ATP11C

Protein-coding gene in humans
ATP11C
Identifiers
AliasesATP11C, ATPIG, ATPIQ, ATPase phospholipid transporting 11C, HACXL
External IDsOMIM: 300516; MGI: 1859661; HomoloGene: 27862; GeneCards: ATP11C; OMA:ATP11C - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for ATP11C
Genomic location for ATP11C
BandXq27.1Start139,726,346 bp[1]
End139,945,276 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for ATP11C
Genomic location for ATP11C
BandX|X A6Start59,268,650 bp[2]
End59,636,304 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • seminal vesicula

  • Achilles tendon

  • liver

  • parietal pleura

  • superficial temporal artery

  • visceral pleura

  • right lobe of liver

  • germinal epithelium

  • lymph node

  • pancreatic epithelial cell
Top expressed in
  • liver

  • secondary oocyte

  • ganglionic eminence

  • uterus

  • thymus

  • spermatid

  • ovary

  • mesencephalon

  • lens

  • cerebellar cortex
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • nucleotide binding
  • metal ion binding
  • protein binding
  • hydrolase activity
  • ATP binding
  • magnesium ion binding
  • ATPase-coupled intramembrane lipid transporter activity
Cellular component
  • integral component of membrane
  • recycling endosome
  • endoplasmic reticulum membrane
  • membrane
  • plasma membrane
  • lysosomal membrane
  • endoplasmic reticulum
  • trans-Golgi network
Biological process
  • pre-B cell differentiation
  • lipid transport
  • positive regulation of B cell differentiation
  • phospholipid transport
  • ion transmembrane transport
  • phospholipid translocation
  • transport
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

286410

320940

Ensembl

ENSG00000101974

ENSMUSG00000062949

UniProt

Q8NB49

Q9QZW0

RefSeq (mRNA)

NM_001010986
NM_173694
NM_001353810
NM_001353811
NM_001353812

NM_001001798
NM_001037863
NM_001359002

RefSeq (protein)

NP_001010986
NP_775965
NP_001340739
NP_001340740
NP_001340741

NP_001001798
NP_001032952
NP_001345931

Location (UCSC)Chr X: 139.73 – 139.95 MbChr X: 59.27 – 59.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ATP11C is an enzyme that in humans is encoded by the ATP11C gene.

Function

ATP11C encodes a member of the Type IV P-type ATPase family that is thought to transport or 'flip' aminophospholipids. The corresponding protein in mice is essential for the development of B cells and red blood cells,[5][6] and for the prevention of intrahepatic cholestasis.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101974 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062949 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Siggs OM, Arnold CN, Huber C, Pirie E, Xia Y, Lin P, Nemazee D, Beutler B (May 2011). "The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow". Nature Immunology. 12 (5): 434–40. doi:10.1038/ni.2012. PMC 3079768. PMID 21423172.
  6. ^ Yabas M, Teh CE, Frankenreiter S, Lal D, Roots CM, Whittle B, Andrews DT, Zhang Y, Teoh NC, Sprent J, Tze LE, Kucharska EM, Kofler J, Farell GC, Bröer S, Goodnow CC, Enders A (May 2011). "ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes". Nature Immunology. 12 (5): 441–9. doi:10.1038/ni.2011. PMC 3272780. PMID 21423173.
  7. ^ Siggs OM, Schnabl B, Webb B, Beutler B (May 2011). "X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C". Proceedings of the National Academy of Sciences of the United States of America. 108 (19): 7890–5. Bibcode:2011PNAS..108.7890S. doi:10.1073/pnas.1104631108. PMC 3093471. PMID 21518881.


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