NPC1L1 (NPC1 like intracellular cholesterol transporter 1) - Rat Genome Database

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Gene: NPC1L1 (NPC1 like intracellular cholesterol transporter 1) Homo sapiens
Analyze
Symbol: NPC1L1
Name: NPC1 like intracellular cholesterol transporter 1
RGD ID: 1345181
HGNC Page HGNC
Description: Enables myosin V binding activity and small GTPase binding activity. Involved in several processes, including cellular response to sterol depletion; cholesterol biosynthetic process; and intestinal cholesterol absorption. Is spanning component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: LDLCQ7; Niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick disease, type C1, gene)-like 1; NPC1 like 1; NPC1-like 1; NPC1-like intracellular cholesterol transporter 1; NPC11L1; SLC65A2
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 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,512,440 - 44,541,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10783261   PMID:12477932   PMID:12690205   PMID:14976318   PMID:15604518   PMID:15679830   PMID:15790807   PMID:15928087   PMID:16098225   PMID:16297596   PMID:16449388   PMID:16518588  
PMID:16829661   PMID:17005902   PMID:17102949   PMID:17140581   PMID:17571164   PMID:17662536   PMID:18031309   PMID:18080173   PMID:18373109   PMID:18403720   PMID:18413323   PMID:18522826  
PMID:18522832   PMID:18641187   PMID:18641716   PMID:18783541   PMID:18850127   PMID:19071091   PMID:19265861   PMID:19325169   PMID:19443194   PMID:19542231   PMID:19747803   PMID:19752398  
PMID:19823104   PMID:19913121   PMID:20144195   PMID:20222991   PMID:20379057   PMID:20460578   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20855565   PMID:20953676   PMID:21187433  
PMID:21189420   PMID:21525977   PMID:21602275   PMID:21683156   PMID:22095670   PMID:22579005   PMID:22646906   PMID:23139223   PMID:23415434   PMID:24097068   PMID:24554660   PMID:24639526  
PMID:24861377   PMID:24891511   PMID:24904062   PMID:24974575   PMID:25056759   PMID:25331956   PMID:25390462   PMID:25463095   PMID:25589339   PMID:25696002   PMID:25739390   PMID:25770315  
PMID:25841872   PMID:26253792   PMID:26492642   PMID:26761771   PMID:26800364   PMID:27075173   PMID:27650930   PMID:27697530   PMID:27701660   PMID:27769799   PMID:28259659   PMID:28315682  
PMID:29106532   PMID:29466845   PMID:29601818   PMID:29764733   PMID:29880681   PMID:29980051   PMID:30994973   PMID:31311377   PMID:31417158   PMID:31432115   PMID:31883528   PMID:32410728  
PMID:33188743   PMID:33760662   PMID:34198853  


Genomics

Comparative Map Data
NPC1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh38744,512,440 - 44,541,651 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBI
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
Npc1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39116,161,011 - 6,180,245 (-)NCBIGRCm39mm39
GRCm39 Ensembl116,161,013 - 6,180,143 (-)Ensembl
GRCm38116,211,011 - 6,230,245 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,211,013 - 6,230,143 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,111,014 - 6,130,248 (-)NCBIGRCm37mm9NCBIm37
MGSCv36116,111,461 - 6,130,126 (-)NCBImm8
Celera116,693,602 - 6,712,842 (-)NCBICelera
Cytogenetic Map11A1NCBI
Npc1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21481,071,448 - 81,091,113 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1481,071,451 - 81,091,113 (-)Ensembl
Rnor_6.01486,345,946 - 86,560,694 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,345,953 - 86,560,694 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01487,307,372 - 87,319,081 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01487,516,291 - 87,523,225 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1479,954,434 - 79,974,086 (-)NCBICelera
Cytogenetic Map14q21NCBI
Npc1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,528,423 - 7,547,720 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,528,452 - 7,547,714 (+)NCBIChiLan1.0ChiLan1.0
NPC1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1745,296,365 - 45,324,692 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl745,297,271 - 45,324,692 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0745,227,289 - 45,256,094 (-)NCBIMhudiblu_PPA_v0panPan3
NPC1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha162,311,494 - 2,327,591 (-)NCBI
ROS_Cfam_1.01614,518,743 - 14,550,434 (+)NCBI
