Protein Description

Gene Symbol ATRX
Entrez ID 546
Uniprot ID P46100
Description alpha thalassemia/mental retardation syndrome X-linked
Chromosomal Location chrX: 77,504,878-77,786,269
Ontology GO ID GO Term Definition Evidence

BP

GO:0006281

DNA repair

The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.

IEA

BP

GO:0006306

DNA methylation

The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.

TAS

BP

GO:0006310

DNA recombination

Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.

TAS

BP

GO:0006334

nucleosome assembly

The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.

IDA

BP

GO:0006336

DNA replication-independent nucleosome assembly

The formation of nucleosomes outside the context of DNA replication.

IMP

BP

GO:0006338

chromatin remodeling

Dynamic structural changes to eukaryotic chromatin occurring throughout the cell division cycle. These changes range from the local changes necessary for transcriptional regulation to global changes necessary for chromosome segregation.

IDA

BP

GO:0006351

transcription, DNA-templated

The cellular synthesis of RNA on a template of DNA.

IEA

BP

GO:0006355

regulation of transcription, DNA-templated

Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

TAS

BP

GO:0007283

spermatogenesis

The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis.

IEA

BP

GO:0010571

positive regulation of nuclear cell cycle DNA replication

Any process that activates or increases the frequency, rate or extent of The DNA-dependent DNA replication that occurs in the nucleus of eukaryotic organisms as part of the cell cycle.

ISS

BP

GO:0016569

chromatin modification

The alteration of DNA or protein in chromatin by the covalent addition or removal of chemical groups.

IEA

BP

GO:0030330

DNA damage response, signal transduction by p53 class mediator

A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage.

ISS

BP

GO:0030900

forebrain development

The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).

IEA

BP

GO:0031297

replication fork processing

The process in which a DNA replication fork that has stalled is to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes.

ISS

BP

GO:0032206

positive regulation of telomere maintenance

Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA.

ISS

BP

GO:0032508

DNA duplex unwinding

The process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands.

IEA

BP

GO:0035128

post-embryonic forelimb morphogenesis

The process, occurring after embryonic development, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an organism.

IEA

BP

GO:0035264

multicellular organism growth

The increase in size or mass of an entire multicellular organism, as opposed to cell growth.

IEA

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IMP

BP

GO:0060009

Sertoli cell development

The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate.

IEA

BP

GO:0070198

protein localization to chromosome, telomeric region

Any process in which a protein is transported to, or maintained at, the telomeric region of a chromosome.

ISS

BP

GO:0072520

seminiferous tubule development

The reproductive developmental process whose specific outcome is the progression of the seminiferous tubule over time, from its formation to the mature structure. Seminiferous tubules are ducts located in the testicles, and are the specific location of meiosis, and the subsequent creation of gametes, namely spermatozoa.

IEA

BP

GO:0072711

cellular response to hydroxyurea

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroxyurea stimulus.

ISS

BP

GO:1900112

regulation of histone H3-K9 trimethylation

Any process that modulates the frequency, rate or extent of histone H3-K9 trimethylation.

IMP

BP

GO:1901581

negative regulation of telomeric RNA transcription from RNA pol II promoter

Any process that stops, prevents or reduces the frequency, rate or extent of telomeric RNA transcription from RNA pol II promoter.

ISS

BP

GO:1901582

positive regulation of telomeric RNA transcription from RNA pol II promoter

Any process that activates or increases the frequency, rate or extent of telomeric RNA transcription from RNA pol II promoter.

IMP

BP

GO:1904908

negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric

Any process that stops, prevents or reduces the frequency, rate or extent of maintenance of mitotic sister chromatid cohesion, telomeric.

IMP

CC

GO:0000784

nuclear chromosome, telomeric region

The terminal region of a linear nuclear chromosome that includes the telomeric DNA repeats and associated proteins.

ISS

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA

CC

GO:0005720

nuclear heterochromatin

A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin.

