ATP8A1 (ATPase phospholipid transporting 8A1) - Rat Genome Database

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Gene: ATP8A1 (ATPase phospholipid transporting 8A1) Homo sapiens
Analyze
Symbol: ATP8A1
Name: ATPase phospholipid transporting 8A1
RGD ID: 1320053
HGNC Page HGNC
Description: Exhibits phosphatidylserine flippase activity. Involved in aminophospholipid translocation. Localizes to several cellular components, including Golgi apparatus; endoplasmic reticulum; and phospholipid-translocating ATPase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aminophospholipid translocase; ATPase class I type 8A member 1; ATPase II; ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1; ATPASEII; ATPIA; ATPP2; chromaffin granule ATPase II; MGC130042; MGC130043; MGC26327; P4-ATPase flippase complex alpha subunit ATP8A1; phospholipid-transporting ATPase IA; probable phospholipid-transporting ATPase IA
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 Ensembl442,408,373 - 42,657,105 (-)EnsemblGRCh38hg38GRCh38
GRCh38442,408,373 - 42,657,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37442,410,390 - 42,659,122 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36442,105,147 - 42,353,879 (-)NCBINCBI36hg18NCBI36
Build 34442,255,562 - 42,499,818NCBI
Celera442,858,235 - 43,107,011 (-)NCBI
Cytogenetic Map4p13NCBI
HuRef441,731,596 - 41,980,330 (-)NCBIHuRef
CHM1_1442,410,660 - 42,659,431 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10198212   PMID:11015572   PMID:12477932   PMID:15071553   PMID:15342556   PMID:15919184   PMID:17229723   PMID:18519826   PMID:19946888   PMID:20379614  
PMID:20947505   PMID:21873635   PMID:21914794   PMID:22610502   PMID:23269685   PMID:23533145   PMID:25338677   PMID:25595798   PMID:26415732   PMID:27287255   PMID:28514442   PMID:29093443  
PMID:29507755   PMID:30280653   PMID:30282721   PMID:30457983   PMID:30674456   PMID:31416931  


Genomics

Comparative Map Data
ATP8A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl442,408,373 - 42,657,105 (-)EnsemblGRCh38hg38GRCh38
GRCh38442,408,373 - 42,657,105 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37442,410,390 - 42,659,122 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36442,105,147 - 42,353,879 (-)NCBINCBI36hg18NCBI36
Build 34442,255,562 - 42,499,818NCBI
Celera442,858,235 - 43,107,011 (-)NCBI
Cytogenetic Map4p13NCBI
HuRef441,731,596 - 41,980,330 (-)NCBIHuRef
CHM1_1442,410,660 - 42,659,431 (-)NCBICHM1_1
Atp8a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39567,775,482 - 68,004,822 (-)NCBIGRCm39mm39
GRCm39 Ensembl567,775,483 - 68,004,777 (-)Ensembl
GRCm38567,618,139 - 67,847,484 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl567,618,140 - 67,847,434 (-)EnsemblGRCm38mm10GRCm38
MGSCv37568,009,379 - 68,238,670 (-)NCBIGRCm37mm9NCBIm37
MGSCv36567,897,275 - 68,126,566 (-)NCBImm8
Celera564,913,563 - 65,141,756 (-)NCBICelera
Cytogenetic Map5C3.1NCBI
Atp8a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21440,315,013 - 40,557,572 (+)NCBI
Rnor_6.0 Ensembl1442,015,347 - 42,206,311 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01441,972,398 - 42,210,555 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01441,770,273 - 42,007,304 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41442,923,309 - 43,165,666 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11442,961,030 - 43,105,186 (+)NCBI
Celera1439,507,549 - 39,715,322 (+)NCBICelera
Cytogenetic Map14p11NCBI
Atp8a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554435,142,049 - 5,362,147 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554435,142,049 - 5,362,031 (+)NCBIChiLan1.0ChiLan1.0
