
Low 1390 2311 575 362 1087 361 1909 979 1709 31 772 70 2 1 1094 1238 2
Below cutoff 74 547 103 28 58 28 870 1167 1321 10 11 22 1 41 823

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB000095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI684245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY296715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE871002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM763214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344051   ⟹   ENSP00000342098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,844,018 - 40,858,207 (+)Ensembl
RefSeq Acc Id: ENST00000562057   ⟹   ENSP00000457076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,844,018 - 40,857,655 (+)Ensembl
RefSeq Acc Id: ENST00000563135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,854,210 - 40,857,123 (+)Ensembl
RefSeq Acc Id: ENST00000563656   ⟹   ENSP00000457284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,844,177 - 40,853,873 (+)Ensembl
RefSeq Acc Id: ENST00000564375   ⟹   ENSP00000454315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,853,510 - 40,856,967 (+)Ensembl
RefSeq Acc Id: ENST00000566642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,854,378 - 40,856,021 (+)Ensembl
RefSeq Acc Id: ENST00000566928   ⟹   ENSP00000456015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,853,196 - 40,856,826 (+)Ensembl
RefSeq Acc Id: ENST00000568200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,855,801 - 40,856,899 (+)Ensembl
RefSeq Acc Id: ENST00000568580   ⟹   ENSP00000458074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,844,675 - 40,856,949 (+)Ensembl
RefSeq Acc Id: ENST00000568823   ⟹   ENSP00000456769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,844,067 - 40,853,783 (+)Ensembl
RefSeq Acc Id: ENST00000569589   ⟹   ENSP00000455038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1540,853,816 - 40,856,969 (+)Ensembl
RefSeq Acc Id: NM_001032367   ⟹   NP_001027539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,477 - 40,858,207 (+)NCBI
GRCh371541,136,246 - 41,149,853 (+)ENTREZGENE
Build 361538,923,935 - 38,937,145 (+)NCBI Archive
HuRef1517,956,043 - 17,998,087 (+)ENTREZGENE
CHM1_11541,254,587 - 41,267,796 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386873   ⟹   NP_001373802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,048 - 40,858,207 (+)NCBI
RefSeq Acc Id: NM_001386874   ⟹   NP_001373803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,048 - 40,858,207 (+)NCBI
RefSeq Acc Id: NM_001386875   ⟹   NP_001373804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,048 - 40,858,207 (+)NCBI
RefSeq Acc Id: NM_003710   ⟹   NP_003701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,048 - 40,858,207 (+)NCBI
GRCh371541,136,246 - 41,149,853 (+)ENTREZGENE
Build 361538,923,538 - 38,937,145 (+)NCBI Archive
HuRef1517,956,043 - 17,998,087 (+)ENTREZGENE
CHM1_11541,254,190 - 41,267,796 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181642   ⟹   NP_857593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,048 - 40,858,207 (+)NCBI
GRCh371541,136,246 - 41,149,853 (+)ENTREZGENE
Build 361538,923,538 - 38,937,145 (+)NCBI Archive
HuRef1517,956,043 - 17,998,087 (+)ENTREZGENE
CHM1_11541,254,190 - 41,267,796 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001027539   ⟸   NM_001032367
- Peptide Label: isoform 2 precursor
- UniProtKB: O43278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_857593   ⟸   NM_181642
- Peptide Label: isoform 1 precursor
- UniProtKB: O43278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003701   ⟸   NM_003710
- Peptide Label: isoform 2 precursor
- UniProtKB: O43278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000455038   ⟸   ENST00000569589
RefSeq Acc Id: ENSP00000457076   ⟸   ENST00000562057
RefSeq Acc Id: ENSP00000457284   ⟸   ENST00000563656
RefSeq Acc Id: ENSP00000454315   ⟸   ENST00000564375
RefSeq Acc Id: ENSP00000456015   ⟸   ENST00000566928
RefSeq Acc Id: ENSP00000456769   ⟸   ENST00000568823
