PLSCR1 (phospholipid scramblase 1) - Rat Genome Database

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Gene: PLSCR1 (phospholipid scramblase 1) Homo sapiens
Analyze
Symbol: PLSCR1
Name: phospholipid scramblase 1
RGD ID: 1350472
HGNC Page HGNC:9092
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; metal ion binding activity; and signaling receptor binding activity. Involved in several processes, including phosphatidylserine exposure on apoptotic cell surface; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity; and positive regulation of macromolecule biosynthetic process. Located in several cellular components, including membrane raft; nuclear lumen; and perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ca(2+)-dependent phospholipid scramblase 1; erythrocyte phospholipid scramblase; mg(2+)-dependent nuclease; MMTRA1B; PL scramblase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383146,515,180 - 146,544,607 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3146,515,180 - 146,544,856 (-)EnsemblGRCh38hg38GRCh38
GRCh373146,232,967 - 146,262,394 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363147,715,658 - 147,745,186 (-)NCBINCBI36Build 36hg18NCBI36
Build 343147,715,665 - 147,745,194NCBI
Celera3144,649,990 - 144,679,651 (-)NCBICelera
Cytogenetic Map3q24NCBI
HuRef3143,609,792 - 143,639,453 (-)NCBIHuRef
CHM1_13146,196,031 - 146,225,691 (-)NCBICHM1_1
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)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-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
andrographolide  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
beta-carotene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
diclofenac  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
indole-3-methanol  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naphthalenes  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
oxycodone  (ISO)
p-menthan-3-ol  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenacetin  (ISO)
phenobarbital  (EXP,ISO)
phenylhydrazine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rottlerin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
undecane  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:8663431   PMID:9218461   PMID:9485382   PMID:9572851   PMID:9712717   PMID:10753839   PMID:10770950   PMID:10869562   PMID:10930526   PMID:11390389   PMID:11809687   PMID:12009895  
PMID:12010804   PMID:12023963   PMID:12031648   PMID:12477932   PMID:12564925   PMID:12586838   PMID:12605885   PMID:12871937   PMID:14654079   PMID:14766753   PMID:15035622   PMID:15308560  
PMID:15308695   PMID:15489334   PMID:15611084   PMID:16091359   PMID:16189514   PMID:16260419   PMID:16713569   PMID:17567603   PMID:17712045   PMID:18254948   PMID:18579528   PMID:18629440  
PMID:18654987   PMID:19056867   PMID:19333378   PMID:19540310   PMID:19946888   PMID:20516018   PMID:20870722   PMID:20926691   PMID:20927484   PMID:21653829   PMID:21806988   PMID:21832049  
PMID:21873635   PMID:21900206   PMID:21911467   PMID:21958383   PMID:21988832   PMID:22052202   PMID:22190034   PMID:22264514   PMID:22342889   PMID:22526829   PMID:22789739   PMID:22893466  
PMID:23088713   PMID:23376485   PMID:23426682   PMID:23501106   PMID:23533145   PMID:23590222   PMID:23621864   PMID:23659204   PMID:24099740   PMID:24343571   PMID:24356419   PMID:24648509  
PMID:24722188   PMID:24878522   PMID:25229146   PMID:25362260   PMID:25365352   PMID:25416956   PMID:25468996   PMID:25910212   PMID:26186194   PMID:26204401   PMID:26642712   PMID:26679604  
PMID:26745724   PMID:26871637   PMID:27107014   PMID:27206388   PMID:27248824   PMID:28079882   PMID:28372945   PMID:28492556   PMID:28514442   PMID:28604741   PMID:28986522   PMID:29180619  
PMID:29293671   PMID:29748552   PMID:30004207   PMID:30194290   PMID:30442762   PMID:31434743   PMID:31515488   PMID:31616248   PMID:31957029   PMID:32017928   PMID:32110987   PMID:32292520  
PMID:32814053   PMID:32978449   PMID:33087821   PMID:33766124   PMID:33961781   PMID:34651249   PMID:34773335   PMID:34975328   PMID:35138119   PMID:35255492   PMID:35439477   PMID:35696571  
