Aliases for ATP11C Gene

Aliases for ATP11C Gene

  • ATPase Phospholipid Transporting 11C 2 3 5
  • ATPIG 2 3 4
  • ATPIQ 2 3 4
  • P4-ATPase Flippase Complex Alpha Subunit ATP11C 3 4
  • Phospholipid-Transporting ATPase IG 3 4
  • ATPase, Class VI, Type 11C 2 3
  • Probable Phospholipid-Transporting ATPase IG 3
  • ATPase Class VI Type 11C 4
  • EC 3.6.3.1 51
  • EC 7.6.2.1 4
  • ATPase IQ 4
  • EC 3.6.3 51
  • ATP11C 5
  • HACXL 3

External Ids for ATP11C Gene

Previous GeneCards Identifiers for ATP11C Gene

  • GC0XU990324
  • GC0XM137514
  • GC0XM138534
  • GC0XM138636
  • GC0XM138808
  • GC0XM128075

Summaries for ATP11C Gene

GeneCards Summary for ATP11C Gene

ATP11C (ATPase Phospholipid Transporting 11C) is a Protein Coding gene. Diseases associated with ATP11C include Hemolytic Anemia, Congenital, X-Linked and Congenital Hemolytic Anemia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP11A.

UniProtKB/Swiss-Prot Summary for ATP11C Gene

  • Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. In the cell membrane of erythrocytes, it is required to maintain phosphatidylserine (PS) in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for splenic macrophages (PubMed:26944472). Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Required for B cell differentiation past the pro-B cell stage (By similarity). Seems to mediate PS flipping in pro-B cells (By similarity). May be involved in the transport of cholestatic bile acids (By similarity).

Additional gene information for ATP11C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP11C Gene

Genomics for ATP11C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP11C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ139831 Promoter/Enhancer 1 EPDnew Ensembl 600.1 +113.0 112975 4.2 PRDM10 ZNF629 IKZF2 ZBTB44 ELK4 TCF7L2 ZXDB RUNX3 OVOL3 ZNF335 ATP11C piR-57133-657 lnc-CXorf66-4 MCF2
GH0XJ140710 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.3 -766.5 -766504 4.4 PRDM10 ZNF692 RFX1 POLR2A PATZ1 ZNF341 JUND BHLHE40 OSR2 USF1 LINC00632 ATP11C CDR1 lnc-SPANXB1-7 lnc-CDR1-3 SOX3
GH0XJ139930 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 10 +13.1 13058 4.8 PRDM10 ZNF629 REST SIX5 POLR2A LARP7 PRDM1 ZNF143 ZIC2 RBFOX2 ATP11C RF00017-8767 MIR505 MCF2
GH0XJ140057 Enhancer 0.8 Ensembl ENCODE 9.8 -111.9 -111867 0.5 CTCF PRDM10 ZNF692 RAD21 TRIM22 ZNF561 ZNF444 SMC3 ZBTB17 YY1 ATP11C lnc-CXorf66-3 RN7SL727P RF00017-8769 lnc-F9-5 LOC389895 CXorf66
GH0XJ139972 Enhancer 0.5 ENCODE 12.7 -28.5 -28549 2.1 SP1 JUND HNF4A RXRA HLF ATP11C CXorf66 LOC728660 LOC389895
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP11C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP11C

Top Transcription factor binding sites by QIAGEN in the ATP11C gene promoter:
  • E47
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-6
  • Nkx2-2
  • Nkx2-5
  • Nkx6-1
  • S8
  • Tal-1

Genomic Locations for ATP11C Gene

Genomic Locations for ATP11C Gene
chrX:139,726,346-139,945,276
(GRCh38/hg38)
Size:
218,931 bases
Orientation:
Minus strand
chrX:138,808,505-139,027,435
(GRCh37/hg19)
Size:
218,931 bases
Orientation:
Minus strand

Genomic View for ATP11C Gene

Genes around ATP11C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP11C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP11C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP11C Gene

Proteins for ATP11C Gene

  • Protein details for ATP11C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NB49-AT11C_HUMAN
    Recommended name:
    Phospholipid-transporting ATPase IG
    Protein Accession:
    Q8NB49
    Secondary Accessions:
    • Q5JT69
    • Q5JT70
    • Q5JT71
    • Q5JT72
    • Q5JT73
    • Q6ZND5
    • Q6ZU50
    • Q6ZUP7
    • Q70IJ9
    • Q70IK0
    • Q8WX24

    Protein attributes for ATP11C Gene

    Size:
    1132 amino acids
    Molecular mass:
    129477 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). Interacts with beta subunit TMEM30A.
    SequenceCaution:
    • Sequence=BAC03692.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86172.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC86377.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD18440.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP11C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP11C Gene

Selected DME Specific Peptides for ATP11C Gene

Q8NB49:
  • KSQKRSAVEKS
  • IGDGANDVSMI
  • WVLTGDK
  • DKTGTLT
  • LNEELGQV
  • TAVEDKLQ
  • GKEGRQA
  • LFEQFRR
  • PQFLYQF
  • GNWTFGT
  • DTPTSPVTSGLPLFFVITVTAIKQGYED

Post-translational modifications for ATP11C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP11C Gene

Gene Families for ATP11C Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for ATP11C Gene

GenScript: Design optimal peptide antigens:
  • ATPase class VI type 11C (AT11C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NB49

UniProtKB/Swiss-Prot:

AT11C_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP11C: view

Function for ATP11C Gene

Molecular function for ATP11C Gene

UniProtKB/Swiss-Prot Function:
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. In the cell membrane of erythrocytes, it is required to maintain phosphatidylserine (PS) in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for splenic macrophages (PubMed:26944472). Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Required for B cell differentiation past the pro-B cell stage (By similarity). Seems to mediate PS flipping in pro-B cells (By similarity). May be involved in the transport of cholestatic bile acids (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1;.