TAS

CC

GO:0005721

pericentric heterochromatin

Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by the modified histone H3K9me3.

ISS

CC

GO:0016605

PML body

A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

ISS

CC

GO:0031933

telomeric heterochromatin

Heterochromatic regions of the chromosome found at the telomeres.

ISS

CC

GO:0070603

SWI/SNF superfamily-type complex

A protein complex that contains an ortholog of the Saccharomyces ATPase Swi2/Snf2 as one of the core components and mediates assembly of nucleosomes, changes to the spacing or structure of nucleosomes, or some combination of those activities in a manner that requires ATP.

IDA

CC

GO:1990707

nuclear subtelomeric heterochromatin

Heterochromatic regions of the chromosome found at the subtelomeric regions of a chromosome in the nucleus.

IDA

MF

GO:0003677

DNA binding

Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

IEA

MF

GO:0003678

DNA helicase activity

Catalysis of the reaction: NTP + H2O = NDP + phosphate, to drive the unwinding of a DNA helix.

TAS

MF

GO:0003682

chromatin binding

Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

IDA

MF

GO:0004386

helicase activity

Catalysis of the reaction: NTP + H2O = NDP + phosphate, to drive the unwinding of a DNA or RNA helix.

TAS

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0005524

ATP binding

Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.

IEA

MF

GO:0015616

DNA translocase activity

Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive movement along a single- or double-stranded DNA molecule.

IDA

MF

GO:0035064

methylated histone binding

Interacting selectively and non-covalently with a histone protein in which a residue has been modified by methylation. Histones are any of a group of water-soluble proteins found in association with the DNA of plant and animal chromosomes.

IDA

MF

GO:0042393

histone binding

Interacting selectively and non-covalently with a histone, any of a group of water-soluble proteins found in association with the DNA of plant and animal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in nonspecific suppression of gene activity.

IDA

MF

GO:0046872

metal ion binding

Interacting selectively and non-covalently with any metal ion.

IEA

MF

GO:0070087

chromo shadow domain binding

Interacting selectively and non-covalently with a chromo shadow domain, a protein domain that is distantly related, and found in association with, the chromo domain.