PMID:36180527   PMID:36260146   PMID:37438530   PMID:38496616   PMID:38636689   PMID:38866522  


Genomics

Comparative Map Data
PLSCR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383146,515,180 - 146,544,607 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3146,515,180 - 146,544,856 (-)EnsemblGRCh38hg38GRCh38
GRCh373146,232,967 - 146,262,394 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363147,715,658 - 147,745,186 (-)NCBINCBI36Build 36hg18NCBI36
Build 343147,715,665 - 147,745,194NCBI
Celera3144,649,990 - 144,679,651 (-)NCBICelera
Cytogenetic Map3q24NCBI
HuRef3143,609,792 - 143,639,453 (-)NCBIHuRef
CHM1_13146,196,031 - 146,225,691 (-)NCBICHM1_1
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBIT2T-CHM13v2.0
Plscr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39992,132,265 - 92,154,034 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl992,131,803 - 92,154,331 (+)EnsemblGRCm39 Ensembl
GRCm38992,250,194 - 92,272,561 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl992,249,750 - 92,272,278 (+)EnsemblGRCm38mm10GRCm38
MGSCv37992,145,032 - 92,167,399 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36992,063,114 - 92,075,746 (+)NCBIMGSCv36mm8
Celera991,837,716 - 91,860,050 (+)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map948.35NCBI
Plscr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88101,662,512 - 101,684,474 (+)NCBIGRCr8
mRatBN7.2892,784,279 - 92,804,698 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl892,784,356 - 92,804,692 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx898,462,546 - 98,482,894 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0896,661,795 - 96,682,143 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0894,494,749 - 94,515,160 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0899,625,523 - 99,645,882 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl899,625,545 - 99,725,217 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0899,108,895 - 99,129,251 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4897,206,388 - 97,226,725 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1897,225,842 - 97,246,179 (+)NCBI
Celera892,307,776 - 92,328,258 (+)NCBICelera
Cytogenetic Map8q31NCBI
Plscr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547410,953,381 - 10,989,100 (+)NCBIChiLan1.0ChiLan1.0
PLSCR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22144,397,437 - 144,426,848 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13144,402,168 - 144,431,880 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03143,528,967 - 143,558,468 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13151,111,622 - 151,141,264 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3151,112,483 - 151,132,964 (-)Ensemblpanpan1.1panPan2
PLSCR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12341,639,938 - 41,668,972 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2341,599,843 - 41,669,112 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2341,505,247 - 41,534,148 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02342,258,129 - 42,287,174 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2342,258,522 - 42,287,370 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12341,846,168 - 41,875,156 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02341,921,170 - 41,950,076 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02342,164,670 - 42,193,494 (-)NCBIUU_Cfam_GSD_1.0
Plscr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560280,943,177 - 80,974,329 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365198,759,702 - 8,790,823 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLSCR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1386,834,587 - 86,869,297 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11386,836,288 - 86,869,569 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PLSCR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11544,160,017 - 44,189,056 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1544,160,200 - 44,188,195 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604117,044,147 - 17,072,858 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PLSCR1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1 copy number loss See cases [RCV000051575] Chr3:141751960..148246189 [GRCh38]
