Protein Description

Gene Symbol ACTN1
Entrez ID 87
Uniprot ID P12814
Description actinin, alpha 1
Chromosomal Location chr14: 68,874,143-68,979,440
Ontology GO ID GO Term Definition Evidence

BP

GO:0002576

platelet degranulation

The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet.

TAS

BP

GO:0007015

actin filament organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.

IMP

BP

GO:0030220

platelet formation

The process in which platelets bud from long processes extended by megakaryocytes.

IMP

BP

GO:0036344

platelet morphogenesis

Generation and organization of a platelet, a non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.

IMP

BP

GO:0042981

regulation of apoptotic process

Any process that modulates the occurrence or rate of cell death by apoptotic process.

NAS

BP

GO:0048041

focal adhesion assembly

The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.

IMP

BP

GO:0051017

actin filament bundle assembly

The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.

IEA

BP

GO:0051271

negative regulation of cellular component movement

Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component.

IMP

BP

GO:0051639

actin filament network formation

The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments.

IMP

BP

GO:0051764

actin crosslink formation

The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes.

IEA

BP

GO:1903506

regulation of nucleic acid-templated transcription

Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription.

IEA

CC

GO:0001725

stress fiber

A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.

IDA

CC

GO:0001726

ruffle

Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.

IDA

CC

GO:0005576

extracellular region

The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

TAS

CC

GO:0005615

extracellular space

That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

IDA

CC

GO:0005622

intracellular

The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm.

IDA

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IDA

CC

GO:0005829

cytosol

The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

TAS

CC

GO:0005884

actin filament

A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.

IDA

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.

IEA

CC

GO:0005903

brush border

The dense covering of microvilli on the apical surface of a epithelial cells in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.

IEA

CC

GO:0005911

cell-cell junction

A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic junctions such as ring canals.

IDA

CC

GO:0005916

fascia adherens

A cell-cell adherens junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighboring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes.

IEA

CC

GO:0005925

focal adhesion

Small region on the surface of a cell that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments.

IDA|IMP

CC

GO:0030018

Z disc

Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

IEA

CC

GO:0031093

platelet alpha granule lumen

The volume enclosed by the membrane of the platelet alpha granule.

TAS

CC

GO:0031143

pseudopodium

A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding.

TAS

CC

GO:0042995

cell projection

A prolongation or process extending from a cell, e.g. a flagellum or axon.

IDA

CC

GO:0070062

extracellular exosome

A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

IDA

MF

GO:0003725

double-stranded RNA binding

Interacting selectively and non-covalently with double-stranded RNA.

IDA

MF

GO:0005178

integrin binding

Interacting selectively and non-covalently with an integrin.

IDA|IPI

MF

GO:0005509

calcium ion binding

Interacting selectively and non-covalently with calcium ions (Ca2+).

IEA

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:0017166

vinculin binding

Interacting selectively and non-covalently with vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane.

IDA|IPI

MF

GO:0030374

ligand-dependent nuclear receptor transcription coactivator activity

The function of a transcription cofactor that activates transcription in conjuction with a ligand-dependent nuclear receptor from a RNA polymerase II promoter; does not bind DNA itself.

IDA

MF

GO:0042803

protein homodimerization activity

Interacting selectively and non-covalently with an identical protein to form a homodimer.

IDA

MF

GO:0044325

ion channel binding

Interacting selectively and non-covalently with one or more specific sites on an ion channel, a protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient.

IPI

MF

GO:0051015

actin filament binding

Interacting selectively and non-covalently with an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.

IDA

Domain ID Description

IPR001589

Actinin-type actin-binding domain, conserved site

IPR001715

Calponin homology domain

IPR002017

Spectrin repeat

IPR002048

EF-hand domain

IPR011992

EF-hand domain pair

IPR014837

EF-hand, Ca insensitive

IPR018159

Spectrin/alpha-actinin

IPR018247

EF-Hand 1, calcium-binding site

IPR026921

Alpha-actinin 1

Pathway ID Pathway Term Pathway Source

hsa04510

Focal adhesion

KEGG

hsa04520

Adherens junction

KEGG

hsa04530

Tight junction

KEGG

hsa04670

Leukocyte transendothelial migration

KEGG

hsa04810

Regulation of actin cytoskeleton

KEGG

hsa05146

Amoebiasis

KEGG

hsa05203

Viral carcinogenesis

KEGG

hsa05322

Systemic lupus erythematosus

KEGG

WP306

Focal Adhesion

WikiPathways

WP2118

Arrhythmogenic Right Ventricular Cardiomyopathy

WikiPathways

WP51

Regulation of Actin Cytoskeleton

WikiPathways

h_cell2cellPathway

Cell to Cell Adhesion Signaling

BioCarta

h_integrinPathway

Integrin Signaling Pathway

BioCarta

h_ucalpainPathway

uCalpain and friends in Cell spread

BioCarta

No diseases found.