UNSW_CanFamBas_1.01614,165,465 - 14,181,751 (+)NCBI
UU_Cfam_GSD_1.01614,146,247 - 14,162,328 (+)NCBI
Npc1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118100,222,063 - 100,240,594 (-)NCBI
SpeTri2.0NW_00493647819,434,557 - 19,452,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPC1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,726,894 - 50,757,649 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,726,854 - 50,757,676 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21855,630,239 - 55,657,272 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NPC1L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12114,129,413 - 14,163,916 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2114,130,767 - 14,163,907 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660628,377,157 - 8,405,655 (-)NCBIVero_WHO_p1.0
Npc1l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247407,590,041 - 7,609,574 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH46066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,277 - 44,552,407UniSTSGRCh37
Build 36744,518,802 - 44,518,932RGDNCBI36
Celera744,651,282 - 44,651,412RGD
Cytogenetic Map7p13UniSTS
HuRef744,436,386 - 44,436,516UniSTS
CRA_TCAGchr7v2744,591,801 - 44,591,931UniSTS
GeneMap99-GB4 RH Map7203.67UniSTS
D7S2697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,574,438 - 44,574,555UniSTSGRCh37
Build 36744,540,963 - 44,541,080RGDNCBI36
Celera744,673,423 - 44,673,540RGD
Cytogenetic Map7p13UniSTS
HuRef744,458,547 - 44,458,664UniSTS
CRA_TCAGchr7v2744,613,952 - 44,614,069UniSTS
TNG Radiation Hybrid Map721779.0UniSTS
NPC1L1_9593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,075 - 44,552,752UniSTSGRCh37
Build 36744,518,600 - 44,519,277RGDNCBI36
Celera744,651,080 - 44,651,757RGD
HuRef744,436,184 - 44,436,861UniSTS
CRA_TCAGchr7v2744,591,599 - 44,592,276UniSTS
SGC38249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,195 - 44,552,493UniSTSGRCh37
Build 36744,518,720 - 44,519,018RGDNCBI36
Celera744,651,200 - 44,651,498RGD
Cytogenetic Map7p13UniSTS
HuRef744,436,304 - 44,436,602UniSTS
CRA_TCAGchr7v2744,591,719 - 44,592,017UniSTS
GeneMap99-GB4 RH Map7204.27UniSTS
Whitehead-RH Map7149.4UniSTS
NCBI RH Map7651.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1390
Count of miRNA genes:647
Interacting mature miRNAs:729
Transcripts:ENST00000289547, ENST00000381160, ENST00000423141, ENST00000546276
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
High
Medium 52 6 367 367 1 368 4 4 4 5 17 20 7
Low 1675 1299 135 78 218 60 1943 763 753 166 982 317 21 771 1182
Below cutoff 696 1530 1147 168 1355 28 2323 1385 2837 187 412 1171 146 1 426 1596 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001101648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY437865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ481111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289547   ⟹   ENSP00000289547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,512,535 - 44,541,315 (-)Ensembl
RefSeq Acc Id: ENST00000381160   ⟹   ENSP00000370552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,512,535 - 44,541,330 (-)Ensembl
RefSeq Acc Id: ENST00000423141   ⟹   ENSP00000404670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,533,227 - 44,541,315 (-)Ensembl
RefSeq Acc Id: ENST00000546276   ⟹   ENSP00000438033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl744,512,538 - 44,541,315 (-)Ensembl
RefSeq Acc Id: NM_001101648   ⟹   NP_001095118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
GRCh37744,552,134 - 44,580,914 (-)ENTREZGENE
GRCh37744,552,134 - 44,580,914 (-)NCBI
Build 36744,518,659 - 44,547,439 (-)NCBI Archive
HuRef744,436,243 - 44,465,023 (-)ENTREZGENE
CHM1_1744,556,489 - 44,585,261 (-)NCBI
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001300967   ⟹   NP_001287896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,533,227 - 44,541,330 (-)NCBI
CHM1_1744,577,173 - 44,585,261 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013389   ⟹   NP_037521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
GRCh37744,552,134 - 44,580,914 (-)ENTREZGENE
Build 36744,518,659 - 44,547,439 (-)NCBI Archive
HuRef744,436,243 - 44,465,023 (-)ENTREZGENE
CHM1_1744,556,489 - 44,585,261 (-)NCBI
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515326   ⟹   XP_011513628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,440 - 44,541,364 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515328   ⟹   XP_011513630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,440 - 44,540,325 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956423