ATP8A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1442,577,993 - 42,826,610 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl442,582,538 - 42,826,446 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0436,729,820 - 36,978,825 (-)NCBIMhudiblu_PPA_v0panPan3
ATP8A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11339,366,692 - 39,588,879 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1339,368,470 - 39,588,885 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1339,341,834 - 39,565,900 (-)NCBI
ROS_Cfam_1.01339,855,496 - 40,079,905 (-)NCBI
UMICH_Zoey_3.11339,543,722 - 39,767,959 (-)NCBI
UNSW_CanFamBas_1.01339,656,584 - 39,880,750 (-)NCBI
UU_Cfam_GSD_1.01340,121,639 - 40,345,993 (-)NCBI
Atp8a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528536,519,932 - 36,736,026 (+)NCBI
SpeTri2.0NW_0049364829,562,214 - 9,778,494 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP8A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl833,387,590 - 33,638,841 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1833,384,493 - 33,637,299 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2835,180,910 - 35,309,833 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATP8A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1277,667,704 - 7,933,337 (+)NCBI
ChlSab1.1 Ensembl277,667,781 - 7,933,325 (+)Ensembl
Atp8a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476124,285,317 - 24,508,837 (+)NCBI

Position Markers
D4S3277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,410,474 - 42,410,666UniSTSGRCh37
Build 36442,105,231 - 42,105,423RGDNCBI36
Celera442,858,319 - 42,858,511RGD
Cytogenetic Map4p13UniSTS
HuRef441,731,680 - 41,731,872UniSTS
TNG Radiation Hybrid Map422395.0UniSTS
Stanford-G3 RH Map42606.0UniSTS
NCBI RH Map4503.5UniSTS
GeneMap99-G3 RH Map42590.0UniSTS
SHGC-146639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,484,307 - 42,484,611UniSTSGRCh37
Build 36442,179,064 - 42,179,368RGDNCBI36
Celera442,932,184 - 42,932,488RGD
Cytogenetic Map4p13UniSTS
HuRef441,805,537 - 41,805,842UniSTS
TNG Radiation Hybrid Map422171.0UniSTS
SHGC-148448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,423,106 - 42,423,298UniSTSGRCh37
Build 36442,117,863 - 42,118,055RGDNCBI36
Celera442,870,953 - 42,871,145RGD
Cytogenetic Map4p13UniSTS
HuRef441,744,310 - 41,744,502UniSTS
TNG Radiation Hybrid Map422404.0UniSTS
G09524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,564,389 - 42,564,537UniSTSGRCh37
Build 36442,259,146 - 42,259,294RGDNCBI36
Celera443,012,259 - 43,012,407RGD
Cytogenetic Map4p13UniSTS
HuRef441,885,531 - 41,885,679UniSTS
ATP8A1_9102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,414,436 - 42,414,992UniSTSGRCh37
Build 36442,109,193 - 42,109,749RGDNCBI36
Celera442,862,281 - 42,862,837RGD
HuRef441,735,642 - 41,736,198UniSTS
SHGC-59604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,411,427 - 42,411,689UniSTSGRCh37
Build 36442,106,184 - 42,106,446RGDNCBI36
Celera442,859,272 - 42,859,534RGD
Cytogenetic Map4p13UniSTS
HuRef441,732,633 - 41,732,895UniSTS
GeneMap99-GB4 RH Map4204.19UniSTS
NCBI RH Map4504.6UniSTS
WI-19830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,410,435 - 42,410,704UniSTSGRCh37
Build 36442,105,192 - 42,105,461RGDNCBI36
Celera442,858,280 - 42,858,549RGD
Cytogenetic Map4p13UniSTS
HuRef441,731,641 - 41,731,910UniSTS
GeneMap99-GB4 RH Map4205.43UniSTS
Whitehead-RH Map4219.4UniSTS
NCBI RH Map4507.4UniSTS
SHGC-36481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377140,706,002 - 140,706,076UniSTSGRCh37
GRCh37442,609,693 - 42,609,767UniSTSGRCh37
Build 36442,304,450 - 42,304,524RGDNCBI36
Celera443,057,564 - 43,057,638RGD
Celera7135,428,027 - 135,428,101UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p13UniSTS
