Gene Symbol | ACTL6A |
Entrez ID | 86 |
Uniprot ID | O96019 |
Description | actin like 6A |
Chromosomal Location | chr3: 179,562,880-179,588,408 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0003407 |
neural retina development |
The progression of the neural retina over time from its initial formation to the mature structure. The neural retina is the part of the retina that contains neurons and photoreceptor cells. |
IEP |
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: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. |
IEA |
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. |
IC|IDA |
BP |
GO:0006351 |
transcription, DNA-templated |
The cellular synthesis of RNA on a template of DNA. |
IEA |
BP |
GO:0006357 |
regulation of transcription from RNA polymerase II promoter |
Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
NAS |
BP |
GO:0007165 |
signal transduction |
The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
TAS |
BP |
GO:0021510 |
spinal cord development |
The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. |
IEA |
BP |
GO:0040008 |
regulation of growth |
Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. |
IEA |
BP |
GO:0043044 |
ATP-dependent chromatin remodeling |
Dynamic structural changes to eukaryotic chromatin that require energy from the hydrolysis of ATP, ranging from local changes necessary for transcriptional regulation to global changes necessary for chromosome segregation, mediated by ATP-dependent chromatin-remodelling factors. |
IDA |
BP |
GO:0043967 |
histone H4 acetylation |
The modification of histone H4 by the addition of an acetyl group. |
IDA |
BP |
GO:0043968 |
histone H2A acetylation |
The modification of histone H2A by the addition of an acetyl group. |
IDA |
BP |
GO:1903146 |
regulation of mitophagy |
Any process that modulates the frequency, rate or extent of mitochondrion degradation (mitophagy). |
IMP |
BP |
GO:1903955 |
positive regulation of protein targeting to mitochondrion |
Any process that activates or increases the frequency, rate or extent of protein targeting to mitochondrion. |
IMP |
CC |
GO:0000790 |
nuclear chromatin |
The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome in the nucleus. |
IDA |
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:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0005886 |
plasma membrane |
The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
IDA |
CC |
GO:0016514 |
SWI/SNF complex |
A SWI/SNF-type complex that contains nine or more proteins, including both conserved (core) and nonconserved components; the Swi2/Snf2 ATPase is one of the core components. |
IDA |
CC |
GO:0031011 |
Ino80 complex |
A multisubunit protein complex that contains the Ino80p ATPase; exhibits chromatin remodeling activity and 3' to 5' DNA helicase activity. |
IDA |
CC |
GO:0035267 |
NuA4 histone acetyltransferase complex |
A complex having histone acetylase activity on chromatin, as well as ATPase, DNA helicase and structural DNA binding activities. The complex is thought to be involved in double-strand DNA break repair. Subunits of the human complex include HTATIP/TIP60, TRRAP, RUVBL1, BUVBL2, beta-actin and BAF53/ACTL6A. In yeast, the complex has 13 subunits, including the catalytic subunit Esa1 (homologous to human Tip60). |
IDA |
CC |
GO:0043234 |
protein complex |
A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical. |
IDA |
CC |
GO:0071564 |
npBAF complex |
A SWI/SNF-type complex that is found in neural stem or progenitor cells, and in human contains actin and proteins encoded by the ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A genes. The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. |