Chr3:141470802..147963976 [GRCh37]
Chr3:142953492..149446666 [NCBI36]
Chr3:3q23-24		 pathogenic
GRCh38/hg38 3q24(chr3:144319831-146552546)x1 copy number loss See cases [RCV000051576] Chr3:144319831..146552546 [GRCh38]
Chr3:144038673..146270333 [GRCh37]
Chr3:145521363..147753023 [NCBI36]
Chr3:3q24		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1		 pathogenic|likely benign
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
GRCh37/hg19 3q24(chr3:146213629-146254335)x3 copy number gain See cases [RCV000445818] Chr3:146213629..146254335 [GRCh37]
Chr3:3q24		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q24(chr3:146258699-146312941)x3 copy number gain not provided [RCV000742860] Chr3:146258699..146312941 [GRCh37]
Chr3:3q24		 benign
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24		 pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
GRCh37/hg19 3q24(chr3:142909055-147190850)x1 copy number loss not provided [RCV001005475] Chr3:142909055..147190850 [GRCh37]
Chr3:3q24		 uncertain significance
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1		 likely pathogenic
NC_000003.11:g.(?_145788504)_(147131338_?)del deletion not provided [RCV001351557] Chr3:145788504..147131338 [GRCh37]
Chr3:3q24		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1		 pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32		 pathogenic
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33		 pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_021105.3(PLSCR1):c.80C>T (p.Pro27Leu) single nucleotide variant not specified [RCV004224327] Chr3:146533484 [GRCh38]
Chr3:146251271 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.847T>G (p.Leu283Val) single nucleotide variant not specified [RCV004154370] Chr3:146517059 [GRCh38]
Chr3:146234846 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.879G>A (p.Met293Ile) single nucleotide variant not specified [RCV004230906] Chr3:146517027 [GRCh38]
Chr3:146234814 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.415G>A (p.Val139Ile) single nucleotide variant not specified [RCV004153791] Chr3:146521994 [GRCh38]
Chr3:146239781 [GRCh37]
Chr3:3q24		 likely benign
NM_021105.3(PLSCR1):c.52C>A (p.Pro18Thr) single nucleotide variant not specified [RCV004226091] Chr3:146533512 [GRCh38]
Chr3:146251299 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.505G>T (p.Gly169Cys) single nucleotide variant not specified [RCV004176427] Chr3:146521904 [GRCh38]
Chr3:146239691 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.633C>A (p.His211Gln) single nucleotide variant not specified [RCV004187274] Chr3:146521649 [GRCh38]
Chr3:146239436 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.146C>G (p.Pro49Arg) single nucleotide variant not specified [RCV004076622] Chr3:146528780 [GRCh38]
Chr3:146246567 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.719G>T (p.Cys240Phe) single nucleotide variant not specified [RCV004258362] Chr3:146521563 [GRCh38]
Chr3:146239350 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.926G>A (p.Gly309Asp) single nucleotide variant not specified [RCV004280019] Chr3:146516076 [GRCh38]
Chr3:146233863 [GRCh37]
Chr3:3q24		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
GRCh37/hg19 3q24(chr3:144717495-148147770)x1 copy number loss not specified [RCV003986432] Chr3:144717495..148147770 [GRCh37]
Chr3:3q24		 pathogenic
NM_021105.3(PLSCR1):c.154G>A (p.Gly52Ser) single nucleotide variant not specified [RCV004506797] Chr3:146528772 [GRCh38]
Chr3:146246559 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.175G>A (p.Ala59Thr) single nucleotide variant not specified [RCV004506798] Chr3:146528751 [GRCh38]
Chr3:146246538 [GRCh37]
Chr3:3q24		 uncertain significance
NM_021105.3(PLSCR1):c.251C>T (p.Pro84Leu) single nucleotide variant not specified [RCV004506799] Chr3:146528675 [GRCh38]
