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    ATP11B ATPase phospholipid transporting 11B (putative) [ Homo sapiens (human) ]

    Gene ID: 23200, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ATP11Bprovided by HGNC
    Official Full Name
    ATPase phospholipid transporting 11B (putative)provided by HGNC
    Primary source
    HGNC:HGNC:13553
    See related
    Ensembl:ENSG00000058063 MIM:605869; AllianceGenome:HGNC:13553
    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
    ATPIF; ATPIR
    Summary
    P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
    Expression
    Ubiquitous expression in esophagus (RPKM 12.0), bone marrow (RPKM 11.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP11B in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (182793504..182921629)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (185598610..185726735)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (182511292..182639417)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986054 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5107 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20882 Neighboring gene MPRA-validated peak4955 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14932 Neighboring gene ATP11B divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:182516660-182517160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:182517161-182517661 Neighboring gene Sharpr-MPRA regulatory region 857 Neighboring gene EIF3E pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20883 Neighboring gene defective in cullin neddylation 1 domain containing 1 Neighboring gene C9orf85 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14935 Neighboring gene uncharacterized LOC105374246

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00606 promotes glioblastoma progression through sponge miR-486-3p and interaction with ATP11B.
      Title: LINC00606 promotes glioblastoma progression through sponge miR-486-3p and interaction with ATP11B.
    2. Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease.
      Title: Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease.
    3. colocalization of ATP11B with fluorescent cisplatin and with vesicular trafficking proteins, such as STX6 and VAMP4, strongly suggests that ATP11B contributes to secretory vesicular transport of cisplatin from Golgi to plasma membrane
      Title: ATP11B mediates platinum resistance in ovarian cancer.
    4. the region containing transmembrane domain 4, corresponding to exon 12, is present in the human homolog of the gene, ATP11B
      Title: Reanalysis of ATP11B, a type IV P-type ATPase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0956, MGC46576, DKFZp434J238, DKFZp434N1615

    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 ATPase-coupled intramembrane lipid transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monoatomic ion transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables phosphatidylethanolamine flippase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylserine floppase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aminophospholipid transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in monoatomic ion transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in azurophil granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nuclear inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phospholipid-transporting ATPase IF
    Names
    ATPase IR
    ATPase, class VI, type 11B
    P4-ATPase flippase complex alpha subunit ATP11B
    probable phospholipid-transporting ATPase IF
    NP_055431.1
    XP_011510895.1
    XP_011510896.1
    XP_011510899.1
    XP_016861497.1
    XP_047303740.1
    XP_054201806.1
    XP_054201807.1
    XP_054201808.1
    XP_054201809.1
    XP_054201810.1

    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_014616.3 → NP_055431.1  phospholipid-transporting ATPase IF

      See identical proteins and their annotated locations for NP_055431.1

      Status: VALIDATED

      Source sequence(s)
      AB023173, AF156548, AK296750, AK304855, AL133061, BI861412, BX489704, DR000074
      Consensus CDS
      CCDS33896.1
      UniProtKB/Swiss-Prot
      Q96FN1, Q9UKK7, Q9Y2G3
      Related
      ENSP00000321195.5, ENST00000323116.10
      Conserved Domains (6) summary
      TIGR01652
      Location:39 → 1106
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:96 → 180
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:494 → 605
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:35 → 89
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:847 → 1100
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:629 → 868
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      182793504..182921629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447784.1 → XP_047303740.1  phospholipid-transporting ATPase IF isoform X1

    2. XM_011512593.3 → XP_011510895.1  phospholipid-transporting ATPase IF isoform X2

      UniProtKB/TrEMBL
      H7C4W6
      Conserved Domains (6) summary
      TIGR01652
      Location:39 → 1106
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:96 → 180
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:494 → 605
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:35 → 89
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:847 → 1100
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:629 → 868
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    3. XM_011512594.3 → XP_011510896.1  phospholipid-transporting ATPase IF isoform X3

      Conserved Domains (6) summary
      TIGR01652
      Location:39 → 1106
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:96 → 180
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:494 → 605
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:35 → 89
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:847 → 1100
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:629 → 868
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    4. XM_011512597.3 → XP_011510899.1  phospholipid-transporting ATPase IF isoform X4

      UniProtKB/TrEMBL
      B4E3T1
      Related
      ENSP00000418421.1, ENST00000498086.6
      Conserved Domains (3) summary
      pfam13246
      Location:274 → 385
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:627 → 880
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:409 → 648
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    5. XM_017006008.2 → XP_016861497.1  phospholipid-transporting ATPase IF isoform X5

      UniProtKB/TrEMBL
      B4E3T1
      Conserved Domains (3) summary
      pfam13246
      Location:175 → 286
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:528 → 781
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:310 → 549
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      185598610..185726735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345831.1 → XP_054201806.1  phospholipid-transporting ATPase IF isoform X1

    2. XM_054345832.1 → XP_054201807.1  phospholipid-transporting ATPase IF isoform X2

    3. XM_054345833.1 → XP_054201808.1  phospholipid-transporting ATPase IF isoform X3

    4. XM_054345834.1 → XP_054201809.1  phospholipid-transporting ATPase IF isoform X4

    5. XM_054345835.1 → XP_054201810.1  phospholipid-transporting ATPase IF isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2G3.2 GenPept UniProtKB/Swiss-Prot:Q9Y2G3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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