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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP11C Gene

protein-coding   GIFtS: 54
GCID: GC0XM138808

ATPase, Class VI, Type 11C

(Previous names: ATPase, Class VI, type 11C)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Class VI, Type 11C1 2     Probable Phospholipid-Transporting ATPase IG2
ATPIG2 3     ATPase Class VI Type 11C3
ATPIQ2 3     ATPase IQ3
EC 3.6.3.13 8     EC 3.6.38
Phospholipid-Transporting ATPase IG2     

External Ids:    HGNC: 135541   Entrez Gene: 2864102   Ensembl: ENSG000001019747   OMIM: 3005165   UniProtKB: Q8NB493   

Export aliases for ATP11C gene to outside databases

Previous GC identifers: GC0XU990324 GC0XM137514 GC0XM138534 GC0XM138636 GC0XM128075


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ATP11C Gene: 
ATP11C (ATPase, class VI, type 11C) is a protein-coding gene. Diseases associated with ATP11C include hypoparathyroidism, and among its related super-pathways are Ion channel transport and SLC-mediated transmembrane transport. GO annotations related to this gene include phospholipid-translocating ATPase activity and magnesium ion binding. An important paralog of this gene is ATP11A.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP11C gene promoter:
         Tal-1   Nkx2-2   Nkx2-5   E47   Evi-1   S8   Nkx6-1   GATA-6   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP11C promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP11C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP11C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq27.1   Ensembl cytogenetic band:  Xq27.1   HGNC cytogenetic band: Xq27.1

ATP11C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP11C gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM138808:  view genomic region     (about GC identifiers)

Start:
138,808,505 bp from pter      End:
139,027,435 bp from pter
Size:
218,931 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT11C_HUMAN, Q8NB49 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase IG  
Size: 1132 amino acids; 129477 Da
Subunit: Interacts with TMEM30A, but not with TMEM30B
Subcellular location: 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
Sequence caution: Sequence=BAC03692.1; Type=Erroneous initiation; Sequence=BAC86172.1; Type=Erroneous initiation;
Sequence=BAC86377.1; Type=Erroneous initiation; Sequence=BAD18440.1; Type=Erroneous initiation;
Sequence=CAI39713.1; Type=Erroneous gene model prediction; Sequence=CAI39714.1; Type=Erroneous gene model
prediction; Sequence=CAI39716.1; Type=Erroneous gene model prediction; Sequence=CAI40418.1; Type=Erroneous gene
model prediction; Sequence=CAI41444.1; Type=Erroneous gene model prediction; Sequence=CAI41445.1; Type=Erroneous
gene model prediction; Sequence=CAI41446.1; Type=Erroneous gene model prediction; Sequence=CAI41447.1;
Type=Erroneous gene model prediction;
Secondary accessions: Q5JT69 Q5JT70 Q5JT71 Q5JT72 Q5JT73 Q6ZND5 Q6ZU50 Q6ZUP7 Q70IJ9 Q70IK0
Q8WX24
Alternative splicing: 4 isoforms:  Q8NB49-1   Q8NB49-2   Q8NB49-3   Q8NB49-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP11C: NX_Q8NB49

Explore proteomics data for ATP11C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NB49

  • 4/11 DME Specific Peptides for ATP11C (Q8NB49) (see all 11)
     GNWTFGT  LFEQFRR  DKTGTLT  PQFLYQF 

    ATP11C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP11C Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001010986.1  NP_775965.2  

    ENSEMBL proteins: 
     ENSP00000359588   ENSP00000397923   ENSP00000332756   ENSP00000355165   ENSP00000391259  
     ENSP00000394573   ENSP00000359574   ENSP00000352715  
    Reactome Protein details: Q8NB49
    Human Recombinant Protein Products for ATP11C: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATP11C 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    ATP11C for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for ATP11C 
    Cloud-Clone Corp. CLIAs for ATP11C


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP11C 
    Phospholipid-transporting ATPase

    5/6 InterPro protein domains (see all 6):
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase

    Graphical View of Domain Structure for InterPro Entry Q8NB49

    ProtoNet protein and cluster: Q8NB49

    1 Blocks protein domain: IPB001757 ATPase

    UniProtKB/Swiss-Prot: AT11C_HUMAN, Q8NB49
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    ATP11C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT11C_HUMAN, Q8NB49
    Catalytic activity: ATP + H(2)O + phospholipid(side 1) = ADP + phosphate + phospholipid(side 2)

         Enzyme Numbers (IUBMB): EC 3.6.3.11 2 EC 3.6.32

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    ATP11C for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Atp11c):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  normal 
     tumorigenesis 

    ATP11C for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP11C 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP11C 
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    miRNA
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    miRTarBase miRNAs that target ATP11C:
    hsa-mir-210 (MIRT003182)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP11C
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP11C (see all 43):
    hsa-miR-429 hsa-miR-507 hsa-miR-9 hsa-miR-23a hsa-miR-200b hsa-miR-181b hsa-miR-3163 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidATP11C 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP11C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ATP11C
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases



    ATP11C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP11C

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ATP11C (ENSP000003327564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0015914phospholipid transport ----
    GO:0034220ion transmembrane transport TAS--
    GO:0045332phospholipid translocation NAS--
    GO:0055085transmembrane transport TAS--

    ATP11C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATP11C (AT11C)