Chr3:146246462 [GRCh37]
Chr3:3q24		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3458
Count of miRNA genes:833
Interacting mature miRNAs:934
Transcripts:ENST00000342435, ENST00000448205, ENST00000448787, ENST00000462666, ENST00000463777, ENST00000468985, ENST00000469266, ENST00000470496, ENST00000472349, ENST00000477974, ENST00000478267, ENST00000483300, ENST00000484560, ENST00000486631, ENST00000487389, ENST00000488253, ENST00000489775, ENST00000490745, ENST00000493432, ENST00000494568
Prediction methods:Microtar, Miranda, 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
407186900GWAS835876_HCOVID-19 QTL GWAS835876 (human)2e-08COVID-193146517122146517123Human
407167685GWAS816661_Hneutrophil measurement QTL GWAS816661 (human)9e-11neutrophil measurement3146520389146520390Human
407366772GWAS1015748_Hblood protein measurement QTL GWAS1015748 (human)6e-32blood protein measurementblood protein measurement (CMO:0000028)3146518374146518375Human
407057910GWAS706886_HCOVID-19 QTL GWAS706886 (human)5e-08COVID-193146522652146522653Human
407384288GWAS1033264_Hblood protein measurement QTL GWAS1033264 (human)5e-18blood protein measurementblood protein measurement (CMO:0000028)3146518374146518375Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407186940GWAS835916_HCOVID-19 QTL GWAS835916 (human)5e-09COVID-193146517122146517123Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407055100GWAS704076_HCOVID-19 QTL GWAS704076 (human)2e-10COVID-193146520241146520242Human

Markers in Region
PMC229255P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373146,262,254 - 146,262,495UniSTSGRCh37
Build 363147,744,944 - 147,745,185RGDNCBI36
Celera3144,679,277 - 144,679,518RGD
Cytogenetic Map3q23UniSTS
HuRef3143,639,079 - 143,639,320UniSTS
STS-N33501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373146,245,853 - 146,245,975UniSTSGRCh37
Build 363147,728,543 - 147,728,665RGDNCBI36
Celera3144,662,876 - 144,662,998RGD
Cytogenetic Map3q23UniSTS
HuRef3143,622,676 - 143,622,798UniSTS
TNG Radiation Hybrid Map382383.0UniSTS
GeneMap99-GB4 RH Map3535.13UniSTS
NCBI RH Map31237.7UniSTS
SGC32718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373146,233,791 - 146,233,940UniSTSGRCh37
Build 363147,716,481 - 147,716,630RGDNCBI36
Celera3144,650,814 - 144,650,963RGD
Cytogenetic Map3q23UniSTS
HuRef3143,610,616 - 143,610,765UniSTS
GeneMap99-GB4 RH Map3537.09UniSTS
Whitehead-RH Map3656.9UniSTS
NCBI RH Map31242.1UniSTS
SHGC-77431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373146,233,726 - 146,233,860UniSTSGRCh37
Build 363147,716,416 - 147,716,550RGDNCBI36
Celera3144,650,749 - 144,650,883RGD
Cytogenetic Map3q23UniSTS
HuRef3143,610,551 - 143,610,685UniSTS
TNG Radiation Hybrid Map382380.0UniSTS
GeneMap99-GB4 RH Map3535.13UniSTS
NCBI RH Map31237.7UniSTS
SHGC-77437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373146,233,096 - 146,233,227UniSTSGRCh37
Build 363147,715,786 - 147,715,917RGDNCBI36
Celera3144,650,119 - 144,650,250RGD
Cytogenetic Map3q23UniSTS
HuRef3143,609,921 - 143,610,052UniSTS
TNG Radiation Hybrid Map382380.0UniSTS
GeneMap99-GB4 RH Map3537.09UniSTS
NCBI RH Map31242.1UniSTS
PLSCR1__5724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373146,232,888 - 146,233,626UniSTSGRCh37
Build 363147,715,578 - 147,716,316RGDNCBI36
Celera3144,649,911 - 144,650,649RGD
HuRef3143,609,713 - 143,610,451UniSTS


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 2251 4973 1726 2351 6 624 1945 465 2269 7302 6468 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_175994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_175995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_175996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_175997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_175998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_175999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF098642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF153715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF224492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342435   ⟹   ENSP00000345494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,515,180 - 146,544,607 (-)Ensembl
