AUP1 (AUP1 lipid droplet regulating VLDL assembly factor) - Rat Genome Database
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Gene: AUP1 (AUP1 lipid droplet regulating VLDL assembly factor) Homo sapiens
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Symbol: AUP1
Name: AUP1 lipid droplet regulating VLDL assembly factor
RGD ID: 1602731
HGNC Page HGNC
Description: Exhibits ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including ERAD pathway; lipid droplet formation; and lipophagy. Localizes to autophagosome; integral component of endoplasmic reticulum membrane; and lipid droplet.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ancient ubiquitous protein 1; AUP1, lipid droplet regulating VLDL assembly factor; lipid droplet-regulating VLDL assembly factor AUP1
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 Ensembl274,526,645 - 74,529,760 (-)EnsemblGRCh38hg38GRCh38
GRCh38274,526,652 - 74,529,706 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37274,753,779 - 74,756,833 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36274,607,283 - 74,610,482 (-)NCBINCBI36hg18NCBI36
Celera274,584,883 - 74,588,082 (-)NCBI
Cytogenetic Map2p13.1NCBI
HuRef274,490,036 - 74,493,235 (-)NCBIHuRef
CHM1_1274,683,171 - 74,686,420 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:8812468   PMID:11042152   PMID:12042322   PMID:12477932   PMID:12534237   PMID:12534238   PMID:14702039   PMID:15231748   PMID:15489334   PMID:17353931   PMID:17725712   PMID:18029348  
PMID:18570454   PMID:18711132   PMID:19946888   PMID:20435896   PMID:20562859   PMID:21127063   PMID:21857022   PMID:21873635   PMID:22119785   PMID:22268729   PMID:22810586   PMID:22990118  
PMID:23197321   PMID:23223569   PMID:23246001   PMID:23464991   PMID:23840749   PMID:24039768   PMID:25515538   PMID:25660456   PMID:25921289   PMID:26186194   PMID:26389662   PMID:26496610  
PMID:26618866   PMID:26638075   PMID:26972000   PMID:27025967   PMID:27432908   PMID:28183703   PMID:28298427   PMID:28380382   PMID:28514442   PMID:28675297   PMID:28692057   PMID:29180619  
PMID:29291351   PMID:29395067   PMID:29467282   PMID:29509190   PMID:29540532   PMID:29568061   PMID:29902443   PMID:29955894   PMID:30194290   PMID:30639242   PMID:30804502   PMID:30833792  
PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31177093   PMID:31527615   PMID:31586073   PMID:31617661   PMID:31699778   PMID:32296183   PMID:32694731   PMID:32877691  
PMID:33144569  


Genomics

Comparative Map Data
AUP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl274,526,645 - 74,529,760 (-)EnsemblGRCh38hg38GRCh38
GRCh38274,526,652 - 74,529,706 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37274,753,779 - 74,756,833 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36274,607,283 - 74,610,482 (-)NCBINCBI36hg18NCBI36
Celera274,584,883 - 74,588,082 (-)NCBI
Cytogenetic Map2p13.1NCBI
HuRef274,490,036 - 74,493,235 (-)NCBIHuRef
CHM1_1274,683,171 - 74,686,420 (-)NCBICHM1_1
Aup1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39683,031,483 - 83,034,663 (+)NCBIGRCm39mm39
GRCm39 Ensembl683,031,502 - 83,034,789 (+)Ensembl
GRCm38683,054,495 - 83,057,682 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl683,054,521 - 83,057,808 (+)EnsemblGRCm38mm10GRCm38
MGSCv37683,004,647 - 83,007,676 (+)NCBIGRCm37mm9NCBIm37
MGSCv36683,020,386 - 83,023,340 (+)NCBImm8
Celera685,037,242 - 85,040,271 (+)NCBICelera
Cytogenetic Map6C3NCBI
cM Map635.94NCBI
Aup1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24115,560,274 - 115,563,346 (+)NCBI
Rnor_6.0 Ensembl4113,887,115 - 113,890,101 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04113,887,030 - 113,890,103 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04178,572,215 - 178,575,203 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44117,265,650 - 117,268,638 (+)NCBIRGSC3.4rn4RGSC3.4
Celera4104,555,036 - 104,558,024 (+)NCBICelera
Cytogenetic Map4q34NCBI
Aup1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542411,259,432 - 11,262,269 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542411,259,288 - 11,262,413 (+)NCBIChiLan1.0ChiLan1.0
AUP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A76,099,483 - 76,102,774 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A76,099,634 - 76,102,464 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A74,593,260 - 74,596,372 (-)NCBIMhudiblu_PPA_v0panPan3
AUP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1748,613,725 - 48,616,728 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11748,613,648 - 48,617,091 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Aup1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936556738,946 - 742,049 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AUP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl368,519,969 - 68,523,076 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1368,520,048 - 68,523,076 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2371,690,861 - 71,850,888 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AUP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11432,748,737 - 32,751,924 (+)NCBI
ChlSab1.1 Ensembl1432,748,909 - 32,751,776 (+)Ensembl
Aup1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474928,983,753 - 28,986,785 (+)NCBI

