Protein Description

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

No diseases found.

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

No databases found.

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