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    ATP11C ATPase phospholipid transporting 11C [ Homo sapiens (human) ]

    Gene ID: 286410, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATP11Cprovided by HGNC
    Official Full Name
    ATPase phospholipid transporting 11Cprovided by HGNC
    Primary source
    HGNC:HGNC:13554
    See related
    Ensembl:ENSG00000101974 MIM:300516; AllianceGenome:HGNC:13554
    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
    ATPIG; ATPIQ; HACXL
    Summary
    Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Involved in phospholipid translocation. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver (RPKM 9.4), urinary bladder (RPKM 5.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP11C in Genome Data Viewer
    Location:
    Xq27.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (139726348..139936903, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (138038281..138248842, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (138808507..139015212, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MCF.2 cell line derived transforming sequence Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21035 Neighboring gene Sharpr-MPRA regulatory region 14619 Neighboring gene brain cytoplasmic RNA 1, pseudogene 1 Neighboring gene RNA, U6atac small nuclear 23, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30005 Neighboring gene microRNA 505 Neighboring gene chromosome X open reading frame 66 Neighboring gene uncharacterized LOC728660

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia. van Dijk MJ, et al. Am J Hematol, 2023 Dec. PMID 37671681
    2. Impaired Hepatic Uptake by Organic Anion-Transporting Polypeptides Is Associated with Hyperbilirubinemia and Hypercholanemia in Atp11c Mutant Mice. Matsuzaka Y, et al. Mol Pharmacol, 2015 Dec. PMID 26399598
    3. ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. Arashiki N, et al. Haematologica, 2016 May. PMID 26944472, Free PMC Article
    4. ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking. Arashiki N, et al. Biochem Biophys Res Commun, 2019 Aug 27. PMID 31253392
    5. Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM. Nakanishi H, et al. Cell Rep, 2020 Sep 29. PMID 32997992

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
      Title: A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
    2. ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation.
      Title: ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation.
    3. Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.
      Title: Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.
    4. The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.
      Title: The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia.
    5. Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM.
      Title: Transport Cycle of Plasma Membrane Flippase ATP11C by Cryo-EM.
    6. Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes.
      Title: Reduction in flippase activity contributes to surface presentation of phosphatidylserine in human senescent erythrocytes.
    7. Crystal structure of a human plasma membrane phospholipid flippase.
      Title: Crystal structure of a human plasma membrane phospholipid flippase.
    8. The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
      Title: The cytoplasmic C-terminal region of the ATP11C variant determines its localization at the polarized plasma membrane.
    9. Data show that P4-ATPase flippase complex alpha subunit ATP11C (ATP11C) was absent in the patient's erythrocyte membranes.
      Title: ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.
    10. results indicated that the extracellular domain of CDC50A has important roles both in CDC50A's ability to chaperone ATP11C to the plasma membrane and in inducing ATP11C's ATP hydrolysis-coupled flippase activity.
      Title: The CDC50A extracellular domain is required for forming a functional complex with and chaperoning phospholipid flippases to the plasma membrane.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    X-linked congenital hemolytic anemia
    MedGen: C4746970 OMIM: 301015 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylethanolamine flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylserine flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 translocation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phospholipid translocation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    part_of phospholipid-translocating ATPase complex IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    phospholipid-transporting ATPase IG
    Names
    ATPase, class VI, type 11C
    P4-ATPase flippase complex alpha subunit ATP11C
    probable phospholipid-transporting ATPase IG
    NP_001010986.2
    NP_001340739.2
    NP_001340740.2
    NP_001340741.2
    NP_775965.3
    XP_016884938.1
    XP_047297972.1
    XP_047297973.1
    XP_047297974.1
    XP_047297975.1
    XP_047297976.1
    XP_047297977.1
    XP_047297978.1
    XP_047297979.1
    XP_047297980.1
    XP_047297981.1
    XP_047297982.1
    XP_047297983.1
    XP_047297984.1
    XP_047297985.1
    XP_047297986.1
    XP_054182860.1
    XP_054182861.1
    XP_054182862.1
    XP_054182863.1
    XP_054182864.1
    XP_054182865.1
    XP_054182866.1
    XP_054182867.1
    XP_054182868.1
    XP_054182869.1
    XP_054182870.1
    XP_054182871.1
    XP_054182872.1
    XP_054182873.1

    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.