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

appendix

lymphoid tissue

breast

glandular cells

breast

myoepithelial cells

bronchus

respiratory epithelial cells

cerebral cortex

neuronal cells

cervix, uterine

glandular cells

colon

glandular cells

endometrium

cells in endometrial stroma

endometrium

glandular cells

epididymis

glandular cells

fallopian tube

glandular cells

gallbladder

glandular cells

hippocampus

neuronal cells

kidney

cells in glomeruli

lung

macrophages

lymph node

non-germinal center cells

nasopharynx

respiratory epithelial cells

pancreas

exocrine glandular cells

pancreas

islets of Langerhans

placenta

decidual cells

placenta

trophoblastic cells

prostate

glandular cells

rectum

glandular cells

salivary gland

glandular cells

seminal vesicle

glandular cells

skin

epidermal cells

small intestine

glandular cells

spleen

cells in red pulp

stomach

glandular cells

thyroid gland

glandular cells

tonsil

non-germinal center cells

tonsil

squamous epithelial cells

urinary bladder

urothelial cells

No databases found.

Pubmed ID Author Year Title

12734205

Wood et al.

2003

The Molecular Phenotype of Polycystic Ovary Syndrome (PCOS) Theca Cells and New Candidate PCOS Genes Defined by Microarray Analysis