Ensembl Acc Id: ENST00000448787   ⟹   ENSP00000411675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,515,955 - 146,544,620 (-)Ensembl
Ensembl Acc Id: ENST00000462666   ⟹   ENSP00000418103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,517,089 - 146,544,570 (-)Ensembl
Ensembl Acc Id: ENST00000463777   ⟹   ENSP00000419228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,515,802 - 146,544,555 (-)Ensembl
Ensembl Acc Id: ENST00000468985   ⟹   ENSP00000417469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,515,952 - 146,544,555 (-)Ensembl
Ensembl Acc Id: ENST00000469266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,527,943 - 146,544,727 (-)Ensembl
Ensembl Acc Id: ENST00000470496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,517,012 - 146,521,712 (-)Ensembl
Ensembl Acc Id: ENST00000472349   ⟹   ENSP00000420523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,517,158 - 146,544,856 (-)Ensembl
Ensembl Acc Id: ENST00000477974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,540,853 - 146,544,553 (-)Ensembl
Ensembl Acc Id: ENST00000478267   ⟹   ENSP00000417588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,516,903 - 146,544,538 (-)Ensembl
Ensembl Acc Id: ENST00000483300   ⟹   ENSP00000420006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,516,088 - 146,528,750 (-)Ensembl
Ensembl Acc Id: ENST00000484560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,516,440 - 146,517,394 (-)Ensembl
Ensembl Acc Id: ENST00000486631   ⟹   ENSP00000418550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,517,149 - 146,544,641 (-)Ensembl
Ensembl Acc Id: ENST00000487389   ⟹   ENSP00000417792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,515,817 - 146,544,737 (-)Ensembl
Ensembl Acc Id: ENST00000488253   ⟹   ENSP00000418654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,516,059 - 146,544,530 (-)Ensembl
Ensembl Acc Id: ENST00000489775   ⟹   ENSP00000417733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,516,070 - 146,544,547 (-)Ensembl
Ensembl Acc Id: ENST00000490745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,525,529 - 146,536,819 (-)Ensembl
Ensembl Acc Id: ENST00000493432   ⟹   ENSP00000419680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,515,181 - 146,544,521 (-)Ensembl
Ensembl Acc Id: ENST00000494568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3146,521,717 - 146,544,578 (-)Ensembl
RefSeq Acc Id: NM_001363872   ⟹   NP_001350801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,555 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,720 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363874   ⟹   NP_001350803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,595 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,760 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001406033   ⟹   NP_001392962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406034   ⟹   NP_001392963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406035   ⟹   NP_001392964
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406036   ⟹   NP_001392965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406037   ⟹   NP_001392966
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406038   ⟹   NP_001392967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406039   ⟹   NP_001392968
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406040   ⟹   NP_001392969
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406041   ⟹   NP_001392970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_001406042   ⟹   NP_001392971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NM_021105   ⟹   NP_066928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
GRCh373146,232,967 - 146,262,628 (-)ENTREZGENE
GRCh373146,232,967 - 146,262,628 (-)NCBI
Build 363147,715,658 - 147,745,186 (-)NCBI Archive
HuRef3143,609,792 - 143,639,453 (-)ENTREZGENE
CHM1_13146,196,031 - 146,225,691 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
