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    ATP8B4 ATPase phospholipid transporting 8B4 (putative) [ Homo sapiens (human) ]

    Gene ID: 79895, updated on 3-Apr-2018
    Official Symbol
    ATP8B4provided by HGNC
    Official Full Name
    ATPase phospholipid transporting 8B4 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:13536
    See related
    Ensembl:ENSG00000104043 MIM:609123; Vega:OTTHUMG00000172368
    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
    ATPIM
    Summary
    This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
    Expression
    Broad expression in bone marrow (RPKM 8.4), placenta (RPKM 2.4) and 14 other tissues See more
    Orthologs
    Location:
    15q21.2
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (49858238..50181851, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50150435..50411419, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene DTW domain containing 1 Neighboring gene ring finger protein, LIM domain interacting pseudogene 3 Neighboring gene uncharacterized LOC102724587 Neighboring gene RNA, 5S ribosomal pseudogene 394 Neighboring gene ATP8B4 intron CAGE-defined high expression enhancer Neighboring gene solute carrier family 27 member 2 Neighboring gene RNA, 7SL, cytoplasmic 494, pseudogene Neighboring gene histidine decarboxylase

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
      Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Markers

    Homology

    Clone Names

    • FLJ25418

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid-translocating ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    phospholipid translocation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    tertiary granule membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    probable phospholipid-transporting ATPase IM
    Names
    ATPase, class I, type 8B, member 4
    P4-ATPase flippase complex alpha subunit ATP8B4
    potential phospholipid-transporting ATPase IM
    NP_079113.2
    XP_011520348.1
    XP_011520349.1
    XP_011520350.1
    XP_011520351.1
    XP_011520353.1
    XP_011520354.1
    XP_011520355.1
    XP_011520358.3
    XP_011520360.1
    XP_011520361.1
    XP_011520362.1
    XP_011520363.1
    XP_011520364.1
    XP_011520365.1
    XP_011520371.1
    XP_011520372.1
    XP_016878076.2
    XP_016878080.1
    XP_016878081.1
    XP_016878083.1
    XP_016878084.1
    XP_016878085.1
    XP_024305833.1
    XP_024305834.1
    XP_024305835.1
    XP_024305836.1
    XP_024305837.1
    XP_024305838.1

    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_024837.3NP_079113.2  probable phospholipid-transporting ATPase IM

      See identical proteins and their annotated locations for NP_079113.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript and encodes a protein that is supported by homologs in mouse and orangutan.
      Source sequence(s)
      BC057236, BC144297, BC144298, BE241899, BX647496
      Consensus CDS
      CCDS32238.1
      UniProtKB/Swiss-Prot
      Q8TF62
      UniProtKB/TrEMBL
      Q6PG43
      Related
      ENSP00000284509.6, ENST00000284509.10
      Conserved Domains (1) summary
      cd02073
      Location:30973
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    RNA

    1. NR_073596.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional internal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016045, BC144298, BE241899, BX647496
    2. NR_073597.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC144297, BC144298, BE241899, BX647496
    3. NR_073598.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB075819, AC016045, AC025040, BX647496
      Related
      ENST00000559726.5, OTTHUMT00000418099

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      49858238..50181851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522056.3XP_011520358.3  probable phospholipid-transporting ATPase IM isoform X3

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    2. XM_017022587.2XP_016878076.2  probable phospholipid-transporting ATPase IM isoform X6

      Conserved Domains (1) summary
      cd02073
      Location:30973
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    3. XM_011522051.3XP_011520353.1  probable phospholipid-transporting ATPase IM isoform X3

      See identical proteins and their annotated locations for XP_011520353.1

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    4. XM_011522058.3XP_011520360.1  probable phospholipid-transporting ATPase IM isoform X7

      See identical proteins and their annotated locations for XP_011520360.1

      Conserved Domains (4) summary
      TIGR01652
      Location:171021
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:392488
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:7601014
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:729760
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    5. XM_011522047.2XP_011520349.1  probable phospholipid-transporting ATPase IM isoform X3

      See identical proteins and their annotated locations for XP_011520349.1

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    6. XM_011522052.3XP_011520354.1  probable phospholipid-transporting ATPase IM isoform X3

      See identical proteins and their annotated locations for XP_011520354.1

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    7. XM_011522048.1XP_011520350.1  probable phospholipid-transporting ATPase IM isoform X3

      See identical proteins and their annotated locations for XP_011520350.1

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    8. XM_011522053.1XP_011520355.1  probable phospholipid-transporting ATPase IM isoform X3

      See identical proteins and their annotated locations for XP_011520355.1

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    9. XM_024450066.1XP_024305834.1  probable phospholipid-transporting ATPase IM isoform X4