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

EGF

1950

P01133

0.00

FYN

2534

P06241

0.00

ITGA2

3673

P17301

0.00

ITGA2B

3674

P08514

0.00

ITGA3

3675

P26006

0.00

ITGA4

3676

P13612

0.00

ITGA7

3679

Q13683

0.00

ITGA9

3680

Q13797

0.00

ITGAV

3685

P06756

0.00

ITGB3

3690

P05106

0.00

ITGB4

3691

P16144

0.00

ITGB5

3693

P18084

0.00

SPTAN1

6709

Q13813

0.00

YES1

7525

P07947

0.00

PIP5K1B

8395

O14986

0.00

PIP4K2B

8396

P78356

0.00

MAGI1

9223

Q96QZ7

0.00

ITGA11

22801

Q9UKX5

0.00

PIP5K1C

23396

O60331

0.00

CTNNA3

29119

Q9UI47

0.00

CALD1

800

Q05682

0.49

CKB

1152

P12277

0.49

CYC1

1537

P08574

0.49

TPM3

7170

P06753

0.49

EZR

7430

P15311

0.49

KDM5C

8242

P41229

0.49

FAF2

23197

Q96CS3

0.49

ECSIT

51295

Q9BQ95

0.49

VCL

7414

P18206

0.52

ACTN2

88

P35609

0.56

ACTN3

89

Q08043

0.63

CD81

975

P60033

0.63

FXN

2395

Q16595

0.63

GTF2H1

2965

P32780

0.63

ICAM1

3383

P05362

0.63

OAS1

4938

P00973

0.63

PSEN1

5663

P49768

0.63

RPS27

6232

P42677

0.63

ATXN2

6311

Q99700

0.63

SRP19

6728

P09132

0.63

GFI1B

8328

Q5VTD9

0.63

NCOA1

8648

Q15788

0.63

GIT2

9815

Q14161

0.63

EPM2AIP1

9852

Q7L775

0.63

STAM2

10254

O75886

0.63

SF3A3

10946

Q12874

0.63

MICALL2

79778

Q8IY33

0.63

IGSF8

93185

Q969P0

0.63

KCTD6

200845

Q8NC69

0.63

SPERT

220082

Q8NA61

0.63

DAG1

1605

Q14118

0.73

MAGEA11

4110

P43364

0.73

XRCC4

7518

Q13426

0.73

TUBA1A

7846

Q71U36

0.73

SORBS2

8470

O94875

0.75

CAMK2A

815

Q9UQM7

0.76

SRC

6714

P12931

0.76

ACTN4

81

O43707

0.79

ADORA2A

135

P29274

0.86

ACTN1

87

P12814

0.96

ACTB

60

P60709

0.00

ACTG1

71

P63261

0.00

MAP1A

4130

P78559

0.49

MAP1B

4131

P46821

0.49

MYH2

4620

Q9UKX2

0.49

TPM1

7168

P09493

0.49

TPM2

7169

P07951

0.49

TPM4

7171

P67936

0.49

MYH15

22989

Q9Y2K3

0.49

ERBB2IP

55914

Q96RT1

0.49

PTK2

5747

Q05397

0.52

PTPN6

5777

P29350

0.52

NEBL

10529

O76041

0.52

PDLIM5

10611

Q96HC4

0.52

CLIC5

53405

Q9NZA1

0.52

MYOZ3

91977

Q8TDC0

0.52

PKD1

5310

P98161

0.55

PLD2

5338

O14939

0.55

MAP2

4133

P11137

0.56

SUN2

25777

Q9UH99

0.56

CDK5

1020

Q00535

0.59

GRIN2A

2903

Q12879

0.62

RAVER1

125950

Q8IY67

0.62

APC

324

P25054

0.63

BMI1

648

P35226

0.63

CACNA1A

773

O00555

0.63

CBL

867

P22681

0.63

CDK2

1017

P24941

0.63

CEBPA

1050

P49715

0.63

EZH2

2146

Q15910

0.63

FBP1

2203

P09467

0.63

GRB2

2885

P62993

0.63

HSPB1

3315

P04792

0.63

HSP90AA1

3320

P07900

0.63

JUN

3725

P05412

0.63

KPNA2

3838

P52292

0.63

MCM2

4171

P49736

0.63

MCM5

4174

P33992

0.63

MDM2

4193

Q00987

0.63

MAP3K1

4214

Q13233

0.63

MTNR1A

4543

P48039

0.63

MTNR1B

4544

P49286

0.63

NTRK1

4914

P04629

0.63

PSMA1

5682

P25786

0.63

ATXN7

6314

O15265

0.63

SVIL

6840

O95425

0.63

TERF1

7013

P54274

0.63

TERF2

7014

Q15554

0.63

TJP1

7082

Q07157

0.63

VCP

7415

P55072

0.63

CSRP3

8048

P50461

0.63

PDHX

8050

O00330

0.63

COIL

8161

P38432

0.63

KAT2B

8850

Q92831

0.63

NUMBL

9253

Q9Y6R0

0.63

MED14

9282

O60244

0.63

ISG15

9636

P05161

0.63

KIAA0101

9768

Q15004

0.63

CUL7

9820

Q14999

0.63

NR1H3

10062

Q13133

0.63

UBD

10537

O15205

0.63

OBSL1

23363

O75147

0.63

GABARAPL1

23710

Q9H0R8

0.63

TES

26136

Q9UGI8

0.63

DCAF8

50717

Q5TAQ9

0.63

LUZP4

51213

Q9P127

0.63

SIRT7

51547

Q9NRC8

0.63

SIRT6

51548

Q8N6T7

0.63

PIAS4

51588

Q8N2W9

0.63

AMBRA1

55626

Q9C0C7

0.63

CDAN1

146059

Q8IWY9

0.63

CSRP1

1465

P21291

0.66

GRIA4

2893

P48058

0.67

LPP

4026

Q93052

0.67

BTK

695

Q06187

0.68

PLEK

5341

P08567

0.68

DDN

23109

O94850

0.70

PTPN1

5770

P18031

0.71

CAPZA2

830

P47755

0.72

CDH1

999

P12830

0.72

CLU

1191

P10909

0.72

ATF2

1386

P15336

0.72

DBN1

1627

Q16643

0.72

HSP90AB1

3326

P08238

0.72

MYH9

4627

P35579

0.72

PHB

5245

P35232

0.72

PPP1CB

5500

P62140

0.72

SLC2A4

6517

P14672

0.72

IQGAP1

8826

P46940

0.72

PDLIM7

9260

Q9NR12

0.72

SYNPO

11346

Q8N3V7

0.72

MAPRE1

22919

Q15691

0.72

TRAF3IP1

26146

Q8TDR0

0.72

ANLN

54443

Q9NQW6

0.72

MYO19

80179

Q96H55

0.72

HSF5

124535

Q4G112

0.72

ESR1

2099

P03372

0.73

SUMO2

6613

P61956

0.73

ITGB1

3688

P05556

0.75

MYOZ2

51778

Q9NPC6

0.76

MYOZ1

58529

Q9NP98

0.76

SUMO3

6612

P55854

0.79

ESR2

2100

Q92731

0.82

MYOT

9499

Q9UBF9

0.84

PALLD

23022

Q8WX93

0.84

CTNNA1

1495

P35221

0.85

SUMO1

7341

P63165

0.85

COL17A1

1308

Q9UMD9

0.86

PYGB

5834

P11216

0.86

CDK5R2

8941

Q13319

0.87

PKN1

5585

Q16512

0.88

ZYX

7791

Q15942

0.89

TTN

7273

Q8WZ42

0.90

CDK5R1

8851

Q15078

0.90

PDLIM1

9124

O00151

0.90

SSX2IP

117178

Q9Y2D8

0.90

GIPC1

10755

O14908

0.95