IDA|ISS |
MF |
GO:0000978 |
RNA polymerase II core promoter proximal region sequence-specific DNA binding |
Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II. |
IDA |
MF |
GO:0000980 |
RNA polymerase II distal enhancer sequence-specific DNA binding |
Interacting selectively and non-covalently with a RNA polymerase II (Pol II) distal enhancer. In mammalian cells, enhancers are distal sequences that increase the utilization of some promoters, and can function in either orientation and in any location (upstream or downstream) relative to the core promoter. |
IDA |
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. |
TAS |
MF |
GO:0003713 |
transcription coactivator activity |
Interacting selectively and non-covalently with a activating transcription factor and also with the basal transcription machinery in order to increase the frequency, rate or extent of transcription. Cofactors generally do not bind the template nucleic acid, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery. |
NAS |
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:0031492 |
nucleosomal DNA binding |
Interacting selectively and non-covalently with the DNA portion of a nucleosome. |
IDA |
Domain ID | Description |
---|---|
IPR004000 |
Actin family |
IPR004001 |
Actin, conserved site |
IPR029912 |
Actin-like protein 6A |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
WP2361 |
Gastric Cancer Network 1 |
WikiPathways |
WP3959 |
DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM |
WikiPathways |
h_vdrPathway |
Control of Gene Expression by Vitamin D Receptor |
BioCarta |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
appendix |
lymphoid tissue |
bone marrow |
hematopoietic cells |
breast |
adipocytes |
breast |
glandular cells |
breast |
myoepithelial cells |
bronchus |
respiratory epithelial cells |
caudate |
glial cells |
caudate |
neuronal cells |
cerebellum |
cells in granular layer |
cerebellum |
cells in molecular layer |
cerebellum |
Purkinje cells |
cerebral cortex |
glial cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
endothelial cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
cells in endometrial stroma |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
hippocampus |
glial cells |
kidney |
cells in tubules |
liver |
bile duct cells |
lung |
macrophages |
lung |
pneumocytes |
lymph node |
germinal center cells |
lymph node |
non-germinal center cells |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
ovary |
ovarian stroma cells |
pancreas |
exocrine glandular cells |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
prostate |
glandular cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
skeletal muscle |
myocytes |
skin |
fibroblasts |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
skin |
epidermal cells |
small intestine |
glandular cells |
smooth muscle |
smooth muscle cells |
soft tissue |
adipocytes |
soft tissue |
fibroblasts |
spleen |
cells in red pulp |
spleen |
cells in white pulp |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
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 |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
ARID1A |
8289 |
O14497 |
0.49 |
ARID1B |
57492 |
Q8NFD5 |
0.49 |
TBL1XR1 |
79718 |
Q9BZK7 |
0.49 |
KAT2A |
2648 |
Q92830 |
0.52 |
ARHGDIA |
396 |
P52565 |
0.63 |
CCT6A |
908 |
P40227 |
0.63 |
CYB5R3 |
1727 |
P00387 |
0.63 |
ETF1 |
2107 |
P62495 |
0.63 |
HDLBP |
3069 |
Q00341 |
0.63 |
HINT1 |
3094 |
P49773 |
0.63 |
PDCL |
5082 |
