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

Gene ID: 79895, updated on 25-Nov-2021

Summary

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
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
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Genomic context

See ATP8B4 in Genome Data Viewer
Location:
15q21.2
Exon count:
49
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (49858238..50181851, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50150435..50411430, 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 Sharpr-MPRA regulatory region 771 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

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25418

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled intramembrane lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
part_of phospholipid-translocating ATPase complex IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_024837.4NP_079113.2  probable phospholipid-transporting ATPase IM

    See identical proteins and their annotated locations for NP_079113.2

    Status: REVIEWED

    Source sequence(s)
    AC009753, BC057236, BC144297, BC144298, BE241899, BX647496
    Consensus CDS
    CCDS32238.1
    UniProtKB/Swiss-Prot
    Q8TF62
    UniProtKB/TrEMBL
    Q6PG43
    Related
    ENSP00000284509.6, ENST00000284509.11
    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_073596.2 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)
    AC009753, AC016045, BC144298, BE241899, BX647496
  2. NR_073597.2 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)
    AC009753, BC144297, BC144298, BE241899, BX647496
  3. NR_073598.2 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, AC009753, AC016045, AC025040, BX647496
    Related
    ENST00000559726.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 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 (1) summary
    cd02073
    Location:2874
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
  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 (1) summary
    cd02073
    Location:2874
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
  20. XM_017022595.2XP_016878084.1  probable phospholipid-transporting ATPase IM isoform X9

    Conserved Domains (1) summary
    cd02073
    Location:2874
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
  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 (1) summary
    cd02073
    Location:2874
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
  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 (1) summary
    cd02073
    Location:2874
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
  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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