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 |
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 |