ATP2B4

ATP2B4
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1CFF, 2KNE
Identifikatori
Aliasi	ATP2B4
Vanjski ID-jevi	OMIM: 108732 MGI: 88111 HomoloGene: 48034 GeneCards: ATP2B4
Lokacija gena (čovjek) Hrom. Hromosom 1 (čovjek)[1] Bend 1q32.1 Početak 203,626,787 bp[1] Kraj 203,744,081 bp[1]
Lokacija gena (miš) Hrom. Hromosom 1 (miš)[2] Bend 1 E4|1 57.95 cM Početak 133,627,195 bp[2] Kraj 133,728,779 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • nucleotide binding • PDZ domain binding • sodium channel regulator activity • nitric-oxide synthase binding • scaffold protein binding • vezivanje iona metala • calmodulin binding • nitric-oxide synthase inhibitor activity • GO:0001948, GO:0016582 vezivanje za proteine • protein phosphatase 2B binding • ATP binding • hydrolase activity • P-type calcium transporter activity • protein kinase binding Ćelijska komponenta • integral component of membrane • projekcija ćelije • membrana • intracellular membrane-bounded organelle • T-tubule • ćelijska membrana • integral component of plasma membrane • sperm flagellum • sperm principal piece • basolateral plasma membrane • Z discdkac • Kaveole • neuron projection • Sarkolema • Treplja • motile cilium • GO:0009327 makromolekulani kompleks • glutamatergic synapse • integral component of presynaptic active zone membrane Biološki proces • negative regulation of nitric oxide mediated signal transduction • flagellated sperm motility • regulation of cardiac conduction • negative regulation of nitric-oxide synthase activity • negative regulation of calcineurin-NFAT signaling cascade • negative regulation of citrulline biosynthetic process • negative regulation of peptidyl-cysteine S-nitrosylation • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II • calcium ion import across plasma membrane • response to hydrostatic pressure • cellular calcium ion homeostasis • ion transport • positive regulation of peptidyl-serine phosphorylation • cellular response to epinephrine stimulus • ion transmembrane transport • negative regulation of nitric oxide biosynthetic process • calcium ion transmembrane transport • GO:0060401 calcium ion transmembrane import into cytosol • Spermatogeneza • positive regulation of cAMP-dependent protein kinase activity • regulation of cell cycle G1/S phase transition • regulation of sodium ion transmembrane transport • calcium ion export • hippocampus development • GO:0100045 negative regulation of arginine catabolic process • neural retina development • negative regulation of the force of heart contraction • calcium ion transport • negative regulation of cardiac muscle hypertrophy in response to stress • GO:0015915 transport • regulation of cytosolic calcium ion concentration • negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process • urinary bladder smooth muscle contraction • cellular response to acetylcholine Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	493	381290
Ensembl	ENSG00000058668	ENSMUSG00000026463
UniProt	P23634	Q6Q477
RefSeq (mRNK)	NM_001684 NM_001001396 NM_001365783 NM_001365784	NM_001167949 NM_213616
RefSeq (bjelančevina)	NP_001001396 NP_001675 NP_001352712 NP_001352713	NP_001161421 NP_998781
Lokacija (UCSC)	Chr 1: 203.63 – 203.74 Mb	Chr 1: 133.63 – 133.73 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Plazmamembranska kalcij-transportirajuća ATPaza 4 jest enzim koji je kod ljudi kodiran genom ATP2B4 sa hromosoma 1.^[5][6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.241 aminokiselina, a molekulska težina 137.920 Da.^[7]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MTNPSDRVLP		ANSMAESREG		DFGCTVMELR		KLMELRSRDA		LTQINVHYGG
VQNLCSRLKT		SPVEGLSGNP		ADLEKRRQVF		GHNVIPPKKP		KTFLELVWEA
LQDVTLIILE		IAAIISLVLS		FYRPAGEENE		LCGQVATTPE		DENEAQAGWI
EGAAILFSVI		IVVLVTAFND		WSKEKQFRGL		QCRIEQEQKF		SIIRNGQLIQ
LPVAEIVVGD		IAQVKYGDLL		PADGILIQGN		DLKIDESSLT		GESDHVKKSL
DKDPMLLSGT		HVMEGSGRMV		VTAVGVNSQT		GIILTLLGVN		EDDEGEKKKK
GKKQGVPENR		NKAKTQDGVA		LEIQPLNSQE		GIDNEEKDKK		AVKVPKKEKS
VLQGKLTRLA		VQIGKAGLLM		SALTVFILIL		YFVIDNFVIN		RRPWLPECTP
IYIQYFVKFF		IIGITVLVVA		VPEGLPLAVT		ISLAYSVKKM		MKDNNLVRHL
DACETMGNAT		AICSDKTGTL		TMNRMTVVQA		YIGGIHYRQI		PSPDVFLPKV
LDLIVNGISI		NSAYTSKILP		PEKEGGLPRQ		VGNKTECALL		GFVTDLKQDY
QAVRNEVPEE		KLYKVYTFNS		VRKSMSTVIR		NPNGGFRMYS		KGASEIILRK
CNRILDRKGE		AVPFKNKDRD		DMVRTVIEPM		ACDGLRTICI		AYRDFDDTEP
SWDNENEILT		ELTCIAVVGI		EDPVRPEVPD		AIAKCKQAGI		TVRMVTGDNI
NTARAIATKC		GILTPGDDFL		CLEGKEFNRL		IRNEKGEVEQ		EKLDKIWPKL
RVLARSSPTD		KHTLVKGIID		STVGEHRQVV		AVTGDGTNDG		PALKKADVGF
AMGIAGTDVA		KEASDIILTD		DNFTSIVKAV		MWGRNVYDSI		SKFLQFQLTV
NVVAVIVAFT		GACITQDSPL		KAVQMLWVNL		IMDTFASLAL		ATEPPTESLL
KRRPYGRNKP		LISRTMMKNI		LGHAFYQLIV		IFILVFAGEK		FFDIDSGRKA
PLHSPPSQHY		TIVFNTFVLM		QLFNEINSRK		IHGEKNVFSG		IYRNIIFCSV
VLGTFICQIF		IVEFGGKPFS		CTSLSLSQWL		WCLFIGIGEL		LWGQFISAIP
TRSLKFLKEA		GHGTTKEEIT		KDAEGLDEID		HAEMELRRGQ		ILWFRGLNRI
QTQIDVINTF		QTGASFKGVL		RRQNMGQHLD		VKLVPSSSYI		KVVKAFHSSL
HESIQKPYNQ		KSIHSFMTHP		EFAIEEELPR		TPLLDEEEEE		NPDKASKFGT
RVLLLDGEVT		PYANTNNNAV		DCNQVQLPQS		DSSLQSLETS		V

