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ATP9B ATPase phospholipid transporting 9B (putative) [ Homo sapiens (human) ]

Gene ID: 374868, updated on 2-Nov-2024

Summary

Official Symbol
ATP9Bprovided by HGNC
Official Full Name
ATPase phospholipid transporting 9B (putative)provided by HGNC
Primary source
HGNC:HGNC:13541
See related
Ensembl:ENSG00000166377 MIM:614446; AllianceGenome:HGNC:13541
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEO1L; hMMR1; ATPIIB; ATPASEP; HUSSY-20
Summary
Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 2.8), thyroid (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

See ATP9B in Genome Data Viewer
Location:
18q23
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (79069394..79378283)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (79318534..79632317)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (76829394..77138283)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:76741235-76742064 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:76743410-76744168 Neighboring gene NANOG hESC enhancer GRCh37_chr18:76744863-76745377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:76753804-76754785 Neighboring gene uncharacterized LOC105372225 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:76766909-76768108 Neighboring gene spalt like transcription factor 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:76816919-76817092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:76819471-76819970 Neighboring gene uncharacterized LOC124904331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:76905122-76905630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:76905631-76906137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13536 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:76941895-76942463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9568 Neighboring gene MPRA-validated peak3193 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:77005320-77006519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9569 Neighboring gene VISTA enhancer hs775 Neighboring gene uncharacterized LOC105372226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:77068942-77069442 Neighboring gene MPRA-validated peak3194 silencer Neighboring gene uncharacterized LOC124904332 Neighboring gene histidine-rich protein PFHRP-II-like Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:77121413-77122612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77138853-77139403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77140873-77141374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:77152806-77153331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:77153332-77153856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:77156322-77156869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77165018-77165613 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:77166804-77167397 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:77167420-77167581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:77171165-77171680 Neighboring gene octapeptide-repeat protein T2 Neighboring gene uncharacterized LOC124904334 Neighboring gene nuclear factor of activated T cells 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:77203425-77204271

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Phenotypes

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ATPase, class II, type 9B (ATP9B) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ46612, MGC61572, MGC150650, MGC150651, DKFZp686H2093

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled intramembrane lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in phospholipid translocation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
probable phospholipid-transporting ATPase IIB
Names
ATPase type IV, phospholipid transporting (P-type)
ATPase, class II, type 9B
macrophage MHC receptor 1
NP_001293014.1
NP_940933.3
XP_011524265.1
XP_011524266.1
XP_011524268.1
XP_011524273.2
XP_011524274.1
XP_011524275.1
XP_011524276.1
XP_016881215.1
XP_016881216.1
XP_016881217.1
XP_016881218.1
XP_016881219.1
XP_016881220.1
XP_016881221.1
XP_016881222.1
XP_016881223.1
XP_016881224.1
XP_016881225.1
XP_016881226.1
XP_016881231.1
XP_047293445.1
XP_047293446.1
XP_047293447.1
XP_047293448.1
XP_047293449.1
XP_047293450.1
XP_047293451.1
XP_047293452.1
XP_047293453.1
XP_047293454.1
XP_047293455.1
XP_047293456.1
XP_047293457.1
XP_047293458.1
XP_054174550.1
XP_054174551.1
XP_054174552.1
XP_054174553.1
XP_054174554.1
XP_054174555.1
XP_054174556.1
XP_054174557.1
XP_054174558.1
XP_054174559.1
XP_054174560.1
XP_054174561.1
XP_054174562.1
XP_054174563.1
XP_054174564.1
XP_054174565.1
XP_054174566.1
XP_054174567.1
XP_054174568.1
XP_054174569.1
XP_054174570.1
XP_054174571.1
XP_054174572.1
XP_054174573.1
XP_054174574.1
XP_054174575.1
XP_054174576.1
XP_054174577.1
XP_054174578.1
XP_054174579.1
XP_054174580.1
XP_054174581.1
XP_054174582.1
XP_054174583.1

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_001306085.2NP_001293014.1  probable phospholipid-transporting ATPase IIB isoform 2

    See identical proteins and their annotated locations for NP_001293014.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL096735, AW411030, BC125219, HY028472
    Consensus CDS
    CCDS77202.1
    UniProtKB/Swiss-Prot
    O43861
    UniProtKB/TrEMBL
    Q69YZ7
    Related
    ENSP00000304500.7, ENST00000307671.12
    Conserved Domains (6) summary
    TIGR01652
    Location:1311131
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:223426
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:578660
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:124181
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:9001128
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:854895
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_198531.5NP_940933.3  probable phospholipid-transporting ATPase IIB isoform 1

