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ATP8A1 ATPase phospholipid transporting 8A1 [ Homo sapiens (human) ]

Gene ID: 10396, updated on 17-Nov-2020

Summary

Official Symbol
ATP8A1provided by HGNC
Official Full Name
ATPase phospholipid transporting 8A1provided by HGNC
Primary source
HGNC:HGNC:13531
See related
Ensembl:ENSG00000124406 MIM:609542
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATPIA; ATPP2; ATPASEII
Summary
The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 28.9), thyroid (RPKM 28.5) and 20 other tissues See more
Orthologs

Genomic context

See ATP8A1 in Genome Data Viewer
Location:
4p13
Exon count:
39
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (42408373..42657105, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (42410390..42659122, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374428 Neighboring gene Sharpr-MPRA regulatory region 6384 Neighboring gene shisa family member 3 Neighboring gene ribosomal protein S7 pseudogene 7 Neighboring gene cyclin L2 pseudogene 1 Neighboring gene uncharacterized LOC105374430 Neighboring gene RN7SK pseudogene 82

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
GeneReviews: Not available
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26327, MGC130042, MGC130043

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ATPase-coupled cation transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
ATPase-coupled intramembrane lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flippase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylserine flippase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
aminophospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
lipid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid translocation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phospholipid translocation IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule membrane TAS
Traceable Author Statement
more info
 
chromaffin granule membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
organelle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
phospholipid-translocating ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
phospholipid-transporting ATPase IA
Names
ATPase II
ATPase class I type 8A member 1
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
P4-ATPase flippase complex alpha subunit ATP8A1
aminophospholipid translocase
chromaffin granule ATPase II
probable phospholipid-transporting ATPase IA
NP_001098999.1
NP_006086.1
XP_005248100.1
XP_011511917.1
XP_011511918.1
XP_011511920.1
XP_016863134.1
XP_016863135.1
XP_016863136.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001105529.1NP_001098999.1  phospholipid-transporting ATPase IA isoform b

    See identical proteins and their annotated locations for NP_001098999.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple changes in the coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC084010, BC109317, BP232466
    Consensus CDS
    CCDS47049.1
    UniProtKB/Swiss-Prot
    Q9Y2Q0
    Related
    ENSP00000264449.10, ENST00000264449.14
    Conserved Domains (6) summary
    TIGR01652
    Location:491071
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:471566
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8121064
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:781831
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_006095.2NP_006086.1  phospholipid-transporting ATPase IA isoform a

    See identical proteins and their annotated locations for NP_006086.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC084010, AF067820, BP232466
    Consensus CDS
    CCDS3466.1
    UniProtKB/Swiss-Prot
    Q9Y2Q0
    Related
    ENSP00000371084.5, ENST00000381668.9
    Conserved Domains (6) summary
    TIGR01652
    Location:491086
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8271079
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:796846
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    42408373..42657105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007645.2XP_016863134.1  phospholipid-transporting ATPase IA isoform X5

    UniProtKB/Swiss-Prot
    Q9Y2Q0
  2. XM_011513616.3XP_011511918.1  phospholipid-transporting ATPase IA isoform X2

    Conserved Domains (6) summary
    TIGR01652
    Location:491093
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8341086
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:803853
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_011513618.2XP_011511920.1  phospholipid-transporting ATPase IA isoform X4

    Conserved Domains (6) summary
    TIGR01652
    Location:491078
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:471566
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8191071
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:788838
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. XM_005248043.3XP_005248100.1  phospholipid-transporting ATPase IA isoform X3

    Conserved Domains (6) summary
    TIGR01652
    Location:491086
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8271079
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:796846
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  5. XM_011513615.2XP_011511917.1  phospholipid-transporting ATPase IA isoform X1

    Conserved Domains (6) summary
    TIGR01652
    Location:491093
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:106191
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:486581
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:38100
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8341086
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:803853
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  6. XM_017007646.1XP_016863135.1  phospholipid-transporting ATPase IA isoform X6

    Conserved Domains (5) summary
    COG0474
    Location:18930
    MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
    TIGR01484
    Location:489661
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam13246
    Location:322417
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:670922
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:639689
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  7. XM_017007647.1XP_016863136.1  phospholipid-transporting ATPase IA isoform X7

RNA

  1. XR_925118.2 RNA Sequence

  2. XR_001741094.2 RNA Sequence

  3. XR_925117.3 RNA Sequence

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