HuRef441,930,845 - 41,930,919UniSTS
HuRef7135,002,001 - 135,002,075UniSTS
CRA_TCAGchr7v27140,044,325 - 140,044,399UniSTS
TNG Radiation Hybrid Map424599.0UniSTS
Stanford-G3 RH Map42569.0UniSTS
NCBI RH Map4501.6UniSTS
GeneMap99-G3 RH Map42553.0UniSTS
D4S1207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37442,484,872 - 42,485,021UniSTSGRCh37
Build 36442,179,629 - 42,179,778RGDNCBI36
Celera442,932,749 - 42,932,898RGD
Cytogenetic Map4p13UniSTS
HuRef441,806,103 - 41,806,252UniSTS
TNG Radiation Hybrid Map422192.0UniSTS
Stanford-G3 RH Map42597.0UniSTS
NCBI RH Map4502.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6967
Count of miRNA genes:1255
Interacting mature miRNAs:1595
Transcripts:ENST00000264449, ENST00000381668, ENST00000504024, ENST00000504510, ENST00000506602, ENST00000506713, ENST00000510289, ENST00000511858, ENST00000514372, ENST00000515872
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 682 166 986 5 993 5 1271 442 3081 84 396 1247 2 230 1017
Low 1738 2782 614 497 913 337 3041 1730 623 314 1020 319 167 1 973 1771 1 1
Below cutoff 18 41 123 119 43 121 33 23 22 19 40 40 4 1 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_925117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_925118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB013452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY775564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY775565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP232466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264449   ⟹   ENSP00000264449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,408,377 - 42,657,093 (-)Ensembl
RefSeq Acc Id: ENST00000381668   ⟹   ENSP00000371084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,408,373 - 42,657,105 (-)Ensembl
RefSeq Acc Id: ENST00000504024   ⟹   ENSP00000427295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,581,692 - 42,616,078 (-)Ensembl
RefSeq Acc Id: ENST00000504510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,581,682 - 42,588,617 (-)Ensembl
RefSeq Acc Id: ENST00000506602   ⟹   ENSP00000421164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,423,617 - 42,485,513 (-)Ensembl
RefSeq Acc Id: ENST00000506713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,552,555 - 42,556,235 (-)Ensembl
RefSeq Acc Id: ENST00000510289   ⟹   ENSP00000426636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,625,141 - 42,657,093 (-)Ensembl
RefSeq Acc Id: ENST00000511858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,412,975 - 42,415,147 (-)Ensembl
RefSeq Acc Id: ENST00000514372   ⟹   ENSP00000426495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,408,373 - 42,507,154 (-)Ensembl
RefSeq Acc Id: ENST00000515872   ⟹   ENSP00000426935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl442,459,358 - 42,465,075 (-)Ensembl
RefSeq Acc Id: NM_001105529   ⟹   NP_001098999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
GRCh37442,410,390 - 42,659,122 (-)RGD
Build 36442,105,147 - 42,353,879 (-)NCBI Archive
Celera442,858,235 - 43,107,011 (-)RGD
HuRef441,731,596 - 41,980,330 (-)RGD
CHM1_1442,410,660 - 42,659,431 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006095   ⟹   NP_006086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
GRCh37442,410,390 - 42,659,122 (-)RGD
Build 36442,105,147 - 42,353,879 (-)NCBI Archive
Celera442,858,235 - 43,107,011 (-)RGD
HuRef441,731,596 - 41,980,330 (-)RGD
CHM1_1442,410,660 - 42,659,431 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248043   ⟹   XP_005248100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
