SCPEP1 (serine carboxypeptidase 1) - Rat Genome Database

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Gene: SCPEP1 (serine carboxypeptidase 1) Homo sapiens
Analyze
Symbol: SCPEP1
Name: serine carboxypeptidase 1
RGD ID: 1351146
HGNC Page HGNC:29507
Description: Predicted to enable serine-type carboxypeptidase activity. Predicted to be involved in negative regulation of blood pressure and retinoic acid metabolic process. Predicted to act upstream of or within blood vessel diameter maintenance. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: HSCP1; retinoid inducible serine carboxypeptidase; retinoid-inducible serine carboxypeptidase; RISC; serine carboxypeptidase 1 precursor protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,978,131 - 57,006,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1756,978,129 - 57,006,768 (+)EnsemblGRCh38hg38GRCh38
GRCh371755,055,492 - 55,084,129 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361752,410,467 - 52,439,128 (+)NCBINCBI36Build 36hg18NCBI36
Build 341752,410,487 - 52,439,123NCBI
Celera1751,517,044 - 51,545,707 (+)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1750,416,496 - 50,445,158 (+)NCBIHuRef
CHM1_11755,120,690 - 55,149,356 (+)NCBICHM1_1
T2T-CHM13v2.01757,855,772 - 57,884,410 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
acetamide  (ISO)
aconitine  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
bortezomib  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glycidyl methacrylate  (EXP)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
lithium chloride  (EXP)
Mesaconitine  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
piperonyl butoxide  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
Soman  (ISO)
T-2 toxin  (EXP)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Cloning of a novel retinoid-inducible serine carboxypeptidase from vascular smooth muscle cells. Chen J, etal., J Biol Chem 2001 Sep 7;276(36):34175-81.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:12754519   PMID:12975309   PMID:14702039   PMID:15340161   PMID:15489334   PMID:17207965   PMID:19056867   PMID:19199708   PMID:21873635   PMID:21935400   PMID:22863883  
PMID:23376485   PMID:23533145   PMID:24530914   PMID:26344197   PMID:28380382   PMID:28514442   PMID:30097533   PMID:30561431   PMID:30948266   PMID:31560077   PMID:33961781   PMID:34597346  
PMID:34672954   PMID:35007762   PMID:35271311   PMID:35446349   PMID:35696571   PMID:35831314   PMID:37827155  


Genomics

Comparative Map Data
SCPEP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381756,978,131 - 57,006,768 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1756,978,129 - 57,006,768 (+)EnsemblGRCh38hg38GRCh38
GRCh371755,055,492 - 55,084,129 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361752,410,467 - 52,439,128 (+)NCBINCBI36Build 36hg18NCBI36
Build 341752,410,487 - 52,439,123NCBI
Celera1751,517,044 - 51,545,707 (+)NCBICelera
Cytogenetic Map17q22NCBI
HuRef1750,416,496 - 50,445,158 (+)NCBIHuRef
CHM1_11755,120,690 - 55,149,356 (+)NCBICHM1_1
T2T-CHM13v2.01757,855,772 - 57,884,410 (+)NCBIT2T-CHM13v2.0
Scpep1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391188,814,846 - 88,846,268 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1188,814,846 - 88,846,291 (-)EnsemblGRCm39 Ensembl
GRCm381188,924,020 - 88,955,442 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1188,924,020 - 88,955,465 (-)EnsemblGRCm38mm10GRCm38
MGSCv371188,785,334 - 88,816,756 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361188,740,110 - 88,771,522 (-)NCBIMGSCv36mm8
Celera1198,535,098 - 98,568,204 (-)NCBICelera
Cytogenetic Map11CNCBI
cM Map1154.34NCBI
Scpep1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81074,200,491 - 74,230,107 (-)NCBIGRCr8
mRatBN7.21073,703,275 - 73,732,892 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1073,703,278 - 73,732,850 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1078,318,490 - 78,347,988 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01077,823,415 - 77,852,910 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01073,286,585 - 73,316,078 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01076,230,371 - 76,263,866 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1076,230,373 - 76,263,866 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01073,846,394 - 73,880,406 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41077,347,473 - 77,377,945 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11077,361,844 - 77,392,315 (-)NCBI
