PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
ATP8A1
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1

Overview

Alternate Names: ATPase II; ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1; OTTHUMP00000125252; aminophospholipid translocase
Alternate Symbols: ATPASEII; ATPIA; ATPP2; MGC130042; MGC130043; MGC26327
PharmGKB Accession Id: PA25165

Details

Cytogenetic Location: chr4 : p13
GP mRNA Boundary†: chr4 : 42109392 - 42353647
GP Gene Boundary†: chr4 : 42106392 - 42363647
Strand: minus
Product Name: ATPase II, ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1, aminophospholipid translocase
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Curated Annotations (Curated Annotation)

  1. rs12639920 at chr4:42107444 in ATP8A1
    This variant is significantly associated with late-onset Alzheimer disease (LOAD) in a GWAS study with 492 LOAD cases and 498 cognitive controls using Illumina's HumanHap550 beadchip.
    Related Diseases:
    Alzheimer Disease
    Evidence:
    PMID:19118814
Variant names are different names that have been used in the literature and other resources to refer to the same variant.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Alzheimer Disease
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

LinkOuts

Entrez Gene ID:
10396
OMIM Accession:
609542
UCSC Genome Browser ID:
NM_006095
Ref Seq NM Accession:
NM_001105529
NM_006095
Ref Seq NP Accession:
AAD34706
AAH20943
AAI09318
AAI09319
AAY40924
AAY40980
BAA77248
BAD92924
EAW93003
EAW93004
NP_001098999
NP_006086
Q32M35
Q32M36
Q4G1C1
Q4W5J7
Q4W5P2
Q59EX4
Q9Y2Q0
Ref Seq NT Accession:
AC_000047
AC_000136
NC_000004
NT_006238
NW_001838903
NW_922073
UniProtKB Accesssion:
AT8A1_HUMAN (Q9Y2Q0)
Ensembl ID:
ENSG00000124406
GenAtlas ID:
ATP8A1
GeneCard ID:
ATP8A1
SOURCE ID:
ATP8A1
MutDB ID:
ATP8A1
PromoLign ID:
ortho_1930
HuGE ID:
ATP8A1
Comparative Toxicogenomics Acc ID:
10396
ModBase:
Q9Y2Q0

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
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