GRCh37442,410,390 - 42,659,122 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513615   ⟹   XP_011511917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513616   ⟹   XP_011511918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513618   ⟹   XP_011511920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007645   ⟹   XP_016863134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007646   ⟹   XP_016863135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,081 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007647   ⟹   XP_016863136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,079 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001741094
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
RefSeq Acc Id: XR_925117
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
RefSeq Acc Id: XR_925118
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38442,408,373 - 42,657,105 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006086   ⟸   NM_006095
- Peptide Label: isoform a
- UniProtKB: Q9Y2Q0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001098999   ⟸   NM_001105529
- Peptide Label: isoform b
- UniProtKB: Q9Y2Q0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005248100   ⟸   XM_005248043
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011511918   ⟸   XM_011513616
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011511920   ⟸   XM_011513618
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011511917   ⟸   XM_011513615
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016863134   ⟸   XM_017007645
- Peptide Label: isoform X5
- UniProtKB: Q9Y2Q0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863135   ⟸   XM_017007646
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016863136   ⟸   XM_017007647
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000427295   ⟸   ENST00000504024
RefSeq Acc Id: ENSP00000421164   ⟸   ENST00000506602
RefSeq Acc Id: ENSP00000426636   ⟸   ENST00000510289
RefSeq Acc Id: ENSP00000371084   ⟸   ENST00000381668
RefSeq Acc Id: ENSP00000264449   ⟸   ENST00000264449
RefSeq Acc Id: ENSP00000426495   ⟸   ENST00000514372
RefSeq Acc Id: ENSP00000426935   ⟸   ENST00000515872
Protein Domains
PhoLip_ATPase_C

Promoters
RGD ID:6802199
Promoter ID:HG_KWN:48139
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000264449,   ENST00000381662
Position:
Human AssemblyChrPosition (strand)Source
Build 36442,338,261 - 42,339,462 (-)MPROMDB
RGD ID:6802061
Promoter ID:HG_KWN:48140
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000381668,   NM_001105529
Position:
Human AssemblyChrPosition (strand)Source
Build 36442,353,786 - 42,354,382 (-)MPROMDB
RGD ID:6867314
Promoter ID:EPDNEW_H6822
Type:initiation region
Name:ATP8A1_1
Description:ATPase phospholipid transporting 8A1
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
GRCh38442,657,093 - 42,657,153EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001105529.1(ATP8A1):c.2441C>T (p.Ser814Phe) single nucleotide variant Malignant melanoma [RCV000066427] Chr4:42464915 [GRCh38]
Chr4:42466932 [GRCh37]
Chr4:42161689 [NCBI36]
Chr4:4p13
not provided
NM_001105529.1(ATP8A1):c.210C>T (p.Tyr70=) single nucleotide variant Malignant melanoma [RCV000066428] Chr4:42625668 [GRCh38]
Chr4:42627685 [GRCh37]
Chr4:42322442 [NCBI36]
Chr4:4p13
not provided
NM_001105529.1(ATP8A1):c.2280-1G>A single nucleotide variant Malignant melanoma [RCV000060997] Chr4:42465077 [GRCh38]
Chr4:42467094 [GRCh37]
Chr4:42161851 [NCBI36]
Chr4:4p13
not provided
NM_001105529.1(ATP8A1):c.903A>T (p.Leu301Phe) single nucleotide variant Malignant melanoma [RCV000060998] Chr4:42579910 [GRCh38]
Chr4:42581927 [GRCh37]
Chr4:42276684 [NCBI36]
Chr4:4p13
not provided
NM_001105529.1(ATP8A1):c.1678-3926G>C single nucleotide variant Lung cancer [RCV000094742] Chr4:42528773 [GRCh38]
