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ATP2C1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

ATP2C1

Identifiers

Aliases

ATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1

External IDs

OMIM:604384;MGI:1889008;HomoloGene:56672;GeneCards:ATP2C1;OMA:ATP2C1 - orthologs

Gene location (Human)

Chr.	Chromosome 3 (human)^[1]

Band	3q22.1	Start	130,850,595bp^[1]
Band	3q22.1	End	131,016,712bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	9\|9 F1	Start	105,280,738bp^[2]
Band	9\|9 F1	End	105,404,518bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

secondary oocyte

ventricular zone

stromal cell of endometrium

endothelial cell

epithelium of colon

islet of Langerhans

C1 segment

ganglionic eminence

Epithelium of choroid plexus

Achilles tendon

Top expressed in

secondary oocyte

zygote

granulocyte

neural layer of retina

seminal vesicula

dentate gyrus of hippocampal formation granule cell

primary oocyte

tail of embryo

otic placode

primary visual cortex

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	nucleotide binding calcium ion binding manganese ion binding P-type calcium transporter activity signal transducer activity metal ion binding ABC-type manganese transporter activity hydrolase activity ATP binding
Cellular component	integral component of membrane Golgi apparatus membrane Golgi membrane trans-Golgi network
Biological process	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules actin cytoskeleton reorganization cellular calcium ion homeostasis Golgi calcium ion homeostasis ion transport ion transmembrane transport epidermis development positive regulation of I-kappaB kinase/NF-kappaB signaling cellular manganese ion homeostasis manganese ion transport Golgi calcium ion transport calcium ion transport manganese ion transmembrane transport signal transduction calcium ion transmembrane transport transport
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


27032


235574

Ensembl


ENSG00000017260


ENSMUSG00000032570

UniProt


P98194


Q80XR2

RefSeq (mRNA)

NM_001001485 NM_001001486 NM_001001487 NM_001199179 NM_001199180
NM_001199181 NM_001199182 NM_001199183 NM_001199184 NM_001199185 NM_014382 NM_001378511 NM_001378512 NM_001378513 NM_001378514 NM_001378687

NM_001253831 NM_001253834 NM_001253836 NM_175025 NM_001359822
NM_001359823

RefSeq (protein)

NP_001001485 NP_001001486 NP_001001487 NP_001186108 NP_001186109
NP_001186110 NP_001186111 NP_001186112 NP_001186113 NP_001186114 NP_055197 NP_001365440 NP_001365441 NP_001365442 NP_001365443 NP_001365616

NP_001240760 NP_001240763 NP_001240765 NP_778190 NP_001346751
NP_001346752

Location (UCSC)

Chr 3: 130.85 – 131.02 Mb

Chr 9: 105.28 – 105.4 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Calcium-transporting ATPase type 2C member 1 is anenzyme that in humans is encoded by theATP2C1gene.^[5]^[6]^[7]

This gene encodes one of theSPCA proteins, a Ca²⁺ ion-transportingP-type ATPase. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene causeHailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.^[7]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000017260 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000032570 –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.
^Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. (January 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease".Nature Genetics.24 (1):61–65.doi:10.1038/71701.PMID 10615129.S2CID 41274246.
^Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, et al. (April 2000)."Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump".Human Molecular Genetics.9 (7):1131–1140.doi:10.1093/hmg/9.7.1131.PMID 10767338.
^^a ^b"Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1".

External links

[edit]

HumanATP2C1 genome location andATP2C1 gene details page in theUCSC Genome Browser.

Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, et al. (October 2004). "SPCA1 pumps and Hailey-Hailey disease".Biochemical and Biophysical Research Communications.322 (4):1204–1213.doi:10.1016/j.bbrc.2004.07.128.PMID 15336968.
Ikeda S, Welsh EA, Peluso AM, Leyden W, Duvic M, Woodley DT, Epstein EH (July 1994). "Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q".Human Molecular Genetics.3 (7):1147–1150.doi:10.1093/hmg/3.7.1147.PMID 7981684.
Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000)."Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro".DNA Research.7 (1):65–73.doi:10.1093/dnares/7.1.65.PMID 10718198.
Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, et al. (January 2001)."Characterization of 16 novel human genes showing high similarity to yeast sequences".Yeast.18 (1):69–80.doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H.PMID 11124703.S2CID 21397515.
Ton VK, Mandal D, Vahadji C, Rao R (February 2002)."Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease".The Journal of Biological Chemistry.277 (8):6422–6427.doi:10.1074/jbc.M110612200.PMID 11741891.
Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, et al. (February 2002)."Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene".The Journal of Investigative Dermatology.118 (2):338–343.doi:10.1046/j.0022-202x.2001.01675.x.PMID 11841554.
Yokota K, Yasukawa K, Shimizu H (March 2002)."Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease".The Journal of Investigative Dermatology.118 (3):550–551.doi:10.1046/j.0022-202x.2001.01686.x.PMID 11874499.
Chao SC, Tsai YM, Yang MH (April 2002). "Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease".The British Journal of Dermatology.146 (4):595–600.doi:10.1046/j.1365-2133.2002.04697.x.PMID 11966689.S2CID 73336691.
Fairclough RJ, Dode L, Vanoevelen J, Andersen JP, Missiaen L, Raeymaekers L, et al. (July 2003)."Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)".The Journal of Biological Chemistry.278 (27):24721–24730.doi:10.1074/jbc.M300509200.PMID 12707275.
Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, et al. (May 2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways".Oncogene.22 (21):3307–3318.doi:10.1038/sj.onc.1206406.PMID 12761501.S2CID 38880905.
Van Baelen K, Vanoevelen J, Callewaert G, Parys JB, De Smedt H, Raeymaekers L, et al. (June 2003). "The contribution of the SPCA1 Ca2+ pump to the Ca2+ accumulation in the Golgi apparatus of HeLa cells assessed via RNA-mediated interference".Biochemical and Biophysical Research Communications.306 (2):430–436.doi:10.1016/S0006-291X(03)00977-X.PMID 12804581.
Callewaert G, Parys JB, De Smedt H, Raeymaekers L, Wuytack F, Vanoevelen J, et al. (August 2003). "Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathway Ca(2+)-ATPase SPCA1".Cell Calcium.34 (2):157–162.doi:10.1016/S0143-4160(03)00070-8.PMID 12810057.
Aronchik I, Behne MJ, Leypoldt L, Crumrine D, Epstein E, Ikeda S, et al. (October 2003)."Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes".The Journal of Investigative Dermatology.121 (4):681–687.doi:10.1046/j.1523-1747.2003.12472.x.PMID 14632182.
Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, et al. (October 2003)."Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores".The Journal of Investigative Dermatology.121 (4):688–694.doi:10.1046/j.1523-1747.2003.12528.x.PMID 14632183.
Mitchell KJ, Tsuboi T, Rutter GA (February 2004)."Role for plasma membrane-related Ca2+-ATPase-1 (ATP2C1) in pancreatic beta-cell Ca2+ homeostasis revealed by RNA silencing".Diabetes.53 (2):393–400.doi:10.2337/diabetes.53.2.393.PMID 14747290.
Fairclough RJ, Lonie L, Van Baelen K, Haftek M, Munro CS, Burge SM, Hovnanian A (July 2004)."Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels".The Journal of Investigative Dermatology.123 (1):67–71.doi:10.1111/j.0022-202X.2004.22713.x.PMID 15191544.

Hydrolases:acid anhydride hydrolases (EC 3.6)

3.6.1

3.6.2

3.6.3-4:ATPase

3.6.3

Cu++ (3.6.3.4)	Menkes/ATP7A Wilson/ATP7B
Ca+ (3.6.3.8)	SERCA ATP2A1 ATP2A2 ATP2A3 Plasma membrane ATP2B1 ATP2B2 ATP2B3 ATP2B4 SPCA ATP2C1 ATP2C2
Na+/K+ (3.6.3.9)	ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP1B4
H+/K+ (3.6.3.10)	ATP4A
OtherP-type ATPase	ATP8B1 ATP10A ATP11B ATP12A ATP13A2 ATP13A3

3.6.4

3.6.5:GTPase

3.6.5.1:Heterotrimeric G protein	G_αs G_olf G_αi GNAI1 GNAI2 GNAI3 Transducin GNAT1 GNAT2 Gustducin GNAT3 G_αq/11 GNAQ GNA11 G_α12/13 GNA12 GNA13
3.6.5.2:Small GTPase >Ras superfamily	Rho family of GTPases:Cdc42 CDC42 TC10 TCL RhoUV RhoU RhoV Rac Rac1 2 3 RhoG RhoBTB 1 2 RhoH Rho A B C Rnd 1 2 3 RhoDF RhoF RhoD other:Ras HRAS KRAS NRAS Rab RAB23 RAB27 Arf ARF6 SAR1B ARL13B ARL6 Ran Rheb Rap RGK
3.6.5.3:Protein-synthesizing GTPase	Prokaryotic IF-2 EF-Tu EF-G Eukaryotic
3.6.5.5-6:Polymerization motors	dynamin superfamily Dynamin Guanylate-binding protein Mitofusin-1 MX1 andMX2 OPA1 Tubulin

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