Celera1072,609,315 - 72,638,737 (-)NCBICelera
Cytogenetic Map10q26NCBI
Scpep1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554515,846,552 - 5,876,851 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554515,847,371 - 5,876,286 (-)NCBIChiLan1.0ChiLan1.0
SCPEP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21973,151,012 - 73,179,770 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11777,961,953 - 77,990,686 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01751,055,293 - 51,084,032 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11755,915,746 - 55,944,374 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1755,915,746 - 55,944,377 (+)Ensemblpanpan1.1panPan2
SCPEP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1931,770,494 - 31,803,741 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl931,774,602 - 31,803,741 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha931,010,418 - 31,043,464 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0932,578,347 - 32,611,364 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl932,578,396 - 32,611,601 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1931,363,955 - 31,397,132 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0931,647,649 - 31,680,837 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0931,731,073 - 31,764,270 (+)NCBIUU_Cfam_GSD_1.0
Scpep1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560231,143,599 - 31,171,166 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364905,904,396 - 5,939,915 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364905,903,884 - 5,939,953 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCPEP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1233,265,562 - 33,298,142 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11233,265,509 - 33,296,805 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21233,995,016 - 34,027,373 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SCPEP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11636,398,059 - 36,427,429 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1636,398,615 - 36,427,404 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660777,216,719 - 7,246,075 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Scpep1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479512,016,302 - 12,042,353 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479512,016,363 - 12,041,615 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SCPEP1
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q22(chr17:56958745-58171125)x1 copy number loss See cases [RCV000053434] Chr17:56958745..58171125 [GRCh38]
Chr17:55036106..56248486 [GRCh37]
Chr17:52391105..53603485 [NCBI36]
Chr17:17q22		 pathogenic
NM_021626.2(SCPEP1):c.450C>T (p.Phe150=) single nucleotide variant Malignant melanoma [RCV000063259] Chr17:56987829 [GRCh38]
Chr17:55065190 [GRCh37]
Chr17:52420189 [NCBI36]
Chr17:17q22		 not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q22(chr17:56683505-58084939)x1 copy number loss See cases [RCV000135409] Chr17:56683505..58084939 [GRCh38]
Chr17:54760866..56162300 [GRCh37]
Chr17:52115865..53517299 [NCBI36]
Chr17:17q22		 pathogenic
GRCh37/hg19 17q22(chr17:52189051-57477162)x3 copy number gain See cases [RCV000448801] Chr17:52189051..57477162 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3 copy number gain See cases [RCV000448805] Chr17:49076980..58740945 [GRCh37]
Chr17:17q21.33-23.2		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_021626.3(SCPEP1):c.1151G>A (p.Arg384Gln) single nucleotide variant not specified [RCV004331912] Chr17:57002036 [GRCh38]
Chr17:55079397 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.323C>A (p.Ala108Asp) single nucleotide variant not specified [RCV004324013] Chr17:56987702 [GRCh38]
Chr17:55065063 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.557G>A (p.Arg186Gln) single nucleotide variant not specified [RCV004295762] Chr17:56991109 [GRCh38]
Chr17:55068470 [GRCh37]
Chr17:17q22		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q22(chr17:54584318-55220914)x1 copy number loss not provided [RCV000683944] Chr17:54584318..55220914 [GRCh37]
Chr17:17q22		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NC_000017.10:g.(?_54671585)_(59938900_?)dup duplication Familial aplasia of the vermis [RCV001923071] Chr17:54671585..59938900 [GRCh37]
Chr17:17q22-23.2		 uncertain significance
