SCAP (SREBF chaperone) - Rat Genome Database

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Gene: SCAP (SREBF chaperone) Homo sapiens
Analyze
Symbol: SCAP
Name: SREBF chaperone
RGD ID: 1604827
HGNC Page HGNC
Description: Predicted to enable sterol binding activity. Involved in SREBP signaling pathway and positive regulation of cholesterol biosynthetic process. Located in Golgi membrane and endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: KIAA0199; SREBP cleavage-activating protein; sterol regulatory element binding protein cleavage-activating protein; sterol regulatory element-binding protein cleavage-activating protein
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 Ensembl347,413,681 - 47,477,126 (-)EnsemblGRCh38hg38GRCh38
GRCh38347,413,681 - 47,477,126 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37347,455,171 - 47,517,431 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36347,430,188 - 47,492,449 (-)NCBINCBI36hg18NCBI36
Celera347,393,823 - 47,458,772 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef347,498,135 - 47,563,088 (-)NCBIHuRef
CHM1_1347,405,412 - 47,467,423 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8724849   PMID:8898195   PMID:9242699   PMID:9642295   PMID:10570913   PMID:10570919   PMID:10896675   PMID:11726962   PMID:11726974   PMID:12168954   PMID:12202038   PMID:12242332  
PMID:12477932   PMID:12482938   PMID:12842885   PMID:14702039   PMID:15146197   PMID:15489334   PMID:15782218   PMID:16303743   PMID:16344560   PMID:16466730   PMID:16549805   PMID:16751776  
PMID:17043353   PMID:17383658   PMID:17428920   PMID:17570245   PMID:17963605   PMID:18195716   PMID:18660489   PMID:18835813   PMID:19116028   PMID:19706601   PMID:19740467   PMID:19878569  
PMID:19948975   PMID:20031551   PMID:20111910   PMID:20186155   PMID:22658674   PMID:22690709   PMID:23440422   PMID:23454642   PMID:23564452   PMID:24146768   PMID:24217618   PMID:24371177  
PMID:24478315   PMID:25028659   PMID:26186194   PMID:26344197   PMID:26555173   PMID:26982812   PMID:28228593   PMID:28377508   PMID:28514442   PMID:28542467   PMID:28700943   PMID:29097707  
PMID:30366764   PMID:30563842   PMID:30638930   PMID:31003232   PMID:31056421   PMID:31073040   PMID:31091453   PMID:32054686   PMID:32111832   PMID:32322062   PMID:32694731   PMID:33156328  
PMID:33446483   PMID:33845483  


Genomics

Comparative Map Data
SCAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl347,413,681 - 47,477,126 (-)EnsemblGRCh38hg38GRCh38
GRCh38347,413,681 - 47,477,126 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37347,455,171 - 47,517,431 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36347,430,188 - 47,492,449 (-)NCBINCBI36hg18NCBI36
Celera347,393,823 - 47,458,772 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef347,498,135 - 47,563,088 (-)NCBIHuRef
CHM1_1347,405,412 - 47,467,423 (-)NCBICHM1_1
Scap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399110,162,356 - 110,214,017 (+)NCBIGRCm39mm39
GRCm39 Ensembl9110,162,356 - 110,214,018 (+)Ensembl
GRCm389110,333,288 - 110,384,949 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9110,333,288 - 110,384,950 (+)EnsemblGRCm38mm10GRCm38
MGSCv379110,235,797 - 110,287,450 (+)NCBIGRCm37mm9NCBIm37
MGSCv369110,178,523 - 110,230,113 (+)NCBImm8
Celera9110,062,305 - 110,113,905 (+)NCBICelera
Cytogenetic Map9F2NCBI
cM Map959.91NCBI
Scap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28110,306,031 - 110,360,677 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl8110,306,031 - 110,360,666 (+)Ensembl
Rnor_6.08118,551,869 - 118,628,650 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8118,570,503 - 118,628,651 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08117,895,671 - 117,972,292 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48114,706,479 - 114,761,342 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.18114,725,918 - 114,780,799 (+)NCBI
Celera8109,591,567 - 109,646,089 (+)NCBICelera
Cytogenetic Map8q32NCBI
Scap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542024,813,534 - 24,869,480 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542024,813,683 - 24,869,602 (+)NCBIChiLan1.0ChiLan1.0
SCAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1348,414,012 - 48,446,721 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl348,414,012 - 48,479,845 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0347,314,535 - 47,379,455 (-)NCBIMhudiblu_PPA_v0panPan3
SCAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12041,418,507 - 41,485,681 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2041,418,536 - 41,487,024 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2041,335,033 - 41,402,084 (+)NCBI
