Idi na sadržaj

MEF2C

S Wikipedije, slobodne enciklopedije
MEF2C
Identifikatori
AliasiMEF2C
Vanjski ID-jeviOMIM: 600662 MGI: 99458 HomoloGene: 31087 GeneCards: MEF2C
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za MEF2C
Genomska lokacija za MEF2C
Bend5q14.3Početak88,717,117 bp[1]
Kraj88,904,257 bp[1]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001131005
NM_001193347
NM_001193348
NM_001193349
NM_001193350

NM_001308002
NM_002397
NM_001363581

NM_001170537
NM_025282

RefSeq (bjelančevina)
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

Lokacija (UCSC)Chr 5: 88.72 – 88.9 Mbn/a
PubMed pretraga[2][3]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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

[uredi | uredi izvor]

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

1020304050
MRLSLPLLLLLLGAWAIPGGLGDRAPLTATAPQLDDEEMYSAHMPAHLRC
DACRAVAYQMWQNLAKAETKLHTSNSGGRRELSELVYTDVLDRSCSRNWQ
DYGVREVDQVKRLTGPGLSEGPEPSISVMVTGGPWPTRLSRTCLHYLGEF
GEDQIYEAHQQGRGALEALLCGGPQGACSEKVSATREEL

Reference

[uredi | uredi izvor]
  1. ^ a b c 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.
  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
  6. ^ "UniProt, Q8WU39" (jezik: engleski). Pristupljeno 17. 10. 2021.

Dopunska literatura

[uredi | uredi izvor]