Position Markers
D2S1537E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,753,845 - 74,753,934UniSTSGRCh37
Build 36274,607,353 - 74,607,442RGDNCBI36
Celera274,584,953 - 74,585,042RGD
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,490,106 - 74,490,195UniSTS
D2S1577E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,756,303 - 74,756,414UniSTSGRCh37
Build 36274,609,811 - 74,609,922RGDNCBI36
Celera274,587,411 - 74,587,522RGD
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,492,564 - 74,492,675UniSTS
WI-19737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,753,799 - 74,754,159UniSTSGRCh37
Build 36274,607,307 - 74,607,667RGDNCBI36
Celera274,584,907 - 74,585,267RGD
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p13UniSTS
HuRef274,490,060 - 74,490,420UniSTS
GeneMap99-GB4 RH Map2232.6UniSTS
Whitehead-RH Map2322.1UniSTS
MARC_5801-5802:991939731:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,757,784 - 74,758,207UniSTSGRCh37
Build 36274,611,292 - 74,611,715RGDNCBI36
Celera274,588,892 - 74,589,315RGD
HuRef274,494,045 - 74,494,468UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2006
Count of miRNA genes:736
Interacting mature miRNAs:878
Transcripts:ENST00000377526, ENST00000425118, ENST00000462297, ENST00000463900, ENST00000464887, ENST00000466894, ENST00000472800, ENST00000486234
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.


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 12
Medium 2432 2984 1723 622 1948 464 4355 2193 3708 418 1436 1608 171 1204 2788 4
Low 7 2 3 2 3 1 1 3 16 1 11 2 3 1 2
Below cutoff 2 9 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_126511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF165515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI206563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI580873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR999537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX164419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY078082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377526   ⟹   ENSP00000366748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,526,652 - 74,529,706 (-)Ensembl
RefSeq Acc Id: ENST00000425118   ⟹   ENSP00000403430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,526,645 - 74,529,760 (-)Ensembl
RefSeq Acc Id: ENST00000462297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,527,032 - 74,527,614 (-)Ensembl
RefSeq Acc Id: ENST00000463900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,526,652 - 74,529,697 (-)Ensembl
RefSeq Acc Id: ENST00000464887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,527,736 - 74,528,936 (-)Ensembl
RefSeq Acc Id: ENST00000466894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,526,689 - 74,529,685 (-)Ensembl
RefSeq Acc Id: ENST00000472800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,528,822 - 74,529,760 (-)Ensembl
RefSeq Acc Id: ENST00000486234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl274,526,746 - 74,528,085 (-)Ensembl
RefSeq Acc Id: NM_181575   ⟹   NP_853553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,526,652 - 74,529,706 (-)NCBI
GRCh37274,753,775 - 74,757,019 (-)NCBI
Build 36274,607,283 - 74,610,482 (-)NCBI Archive
Celera274,584,883 - 74,588,082 (-)RGD
HuRef274,490,036 - 74,493,235 (-)RGD
CHM1_1274,683,171 - 74,686,420 (-)NCBI
Sequence:
RefSeq Acc Id: NR_126510
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,526,652 - 74,529,706 (-)NCBI
CHM1_1274,683,171 - 74,686,420 (-)NCBI
Sequence:
RefSeq Acc Id: NR_126511
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,526,652 - 74,529,706 (-)NCBI
CHM1_1274,683,171 - 74,686,420 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_853553   ⟸   NM_181575
- UniProtKB: Q9Y679 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000403430   ⟸   ENST00000425118
RefSeq Acc Id: ENSP00000366748   ⟸   ENST00000377526
Protein Domains
CUE