RefSeq Acc Id: ENSP00000458074   ⟸   ENST00000568580
RefSeq Acc Id: ENSP00000342098   ⟸   ENST00000344051
RefSeq Acc Id: NP_001373802   ⟸   NM_001386873
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001373803   ⟸   NM_001386874
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001373804   ⟸   NM_001386875
- Peptide Label: isoform 4 precursor
Promoters
RGD ID:6792617
Promoter ID:HG_KWN:21065
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001032367,   NM_003710,   OTTHUMT00000252359
Position:
Human AssemblyChrPosition (strand)Source
Build 361538,923,631 - 38,924,337 (+)MPROMDB
RGD ID:7229141
Promoter ID:EPDNEW_H20316
Type:initiation region
Name:SPINT1_1
Description:serine peptidase inhibitor, Kunitz type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20318  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,048 - 40,844,108EPDNEW
RGD ID:7229143
Promoter ID:EPDNEW_H20318
Type:initiation region
Name:SPINT1_2
Description:serine peptidase inhibitor, Kunitz type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20316  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,844,477 - 40,844,537EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant complex Spindle cell sarcoma [RCV000714282] Chr15:34640169..42054561 [GRCh37]
Chr15:15q14-15.1
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_181642.3(SPINT1):c.1405G>A (p.Ala469Thr) single nucleotide variant not provided [RCV000954289] Chr15:40856790 [GRCh38]
Chr15:41148988 [GRCh37]
Chr15:15q15.1
benign
NM_181642.3(SPINT1):c.1142G>A (p.Arg381His) single nucleotide variant not provided [RCV000886923] Chr15:40854666 [GRCh38]
Chr15:41146864 [GRCh37]
Chr15:15q15.1
benign
NM_181642.3(SPINT1):c.1010C>T (p.Pro337Leu) single nucleotide variant not provided [RCV000969292] Chr15:40854418 [GRCh38]
Chr15:41146616 [GRCh37]
Chr15:15q15.1
benign
GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4 copy number gain not provided [RCV001259208] Chr15:40464942..41196807 [GRCh37]
Chr15:15q15.1
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11246 AgrOrtholog
COSMIC SPINT1 COSMIC
Ensembl Genes ENSG00000166145 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342098 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454315 UniProtKB/TrEMBL
  ENSP00000455038 UniProtKB/TrEMBL
  ENSP00000456015 UniProtKB/TrEMBL
  ENSP00000456769 UniProtKB/TrEMBL
  ENSP00000457076 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000457284 UniProtKB/TrEMBL
  ENSP00000458074 UniProtKB/TrEMBL
Ensembl Transcript ENST00000344051 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000562057 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000563656 UniProtKB/TrEMBL
  ENST00000564375 UniProtKB/TrEMBL
  ENST00000566928 UniProtKB/TrEMBL
  ENST00000568580 UniProtKB/TrEMBL
  ENST00000568823 UniProtKB/TrEMBL
  ENST00000569589 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166145 GTEx
HGNC ID HGNC:11246 ENTREZGENE
Human Proteome Map SPINT1 Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MANSC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MANSC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prtase_inh_Kunz-CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spint1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6692 UniProtKB/Swiss-Prot
NCBI Gene 6692 ENTREZGENE
OMIM 605123 OMIM
PANTHER PTHR46750 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MANEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36076 PharmGKB
PRINTS BASICPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BPTI_KUNITZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPTI_KUNITZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MANSC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MANEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H3BMB6_HUMAN UniProtKB/TrEMBL
  H3BNW5_HUMAN UniProtKB/TrEMBL
  H3BR01_HUMAN UniProtKB/TrEMBL
  H3BSM2_HUMAN UniProtKB/TrEMBL
  H3BTQ8_HUMAN UniProtKB/TrEMBL
  H3BVD9_HUMAN UniProtKB/TrEMBL
  O43278 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q7Z7D2 UniProtKB/Swiss-Prot