GRCh37/hg19 17q22(chr17:55043662-56728123)x1 copy number loss See cases [RCV002292214] Chr17:55043662..56728123 [GRCh37]
Chr17:17q22		 pathogenic
NM_021626.3(SCPEP1):c.1342G>A (p.Val448Met) single nucleotide variant not specified [RCV004206330] Chr17:57006218 [GRCh38]
Chr17:55083579 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.850T>G (p.Ser284Ala) single nucleotide variant not specified [RCV004235715] Chr17:56997025 [GRCh38]
Chr17:55074386 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1294A>G (p.Met432Val) single nucleotide variant not specified [RCV004161970] Chr17:57002179 [GRCh38]
Chr17:55079540 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.545A>T (p.Lys182Met) single nucleotide variant not specified [RCV004184215] Chr17:56988289 [GRCh38]
Chr17:55065650 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1117A>T (p.Ile373Phe) single nucleotide variant not specified [RCV004206939] Chr17:57000977 [GRCh38]
Chr17:55078338 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1120G>A (p.Val374Ile) single nucleotide variant not specified [RCV004204645] Chr17:57000980 [GRCh38]
Chr17:55078341 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.581C>T (p.Ala194Val) single nucleotide variant not specified [RCV004232977] Chr17:56991133 [GRCh38]
Chr17:55068494 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.86T>C (p.Ile29Thr) single nucleotide variant not specified [RCV004159784] Chr17:56981091 [GRCh38]
Chr17:55058452 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.896G>A (p.Arg299His) single nucleotide variant not specified [RCV004197816] Chr17:56998400 [GRCh38]
Chr17:55075761 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1049T>C (p.Ile350Thr) single nucleotide variant not specified [RCV004193704] Chr17:57000909 [GRCh38]
Chr17:55078270 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1063G>A (p.Glu355Lys) single nucleotide variant not specified [RCV004078084] Chr17:57000923 [GRCh38]
Chr17:55078284 [GRCh37]
Chr17:17q22		 likely benign
NM_021626.3(SCPEP1):c.310A>G (p.Thr104Ala) single nucleotide variant not specified [RCV004221264] Chr17:56985462 [GRCh38]
Chr17:55062823 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.311C>G (p.Thr104Ser) single nucleotide variant not specified [RCV004341321] Chr17:56985463 [GRCh38]
Chr17:55062824 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1351C>A (p.Gln451Lys) single nucleotide variant not specified [RCV004356187] Chr17:57006227 [GRCh38]
Chr17:55083588 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1172T>G (p.Leu391Arg) single nucleotide variant not specified [RCV004340007] Chr17:57002057 [GRCh38]
Chr17:55079418 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.100G>C (p.Glu34Gln) single nucleotide variant not specified [RCV004455018] Chr17:56981105 [GRCh38]
Chr17:55058466 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1208A>G (p.Tyr403Cys) single nucleotide variant not specified [RCV004455020] Chr17:57002093 [GRCh38]
Chr17:55079454 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.411G>A (p.Met137Ile) single nucleotide variant not specified [RCV004455024] Chr17:56987790 [GRCh38]
Chr17:55065151 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.413T>A (p.Val138Glu) single nucleotide variant not specified [RCV004455025] Chr17:56987792 [GRCh38]
Chr17:55065153 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.755T>A (p.Leu252Gln) single nucleotide variant not specified [RCV004455028] Chr17:56995604 [GRCh38]
Chr17:55072965 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.779T>C (p.Ile260Thr) single nucleotide variant not specified [RCV004455029] Chr17:56995628 [GRCh38]
Chr17:55072989 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.917G>A (p.Arg306Gln) single nucleotide variant not specified [RCV004455030] Chr17:56998421 [GRCh38]
Chr17:55075782 [GRCh37]
Chr17:17q22		 likely benign
NM_021626.3(SCPEP1):c.233C>T (p.Pro78Leu) single nucleotide variant not specified [RCV004455021] Chr17:56985385 [GRCh38]
Chr17:55062746 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1087G>A (p.Val363Met) single nucleotide variant not specified [RCV004455019] Chr17:57000947 [GRCh38]
Chr17:55078308 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.304A>G (p.Lys102Glu) single nucleotide variant not specified [RCV004455023] Chr17:56985456 [GRCh38]
Chr17:55062817 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.610T>C (p.Ser204Pro) single nucleotide variant not specified [RCV004455026] Chr17:56991162 [GRCh38]
