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

Gene ID: 286410, updated on 3-Nov-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, Nov 2024]
Expression
Ubiquitous expression in liver (RPKM 9.4), urinary bladder (RPKM 5.9) and 24 other tissues See more
Orthologs
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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: 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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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
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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

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

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

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

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

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

    UniProtKB/TrEMBL
    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
    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
    A0A804HIW2

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

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

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

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

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

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

  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

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

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

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

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

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

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

  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

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

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

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

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

  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

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