Sequence:
RefSeq Acc Id: NR_175994
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_175995
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_175996
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_175997
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_175998
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_175999
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_176000
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_176001
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: NR_176002
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
RefSeq Acc Id: XM_047448329   ⟹   XP_047304285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,515,180 - 146,544,607 (-)NCBI
RefSeq Acc Id: XM_054346884   ⟹   XP_054202859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03149,270,345 - 149,299,772 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001350801 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350803 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392962 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392963 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392964 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392966 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392968 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392969 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392970 (Get FASTA)   NCBI Sequence Viewer  
  NP_001392971 (Get FASTA)   NCBI Sequence Viewer  
  NP_066928 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202859 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC99413 (Get FASTA)   NCBI Sequence Viewer  
  AAF80593 (Get FASTA)   NCBI Sequence Viewer  
  AAH17901 (Get FASTA)   NCBI Sequence Viewer  
  AAH21100 (Get FASTA)   NCBI Sequence Viewer  
  AAH32718 (Get FASTA)   NCBI Sequence Viewer  
  AAH70251 (Get FASTA)   NCBI Sequence Viewer  
  BAA32568 (Get FASTA)   NCBI Sequence Viewer  
  BAG36175 (Get FASTA)   NCBI Sequence Viewer  
  BAG61960 (Get FASTA)   NCBI Sequence Viewer  
  CCF77041 (Get FASTA)   NCBI Sequence Viewer  
  EAW78923 (Get FASTA)   NCBI Sequence Viewer  
  EAW78924 (Get FASTA)   NCBI Sequence Viewer  
  EAW78925 (Get FASTA)   NCBI Sequence Viewer  
  EAW78926 (Get FASTA)   NCBI Sequence Viewer  
  EAW78927 (Get FASTA)   NCBI Sequence Viewer  
  EAW78928 (Get FASTA)   NCBI Sequence Viewer  
  EAW78929 (Get FASTA)   NCBI Sequence Viewer  
  EAW78930 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345494
  ENSP00000345494.4
  ENSP00000411675
  ENSP00000411675.2
  ENSP00000417469.1
  ENSP00000417588.1
  ENSP00000417733.1
  ENSP00000417792
  ENSP00000417792.1
  ENSP00000418103
  ENSP00000418103.1
  ENSP00000418550.1
  ENSP00000418654.1
  ENSP00000419228.1
  ENSP00000419680.1
  ENSP00000420006.1
  ENSP00000420523.1
GenBank Protein O15162 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_066928   ⟸   NM_021105
- Peptide Label: isoform 1
- UniProtKB: B2R8H8 (UniProtKB/Swiss-Prot),   B4DTE8 (UniProtKB/Swiss-Prot),   O15162 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350803   ⟸   NM_001363874
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001350801   ⟸   NM_001363872
- Peptide Label: isoform 2
- UniProtKB: C9J7K9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000418103   ⟸   ENST00000462666
Ensembl Acc Id: ENSP00000419228   ⟸   ENST00000463777
Ensembl Acc Id: ENSP00000417588   ⟸   ENST00000478267
Ensembl Acc Id: ENSP00000419680   ⟸   ENST00000493432
Ensembl Acc Id: ENSP00000417469   ⟸   ENST00000468985
Ensembl Acc Id: ENSP00000420006   ⟸   ENST00000483300
Ensembl Acc Id: ENSP00000420523   ⟸   ENST00000472349
Ensembl Acc Id: ENSP00000418550   ⟸   ENST00000486631
Ensembl Acc Id: ENSP00000417792   ⟸   ENST00000487389
Ensembl Acc Id: ENSP00000411675   ⟸   ENST00000448787
Ensembl Acc Id: ENSP00000345494   ⟸   ENST00000342435
Ensembl Acc Id: ENSP00000418654   ⟸   ENST00000488253
Ensembl Acc Id: ENSP00000417733   ⟸   ENST00000489775
RefSeq Acc Id: XP_047304285   ⟸   XM_047448329
- Peptide Label: isoform X1
