MEF2C

MEF2C
Identifikatori
Aliasi	MEF2C
Vanjski ID-jevi	OMIM: 600662 MGI: 99458 HomoloGene: 31087 GeneCards: MEF2C
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	88,904,257 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• protein dimerization activity; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • histone deacetylase binding; • GO:0000983 RNA polymerase II general transcription initiation factor activity; • core promoter sequence-specific DNA binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • HMG box domain binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • minor groove of adenine-thymine-rich DNA binding; • chromatin binding; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje sa DNK; • sequence-specific DNA binding; • protein heterodimerization activity; • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Ćelijska komponenta	• jedro; • nuclear speck; • intracellular membrane-bounded organelle; • nukleoplazma; • citoplazma; • postsynapse; • sarcoplasm; • GO:0009327 makromolekulani kompleks;
Biološki proces	• GO:1904089 negative regulation of neuron apoptotic process; • embryonic skeletal system morphogenesis; • myotube differentiation; • positive regulation of skeletal muscle tissue development; • cell morphogenesis involved in neuron differentiation; • positive regulation of muscle cell differentiation; • regulation of synapse assembly; • muscle organ development; • outflow tract morphogenesis; • monocyte differentiation; • sinoatrial valve morphogenesis; • negative regulation of ossification; • heart looping; • positive regulation of skeletal muscle cell differentiation; • blood vessel remodeling; • blood vessel development; • positive regulation of cardiac muscle cell proliferation; • humoral immune response; • positive regulation of alkaline phosphatase activity; • negative regulation of epithelial cell proliferation; • regulation of synaptic transmission, glutamatergic; • melanocyte differentiation; • GO:0097285 apoptoza; • B cell receptor signaling pathway; • cellular response to calcium ion; • cellular response to transforming growth factor beta stimulus; • renal tubule morphogenesis; • nephron tubule epithelial cell differentiation; • cell fate commitment; • cardiac ventricle formation; • GO:0009373 regulation of transcription, DNA-templated; • cardiac muscle cell differentiation; • regulation of neuron apoptotic process; • platelet formation; • neuron development; • smooth muscle cell differentiation; • positive regulation of protein homodimerization activity; • negative regulation of gene expression; • transcription, DNA-templated; • cellular response to trichostatin A; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • heart development; • epithelial cell proliferation involved in renal tubule morphogenesis; • cardiac muscle hypertrophy in response to stress; • positive regulation of B cell proliferation; • positive regulation of neuron differentiation; • excitatory postsynaptic potential; • learning or memory; • positive regulation of macrophage apoptotic process; • positive regulation of cardiac muscle cell differentiation; • cellular response to parathyroid hormone stimulus; • primary heart field specification; • secondary heart field specification; • regulation of dendritic spine development; • regulation of germinal center formation; • roof of mouth development; • Ćelijska diferencijacija; • chondrocyte differentiation; • positive regulation of bone mineralization; • neural crest cell differentiation; • neuron migration; • B cell homeostasis; • GO:1901227 negative regulation of transcription by RNA polymerase II; • endochondral ossification; • regulation of neurotransmitter secretion; • cellular response to fluid shear stress; • nervous system development; • regulation of synaptic plasticity; • regulation of NMDA receptor activity; • muscle cell fate determination; • positive regulation of osteoblast differentiation; • regulation of synaptic activity; • osteoblast differentiation; • neuron differentiation; • regulation of sarcomere organization; • skeletal muscle cell differentiation; • positive regulation of behavioral fear response; • glomerulus morphogenesis; • germinal center formation; • positive regulation of cell proliferation in bone marrow; • MAPK cascade; • regulation of AMPA receptor activity; • multicellular organism development; • B cell proliferation; • GO:1901313 positive regulation of gene expression; • positive regulation of myoblast differentiation; • cartilage morphogenesis; • embryonic viscerocranium morphogenesis; • ventricular cardiac muscle cell differentiation; • cellular response to lipopolysaccharide; • skeletal muscle tissue development; • regulation of megakaryocyte differentiation; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • transcription by RNA polymerase II; • negative regulation of blood vessel endothelial cell migration; • negative regulation of vascular associated smooth muscle cell proliferation; • negative regulation of vascular associated smooth muscle cell migration; • negative regulation of vascular endothelial cell proliferation;
	Izvori:Amigo / QuickGO
Ortolozi
	4208
	17260
	ENSG00000081189
	ENSMUSG00000005583
	Q06413
	Q8CFN5
NM_001131005; NM_001193347; NM_001193348; NM_001193349; NM_001193350;
	NM_001308002; NM_002397; NM_001363581
	NM_001170537; NM_025282
NP_001124477; NP_001180276; NP_001180277; NP_001180278; NP_001180279;
	NP_001294931; NP_002388; NP_001350510; NP_001351258; NP_001351259; NP_001351260; NP_001351261; NP_001351262; NP_001351263; NP_001351264; NP_001351265; NP_001351266; NP_001351267; NP_001351268; NP_001351269; NP_001351270; NP_001351271; NP_001351272; NP_001351273; NP_001351274; NP_001351275; NP_001351276; NP_001351277; NP_001351278; NP_001351279; NP_001351281; NP_001351282; NP_001351283; NP_001351284; NP_001351285; NP_001351286; NP_001294931.1
NP_001164008; NP_001334493; NP_001334495; NP_001334496; NP_001334497;
	NP_001334498; NP_001334500; NP_001334501; NP_001334502; NP_001334503; NP_001334504; NP_001334505; NP_001334506; NP_001334507; NP_001334508; NP_001334509; NP_001334510; NP_079558
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Ćelijskospecifični protein marginalnih zona B i B1 jest protein koji je kod ljudi kodiran genom MZB1 sa hromosoma 5.^[4]