Funkcija

Protein kodiran ovim genom pripada familiji P-tipa primarnih transportnih iona ATPaza, koje karakterizira formiranje intermedijera aspartil-fosfata tokom reakcijskog ciklusa. Ovi enzimi uklanjaju dvovalentne ione kalcija iz eukariotskih ćelija protiv vrlo velikih gradijenata koncentracije i imaju ključnu ulogu u unutarćelijskoj homeostazi kalcija. Izoforme plazmamembranske kalcijske ATPaze sisara kodirane su sa najmanje četiri odvojena gena, a raznolikost ovih enzima je dodatno povećana alternativnom preradom transkripta. Ekspresija različitih izoformi i varijanti prerade regulirana je na način specifičan za razvoj, tkivo i tip sčelija, što sugerira da su ove pumpe funkcionalno prilagođene fiziološkim potrebama određenih ćelija i tkiva. Ovaj gen kodira izoformu 4 kalcijeve plazmamembranske ATPaze. Identificirane su alternativno prerađene varijante transkripta koje kodiraju različite izoforme.^[6]

Interakcije

Pokazalo se da ATP2B4 ima interakcije sa CASK.^[8]

Reference

1. GRCh38: Ensembl release 89: ENSG00000058668 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026463 - Ensembl, maj 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. Olson S, Wang MG, Carafoli E, Strehler EE, McBride OW (april 1991). "Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23". Genomics. 9 (4): 629–41. doi:10.1016/0888-7543(91)90356-J. PMID 1674727.
6. "Entrez Gene: ATP2B4 ATPase, Ca++ transporting, plasma membrane 4".
7. "UniProt, P23634" (jezik: en.). Pristupljeno 7. 12. 2021.
8. Schuh K, Uldrijan S, Gambaryan S, Roethlein N, Neyses L (mart 2003). "Interaction of the plasma membrane Ca2+ pump 4b/CI with the Ca2+/calmodulin-dependent membrane-associated kinase CASK". The Journal of Biological Chemistry. 278 (11): 9778–83. doi:10.1074/jbc.M212507200. PMID 12511555.