IPI

Domain ID Description

IPR000330

SNF2-related, N-terminal domain

IPR001650

Helicase, C-terminal

IPR011011

Zinc finger, FYVE/PHD-type

IPR013083

Zinc finger, RING/FYVE/PHD-type

IPR014001

Helicase superfamily 1/2, ATP-binding domain

IPR025766

ADD domain

IPR027417

P-loop containing nucleoside triphosphate hydrolase

Pathway ID Pathway Term Pathway Source

WP3651

Pathways Affected in Adenoid Cystic Carcinoma

WikiPathways

UMLS CUI UMLS Term

C0010417

Cryptorchidism

C0010606

Adenoid Cystic Carcinoma

C0017638

Glioma

C0018273

Growth Disorders

C0027819

Neuroblastoma

C0030297

Pancreatic Neoplasm

C0030846

Penile Diseases

C0039978

Thoracic Diseases

C0206754

Neuroendocrine Tumors

C0376634

Craniofacial Abnormalities

C1136249

Mental Retardation, X-Linked

C3463824

Myelodysplastic Syndrome

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

bone marrow

hematopoietic cells

breast

adipocytes

breast

glandular cells

breast

myoepithelial cells

bronchus

respiratory epithelial cells

caudate

neuronal cells

cerebellum

cells in molecular layer

cerebral cortex

glial cells

colon

endothelial cells

colon

glandular cells

colon

peripheral nerve/ganglion

duodenum

glandular cells

epididymis

glandular cells

esophagus

squamous epithelial cells

fallopian tube

glandular cells

gallbladder

glandular cells

heart muscle

myocytes

hippocampus

neuronal cells

kidney

cells in glomeruli

kidney

cells in tubules

lung

macrophages

lung

pneumocytes

nasopharynx

respiratory epithelial cells

oral mucosa

squamous epithelial cells

ovary

ovarian stroma cells

pancreas

exocrine glandular cells

pancreas

islets of Langerhans

placenta

decidual cells

rectum

glandular cells

salivary gland

glandular cells

skeletal muscle

myocytes

skin

epidermal cells

small intestine

glandular cells

smooth muscle

smooth muscle cells

soft tissue

chondrocytes

soft tissue

fibroblasts

soft tissue

peripheral nerve

soft tissue

adipocytes

spleen

cells in red pulp

spleen

cells in white pulp

stomach

glandular cells

testis

Leydig cells

thyroid gland

glandular cells

tonsil

germinal center cells

tonsil

non-germinal center cells

tonsil

squamous epithelial cells

urinary bladder

urothelial cells

vagina

squamous epithelial cells

No databases found.

Pubmed ID Author Year Title

17148555

Wood et al.

2007

Molecular Abnormalities in Oocytes from Women with Polycystic Ovary Syndrome Revealed by Microarray Analysis

Gene Symbol Entrez ID Uniprot ID Score

PCNA

5111

P12004

0.52

HIST1H3A

8350

P68431

0.56

XRCC6

2547

P12956

0.63

HIST1H1C

3006

P16403

0.63

PRKDC

5591

P78527

0.63

PTPN4

5775

P29074

0.63

RAD1

5810

O60671

0.63

RAD9A

5883

Q99638

0.63

RPA1

6117

P27694

0.63

SSRP1

6749

Q08945

0.63

TP53

7157

P04637

0.63

WRN

7486

Q14191

0.63

XRCC5

7520

P13010

0.63

HIST1H2BL

8340

Q99880

0.63

HIST2H2BE

8349

Q16778

0.63

SUPT16H

11198

Q9Y5B9

0.63

LUC7L2

51631

Q9Y383

0.63

CCSER2

54462

Q9H7U1

0.63

CEP126

57562

Q9P2H0

0.63

HIST1H4A; HIST1H4B; HIST1H4C; HIST1H4D; HIST1H4E; HIST1H4F; HIST1H4H; HIST1H4I; HIST1H4J; HIST1H4K; HIST1H4L; HIST2H4A; HIST2H4B; HIST4H4

121504

P62805

0.63

HIST1H2AB; HIST1H2AE

3012

P04908

0.63

ZBED1

9189

O96006

0.68

SMC1A

8243

Q14683

0.72

PTN

5764

P21246

0.73

NBN

4683

O60934

0.82

HIST2H3A; HIST2H3C; HIST2H3D

126961

Q71DI3

0.82

MRE11A

4361

P49959

0.83

RAD50

10111

Q92878

0.83

H3F3A; H3F3B

3020

P84243

0.88

RAD51

5888

Q06609

0.90

ATN1

1822

P54259

0.52

HDAC1

3065

Q13547

0.52

NSD1

64324

Q96L73

0.52

CALM2

805

P62158

0.56

CALM3

808

P62158

0.56

NEK1

4750

Q96PY6

0.63

SUMO3

6612

P55854

0.63

SOD2

6648

P04179

0.63

SVIL

6840

O95425

0.63

TMPO

7112

P42166

0.63

TMPO

7112

P42167

0.63

SMC3

9126

Q9UQE7

0.63

HDAC4

9759

P56524

0.63

SNW1

22938

Q13573

0.63

ZNF512B

57473

Q96KM6

0.63

PYHIN1

149628

Q6K0P9

0.63

PML

5371

P29590

0.65

BLM

641

P54132

0.68

CNOT1

23019

A5YKK6

0.72

LRRK2

120892

Q5S007

0.72

EIF4A2

1974

Q14240

0.76

SUMO2

6613

P61956

0.79

H2AFY

9555

O75367

0.82

CBX5

23468

P45973

0.84

EZH2

2146

Q15910

0.89

DAXX

1616

Q9UER7

0.90