    Genomic

    1. NG_016550.3 RefSeqGene

      Range
      8850..215555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001010986.3 → NP_001010986.2  phospholipid-transporting ATPase IG isoform b

      Status: VALIDATED

      Source sequence(s)
      AL161777, AL356785
      Consensus CDS
      CCDS35410.1
      UniProtKB/TrEMBL
      A0A067XG54
      Related
      ENSP00000355165.2, ENST00000361648.6
      Conserved Domains (2) summary
      cd02073
      Location:45 → 977
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
      pfam16212
      Location:865 → 1092
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

    2. NM_001353810.2 → NP_001340739.2  phospholipid-transporting ATPase IG isoform c

      Status: VALIDATED

      Source sequence(s)
      AL161777, AL356785, AL590077
      UniProtKB/TrEMBL
      A0A067XG54
      Related
      ENSP00000359588.1, ENST00000370557.5
      Conserved Domains (2) summary
      cd02073
      Location:42 → 974
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
      pfam16212
      Location:862 → 1089
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

    3. NM_001353811.2 → NP_001340740.2  phospholipid-transporting ATPase IG isoform d

      Status: VALIDATED

      Source sequence(s)
      AL161777, AL356785, AL590077
      UniProtKB/TrEMBL
      A0A067XG54
      Conserved Domains (2) summary
      cd02073
      Location:42 → 974
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
      pfam16212
      Location:862 → 1089
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

    4. NM_001353812.2 → NP_001340741.2  phospholipid-transporting ATPase IG isoform e

      Status: VALIDATED

      Source sequence(s)
      AL161777, AL356785, AL590077
      Consensus CDS
      CCDS94677.1
      UniProtKB/TrEMBL
      A0A067XG54, A0A804HIW2
      Related
      ENSP00000507250.1, ENST00000682941.1
      Conserved Domains (2) summary
      cd02073
      Location:42 → 974
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
      pfam16212
      Location:862 → 1089
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

    5. NM_173694.5 → NP_775965.3  phospholipid-transporting ATPase IG isoform a

      Status: VALIDATED

      Source sequence(s)
      AL161777, AL356785
      Consensus CDS
      CCDS14668.1
      UniProtKB/Swiss-Prot
      Q5JT69, Q5JT70, Q5JT71, Q5JT72, Q5JT73, Q6ZND5, Q6ZU50, Q6ZUP7, Q70IJ9, Q70IK0, Q8NB49, Q8WX24
      UniProtKB/TrEMBL
      A0A067XG54
      Related
      ENSP00000332756.3, ENST00000327569.7
      Conserved Domains (2) summary
      cd02073
      Location:45 → 977
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
      pfam16212
      Location:865 → 1092
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      139726348..139936903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442018.1 → XP_047297974.1  phospholipid-transporting ATPase IG isoform X3

      UniProtKB/TrEMBL
      A0A067XG54

    2. XM_047442024.1 → XP_047297980.1  phospholipid-transporting ATPase IG isoform X7

      UniProtKB/TrEMBL
      A0A067XG54

    3. XM_047442028.1 → XP_047297984.1  phospholipid-transporting ATPase IG isoform X11

      UniProtKB/TrEMBL
      A0A067XG54

    4. XM_047442027.1 → XP_047297983.1  phospholipid-transporting ATPase IG isoform X10

      UniProtKB/TrEMBL
      A0A067XG54

    5. XM_047442016.1 → XP_047297972.1  phospholipid-transporting ATPase IG isoform X1

      UniProtKB/TrEMBL
      A0A067XG54

    6. XM_047442021.1 → XP_047297977.1  phospholipid-transporting ATPase IG isoform X4

      UniProtKB/TrEMBL
      A0A067XG54, A0A804HIW2

    7. XM_017029449.2 → XP_016884938.1  phospholipid-transporting ATPase IG isoform X12

      Conserved Domains (4) summary
      pfam13246
      Location:203 → 307
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16212
      Location:597 → 824
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl14615
      Location:333 → 409
      PI-PLCc_GDPD_SF; Catalytic domain of phosphoinositide-specific phospholipase C-like phosphodiesterases superfamily
      cl21460
      Location:546 → 575
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    8. XM_047442020.1 → XP_047297976.1  phospholipid-transporting ATPase IG isoform X4