    See identical proteins and their annotated locations for NP_940933.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK093704, AL096735, AW411030, BC022535, BC037546, BX537860, HY028472
    Consensus CDS
    CCDS12014.1
    UniProtKB/Swiss-Prot
    O43861, O60872, Q08AD8, Q08AD9
    Related
    ENSP00000398076.2, ENST00000426216.6
    Conserved Domains (6) summary
    TIGR01652
    Location:1311142
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:223426
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:578660
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:124181
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:9001139
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:854895
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. NR_148360.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains multiple alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023090, AC099689, AC104423, AC125437, AW411030

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    79069394..79378283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025726.2XP_016881215.1  probable phospholipid-transporting ATPase IIB isoform X3

  2. XM_011525963.3XP_011524265.1  probable phospholipid-transporting ATPase IIB isoform X1

    Conserved Domains (6) summary
    TIGR01652
    Location:1321169
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:224427
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:579661
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:125182
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:9271166
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:881922
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_017025727.2XP_016881216.1  probable phospholipid-transporting ATPase IIB isoform X4

  4. XM_017025731.2XP_016881220.1  probable phospholipid-transporting ATPase IIB isoform X11

  5. XM_017025728.3XP_016881217.1  probable phospholipid-transporting ATPase IIB isoform X6

  6. XM_017025730.2XP_016881219.1  probable phospholipid-transporting ATPase IIB isoform X8

  7. XM_017025732.2XP_016881221.1  probable phospholipid-transporting ATPase IIB isoform X13

  8. XM_017025733.2XP_016881222.1  probable phospholipid-transporting ATPase IIB isoform X16

  9. XM_011525964.3XP_011524266.1  probable phospholipid-transporting ATPase IIB isoform X2

    Conserved Domains (6) summary
    TIGR01652
    Location:1311168
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:223426
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:578660
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:124181
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:9261165
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:880921
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  10. XM_047437489.1XP_047293445.1  probable phospholipid-transporting ATPase IIB isoform X5

  11. XM_047437492.1XP_047293448.1  probable phospholipid-transporting ATPase IIB isoform X14

  12. XM_047437494.1XP_047293450.1  probable phospholipid-transporting ATPase IIB isoform X17

  13. XM_017025729.2XP_016881218.1  probable phospholipid-transporting ATPase IIB isoform X7

  14. XM_047437496.1XP_047293452.1  probable phospholipid-transporting ATPase IIB isoform X22

  15. XM_047437495.1XP_047293451.1  probable phospholipid-transporting ATPase IIB isoform X20

  16. XM_017025736.3XP_016881225.1  probable phospholipid-transporting ATPase IIB isoform X21

  17. XM_017025735.3XP_016881224.1  probable phospholipid-transporting ATPase IIB isoform X19

  18. XM_047437499.1XP_047293455.1  probable phospholipid-transporting ATPase IIB isoform X26

  19. XM_017025737.2XP_016881226.1  probable phospholipid-transporting ATPase IIB isoform X24

  20. XM_017025734.2XP_016881223.1  probable phospholipid-transporting ATPase IIB isoform X18

  21. XM_047437498.1XP_047293454.1  probable phospholipid-transporting ATPase IIB isoform X25

  22. XM_047437500.1XP_047293456.1  probable phospholipid-transporting ATPase IIB isoform X27

  23. XM_047437497.1XP_047293453.1  probable phospholipid-transporting ATPase IIB isoform X23

  24. XM_017025742.2XP_016881231.1  probable phospholipid-transporting ATPase IIB isoform X34

  25. XM_047437490.1XP_047293446.1  probable phospholipid-transporting ATPase IIB isoform X9

  26. XM_047437491.1XP_047293447.1  probable phospholipid-transporting ATPase IIB isoform X12

  27. XM_047437493.1XP_047293449.1  probable phospholipid-transporting ATPase IIB isoform X15

  28. XM_011525966.3XP_011524268.1  probable phospholipid-transporting ATPase IIB isoform X10

    See identical proteins and their annotated locations for XP_011524268.1

    Conserved Domains (6) summary
    TIGR01652
    Location:921129
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:184387
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:539621
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:85142
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8871126
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:841882
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  29. XM_011525972.3XP_011524274.1  probable phospholipid-transporting ATPase IIB isoform X29

    Conserved Domains (4) summary
    pfam00122
    Location:78177
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:329411
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:677916
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:631672
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  30. XM_011525974.3XP_011524276.1  probable phospholipid-transporting ATPase IIB isoform X31