ROS_Cfam_1.02041,901,526 - 41,968,598 (+)NCBI
UMICH_Zoey_3.12041,143,535 - 41,210,564 (+)NCBI
UNSW_CanFamBas_1.02041,544,714 - 41,611,716 (+)NCBI
UU_Cfam_GSD_1.02041,825,295 - 41,892,343 (+)NCBI
LOC101970674
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118201,575,434 - 201,631,109 (-)NCBI
SpeTri2.0NW_0049365961,124,573 - 1,180,219 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1330,253,268 - 30,320,526 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11330,253,262 - 30,320,625 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21333,483,930 - 33,551,346 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103227563
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1228,821,809 - 8,887,538 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl228,818,980 - 8,850,202 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666041158,240,615 - 158,318,574 (+)NCBIVero_WHO_p1.0
Scap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473073,926,978 - 73,975,337 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH47493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,455,228 - 47,455,361UniSTSGRCh37
Build 36347,430,232 - 47,430,365RGDNCBI36
Celera347,393,867 - 47,394,000RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef347,498,179 - 47,498,312UniSTS
GeneMap99-GB4 RH Map3157.55UniSTS
RH91891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,454,746 - 47,454,895UniSTSGRCh37
Build 36347,429,750 - 47,429,899RGDNCBI36
Celera347,393,385 - 47,393,534RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef347,497,697 - 47,497,846UniSTS
GeneMap99-GB4 RH Map3157.55UniSTS
SCAP_9290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,455,030 - 47,455,564UniSTSGRCh37
Build 36347,430,034 - 47,430,568RGDNCBI36
Celera347,393,669 - 47,394,203RGD
HuRef347,497,981 - 47,498,515UniSTS
STS-D83782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,455,246 - 47,455,437UniSTSGRCh37
Build 36347,430,250 - 47,430,441RGDNCBI36
Celera347,393,885 - 47,394,076RGD
Cytogenetic Map3p21.31UniSTS
HuRef347,498,197 - 47,498,388UniSTS
GeneMap99-GB4 RH Map3156.66UniSTS
SHGC-76917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37347,455,245 - 47,455,384UniSTSGRCh37
Build 36347,430,249 - 47,430,388RGDNCBI36
Celera347,393,884 - 47,394,023RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef347,498,196 - 47,498,335UniSTS
TNG Radiation Hybrid Map329784.0UniSTS
GeneMap99-GB4 RH Map3156.77UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5647
Count of miRNA genes:1133
Interacting mature miRNAs:1436
Transcripts:ENST00000265565, ENST00000320017, ENST00000416208, ENST00000416847, ENST00000420588, ENST00000428413, ENST00000441517, ENST00000448217, ENST00000465628, ENST00000468965, ENST00000485967, ENST00000487942, ENST00000494938, ENST00000495603, ENST00000545718
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
Medium 2436 2691 1725 623 1806 464 4288 2001 3524 401 1460 1610 175 1 1204 2719 5 2
Low 3 300 1 1 145 1 69 196 210 18 3 69 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001320044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU152077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG179218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI160250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN313163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265565   ⟹   ENSP00000265565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,413,681 - 47,475,941 (-)Ensembl
RefSeq Acc Id: ENST00000320017   ⟹   ENSP00000324296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,413,713 - 47,475,937 (-)Ensembl
RefSeq Acc Id: ENST00000416208   ⟹   ENSP00000409183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,419,385 - 47,475,937 (-)Ensembl
RefSeq Acc Id: ENST00000416847   ⟹   ENSP00000408102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,428,513 - 47,475,597 (-)Ensembl
RefSeq Acc Id: ENST00000420588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,428,561 - 47,443,094 (-)Ensembl
RefSeq Acc Id: ENST00000428413   ⟹   ENSP00000401819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,413,694 - 47,475,955 (-)Ensembl
RefSeq Acc Id: ENST00000441517   ⟹   ENSP00000416847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,413,713 - 47,475,955 (-)Ensembl
RefSeq Acc Id: ENST00000448217   ⟹   ENSP00000415195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,434,996 - 47,477,126 (-)Ensembl
RefSeq Acc Id: ENST00000465628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,420,619 - 47,421,365 (-)Ensembl
RefSeq Acc Id: ENST00000468965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,420,654 - 47,422,793 (-)Ensembl
