ATP11C

ATP11C

Identifiers

ATP11C, ATPIG, ATPIQ, ATPase phospholipid transporting 11C, HACXL

External IDs

OMIM: 300516 MGI: 1859661 HomoloGene: 27862 GeneCards: ATP11C

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	Xq27.1	Start	139,726,346 bp^[1]
Band	Xq27.1	End	139,945,276 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	X\|X A6	Start	59,268,650 bp^[2]
Band	X\|X A6	End	59,636,304 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (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

mirror

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

Species

Human

Mouse

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 Mb

Chr X: 59.27 – 59.64 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

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Transcription

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101974 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000062949 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ 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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This page was last edited on 29 July 2023, at 12:59

From Wikipedia, the free encyclopedia

YouTube Encyclopedic

Transcription

Function

References