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,520,765 - 44,541,651 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001095118   ⟸   NM_001101648
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9UHC9 (UniProtKB/Swiss-Prot),   A0A0C4DFX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_037521   ⟸   NM_013389
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UHC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287896   ⟸   NM_001300967
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9UHC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513628   ⟸   XM_011515326
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513630   ⟸   XM_011515328
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000404670   ⟸   ENST00000423141
RefSeq Acc Id: ENSP00000438033   ⟸   ENST00000546276
RefSeq Acc Id: ENSP00000289547   ⟸   ENST00000289547
RefSeq Acc Id: ENSP00000370552   ⟸   ENST00000381160
Protein Domains
SSD

Promoters
RGD ID:7210515
Promoter ID:EPDNEW_H11004
Type:initiation region
Name:NPC1L1_1
Description:NPC1 like intracellular cholesterol transporter 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
GRCh38744,541,330 - 44,541,390EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013389.3(NPC1L1):c.163G>T (p.Val55Leu) single nucleotide variant Ezetimibe response [RCV000002738] Chr7:44540234 [GRCh38]
Chr7:44579833 [GRCh37]
Chr7:7p13
drug response
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) single nucleotide variant Ezetimibe response [RCV000002739]|not specified [RCV000455151] Chr7:44516100 [GRCh38]
Chr7:44555699 [GRCh37]
Chr7:7p13
likely benign|drug response
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_013389.2(NPC1L1):c.2682C>T (p.Phe894=) single nucleotide variant Malignant melanoma [RCV000067882] Chr7:44522198 [GRCh38]
Chr7:44561797 [GRCh37]
Chr7:44528322 [NCBI36]
Chr7:7p13
not provided
NM_013389.2(NPC1L1):c.733G>A (p.Glu245Lys) single nucleotide variant Malignant melanoma [RCV000067883] Chr7:44539664 [GRCh38]
Chr7:44579263 [GRCh37]
Chr7:44545788 [NCBI36]
Chr7:7p13
not provided
NM_013389.2(NPC1L1):c.3008C>T (p.Pro1003Leu) single nucleotide variant Malignant melanoma [RCV000061654] Chr7:44521064 [GRCh38]
Chr7:44560663 [GRCh37]
Chr7:44527188 [NCBI36]
Chr7:7p13
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p13(chr7:44287818-44581121)x3 copy number gain See cases [RCV000135847] Chr7:44287818..44581121 [GRCh38]
Chr7:44327417..44620720 [GRCh37]
Chr7:44293942..44587245 [NCBI36]
Chr7:7p13
benign
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1
pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3
pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13
pathogenic
GRCh38/hg38 7p13(chr7:44345798-45076469)x3 copy number gain See cases [RCV000140230] Chr7:44345798..45076469 [GRCh38]
Chr7:44385397..45116068 [GRCh37]
Chr7:44351922..45082593 [NCBI36]
Chr7:7p13
uncertain significance
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13
pathogenic
NM_013389.3(NPC1L1):c.529G>A (p.Val177Ile) single nucleotide variant not provided [RCV000513794] Chr7:44539868 [GRCh38]
Chr7:44579467 [GRCh37]
Chr7:7p13
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13(chr7:44298464-44663913)x3 copy number gain See cases [RCV000449189] Chr7:44298464..44663913 [GRCh37]
Chr7:7p13
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13
pathogenic
NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) single nucleotide variant not specified [RCV000454514] Chr7:44539581 [GRCh38]
Chr7:44579180 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
NM_001101648.2(NPC1L1):c.3792C>T (p.Tyr1264=) single nucleotide variant not specified [RCV000455032] Chr7:44515807 [GRCh38]
Chr7:44555406 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.3086T>A (p.Leu1029Gln) single nucleotide variant not specified [RCV000455638] Chr7:44520815 [GRCh38]
Chr7:44560414 [GRCh37]
Chr7:7p13
uncertain significance
NM_001101648.2(NPC1L1):c.3634-9A>C single nucleotide variant not specified [RCV000455683] Chr7:44515974 [GRCh38]
Chr7:44555573 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.3807T>C (p.Val1269=) single nucleotide variant not specified [RCV000455992] Chr7:44513639 [GRCh38]