    10/2605 HMDB Compounds for ATP11C (see all 2605)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----

    Search CenterWatch for drugs/clinical trials and news about ATP11C / AT11C

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP11C gene (2 alternative transcripts): 
    NM_001010986.2  NM_173694.4  

    Unigene Cluster for ATP11C:

    ATPase, class VI, type 11C
    Hs.88252  [show with all ESTs]
    Unigene Representative Sequence: NM_173694
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370557 ENST00000433868 ENST00000327569(uc004fay.3 uc004faz.3)
    ENST00000361648(uc004fax.3 uc004fba.3) ENST00000450801 ENST00000460773
    ENST00000471746 ENST00000422228 ENST00000485626 ENST00000370543 ENST00000359686

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    Additional mRNA sequence: 

    AJ580093.1 AJ580094.1 AK091552.1 AK093835.1 AK125474.1 AK131262.1 BC132728.1 BC132730.1 
    BX648320.1 BX648981.1 D16467.1 

    9 DOTS entries:

    DT.70101598  DT.97833893  DT.40284797  DT.100725310  DT.100685872  DT.70103245  DT.91696872  DT.92058622 
    DT.91670631 

    24/87 AceView cDNA sequences (see all 87):

    AJ580093 AW160525 AI371849 CA448156 AI762074 CA495286 BQ722735 AA827105 
    AX747055 AJ580094 AK131262 AK091552 BM053049 NM_173694 CD643015 AW162137 
    AA829385 AA906534 BM904860 C02380 AI493553 AI284141 BE612490 D16467 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATP11C (see all 7)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for ATP11C

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP11C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP11C Expression
    About this image


    See ATP11C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP11C

    SOURCE GeneReport for Unigene cluster: Hs.88252

    UniProtKB/Swiss-Prot: AT11C_HUMAN, Q8NB49
    Tissue specificity: Widely expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP11C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATP11C gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp11c1 , 5 ATPase, class VI, type 11C1, 5 91.09(n)1
    94.58(a)1
      X (33.50 cM)5
    3209401  NM_001001798.21  NP_001001798.11 
     602232905 
    chicken
    (Gallus gallus)
    Aves ATP11C1 ATPase, class VI, type 11C 76.91(n)
    83.54(a)
      422254  XM_420240.3  XP_420240.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP11C6
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL343842.1(116438-187807)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp11a-prov2 ATPase, Class VI, type 11A 76.45(n)    BC053328.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570433712   -- 76.54(n)    57043371 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99816
    CG43016
    --
    35(a)
    30(a)
    many ↔ many
    many ↔ many
    X(16293815-16299155)
    X(16299728-16308436)


    ENSEMBL Gene Tree for ATP11C (if available)
    TreeFam Gene Tree for ATP11C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP11C gene
    ATP11A2  ATP8A12  ATP11B2  ATP8A22  ATP8B42  ATP8B22  
    11 SIMAP similar genes for ATP11C using alignment to 3 protein entries:     AT11C_HUMAN (see all proteins):
    ATP11A    DKFZp434P0831    ATP11B    DKFZp779H1459    ATP8B4    ATP8A1
    ATP8B1    ATP8B2    ATP8A2    ATP8B3    ATP9A

    ATP11C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1304 SNPs in ATP11C are shown (see all 1304)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365024
    A colorectal cancer sample4--see VAR_0365022 Q P mis40--------
    VAR_0365014
    A colorectal cancer sample4--see VAR_0365012 T I mis40--------
    VAR_0218274
    ----see VAR_0218272 C W mis40--------
    rs1925188461,2
    --138765492(+) ACAAAA/GTAGAC 2 -- int10--------
    rs1832570561,2
    --138765501(+) ACTTTC/TAATAT 2 -- int10--------
    rs21497821,2
    C,F,H--138765513(+) TATTTG/ACTGAT 2 -- int118Minor allele frequency- A:0.03NA EA NS WA CSA 1345
    rs1887195621,2
    --138765591(+) CCTCCC/TCAAAT 2 -- int10--------
    rs1484320951,2
    --138765658(+) AATTGC/TGCAGG 2 -- int10--------
    rs1926065961,2
    --138766000(+) AAATTC/TCATCA 2 -- ut310--------
    rs1425396771,2
    --138766207(+) TTTCCC/TTTTCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP11C (138808505 - 139027435 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP11C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7116CNV Loss18451855


    Locus Specific Mutation Databases (LSDB): ATP11C
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP11C
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP11C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300516    OMIM disorders: --

    2 diseases for ATP11C:    About MalaCards
    hypoparathyroidism    


    ATP11C for disorders           About GeneDecksing


    Export disorders for ATP11C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP11C gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with ATP11C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PubMed id 21914794)1, 2 Takatsu H.... Shin H.W. (2011)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    3. X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase. (PubMed id 15533723)1, 2 Andrew-Nesbit M....Thakker R.V. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Differential expression of putative transbilayer amphipath transporters. (PubMed id 11015572)1, 3 Halleck M.S.... Schlegel R.A. (1999)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 286410 HGNC: 13554 AceView: ATP11C Ensembl:ENSG00000101974 euGenes: HUgn286410
    ECgene: ATP11C H-InvDB: ATP11C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP11C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP11C gene:
    Search GeneIP for patents involving ATP11C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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