Promoters
RGD ID:6860780
Promoter ID:EPDNEW_H3555
Type:initiation region
Name:AUP1_1
Description:ancient ubiquitous protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3556  EPDNEW_H3558  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,529,698 - 74,529,758EPDNEW
RGD ID:6860782
Promoter ID:EPDNEW_H3556
Type:initiation region
Name:AUP1_3
Description:ancient ubiquitous protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3555  EPDNEW_H3558  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,529,969 - 74,530,029EPDNEW
RGD ID:6860786
Promoter ID:EPDNEW_H3558
Type:initiation region
Name:AUP1_2
Description:ancient ubiquitous protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3555  EPDNEW_H3556  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38274,530,517 - 74,530,577EPDNEW
RGD ID:6796836
Promoter ID:HG_KWN:33350
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000328601,   OTTHUMT00000328602,   UC002SME.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,608,441 - 74,609,187 (-)MPROMDB
RGD ID:6797607
Promoter ID:HG_KWN:33351
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_145074,   OTTHUMT00000252219,   OTTHUMT00000328592,   OTTHUMT00000328593,   OTTHUMT00000328594,   OTTHUMT00000328595,   OTTHUMT00000328596,   OTTHUMT00000328600,   UC002SMK.1,   UC002SML.1,   UC002SMM.1,   UC002SMN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,610,046 - 74,611,897 (+)MPROMDB
RGD ID:6851026
Promoter ID:EP73303
Type:multiple initiation site
Name:HS_AUP1
Description:Ancient ubiquitous protein 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,610,323 - 74,610,383EPD
RGD ID:6796834
Promoter ID:HG_KWN:33352
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000258081,   OTTHUMT00000252228,   OTTHUMT00000280619,   OTTHUMT00000328598,   OTTHUMT00000328599,   UC002SMG.1,   UC002SMH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36274,610,546 - 74,611,502 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_181575.4(AUP1):c.871C>T (p.Pro291Ser) single nucleotide variant Malignant melanoma [RCV000065683] Chr2:74527561 [GRCh38]
Chr2:74754688 [GRCh37]
Chr2:74608196 [NCBI36]
Chr2:2p13.1
not provided
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3 copy number gain See cases [RCV000136651] Chr2:74432069..75181627 [GRCh38]
Chr2:74659196..75408753 [GRCh37]
Chr2:74512704..75262261 [NCBI36]
Chr2:2p13.1-12
likely benign|uncertain significance
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1 copy number loss See cases [RCV000143456] Chr2:74375779..75517520 [GRCh38]
Chr2:74602906..75744646 [GRCh37]
Chr2:74456414..75598154 [NCBI36]
Chr2:2p13.1-12
likely pathogenic
NM_181575.5(AUP1):c.129C>G (p.Leu43=) single nucleotide variant Parkinson disease 13 [RCV000263476] Chr2:74529421 [GRCh38]
Chr2:74756548 [GRCh37]
Chr2:2p13.1
benign|likely benign
NM_181575.5(AUP1):c.-15C>T single nucleotide variant Parkinson disease 13 [RCV000259797] Chr2:74529644 [GRCh38]
Chr2:74756771 [GRCh37]
Chr2:2p13.1
likely benign|uncertain significance
NM_181575.5(AUP1):c.90C>G (p.Leu30=) single nucleotide variant Parkinson disease 13 [RCV000299904] Chr2:74529460 [GRCh38]
Chr2:74756587 [GRCh37]
Chr2:2p13.1
likely benign
NM_181575.5(AUP1):c.25C>T (p.Pro9Ser) single nucleotide variant Parkinson disease 13 [RCV000354717] Chr2:74529605 [GRCh38]
Chr2:74756732 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_181575.5(AUP1):c.-64C>T single nucleotide variant Parkinson disease 13 [RCV000378857] Chr2:74529693 [GRCh38]
Chr2:74756820 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_181575.5(AUP1):c.-19C>T single nucleotide variant Parkinson disease 13 [RCV000324373] Chr2:74529648 [GRCh38]
Chr2:74756775 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_181575.5(AUP1):c.141C>T (p.Ile47=) single nucleotide variant Parkinson disease 13 [RCV001138431] Chr2:74529409 [GRCh38]
Chr2:74756536 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p13.1(chr2:74707255-74950792)x3 copy number gain See cases [RCV000448878] Chr2:74707255..74950792 [GRCh37]
Chr2:2p13.1
uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 copy number loss See cases [RCV000510763] Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 copy number loss not provided [RCV000682167] Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2
pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_181575.5(AUP1):c.51-4C>T single nucleotide variant Parkinson disease 13 [RCV001138432] Chr2:74529503 [GRCh38]
Chr2:74756630 [GRCh37]
Chr2:2p13.1
likely benign
NM_181575.5(AUP1):c.-17C>T single nucleotide variant Parkinson disease 13 [RCV001138433] Chr2:74529646 [GRCh38]
Chr2:74756773 [GRCh37]
Chr2:2p13.1
uncertain significance
NM_181575.5(AUP1):c.-54C>T single nucleotide variant Parkinson disease 13 [RCV001141006] Chr2:74529683 [GRCh38]
Chr2:74756810 [GRCh37]
Chr2:2p13.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:891 AgrOrtholog
COSMIC AUP1 COSMIC
Ensembl Genes ENSG00000115307 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000366748 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403430 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377526 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425118 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463900 ENTREZGENE
GTEx ENSG00000115307 GTEx
HGNC ID HGNC:891 ENTREZGENE
Human Proteome Map AUP1 Human Proteome Map
InterPro CUE UniProtKB/Swiss-Prot
KEGG Report hsa:550 UniProtKB/Swiss-Prot
NCBI Gene 550 ENTREZGENE
OMIM 602434 OMIM
Pfam CUE UniProtKB/Swiss-Prot
PharmGKB PA25182 PharmGKB
PROSITE CUE UniProtKB/Swiss-Prot
SMART CUE UniProtKB/Swiss-Prot
UniProt AUP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary C0H5W8 UniProtKB/Swiss-Prot
  Q9H866 UniProtKB/Swiss-Prot
  Q9UNQ6 UniProtKB/Swiss-Prot
  Q9Y685 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 AUP1  AUP1 lipid droplet regulating VLDL assembly factor    AUP1, lipid droplet regulating VLDL assembly factor  Symbol and/or name change 5135510 APPROVED
2017-10-04 AUP1  AUP1, lipid droplet regulating VLDL assembly factor    ancient ubiquitous protein 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 AUP1  ancient ubiquitous protein 1  AUP1  ancient ubiquitous protein 1  Symbol and/or name change 5135510 APPROVED