      UniProtKB/TrEMBL
      A0A067XG54, A0A804HIW2

    9. XM_047442029.1 → XP_047297985.1  phospholipid-transporting ATPase IG isoform X12

    10. XM_047442019.1 → XP_047297975.1  phospholipid-transporting ATPase IG isoform X4

      UniProtKB/TrEMBL
      A0A067XG54, A0A804HIW2

    11. XM_047442026.1 → XP_047297982.1  phospholipid-transporting ATPase IG isoform X9

      UniProtKB/TrEMBL
      A0A067XG54, H7C0E8
      Related
      ENSP00000394573.2, ENST00000422228.2

    12. XM_047442023.1 → XP_047297979.1  phospholipid-transporting ATPase IG isoform X6

      UniProtKB/TrEMBL
      A0A067XG54

    13. XM_047442025.1 → XP_047297981.1  phospholipid-transporting ATPase IG isoform X8

      UniProtKB/TrEMBL
      A0A067XG54

    14. XM_047442017.1 → XP_047297973.1  phospholipid-transporting ATPase IG isoform X2

      UniProtKB/TrEMBL
      A0A067XG54

    15. XM_047442022.1 → XP_047297978.1  phospholipid-transporting ATPase IG isoform X5

      UniProtKB/TrEMBL
      A0A067XG54

    16. XM_047442030.1 → XP_047297986.1  phospholipid-transporting ATPase IG isoform X13

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      138038281..138248842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326887.1 → XP_054182862.1  phospholipid-transporting ATPase IG isoform X3

      UniProtKB/TrEMBL
      A0A067XG54

    2. XM_054326892.1 → XP_054182867.1  phospholipid-transporting ATPase IG isoform X7

      UniProtKB/TrEMBL
      A0A067XG54

    3. XM_054326896.1 → XP_054182871.1  phospholipid-transporting ATPase IG isoform X11

      UniProtKB/TrEMBL
      A0A067XG54

    4. XM_054326891.1 → XP_054182866.1  phospholipid-transporting ATPase IG isoform X7

      UniProtKB/TrEMBL
      A0A067XG54

    5. XM_054326895.1 → XP_054182870.1  phospholipid-transporting ATPase IG isoform X10

      UniProtKB/TrEMBL
      A0A067XG54

    6. XM_054326885.1 → XP_054182860.1  phospholipid-transporting ATPase IG isoform X1

      UniProtKB/TrEMBL
      A0A067XG54

    7. XM_054326889.1 → XP_054182864.1  phospholipid-transporting ATPase IG isoform X4

      UniProtKB/TrEMBL
      A0A067XG54

    8. XM_054326897.1 → XP_054182872.1  phospholipid-transporting ATPase IG isoform X12

    9. XM_054326888.1 → XP_054182863.1  phospholipid-transporting ATPase IG isoform X4

      UniProtKB/TrEMBL
      A0A067XG54

    10. XM_054326894.1 → XP_054182869.1  phospholipid-transporting ATPase IG isoform X9

      UniProtKB/TrEMBL
      A0A067XG54

    11. XM_054326890.1 → XP_054182865.1  phospholipid-transporting ATPase IG isoform X6

      UniProtKB/TrEMBL
      A0A067XG54

    12. XM_054326893.1 → XP_054182868.1  phospholipid-transporting ATPase IG isoform X8

      UniProtKB/TrEMBL
      A0A067XG54

    13. XM_054326886.1 → XP_054182861.1  phospholipid-transporting ATPase IG isoform X2

      UniProtKB/TrEMBL
      A0A067XG54

    14. XM_054326898.1 → XP_054182873.1  phospholipid-transporting ATPase IG isoform X13

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NB49.3 GenPept UniProtKB/Swiss-Prot:Q8NB49

    Gene LinkOut

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

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