Dopunska literatura

• Møller JV, Juul B, le Maire M (maj 1996). "Structural organization, ion transport, and energy transduction of P-type ATPases". Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes. 1286 (1): 1–51. doi:10.1016/0304-4157(95)00017-8. PMID 8634322.
• Strehler EE, Zacharias DA (januar 2001). "Role of alternative splicing in generating isoform diversity among plasma membrane calcium pumps". Physiological Reviews. 81 (1): 21–50. doi:10.1152/physrev.2001.81.1.21. PMID 11152753.
• Strehler EE, Treiman M (maj 2004). "Calcium pumps of plasma membrane and cell interior". Current Molecular Medicine. 4 (3): 323–35. doi:10.2174/1566524043360735. PMID 15101689.
• Heim R, Hug M, Iwata T, Strehler EE, Carafoli E (april 1992). "Microdiversity of human-plasma-membrane calcium-pump isoform 2 generated by alternative RNA splicing in the N-terminal coding region". European Journal of Biochemistry. 205 (1): 333–40. doi:10.1111/j.1432-1033.1992.tb16784.x. PMID 1313367.
• Brandt P, Neve RL, Kammesheidt A, Rhoads RE, Vanaman TC (mart 1992). "Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels". The Journal of Biological Chemistry. 267 (7): 4376–85. doi:10.1016/S0021-9258(18)42846-3. PMID 1531651.
• Strehler EE, James P, Fischer R, Heim R, Vorherr T, Filoteo AG, Penniston JT, Carafoli E (februar 1990). "Peptide sequence analysis and molecular cloning reveal two calcium pump isoforms in the human erythrocyte membrane". The Journal of Biological Chemistry. 265 (5): 2835–42. doi:10.1016/S0021-9258(19)39877-1. PMID 2137451.
• James P, Maeda M, Fischer R, Verma AK, Krebs J, Penniston JT, Carafoli E (februar 1988). "Identification and primary structure of a calmodulin binding domain of the Ca2+ pump of human erythrocytes". The Journal of Biological Chemistry. 263 (6): 2905–10. doi:10.1016/S0021-9258(18)69154-9. PMID 2963820.
• Brandt P, Zurini M, Neve RL, Rhoads RE, Vanaman TC (maj 1988). "A C-terminal, calmodulin-like regulatory domain from the plasma membrane Ca2+-pumping ATPase". Proceedings of the National Academy of Sciences of the United States of America. 85 (9): 2914–8. Bibcode:1988PNAS...85.2914B. doi:10.1073/pnas.85.9.2914. PMC 280113. PMID 2966397.
• Howard A, Barley NF, Legon S, Walters JR (oktobar 1994). "Plasma-membrane calcium-pump isoforms in human and rat liver". The Biochemical Journal. 303 ( Pt 1) (Pt 1): 275–9. doi:10.1042/bj3030275. PMC 1137587. PMID 7945253.
• Stauffer TP, Hilfiker H, Carafoli E, Strehler EE (decembar 1994). "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes". The Journal of Biological Chemistry. 269 (50): 32022. doi:10.1016/S0021-9258(18)31797-6. PMID 7989379.
• Stauffer TP, Hilfiker H, Carafoli E, Strehler EE (decembar 1993). "Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes". The Journal of Biological Chemistry. 268 (34): 25993–6003. doi:10.1016/S0021-9258(19)74484-6. PMID 8245032.
• Váradi A, Molnár E, Ashcroft SJ (mart 1996). "A unique combination of plasma membrane Ca2+-ATPase isoforms is expressed in islets of Langerhans and pancreatic beta-cell lines". The Biochemical Journal. 314 ( Pt 2) (Pt 2): 663–9. doi:10.1042/bj3140663. PMC 1217098. PMID 8670083.
• Santiago-García J, Mas-Oliva J, Saavedra D, Zarain-Herzberg A (februar 1996). "Analysis of mRNA expression and cloning of a novel plasma membrane Ca(2+)-ATPase splice variant in human heart". Molecular and Cellular Biochemistry. 155 (2): 173–82. doi:10.1007/BF00229314. PMID 8700162. S2CID 33539531.
• Zacharias DA, DeMarco SJ, Strehler EE (april 1997). "mRNA expression of the four isoforms of the human plasma membrane Ca(2+)-ATPase in the human hippocampus". Brain Research. Molecular Brain Research. 45 (1): 173–6. doi:10.1016/S0169-328X(97)00009-0. PMID 9105688.
• Dean WL, Chen D, Brandt PC, Vanaman TC (juni 1997). "Regulation of platelet plasma membrane Ca2+-ATPase by cAMP-dependent and tyrosine phosphorylation". The Journal of Biological Chemistry. 272 (24): 15113–9. doi:10.1074/jbc.272.24.15113. PMID 9182531.
• Kim E, DeMarco SJ, Marfatia SM, Chishti AH, Sheng M, Strehler EE (januar 1998). "Plasma membrane Ca2+ ATPase isoform 4b binds to membrane-associated guanylate kinase (MAGUK) proteins via their PDZ (PSD-95/Dlg/ZO-1) domains". The Journal of Biological Chemistry. 273 (3): 1591–5. doi:10.1074/jbc.273.3.1591. PMID 9430700.
• Guerini D, García-Martin E, Gerber A, Volbracht C, Leist M, Merino CG, Carafoli E (januar 1999). "The expression of plasma membrane Ca2+ pump isoforms in cerebellar granule neurons is modulated by Ca2+". The Journal of Biological Chemistry. 274 (3): 1667–76. doi:10.1074/jbc.274.3.1667. PMID 9880546.
• Rosado JA, Sage SO (juni 2000). "Regulation of plasma membrane Ca2+-ATPase by small GTPases and phosphoinositides in human platelets". The Journal of Biological Chemistry. 275 (26): 19529–35. doi:10.1074/jbc.M001319200. PMID 10748016.

Vanjski linkovi

• Lokacija ljudskog genoma ATP2B2 i stranica sa detaljima o genu ATP2B2 u UCSC Genome Browseru.
• Lokacija ljudskog genoma ATP2B4 i stranica sa detaljima o genu ATP2B4 u UCSC Genome Browseru.

Šablon:ATPaze