Savijanje proteina koji sadrže disulfidnu vezu u endoplazmatskom retikulumu (ER) složen je proces koji zahtijeva faktore nabiranja proteina, od kojih su neki specifični za proteine. ER rezidentni sapozinoliki protein pERp1 (MZB1, CNPY5) ključan je za pravilno savijanje IgA, IgM i integrina. pERp1 također ima ulogu u ER homeostazi kalcija u ER i pokretljivosti plazmatskih ćelija.

Kao važan faktor za pravilno sazrijevanje IgM-a, a time i imunsku funkciju, pERp1 je pojačano reguliran u mnogim autoimunskim bolestima. To ga čini potencijalnom terapijskom metom. pERp1 pripada porodici CNPY proteina sličnih ER sapozinima. Do sada je identificirano pet ovih proteina. Svi su uključeni u savijanje proteina i svi sadrže domen sličan sapozinu. Svi prethodno strukturno okarakterizirani sapozini uključeni su u vezivanje lipida. Međutim, nema izvještaja o interakciji članova porodice CNPY s lipidima, što ukazuje na novu funkciju sapozinskog nabora. Međutim, molekulski mehanizmi njihove funkcije ostaju nedostižni. Do danas nije prijavljena struktura proteina CNPY. U jednom radu iz 2021. Predstavljena je kristalna struktura ljudske pERp1 visoke rezolucije (1,4 Å) i potvrđeno da ona ima sapozinski nabor s jedinstvenim strukturnim elementima koji nisu prisutni u drugim sapozinskim strukturama. Raspravljano je o implikacijama uloge proteina CNPY u savijanju proteina u ER.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 189 aminokiselina, а molekulska težina 20.694 Da.^[6]

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
MRLSLPLLLL	LLGAWAIPGG	LGDRAPLTAT	APQLDDEEMY	SAHMPAHLRC
DACRAVAYQM	WQNLAKAETK	LHTSNSGGRR	ELSELVYTDV	LDRSCSRNWQ
DYGVREVDQV	KRLTGPGLSE	GPEPSISVMV	TGGPWPTRLS	RTCLHYLGEF
GEDQIYEAHQ	QGRGALEALL	CGGPQGACSE	KVSATREEL

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000081189 - Ensembl, maj 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.
^ "Entrez Gene: Marginal zone B and B1 cell-specific protein".
^ Sven T Sowa, Antti Moilanen, Ekaterina Biterova, Mirva J Saaranen, Lari Lehtiö, Lloyd W Ruddock (2021): High-resolution Crystal Structure of Human pERp1, A Saposin-like Protein Involved in IgA, IgM and Integrin Maturation in the Endoplasmic Reticulum. J Mol Biol, 433(5):166826; pmid: 33453188; doi: 10.1016/j.jmb.2021.166826
^ "UniProt, Q8WU39" (jezik: engleski). Pristupljeno 17. 10. 2021.