RefSeq Acc Id: ENST00000485967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,434,853 - 47,443,094 (-)Ensembl
RefSeq Acc Id: ENST00000487942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,427,639 - 47,429,026 (-)Ensembl
RefSeq Acc Id: ENST00000494938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,425,275 - 47,427,225 (-)Ensembl
RefSeq Acc Id: ENST00000495603   ⟹   ENSP00000423419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,428,526 - 47,443,302 (-)Ensembl
RefSeq Acc Id: ENST00000545718   ⟹   ENSP00000438956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,413,721 - 47,443,092 (-)Ensembl
RefSeq Acc Id: ENST00000648151   ⟹   ENSP00000497087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl347,413,736 - 47,472,830 (-)Ensembl
RefSeq Acc Id: NM_001320044   ⟹   NP_001306973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,681 - 47,475,941 (-)NCBI
CHM1_1347,405,403 - 47,467,427 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012235   ⟹   NP_036367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,681 - 47,475,941 (-)NCBI
GRCh37347,455,184 - 47,517,603 (-)NCBI
Build 36347,430,188 - 47,492,449 (-)NCBI Archive
HuRef347,498,135 - 47,563,088 (-)ENTREZGENE
CHM1_1347,405,403 - 47,467,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264967   ⟹   XP_005265024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,475,926 (-)NCBI
GRCh37347,455,184 - 47,517,603 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264968   ⟹   XP_005265025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,476,113 (-)NCBI
GRCh37347,455,184 - 47,517,603 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264971   ⟹   XP_005265028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,475,937 (-)NCBI
GRCh37347,455,184 - 47,517,603 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533501   ⟹   XP_011531803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,477,126 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533502   ⟹   XP_011531804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,425,570 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005918   ⟹   XP_016861407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,475,597 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005921   ⟹   XP_016861410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38347,413,710 - 47,475,937 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036367   ⟸   NM_012235
- Peptide Label: isoform 1
- UniProtKB: Q12770 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005265025   ⟸   XM_005264968
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005265028   ⟸   XM_005264971
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005265024   ⟸   XM_005264967
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011531803   ⟸   XM_011533501
- Peptide Label: isoform X1
- UniProtKB: Q12770 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531804   ⟸   XM_011533502
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001306973   ⟸   NM_001320044
- Peptide Label: isoform 2
- UniProtKB: B7Z6H0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861410   ⟸   XM_017005921
- Peptide Label: isoform X6
- UniProtKB: Q12770 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861407   ⟸   XM_017005918
- Peptide Label: isoform X1
- UniProtKB: Q12770 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000497087   ⟸   ENST00000648151
RefSeq Acc Id: ENSP00000324296   ⟸   ENST00000320017
RefSeq Acc Id: ENSP00000438956   ⟸   ENST00000545718
RefSeq Acc Id: ENSP00000401819   ⟸   ENST00000428413
RefSeq Acc Id: ENSP00000408102   ⟸   ENST00000416847
RefSeq Acc Id: ENSP00000409183   ⟸   ENST00000416208
RefSeq Acc Id: ENSP00000416847   ⟸   ENST00000441517
RefSeq Acc Id: ENSP00000423419   ⟸   ENST00000495603
RefSeq Acc Id: ENSP00000415195   ⟸   ENST00000448217
RefSeq Acc Id: ENSP00000265565   ⟸   ENST00000265565
Protein Domains
SSD   WD_REPEATS_REGION

Promoters
RGD ID:6801628
Promoter ID:HG_KWN:44830
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345149
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,437,476 - 47,438,772 (-)MPROMDB
RGD ID:6801627
Promoter ID:HG_KWN:44831
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000345148
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,438,871 - 47,439,522 (-)MPROMDB
RGD ID:6801626
Promoter ID:HG_KWN:44832
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000345147
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,443,866 - 47,444,366 (-)MPROMDB
RGD ID:6864260
Promoter ID:EPDNEW_H5295
Type:initiation region
Name:SCAP_1
Description:SREBF chaperone
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
GRCh38347,475,823 - 47,475,883EPDNEW