- UniProtKB: O15162 (UniProtKB/Swiss-Prot),   B2R8H8 (UniProtKB/Swiss-Prot),   B4DTE8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001392966   ⟸   NM_001406037
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001392971   ⟸   NM_001406042
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001392970   ⟸   NM_001406041
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001392965   ⟸   NM_001406036
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001392967   ⟸   NM_001406038
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001392963   ⟸   NM_001406034
- Peptide Label: isoform 1
- UniProtKB: O15162 (UniProtKB/Swiss-Prot),   B2R8H8 (UniProtKB/Swiss-Prot),   B4DTE8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001392968   ⟸   NM_001406039
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001392962   ⟸   NM_001406033
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001392969   ⟸   NM_001406040
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001392964   ⟸   NM_001406035
- Peptide Label: isoform 1
- UniProtKB: O15162 (UniProtKB/Swiss-Prot),   B2R8H8 (UniProtKB/Swiss-Prot),   B4DTE8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054202859   ⟸   XM_054346884
- Peptide Label: isoform X1
- UniProtKB: O15162 (UniProtKB/Swiss-Prot),   B2R8H8 (UniProtKB/Swiss-Prot),   B4DTE8 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15162-F1-model_v2 AlphaFold O15162 1-318 view protein structure

Promoters
RGD ID:6865922
Promoter ID:EPDNEW_H6125
Type:initiation region
Name:PLSCR1_1
Description:phospholipid scramblase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6126  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,544,607 - 146,544,667EPDNEW
RGD ID:6865924
Promoter ID:EPDNEW_H6126
Type:initiation region
Name:PLSCR1_2
Description:phospholipid scramblase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6125  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,544,726 - 146,544,786EPDNEW
RGD ID:6812365
Promoter ID:HG_ACW:56469
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PLSCR1.VAAPR07-UNSPLICED,   PLSCR1.VBAPR07,   PLSCR1.VCAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 363147,718,566 - 147,719,066 (-)MPROMDB
RGD ID:6801449
Promoter ID:HG_KWN:46407
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_021105,   UC003EVY.2,   UC003EVZ.2,   UC003EWA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 363147,744,796 - 147,745,296 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9092 AgrOrtholog
COSMIC PLSCR1 COSMIC
Ensembl Genes ENSG00000188313 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342435 ENTREZGENE
  ENST00000342435.9 UniProtKB/Swiss-Prot
  ENST00000448787 ENTREZGENE
  ENST00000448787.6 UniProtKB/Swiss-Prot
  ENST00000462666 ENTREZGENE
  ENST00000462666.5 UniProtKB/TrEMBL
  ENST00000463777.5 UniProtKB/TrEMBL
  ENST00000468985.5 UniProtKB/TrEMBL
  ENST00000472349.1 UniProtKB/TrEMBL
  ENST00000478267.5 UniProtKB/TrEMBL
  ENST00000483300.5 UniProtKB/TrEMBL
  ENST00000486631.5 UniProtKB/TrEMBL
  ENST00000487389 ENTREZGENE
  ENST00000487389.5 UniProtKB/TrEMBL
  ENST00000488253.5 UniProtKB/TrEMBL
  ENST00000489775.5 UniProtKB/TrEMBL
  ENST00000493432 ENTREZGENE
  ENST00000493432.5 UniProtKB/TrEMBL
GTEx ENSG00000188313 GTEx
HGNC ID HGNC:9092 ENTREZGENE
Human Proteome Map PLSCR1 Human Proteome Map
InterPro Scramblase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5359 UniProtKB/Swiss-Prot
NCBI Gene 5359 ENTREZGENE
OMIM 604170 OMIM
PANTHER PHOSPHOLIPID SCRAMBLASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23248 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Scramblase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33419 PharmGKB
UniProt B2R8H8 ENTREZGENE
  B4DTE8 ENTREZGENE
  C9J0H3_HUMAN UniProtKB/TrEMBL
  C9J7K9 ENTREZGENE, UniProtKB/TrEMBL
  C9J9P4_HUMAN UniProtKB/TrEMBL
  C9JE06_HUMAN UniProtKB/TrEMBL
  F2Z3F2_HUMAN UniProtKB/TrEMBL
  H7C5I5_HUMAN UniProtKB/TrEMBL
  O15162 ENTREZGENE, UniProtKB/Swiss-Prot
  Q8WVK1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R8H8 UniProtKB/Swiss-Prot
  B4DTE8 UniProtKB/Swiss-Prot