Chr17:55068523 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.302G>A (p.Arg101Gln) single nucleotide variant not specified [RCV004455022] Chr17:56985454 [GRCh38]
Chr17:55062815 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.667G>A (p.Glu223Lys) single nucleotide variant not specified [RCV004455027] Chr17:56995516 [GRCh38]
Chr17:55072877 [GRCh37]
Chr17:17q22		 uncertain significance
NC_000017.10:g.(?_54671585)_(55927371_?)del deletion not provided [RCV004581399] Chr17:54671585..55927371 [GRCh37]
Chr17:17q22		 pathogenic
NM_021626.3(SCPEP1):c.602C>A (p.Ser201Tyr) single nucleotide variant not specified [RCV004658841] Chr17:56991154 [GRCh38]
Chr17:55068515 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.398A>G (p.Lys133Arg) single nucleotide variant not specified [RCV004674627] Chr17:56987777 [GRCh38]
Chr17:55065138 [GRCh37]
Chr17:17q22		 uncertain significance
NM_021626.3(SCPEP1):c.1091C>T (p.Thr364Met) single nucleotide variant not specified [RCV004674628] Chr17:57000951 [GRCh38]
Chr17:55078312 [GRCh37]
Chr17:17q22		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2757
Count of miRNA genes:978
Interacting mature miRNAs:1148
Transcripts:ENST00000262288, ENST00000570479, ENST00000570480, ENST00000570505, ENST00000570589, ENST00000571345, ENST00000571898, ENST00000572591, ENST00000572710, ENST00000573239, ENST00000573789, ENST00000573823, ENST00000575395, ENST00000575423, ENST00000576154
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406960993GWAS609969_Hprotein measurement QTL GWAS609969 (human)6e-30protein measurement175699822156998222Human
407392896GWAS1041872_Hcolorectal cancer QTL GWAS1041872 (human)0.00001colorectal cancer175699115856991159Human

Markers in Region
G18002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371755,060,040 - 55,060,250UniSTSGRCh37
Build 361752,415,039 - 52,415,249RGDNCBI36
Celera1751,521,615 - 51,521,825RGD
Cytogenetic Map17q22UniSTS
HuRef1750,421,067 - 50,421,277UniSTS
RH92976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371755,083,751 - 55,083,920UniSTSGRCh37
Build 361752,438,750 - 52,438,919RGDNCBI36
Celera1751,545,329 - 51,545,498RGD
Cytogenetic Map17q22UniSTS
HuRef1750,444,780 - 50,444,949UniSTS
GeneMap99-GB4 RH Map17367.84UniSTS
SCPEP1__5557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371755,083,579 - 55,084,269UniSTSGRCh37
Build 361752,438,578 - 52,439,268RGDNCBI36
Celera1751,545,157 - 51,545,847RGD
HuRef1750,444,608 - 50,445,298UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF265441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC344612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262288   ⟹   ENSP00000262288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,131 - 57,006,768 (+)Ensembl
Ensembl Acc Id: ENST00000570479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,998,291 - 57,006,586 (+)Ensembl
Ensembl Acc Id: ENST00000570480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,987,090 - 56,997,102 (+)Ensembl
Ensembl Acc Id: ENST00000570505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,995,560 - 56,998,325 (+)Ensembl
Ensembl Acc Id: ENST00000570589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,987,562 - 56,997,135 (+)Ensembl
Ensembl Acc Id: ENST00000571345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,131 - 56,994,975 (+)Ensembl
Ensembl Acc Id: ENST00000571898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,153 - 56,995,504 (+)Ensembl
Ensembl Acc Id: ENST00000572591   ⟹   ENSP00000459807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,131 - 56,996,996 (+)Ensembl
Ensembl Acc Id: ENST00000572710   ⟹   ENSP00000461663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,134 - 56,991,171 (+)Ensembl
Ensembl Acc Id: ENST00000573239   ⟹   ENSP00000461678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,997,014 - 57,006,758 (+)Ensembl
Ensembl Acc Id: ENST00000573789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,987,752 - 56,995,875 (+)Ensembl
Ensembl Acc Id: ENST00000573823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,137 - 56,987,845 (+)Ensembl
Ensembl Acc Id: ENST00000575395   ⟹   ENSP00000461694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,134 - 56,995,544 (+)Ensembl
Ensembl Acc Id: ENST00000575423   ⟹   ENSP00000458671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,129 - 57,006,605 (+)Ensembl
Ensembl Acc Id: ENST00000576154   ⟹   ENSP00000458587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,148 - 57,006,768 (+)Ensembl