Chr4:42530790 [GRCh37]
Chr4:4p13
uncertain significance
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 copy number gain See cases [RCV000134946] Chr4:40496476..49579850 [GRCh38]
Chr4:40498493..49581867 [GRCh37]
Chr4:40193250..49276624 [NCBI36]
Chr4:4p14-11
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3 copy number gain See cases [RCV000138039] Chr4:39444586..46117146 [GRCh38]
Chr4:39446206..46119163 [GRCh37]
Chr4:39122601..45813920 [NCBI36]
Chr4:4p14-12
uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p13(chr4:42507384-43027048)x3 copy number gain See cases [RCV000448510] Chr4:42507384..43027048 [GRCh37]
Chr4:4p13
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3 copy number gain not provided [RCV000682397] Chr4:42193789..47001790 [GRCh37]
Chr4:4p13-12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_006095.2(ATP8A1):c.3213-4G>T single nucleotide variant not provided [RCV000950396] Chr4:42422903 [GRCh38]
Chr4:42424920 [GRCh37]
Chr4:4p13
likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p13-12(chr4:42626603-45438191)x1 copy number loss not provided [RCV001005536] Chr4:42626603..45438191 [GRCh37]
Chr4:4p13-12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13531 AgrOrtholog
COSMIC ATP8A1 COSMIC
Ensembl Genes ENSG00000124406 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000371084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421164 UniProtKB/TrEMBL
  ENSP00000426495 UniProtKB/TrEMBL
  ENSP00000426636 UniProtKB/TrEMBL
  ENSP00000426935 UniProtKB/TrEMBL
  ENSP00000427295 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381668 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504024 UniProtKB/TrEMBL
  ENST00000506602 UniProtKB/TrEMBL
  ENST00000510289 UniProtKB/TrEMBL
  ENST00000514372 UniProtKB/TrEMBL
  ENST00000515872 UniProtKB/TrEMBL
Gene3D-CATH 3.40.1110.10 UniProtKB/Swiss-Prot
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124406 GTEx
HGNC ID HGNC:13531 ENTREZGENE
Human Proteome Map ATP8A1 Human Proteome Map
InterPro ATPase_P-typ_cyto_dom_N UniProtKB/Swiss-Prot
  ATPase_P-typ_P_site UniProtKB/Swiss-Prot
  ATPase_P-typ_TM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_P-typ_transduc_dom_A_sf UniProtKB/Swiss-Prot
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-type_ATPase_N UniProtKB/Swiss-Prot
  P_typ_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_typ_ATPase_HD_dom UniProtKB/Swiss-Prot
KEGG Report hsa:10396 UniProtKB/Swiss-Prot
NCBI Gene 10396 ENTREZGENE
OMIM 609542 OMIM
PANTHER PTHR24092 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PhoLip_ATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PhoLip_ATPase_N UniProtKB/Swiss-Prot
PharmGKB PA25165 PharmGKB
PROSITE ATPASE_E1_E2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81653 UniProtKB/Swiss-Prot
  SSF81660 UniProtKB/Swiss-Prot
  SSF81665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ATPase-Plipid UniProtKB/Swiss-Prot
  ATPase_P-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AT8A1_HUMAN UniProtKB/Swiss-Prot
  H0Y8I6_HUMAN UniProtKB/TrEMBL
  H0YAA1_HUMAN UniProtKB/TrEMBL
  H0YAF4_HUMAN UniProtKB/TrEMBL
  H0YAJ4_HUMAN UniProtKB/TrEMBL
  Q4G1C1_HUMAN UniProtKB/TrEMBL
  Q9Y2Q0 ENTREZGENE
UniProt Secondary Q32M35 UniProtKB/Swiss-Prot
  Q32M36 UniProtKB/Swiss-Prot
  Q4W5J7 UniProtKB/Swiss-Prot
  Q4W5P2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 ATP8A1  ATPase phospholipid transporting 8A1    ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 ATP8A1  ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1  ATP8A1  ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1  Symbol and/or name change 5135510 APPROVED