Q13371 |
0.63 |
MAP2K2 |
5605 |
P36507 |
0.63 |
TCP1 |
6950 |
P17987 |
0.63 |
CCT3 |
7203 |
P49368 |
0.63 |
SF1 |
7536 |
Q15637 |
0.63 |
USO1 |
8615 |
O60763 |
0.63 |
TSFM |
10102 |
P43897 |
0.63 |
SF3A1 |
10291 |
Q15459 |
0.63 |
CCT7 |
10574 |
Q99832 |
0.63 |
CCT4 |
10575 |
P50991 |
0.63 |
CCT2 |
10576 |
P78371 |
0.63 |
CCT6B |
10693 |
Q92526 |
0.63 |
SRCAP |
10847 |
Q6ZRS2 |
0.63 |
METAP2 |
10988 |
P50579 |
0.63 |
EPC2 |
26122 |
Q52LR7 |
0.63 |
RAB14 |
51552 |
P61106 |
0.63 |
RIC8B |
55188 |
Q9NVN3 |
0.63 |
PLSCR4 |
57088 |
Q9NRQ2 |
0.63 |
RPRD1B |
58490 |
Q9NQG5 |
0.63 |
ACTR6 |
64431 |
Q9GZN1 |
0.63 |
MEAF6 |
64769 |
Q9HAF1 |
0.63 |
DDRGK1 |
65992 |
Q96HY6 |
0.63 |
EPC1 |
80314 |
Q9H2F5 |
0.63 |
RAB1B |
81876 |
Q9H0U4 |
0.63 |
HDGFRP2 |
84717 |
Q7Z4V5 |
0.63 |
EAF1 |
85403 |
Q96JC9 |
0.63 |
MTDH |
92140 |
Q86UE4 |
0.63 |
RAP1BL |
643752 |
A6NIZ1 |
0.63 |
SMARCD2 |
6603 |
Q92925 |
0.68 |
BRD8 |
10902 |
Q9H0E9 |
0.77 |
MORF4L2 |
9643 |
Q15014 |
0.78 |
MORF4L1 |
10933 |
Q9UBU8 |
0.78 |
DMAP1 |
55929 |
Q9NPF5 |
0.78 |
PBRM1 |
55193 |
Q86U86 |
0.79 |
SMARCC2 |
6601 |
Q8TAQ2 |
0.80 |
SMARCD1 |
6602 |
Q96GM5 |
0.80 |
NFRKB |
4798 |
Q6P4R8 |
0.82 |
YEATS4 |
8089 |
O95619 |
0.82 |
TFPT |
29844 |
P0C1Z6 |
0.82 |
INO80C |
125476 |
Q6PI98 |
0.82 |
KAT5 |
10524 |
Q92993 |
0.84 |
INO80 |
54617 |
Q9ULG1 |
0.85 |
SMARCC1 |
6599 |
Q92922 |
0.86 |
TRRAP |
8295 |
Q9Y4A5 |
0.86 |
SMARCA2 |
6595 |
P51531 |
0.87 |
ACTR5 |
79913 |
Q9H9F9 |
0.87 |
MYC |
4609 |
P01106 |
0.88 |
SMARCA4 |
6597 |
P51532 |
0.89 |
SMARCD3 |
6604 |
Q6STE5 |
0.49 |
CDK2 |
1017 |
P24941 |
0.52 |
CDK9 |
1025 |
P50750 |
0.52 |
RELA |
5970 |
Q04206 |
0.52 |
POLR2A |
5430 |
P24928 |
0.55 |
BMI1 |
648 |
P35226 |
0.63 |
CDC5L |
988 |
Q99459 |
0.63 |
MAP3K8 |
1326 |
P41279 |
0.63 |
MAPK14 |
1432 |
Q16539 |
0.63 |
GRB2 |
2885 |
P62993 |
0.63 |
HDGF |
3068 |
P51858 |
0.63 |
JUN |
3725 |
P05412 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
DPF2 |
5977 |
Q92785 |
0.63 |
SHMT2 |
6472 |
P34897 |
0.63 |
SOX2 |
6657 |
P48431 |
0.63 |
SS18 |
6760 |
Q15532 |
0.63 |
TP53 |
7157 |
P04637 |
0.63 |
DPF3 |
8110 |
Q92784 |
0.63 |
HIST1H3A |
8350 |
P68431 |
0.63 |
CUL3 |
8452 |
Q13618 |
0.63 |
BANF1 |
8815 |
O75531 |
0.63 |
BCL7C |
9274 |
Q8WUZ0 |
0.63 |
ZRANB2 |
9406 |
O95218 |
0.63 |
KIAA0101 |
9768 |
Q15004 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
SNW1 |
22938 |
Q13573 |
0.63 |
FBXO6 |
26270 |
Q9NRD1 |
0.63 |
TRIM33 |
51592 |
Q9UPN9 |
0.63 |
STK26 |
51765 |
Q9P289 |
0.63 |
CAND1 |
55832 |
Q86VP6 |
0.63 |
SMARCAD1 |
56916 |
Q9H4L7 |
0.63 |
HECW2 |
57520 |
Q9P2P5 |
0.63 |
HIST1H2BA |
255626 |
Q96A08 |
0.63 |
GATS |
352954 |
Q8NAP1 |
0.63 |
HDAC2 |
3066 |
Q92769 |
0.72 |
ING1 |
3621 |
Q9UK53 |
0.72 |
ING2 |
3622 |
Q9H160 |
0.72 |
TCF4 |
6925 |
P15884 |
0.72 |
FOXN1 |
8456 |
O15353 |
0.72 |
BAZ1B |
9031 |
Q9UIG0 |
0.72 |
CBX5 |
23468 |
P45973 |
0.72 |
FOXR1 |
283150 |
Q6PIV2 |
0.72 |
KIF7 |
374654 |
Q2M1P5 |
0.72 |
FOXO6 |
100132074 |
A8MYZ6 |
0.72 |
EWSR1 |
2130 |
Q01844 |
0.73 |
H2AFZ |
3015 |
P0C0S5 |
0.73 |
SMARCB1 |
6598 |
Q12824 |
0.74 |
FLII |
2314 |
Q13045 |
0.75 |
VPS72 |
6944 |
Q15906 |
0.76 |
RELB |
5971 |
Q01201 |
0.78 |
MCRS1 |
10445 |
Q96EZ8 |
0.82 |
UCHL5 |
51377 |
Q9Y5K5 |
0.82 |
INO80D |
54891 |
Q53TQ3 |
0.82 |
INO80B |
83444 |
Q9C086 |
0.82 |
ACTR8 |
93973 |
Q9H981 |
0.82 |
EP400 |
57634 |
Q96L91 |
0.84 |
SMARCE1 |
6605 |
Q969G3 |
0.86 |
YY1 |
7528 |
P25490 |
0.86 |
ZNHIT1 |
10467 |
O43257 |
0.86 |
ING3 |
54556 |
Q9NXR8 |
0.87 |
INO80E |
283899 |
Q8NBZ0 |
0.87 |
MRGBP |
55257 |
Q9NV56 |
0.88 |
RUVBL1 |
8607 |
Q9Y265 |
0.89 |
RUVBL2 |
10856 |
Q9Y230 |
0.89 |