Ensembl Acc Id: ENST00000631024   ⟹   ENSP00000487541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1756,978,160 - 56,995,564 (+)Ensembl
RefSeq Acc Id: NM_021626   ⟹   NP_067639
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,978,131 - 57,006,768 (+)NCBI
GRCh371755,055,468 - 55,084,129 (+)RGD
Build 361752,410,467 - 52,439,128 (+)NCBI Archive
Celera1751,517,044 - 51,545,707 (+)RGD
HuRef1750,416,496 - 50,445,158 (+)RGD
CHM1_11755,120,690 - 55,149,356 (+)NCBI
T2T-CHM13v2.01757,855,772 - 57,884,410 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257557   ⟹   XP_005257614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,978,131 - 57,006,768 (+)NCBI
GRCh371755,055,468 - 55,084,129 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436509   ⟹   XP_047292465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,978,131 - 56,998,486 (+)NCBI
RefSeq Acc Id: XM_054316845   ⟹   XP_054172820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,855,772 - 57,884,410 (+)NCBI
RefSeq Acc Id: XM_054316846   ⟹   XP_054172821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01757,855,772 - 57,876,127 (+)NCBI
RefSeq Acc Id: NP_067639   ⟸   NM_021626
- Peptide Label: precursor
- UniProtKB: Q96A94 (UniProtKB/Swiss-Prot),   Q9H3F0 (UniProtKB/Swiss-Prot),   Q9HB40 (UniProtKB/Swiss-Prot),   B4DP22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257614   ⟸   XM_005257557
- Peptide Label: isoform X1
- UniProtKB: B4DP22 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000459807   ⟸   ENST00000572591
Ensembl Acc Id: ENSP00000461663   ⟸   ENST00000572710
Ensembl Acc Id: ENSP00000461678   ⟸   ENST00000573239
Ensembl Acc Id: ENSP00000461694   ⟸   ENST00000575395
Ensembl Acc Id: ENSP00000458671   ⟸   ENST00000575423
Ensembl Acc Id: ENSP00000458587   ⟸   ENST00000576154
Ensembl Acc Id: ENSP00000262288   ⟸   ENST00000262288
Ensembl Acc Id: ENSP00000487541   ⟸   ENST00000631024
RefSeq Acc Id: XP_047292465   ⟸   XM_047436509
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172820   ⟸   XM_054316845
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172821   ⟸   XM_054316846
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HB40-F1-model_v2 AlphaFold Q9HB40 1-452 view protein structure

Promoters
RGD ID:6794522
Promoter ID:HG_KWN:26651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393142,   NM_021626,   UC010DCL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361752,410,284 - 52,410,784 (+)MPROMDB
RGD ID:6850860
Promoter ID:EP73225
Type:initiation region
Name:HS_RISC
Description:Likely homolog of rat and mouse retinoid-inducible serinecarboxypeptidase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361752,410,491 - 52,410,551EPD
RGD ID:7235759
Promoter ID:EPDNEW_H23624
Type:initiation region
Name:SCPEP1_1
Description:serine carboxypeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381756,978,153 - 56,978,213EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29507 AgrOrtholog
COSMIC SCPEP1 COSMIC
Ensembl Genes ENSG00000121064 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262288 ENTREZGENE
  ENST00000262288.8 UniProtKB/Swiss-Prot
  ENST00000572591.5 UniProtKB/TrEMBL
  ENST00000572710.5 UniProtKB/TrEMBL
  ENST00000573239.1 UniProtKB/TrEMBL
  ENST00000575395.5 UniProtKB/TrEMBL
  ENST00000575423.5 UniProtKB/TrEMBL
  ENST00000576154 ENTREZGENE
  ENST00000576154.5 UniProtKB/Swiss-Prot
  ENST00000631024.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121064 GTEx
HGNC ID HGNC:29507 ENTREZGENE
Human Proteome Map SCPEP1 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_caboxypep_ser_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:59342 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 59342 ENTREZGENE
OMIM 619723 OMIM
PANTHER PTHR11802 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINOID-INDUCIBLE SERINE CARBOXYPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134960711 PharmGKB
PRINTS CRBOXYPTASEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARBOXYPEPT_SER_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DP22 ENTREZGENE, UniProtKB/TrEMBL
  I3L195_HUMAN UniProtKB/TrEMBL
  I3L2N6_HUMAN UniProtKB/TrEMBL
  I3L4Z3_HUMAN UniProtKB/TrEMBL
  I3L4Z9_HUMAN UniProtKB/TrEMBL
  I3L506_HUMAN UniProtKB/TrEMBL
  Q96A94 ENTREZGENE
  Q9H2J9_HUMAN UniProtKB/TrEMBL
  Q9H3F0 ENTREZGENE
  Q9HB40 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q96A94 UniProtKB/Swiss-Prot
  Q9H3F0 UniProtKB/Swiss-Prot