Dopunska literatura

Zhang H, Chen S, Huang L (maj 2012). "[Proteomics-based identification of proapoptotic caspase adapter protein as a novel serum marker of non-small cell lung cancer]". Zhongguo Fei AI Za Zhi = Chinese Journal of Lung Cancer. 15 (5): 287–93. doi:10.3779/j.issn.1009-3419.2012.05.07. PMC 6000130. PMID 22613335.
Vaudry D, Rousselle C, Basille M, Falluel-Morel A, Pamantung TF, Fontaine M, Fournier A, Vaudry H, Gonzalez BJ (april 2002). "Pituitary adenylate cyclase-activating polypeptide protects rat cerebellar granule neurons against ethanol-induced apoptotic cell death". Proceedings of the National Academy of Sciences of the United States of America. 99 (9): 6398–403. Bibcode:2002PNAS...99.6398V. doi:10.1073/pnas.082112699. PMC 122960. PMID 11972030.
Bonfoco E, Li E, Kolbinger F, Cooper NR (august 2001). "Characterization of a novel proapoptotic caspase-2- and caspase-9-binding protein". The Journal of Biological Chemistry. 276 (31): 29242–50. doi:10.1074/jbc.M100684200. PMID 11350957.
Katoh M, Katoh M (juli 2003). "MGC29506 gene, frequently down-regulated in intestinal-type gastric cancer, encodes secreted-type protein with conserved cysteine residues". International Journal of Oncology. 23 (1): 235–41. PMID 12792799.
Zhang H, Chen X, Sairam MR (septembar 2011). "Novel hormone-regulated genes in visceral adipose tissue: cloning and identification of proinflammatory cytokine-like mouse and human MEDA-7: implications for obesity, insulin resistance and the metabolic syndrome". Diabetologia. 54 (9): 2368–80. doi:10.1007/s00125-011-2212-7. PMID 21688198.
Flach H, Rosenbaum M, Duchniewicz M, Kim S, Zhang SL, Cahalan MD, Mittler G, Grosschedl R (novembar 2010). "Mzb1 protein regulates calcium homeostasis, antibody secretion, and integrin activation in innate-like B cells". Immunity. 33 (5): 723–35. doi:10.1016/j.immuni.2010.11.013. PMC 3125521. PMID 21093319.
Shimizu Y, Meunier L, Hendershot LM (oktobar 2009). "pERp1 is significantly up-regulated during plasma cell differentiation and contributes to the oxidative folding of immunoglobulin". Proceedings of the National Academy of Sciences of the United States of America. 106 (40): 17013–8. Bibcode:2009PNAS..10617013S. doi:10.1073/pnas.0811591106. PMC 2761359. PMID 19805157.
van Anken E, Pena F, Hafkemeijer N, Christis C, Romijn EP, Grauschopf U, Oorschot VM, Pertel T, Engels S, Ora A, Lástun V, Glockshuber R, Klumperman J, Heck AJ, Luban J, Braakman I (oktobar 2009). "Efficient IgM assembly and secretion require the plasma cell induced endoplasmic reticulum protein pERp1". Proceedings of the National Academy of Sciences of the United States of America. 106 (40): 17019–24. Bibcode:2009PNAS..10617019V. doi:10.1073/pnas.0903036106. PMC 2761347. PMID 19805154.
Matsumura S, Imoto I, Kozaki K, Matsui T, Muramatsu T, Furuta M, Tanaka S, Sakamoto M, Arii S, Inazawa J (juli 2012). "Integrative array-based approach identifies MZB1 as a frequently methylated putative tumor suppressor in hepatocellular carcinoma". Clinical Cancer Research. 18 (13): 3541–51. doi:10.1158/1078-0432.CCR-11-1007. PMID 22573353.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000081189 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: Marginal zone B and B1 cell-specific protein".

[5] Sven T Sowa, Antti Moilanen, Ekaterina Biterova, Mirva J Saaranen, Lari Lehtiö, Lloyd W Ruddock (2021): High-resolution Crystal Structure of Human pERp1, A Saposin-like Protein Involved in IgA, IgM and Integrin Maturation in the Endoplasmic Reticulum. J Mol Biol, 433(5):166826; pmid: 33453188; doi: 10.1016/j.jmb.2021.166826

[UniProt-6] "UniProt, Q8WU39" (jezik: engleski). Pristupljeno 17. 10. 2021.

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