Chr7:44553238 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_013389.3(NPC1L1):c.1216C>T (p.Arg406Ter) single nucleotide variant LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 [RCV000627038] Chr7:44539181 [GRCh38]
Chr7:44578780 [GRCh37]
Chr7:7p13
association
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101648.2(NPC1L1):c.3080+9G>A single nucleotide variant not provided [RCV000958924] Chr7:44520983 [GRCh38]
Chr7:44560582 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.1059G>C (p.Leu353=) single nucleotide variant not provided [RCV000968607] Chr7:44539338 [GRCh38]
Chr7:44578937 [GRCh37]
Chr7:7p13
likely benign
NM_001101648.2(NPC1L1):c.2463T>G (p.Pro821=) single nucleotide variant not provided [RCV000947007] Chr7:44532164 [GRCh38]
Chr7:44571763 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.817G>T (p.Asp273Tyr) single nucleotide variant not provided [RCV000949729] Chr7:44539580 [GRCh38]
Chr7:44579179 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.3200G>A (p.Arg1067Gln) single nucleotide variant not provided [RCV000967047] Chr7:44517294 [GRCh38]
Chr7:44556893 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.2673C>T (p.Asn891=) single nucleotide variant not provided [RCV000898008] Chr7:44522207 [GRCh38]
Chr7:44561806 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.2505T>C (p.Ala835=) single nucleotide variant not provided [RCV000973400] Chr7:44532122 [GRCh38]
Chr7:44571721 [GRCh37]
Chr7:7p13
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001101648.2(NPC1L1):c.3259G>C (p.Asp1087His) single nucleotide variant not provided [RCV000958923] Chr7:44517235 [GRCh38]
Chr7:44556834 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.2514C>G (p.Pro838=) single nucleotide variant not provided [RCV000916157] Chr7:44532113 [GRCh38]
Chr7:44571712 [GRCh37]
Chr7:7p13
likely benign
NM_001101648.2(NPC1L1):c.3312G>C (p.Gln1104His) single nucleotide variant not provided [RCV000922386] Chr7:44516910 [GRCh38]
Chr7:44556509 [GRCh37]
Chr7:7p13
likely benign
NM_001101648.2(NPC1L1):c.2920C>T (p.Pro974Ser) single nucleotide variant not provided [RCV000965749] Chr7:44521745 [GRCh38]
Chr7:44561344 [GRCh37]
Chr7:7p13
benign
NM_001101648.2(NPC1L1):c.570C>T (p.Gly190=) single nucleotide variant not provided [RCV001355296] Chr7:44539827 [GRCh38]
Chr7:44579426 [GRCh37]
Chr7:7p13
uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Non-syndromic syndactyly [RCV001352654] Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3
pathogenic
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7898 AgrOrtholog
COSMIC NPC1L1 COSMIC
Ensembl Genes ENSG00000015520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000289547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370552 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000404670 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000438033 UniProtKB/TrEMBL
Ensembl Transcript ENST00000289547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381160 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000423141 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546276 UniProtKB/TrEMBL
GTEx ENSG00000015520 GTEx
HGNC ID HGNC:7898 ENTREZGENE
Human Proteome Map NPC1L1 Human Proteome Map
InterPro NP_C_type UniProtKB/TrEMBL
  NPC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ptc/Disp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29881 UniProtKB/Swiss-Prot
NCBI Gene 29881 ENTREZGENE
OMIM 608010 OMIM
  617966 OMIM
Pfam NPC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Patched UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sterol-sensing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB NPC1L1 RGD, PharmGKB
PROSITE SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs 2A060601 UniProtKB/TrEMBL
UniProt A0A0C4DFX6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0C4DGG6_HUMAN UniProtKB/TrEMBL
  NPCL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A4D2J7 UniProtKB/Swiss-Prot
  B7ZLE6 UniProtKB/Swiss-Prot
  D3DVK9 UniProtKB/Swiss-Prot
  Q17RV5 UniProtKB/Swiss-Prot
  Q6R3Q4 UniProtKB/Swiss-Prot
  Q9UHC8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 NPC1L1  NPC1 like intracellular cholesterol transporter 1  NPC1L1  NPC1 like 1  Symbol and/or name change 5135510 APPROVED
2016-03-21 NPC1L1  NPC1 like 1  NPC1L1  NPC1-like 1  Symbol and/or name change 5135510 APPROVED
2012-11-20 NPC1L1  NPC1-like 1  NPC1L1  NPC1 (Niemann-Pick disease, type C1, gene)-like 1  Symbol and/or name change 5135510 APPROVED