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Descriptor English: X-linked Nuclear Protein
Descriptor Spanish: Proteína Nuclear Ligada al Cromosoma X
Descriptor proteína nuclear ligada al cromosoma X
Entry term(s) proteína ATRX
proteína homóloga de RAD54
Scope note: ADN helicasa dependiente de ATP que contiene dos DEDOS DE ZINC N-terminales y dominios de unión a ATP y helicasa C-terminales. Interviene en la regulación de la transcripción génica y en el ENSAMBLE Y DESENSAMBLE DE CROMATINA. La proteína ATRX experimenta una fosforilación dependiente del ciclo celular, lo que produce su translocación desde la MATRIZ NUCLEAR a la CROMATINA; de esta forma cambia su función, de la regulación génica durante la INTERFASE a asegurar la adecuada segregación cromosómica en la MITOSIS. Las mutaciones del gen ATRX se asocian al RETRASO MENTAL LIGADO AL CROMOSOMA X asociado con la TALASEMIA ALFA (síndrome ATRX).
Descriptor Portuguese: Proteína Nuclear Ligada ao X
Descriptor French: Protéine nucléaire liée à l'X
Entry term(s): ATRX Protein
Homolog Protein, RAD54
Nuclear Protein, X-linked
RAD54 Homolog Protein
X linked Nuclear Protein
Tree number(s): D08.811.399.340.375
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000075924
Scope note: ATP-dependent DNA helicase that contains two N-terminal ZINC FINGERS and C-terminal ATP-binding and helicase domains. It functions in the regulation of gene transcription and CHROMATIN REMODELING. ATRX undergoes cell-cycle dependent phosphorylation, which causes it to translocate from the NUCLEAR MATRIX to CHROMATIN; thus, it may change its role from gene regulation during INTERPHASE to ensuring proper chromosome segregation at MITOSIS. Mutations in the ATRX gene are associated with cases of X-LINKED MENTAL RETARDATION co-morbid with ALPHA-THALASSEMIA (ATRX syndrome).
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Registry Number: EC 3.6.4.12
Previous Indexing: DNA Helicases (1995-2017)
Nuclear Proteins (1995-2017)
Public MeSH Note: 2018
History Note: 2018
Related: PHD Zinc Fingers MeSH
DeCS ID: 57010
Unique ID: D000075924
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2018/01/01
Date of Entry: 2017/07/11
Revision Date: 2017/06/29
X-linked Nuclear Protein - Preferred
Concept UI M000631684
Scope note ATP-dependent DNA helicase that contains two N-terminal ZINC FINGERS and C-terminal ATP-binding and helicase domains. It functions in the regulation of gene transcription and CHROMATIN REMODELING. ATRX undergoes cell-cycle dependent phosphorylation, which causes it to translocate from the NUCLEAR MATRIX to CHROMATIN; thus, it may change its role from gene regulation during INTERPHASE to ensuring proper chromosome segregation at MITOSIS. Mutations in the ATRX gene are associated with cases of X-LINKED MENTAL RETARDATION co-morbid with ALPHA-THALASSEMIA (ATRX syndrome).
Preferred term X-linked Nuclear Protein
Entry term(s) ATRX Protein
Homolog Protein, RAD54
Nuclear Protein, X-linked
RAD54 Homolog Protein
X linked Nuclear Protein



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