RGD ID:6801629
Promoter ID:HG_KWN:44835
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000339815,   ENST00000383739,   OTTHUMT00000246872,   OTTHUMT00000345140,   OTTHUMT00000345144,   OTTHUMT00000345145,   UC003CRG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36347,492,176 - 47,493,322 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012235.2(SCAP):c.123-3717G>A single nucleotide variant Lung cancer [RCV000093585] Chr3:47438854 [GRCh38]
Chr3:47480344 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_015466.3(PTPN23):c.3773C>T (p.Pro1258Leu) single nucleotide variant Malignant melanoma [RCV000060834]|Malignant melanoma of skin [RCV000149764] Chr3:47411571 [GRCh38]
Chr3:47453061 [GRCh37]
Chr3:47428065 [NCBI36]
Chr3:3p21.31
not provided
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 copy number gain See cases [RCV000133650] Chr3:45879883..50749922 [GRCh38]
Chr3:45921375..50787353 [GRCh37]
Chr3:45896379..50762357 [NCBI36]
Chr3:3p21.31-21.2
pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31
likely pathogenic
GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3 copy number gain See cases [RCV000598871] Chr3:47069054..47468261 [GRCh37]
Chr3:3p21.31
uncertain significance
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 3p21.31(chr3:47468261-47493338)x0 copy number loss not provided [RCV000742390] Chr3:47468261..47493338 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31(chr3:47468261-47494157)x0 copy number loss not provided [RCV000742391] Chr3:47468261..47494157 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31(chr3:47490712-47528193)x0 copy number loss not provided [RCV000742392] Chr3:47490712..47528193 [GRCh37]
Chr3:3p21.31
benign
NM_012235.4(SCAP):c.3765C>T (p.Asn1255=) single nucleotide variant not provided [RCV000973124] Chr3:47413929 [GRCh38]
Chr3:47455419 [GRCh37]
Chr3:3p21.31
benign
NM_012235.4(SCAP):c.1941-9C>T single nucleotide variant not provided [RCV000969010] Chr3:47418852 [GRCh38]
Chr3:47460342 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1
pathogenic
NM_012235.4(SCAP):c.3660C>G (p.Gly1220=) single nucleotide variant not provided [RCV000898227] Chr3:47414034 [GRCh38]
Chr3:47455524 [GRCh37]
Chr3:3p21.31
benign
GRCh37/hg19 3p21.31(chr3:47068320-47472020)x3 copy number gain not provided [RCV000846985] Chr3:47068320..47472020 [GRCh37]
Chr3:3p21.31
uncertain significance
NM_012235.4(SCAP):c.3534G>A (p.Leu1178=) single nucleotide variant not provided [RCV000972701] Chr3:47414240 [GRCh38]
Chr3:47455730 [GRCh37]
Chr3:3p21.31
benign
NM_012235.4(SCAP):c.3327G>T (p.Ser1109=) single nucleotide variant not provided [RCV000952508] Chr3:47414632 [GRCh38]
Chr3:47456122 [GRCh37]
Chr3:3p21.31
benign
NM_012235.4(SCAP):c.3576G>A (p.Lys1192=) single nucleotide variant not provided [RCV000958296] Chr3:47414198 [GRCh38]
Chr3:47455688 [GRCh37]
Chr3:3p21.31
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30634 AgrOrtholog
COSMIC SCAP COSMIC
Ensembl Genes ENSG00000114650 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000324296 UniProtKB/TrEMBL
  ENSP00000401819 UniProtKB/TrEMBL
  ENSP00000408102 UniProtKB/TrEMBL
  ENSP00000409183 UniProtKB/TrEMBL
  ENSP00000415195 UniProtKB/TrEMBL
  ENSP00000416847 UniProtKB/TrEMBL
  ENSP00000423419 UniProtKB/TrEMBL
  ENSP00000438956 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497087 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000320017 UniProtKB/TrEMBL
  ENST00000416208 UniProtKB/TrEMBL
  ENST00000416847 UniProtKB/TrEMBL
  ENST00000428413 UniProtKB/TrEMBL
  ENST00000441517 UniProtKB/TrEMBL
  ENST00000448217 UniProtKB/TrEMBL
  ENST00000495603 UniProtKB/TrEMBL
  ENST00000545718 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000648151 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114650 GTEx
HGNC ID HGNC:30634 ENTREZGENE
Human Proteome Map SCAP Human Proteome Map
InterPro SCAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22937 UniProtKB/Swiss-Prot
NCBI Gene 22937 ENTREZGENE
OMIM 601510 OMIM
PANTHER PTHR46378 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sterol-sensing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162402461 PharmGKB
PROSITE SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTG6_HUMAN UniProtKB/TrEMBL
  B7Z6H0 ENTREZGENE, UniProtKB/TrEMBL
  C9JFY0_HUMAN UniProtKB/TrEMBL
  C9JQ35_HUMAN UniProtKB/TrEMBL
  D6RA39_HUMAN UniProtKB/TrEMBL
  F8W921_HUMAN UniProtKB/TrEMBL
  F8W9W7_HUMAN UniProtKB/TrEMBL
  F8WDP3_HUMAN UniProtKB/TrEMBL
  F8WEH8_HUMAN UniProtKB/TrEMBL
  Q12770 ENTREZGENE
  Q6PIX8_HUMAN UniProtKB/TrEMBL
  SCAP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8N2E0 UniProtKB/Swiss-Prot
  Q8WUA1 UniProtKB/Swiss-Prot