    Conserved Domains (4) summary
    pfam00122
    Location:21120
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:272354
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:620859
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:574615
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  31. XM_011525971.3XP_011524273.2  probable phospholipid-transporting ATPase IIB isoform X28

  32. XM_011525973.3XP_011524275.1  probable phospholipid-transporting ATPase IIB isoform X30

    Conserved Domains (4) summary
    pfam00122
    Location:37136
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:288370
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:636875
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:590631
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  33. XM_047437501.1XP_047293457.1  probable phospholipid-transporting ATPase IIB isoform X32

  34. XM_047437502.1XP_047293458.1  probable phospholipid-transporting ATPase IIB isoform X33

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    79318534..79632317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318575.1XP_054174550.1  probable phospholipid-transporting ATPase IIB isoform X1

  2. XM_054318582.1XP_054174557.1  probable phospholipid-transporting ATPase IIB isoform X8

  3. XM_054318576.1XP_054174551.1  probable phospholipid-transporting ATPase IIB isoform X2

  4. XM_054318579.1XP_054174554.1  probable phospholipid-transporting ATPase IIB isoform X5

  5. XM_054318588.1XP_054174563.1  probable phospholipid-transporting ATPase IIB isoform X14

  6. XM_054318591.1XP_054174566.1  probable phospholipid-transporting ATPase IIB isoform X17

  7. XM_054318600.1XP_054174575.1  probable phospholipid-transporting ATPase IIB isoform X26

  8. XM_054318599.1XP_054174574.1  probable phospholipid-transporting ATPase IIB isoform X25

  9. XM_054318601.1XP_054174576.1  probable phospholipid-transporting ATPase IIB isoform X27

  10. XM_054318597.1XP_054174572.1  probable phospholipid-transporting ATPase IIB isoform X23

  11. XM_054318577.1XP_054174552.1  probable phospholipid-transporting ATPase IIB isoform X3

  12. XM_054318578.1XP_054174553.1  probable phospholipid-transporting ATPase IIB isoform X4

  13. XM_054318585.1XP_054174560.1  probable phospholipid-transporting ATPase IIB isoform X11

  14. XM_054318580.1XP_054174555.1  probable phospholipid-transporting ATPase IIB isoform X6

  15. XM_054318587.1XP_054174562.1  probable phospholipid-transporting ATPase IIB isoform X13

  16. XM_054318590.1XP_054174565.1  probable phospholipid-transporting ATPase IIB isoform X16

  17. XM_054318583.1XP_054174558.1  probable phospholipid-transporting ATPase IIB isoform X9

  18. XM_054318586.1XP_054174561.1  probable phospholipid-transporting ATPase IIB isoform X12

  19. XM_054318589.1XP_054174564.1  probable phospholipid-transporting ATPase IIB isoform X15

  20. XM_054318581.1XP_054174556.1  probable phospholipid-transporting ATPase IIB isoform X7

  21. XM_054318596.1XP_054174571.1  probable phospholipid-transporting ATPase IIB isoform X22

  22. XM_054318594.1XP_054174569.1  probable phospholipid-transporting ATPase IIB isoform X20

  23. XM_054318595.1XP_054174570.1  probable phospholipid-transporting ATPase IIB isoform X21

  24. XM_054318593.1XP_054174568.1  probable phospholipid-transporting ATPase IIB isoform X19

  25. XM_054318598.1XP_054174573.1  probable phospholipid-transporting ATPase IIB isoform X24

  26. XM_054318592.1XP_054174567.1  probable phospholipid-transporting ATPase IIB isoform X18

  27. XM_054318608.1XP_054174583.1  probable phospholipid-transporting ATPase IIB isoform X34

  28. XM_054318584.1XP_054174559.1  probable phospholipid-transporting ATPase IIB isoform X10

  29. XM_054318603.1XP_054174578.1  probable phospholipid-transporting ATPase IIB isoform X29

  30. XM_054318605.1XP_054174580.1  probable phospholipid-transporting ATPase IIB isoform X31

  31. XM_054318602.1XP_054174577.1  probable phospholipid-transporting ATPase IIB isoform X28

  32. XM_054318604.1XP_054174579.1  probable phospholipid-transporting ATPase IIB isoform X30

  33. XM_054318606.1XP_054174581.1  probable phospholipid-transporting ATPase IIB isoform X32

  34. XM_054318607.1XP_054174582.1  probable phospholipid-transporting ATPase IIB isoform X33