      Conserved Domains (1) summary
      cd02073
      Location:67985
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    10. XM_024450067.1XP_024305835.1  probable phospholipid-transporting ATPase IM isoform X5

      Conserved Domains (1) summary
      cd02073
      Location:67975
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    11. XM_011522049.2XP_011520351.1  probable phospholipid-transporting ATPase IM isoform X3

      See identical proteins and their annotated locations for XP_011520351.1

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    12. XM_011522046.2XP_011520348.1  probable phospholipid-transporting ATPase IM isoform X1

      Conserved Domains (5) summary
      TIGR01652
      Location:651167
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:538634
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:51116
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:9061160
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:875906
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    13. XM_024450065.1XP_024305833.1  probable phospholipid-transporting ATPase IM isoform X2

      Conserved Domains (1) summary
      cd02073
      Location:671010
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    14. XM_017022592.1XP_016878081.1  probable phospholipid-transporting ATPase IM isoform X6

      UniProtKB/Swiss-Prot
      Q8TF62
      Conserved Domains (1) summary
      cd02073
      Location:30973
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    15. XM_017022591.1XP_016878080.1  probable phospholipid-transporting ATPase IM isoform X3

      Conserved Domains (1) summary
      cd02073
      Location:301001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    16. XM_017022594.1XP_016878083.1  probable phospholipid-transporting ATPase IM isoform X7

      Conserved Domains (4) summary
      TIGR01652
      Location:171021
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:392488
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:7601014
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:729760
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    17. XM_011522059.1XP_011520361.1  probable phospholipid-transporting ATPase IM isoform X8

      Conserved Domains (4) summary
      TIGR01652
      Location:111015
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:386482
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:7541008
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:723754
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    18. XM_011522061.1XP_011520363.1  probable phospholipid-transporting ATPase IM isoform X9

      See identical proteins and their annotated locations for XP_011520363.1

      Conserved Domains (4) summary
      TIGR01652
      Location:21003
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:374470
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:742996
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:711742
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    19. XM_011522060.1XP_011520362.1  probable phospholipid-transporting ATPase IM isoform X9

      See identical proteins and their annotated locations for XP_011520362.1

      Conserved Domains (4) summary
      TIGR01652
      Location:21003
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:374470
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:742996
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:711742
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    20. XM_017022595.2XP_016878084.1  probable phospholipid-transporting ATPase IM isoform X9

      Conserved Domains (4) summary
      TIGR01652
      Location:21003
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:374470
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:742996
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:711742
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    21. XM_011522062.1XP_011520364.1  probable phospholipid-transporting ATPase IM isoform X9

      See identical proteins and their annotated locations for XP_011520364.1

      Conserved Domains (4) summary
      TIGR01652
      Location:21003
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:374470
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:742996
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:711742
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    22. XM_011522063.1XP_011520365.1  probable phospholipid-transporting ATPase IM isoform X9

      See identical proteins and their annotated locations for XP_011520365.1

      Conserved Domains (4) summary
      TIGR01652
      Location:21003
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam13246
      Location:374470
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:742996
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:711742
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    23. XM_017022596.1XP_016878085.1  probable phospholipid-transporting ATPase IM isoform X12

      Conserved Domains (5) summary
      COG0474
      Location:8843
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
      TIGR01484
      Location:440621
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      pfam13246
      Location:262358
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:630884
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:599630
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    24. XM_024450069.1XP_024305837.1  probable phospholipid-transporting ATPase IM isoform X11

      Conserved Domains (1) summary
      cd02073
      Location:7789
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    25. XM_011522069.2XP_011520371.1  probable phospholipid-transporting ATPase IM isoform X13

      See identical proteins and their annotated locations for XP_011520371.1

      Conserved Domains (5) summary
      COG0474
      Location:1799
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
      TIGR01484
      Location:396577
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      pfam13246
      Location:218314
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:586840
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:555586
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    26. XM_011522070.1XP_011520372.1  probable phospholipid-transporting ATPase IM isoform X14

      Conserved Domains (5) summary
      COG0474
      Location:7601
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
      TIGR01484
      Location:198379
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      pfam13246
      Location:20116
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:388642
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:357388
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    27. XM_024450068.1XP_024305836.1  probable phospholipid-transporting ATPase IM isoform X10

      Conserved Domains (1) summary
      cd02073
      Location:671038
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    28. XM_024450070.1XP_024305838.1  probable phospholipid-transporting ATPase IM isoform X15

      Related
      ENSP00000453690.1, ENST00000557955.5
      Conserved Domains (1) summary
      cd02073
      Location:67706
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    RNA

    1. XR_002957685.1 RNA Sequence

    2. XR_002957686.1 RNA Sequence

    3. XR_002957687.1 RNA Sequence

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