Enzyme Numbers (IUBMB) for ATP11C Gene

Gene Ontology (GO) - Molecular Function for ATP11C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 21914794
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP11C: view
genes like me logo Genes that share phenotypes with ATP11C: view

Human Phenotype Ontology for ATP11C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP11C

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP11C Gene

Localization for ATP11C Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP11C Gene

Cell membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A. Some cell membrane localization observed in the presence of TMEM30B.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP11C gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
endosome 4
lysosome 4
golgi apparatus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ATP11C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane HDA 17897319
GO:0005783 endoplasmic reticulum IBA,IDA 21914794
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005802 trans-Golgi network IBA 21873635
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ATP11C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP11C Gene

Pathways & Interactions for ATP11C Gene

genes like me logo Genes that share pathways with ATP11C: view

Pathways by source for ATP11C Gene

Gene Ontology (GO) - Biological Process for ATP11C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002329 pre-B cell differentiation IEA --
GO:0006869 lipid transport IEA --
GO:0015914 phospholipid transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0045332 phospholipid translocation IEA,NAS 21914794
genes like me logo Genes that share ontologies with ATP11C: view

No data available for SIGNOR curated interactions for ATP11C Gene

Drugs & Compounds for ATP11C Gene

(3) Drugs for ATP11C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
PE(16:0/16:0) Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(401) Additional Compounds for ATP11C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
PA(16:0/16:0)
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1N7)
  • PA(16:0/18:1W7)
PA(16:0/18:1(9Z))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
genes like me logo Genes that share compounds with ATP11C: view

Transcripts for ATP11C Gene

mRNA/cDNA for ATP11C Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP11C

Alternative Splicing Database (ASD) splice patterns (SP) for ATP11C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6: -
SP7:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7: - -

Relevant External Links for ATP11C Gene

GeneLoc Exon Structure for
ATP11C

Expression for ATP11C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP11C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP11C Gene

This gene is overexpressed in Serum (40.2) and Testis (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP11C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP11C

SOURCE GeneReport for Unigene cluster for ATP11C Gene:

Hs.88252

mRNA Expression by UniProt/SwissProt for ATP11C Gene:

Q8NB49-AT11C_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ATP11C Gene

  • Liver(4.5)
  • Nervous system(4.4)
  • Spleen(2)
genes like me logo Genes that share expression patterns with ATP11C: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP11C Gene

Orthologs for ATP11C Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP11C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP11C 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP11C 30 31
  • 93.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP11C 30 31
  • 91.93 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp11c 30 17 31
  • 91.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp11c 30
  • 91.22 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ATP11C 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP11C 30 31
  • 76.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP11C 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498300 30
  • 73.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia atp11a-prov 30
Zebrafish
(Danio rerio)
Actinopterygii atp11c 30 31
  • 66.55 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG9981 31
  • 35 (a)
ManyToMany
CG4301 31
  • 30 (a)
ManyToMany
Species where no ortholog for ATP11C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ATP11C Gene

ENSEMBL:
Gene Tree for ATP11C (if available)
TreeFam:
Gene Tree for ATP11C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP11C: view image

Paralogs for ATP11C Gene

(11) SIMAP similar genes for ATP11C Gene using alignment to 3 proteins:

  • AT11C_HUMAN
  • H7C0E8_HUMAN
  • H7C113_HUMAN
genes like me logo Genes that share paralogs with ATP11C: view

Variants for ATP11C Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP11C Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
718891 Benign: not provided 139,814,899(-) T/C SYNONYMOUS_VARIANT
726013 Benign: not provided 139,763,425(-) A/T INTRON_VARIANT
747221 Benign: not provided 139,788,281(-) G/A SYNONYMOUS_VARIANT
783916 Benign: not provided 139,745,781(-) C/T MISSENSE_VARIANT
796987 Likely Benign: not provided 139,802,337(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP11C Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP11C Gene

Variant ID Type Subtype PubMed ID
esv3574799 CNV loss 25503493
esv3577426 CNV gain 25503493
nsv7116 CNV deletion 18451855

Variation tolerance for ATP11C Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP11C Gene

Human Gene Mutation Database (HGMD)
ATP11C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP11C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP11C Gene

Disorders for ATP11C Gene

MalaCards: The human disease database

(11) MalaCards diseases for ATP11C Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia, congenital, x-linked
  • x-linked congenital hemolytic anemia
congenital hemolytic anemia
  • congenital hemolytic anaemia
cholestasis, benign recurrent intrahepatic, 1
  • bric1
hemolytic anemia
  • anemia hemolytic
hypoparathyroidism, x-linked
  • hypx
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AT11C_HUMAN
  • Hemolytic anemia, congenital, X-linked (HAXL) [MIM:301015]: An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal. {ECO:0000269 PubMed:26944472}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with ATP11C: view

No data available for Genatlas for ATP11C Gene

Publications for ATP11C Gene

  1. ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. (PMID: 26944472) Arashiki N … Kanno H (Haematologica 2016) 3 4
  2. Human Type IV P-type ATPases That Work as Plasma Membrane Phospholipid Flippases and Their Regulation by Caspase and Calcium. (PMID: 26567335) Segawa K … Nagata S (The Journal of biological chemistry 2016) 2 3
  3. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PMID: 21914794) Takatsu H … Shin HW (The Journal of biological chemistry 2011) 3 4
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ATP11C Gene

Sources for ATP11C Gene