Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
60 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Actin beta |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
ACTB |
SynonymsGene synonyms aliases
|
BRWS1, PS1TP5BP1 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7p22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs104894003 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs281875331 |
T>C,G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs281875332 |
G>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs281875333 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs281875334 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs368352689 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
rs397515470 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs587779769 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs587779770 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs587779771 |
A>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs587779772 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs587779773 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
rs587779774 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs587779775 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs587779776 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs587779777 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs587780273 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs755437923 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs765265404 |
C>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, missense variant |
rs768401130 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
rs769182426 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
rs786205585 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs797044950 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant, synonymous variant |
rs886039472 |
C>T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
rs886041266 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs886041267 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs886041270 |
G>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs886041309 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
rs886041790 |
C>A,G |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
rs1057517888 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057518071 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant, synonymous variant |
rs1057518073 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057518142 |
->GGAGGGGCCGGACT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1064793444 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1131691341 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1554329068 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1554329078 |
->C |
Pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
rs1554329113 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554329182 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554329216 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554329269 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
rs1554329281 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1554329331 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554329516 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
rs1554329523 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554329546 |
AAG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1554329552 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1554329554 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554329584 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554329646 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1562718649 |
->G |
Pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
rs1562718846 |
TGGTGGTGCCGCCAGACA>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1562719872 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1562720119 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1584261979 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000079 |
Process |
Regulation of cyclin-dependent protein serine/threonine kinase activity |
ISS |
|
GO:0000785 |
Component |
Chromatin |
HDA |
16217013 |
GO:0001738 |
Process |
Morphogenesis of a polarized epithelium |
IMP |
22855531 |
GO:0001895 |
Process |
Retina homeostasis |
HEP |
23580065 |
GO:0005200 |
Function |
Structural constituent of cytoskeleton |
TAS |
6202424 |
GO:0005515 |
Function |
Protein binding |
IPI |
11687588, 14592989, 15047060, 15161933, 15328537, 16049941, 16189514, 16375898, 17192268, 17342765, 17404223, 17502619, 17599063, 17823310, 18331289, 18562541, 19000816, 19008859, 19328794, 19338310, 20473970, 20618440, 21044950, 21516116, 21555369, 21577206, 21969592, 22038833, 231 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005615 |
Component |
Extracellular space |
HDA |
16502470, 22664934, 23580065 |
GO:0005634 |
Component |
Nucleus |
IDA |
11687588 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
24327345 |
GO:0005737 |
Component |
Cytoplasm |
TAS |
16130169 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005856 |
Component |
Cytoskeleton |
IDA |
24327345 |
GO:0005856 |
Component |
Cytoskeleton |
ISS |
|
GO:0005856 |
Component |
Cytoskeleton |
TAS |
16130169 |
GO:0005884 |
Component |
Actin filament |
IBA |
21873635 |
GO:0005886 |
Component |
Plasma membrane |
ISS |
|
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0005911 |
Component |
Cell-cell junction |
IMP |
25753039 |
GO:0005912 |
Component |
Adherens junction |
IDA |
22855531 |
GO:0005925 |
Component |
Focal adhesion |
HDA |
21423176 |
GO:0007163 |
Process |
Establishment or maintenance of cell polarity |
IMP |
22855531 |
GO:0007409 |
Process |
Axonogenesis |
IBA |
21873635 |
GO:0015629 |
Component |
Actin cytoskeleton |
IDA |
11687588 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016020 |
Component |
Membrane |
IBA |
21873635 |
GO:0016579 |
Process |
Protein deubiquitination |
TAS |
|
GO:0019894 |
Function |
Kinesin binding |
IPI |
18680169 |
GO:0019901 |
Function |
Protein kinase binding |
IBA |
21873635 |
GO:0019901 |
Function |
Protein kinase binding |
IPI |
24327345 |
GO:0021762 |
Process |
Substantia nigra development |
HEP |
22926577 |
GO:0022898 |
Process |
Regulation of transmembrane transporter activity |
IGI |
18331289 |
GO:0022898 |
Process |
Regulation of transmembrane transporter activity |
ISS |
18331289 |
GO:0030027 |
Component |
Lamellipodium |
IDA |
24415753 |
GO:0030424 |
Component |
Axon |
IBA |
21873635 |
GO:0030957 |
Function |
Tat protein binding |
IPI |
16687403 |
GO:0031492 |
Function |
Nucleosomal DNA binding |
HDA |
16217013 |
GO:0031982 |
Component |
Vesicle |
HDA |
19190083 |
GO:0032091 |
Process |
Negative regulation of protein binding |
ISS |
|
GO:0032991 |
Component |
Protein-containing complex |
HDA |
16217013 |
GO:0032991 |
Component |
Protein-containing complex |
IDA |
11687588, 24415753 |
GO:0034329 |
Process |
Cell junction assembly |
TAS |
|
GO:0034333 |
Process |
Adherens junction assembly |
IMP |
22855531 |
GO:0035267 |
Component |
NuA4 histone acetyltransferase complex |
IBA |
21873635 |
GO:0035267 |
Component |
NuA4 histone acetyltransferase complex |
IDA |
10966108 |
GO:0035633 |
Process |
Maintenance of blood-brain barrier |
NAS |
30280653 |
GO:0036464 |
Component |
Cytoplasmic ribonucleoprotein granule |
IDA |
15121898 |
GO:0038096 |
Process |
Fc-gamma receptor signaling pathway involved in phagocytosis |
TAS |
|
GO:0042802 |
Function |
Identical protein binding |
IPI |
16189514, 17404223, 18234857, 19000816, 20383143, 21516116, 25416956, 25502805, 25910212, 29892012, 31515488, 32296183 |
GO:0043044 |
Process |
ATP-dependent chromatin remodeling |
HDA |
16217013 |
GO:0043296 |
Component |
Apical junction complex |
IDA |
22855531 |
GO:0045176 |
Process |
Apical protein localization |
IMP |
22855531 |
GO:0045202 |
Component |
Synapse |
IBA |
21873635 |
GO:0045815 |
Process |
Positive regulation of gene expression, epigenetic |
TAS |
|
GO:0048013 |
Process |
Ephrin receptor signaling pathway |
TAS |
|
GO:0048156 |
Function |
Tau protein binding |
NAS |
28386764 |
GO:0048870 |
Process |
Cell motility |
IBA |
21873635 |
GO:0048870 |
Process |
Cell motility |
IMP |
6202424 |
GO:0050998 |
Function |
Nitric-oxide synthase binding |
IPI |
17502619 |
GO:0051621 |
Process |
Regulation of norepinephrine uptake |
IGI |
18331289 |
GO:0051621 |
Process |
Regulation of norepinephrine uptake |
ISS |
18331289 |
GO:0051623 |
Process |
Positive regulation of norepinephrine uptake |
TAS |
18331289 |
GO:0061024 |
Process |
Membrane organization |
TAS |
|
GO:0070062 |
Component |
Extracellular exosome |
HDA |
11487543, 19199708, 20458337, 21362503, 23533145 |
GO:0070160 |
Component |
Tight junction |
IDA |
22855531 |
GO:0070527 |
Process |
Platelet aggregation |
HMP |
23382103 |
GO:0071896 |
Process |
Protein localization to adherens junction |
IMP |
22855531 |
GO:0072562 |
Component |
Blood microparticle |
HDA |
22516433 |
GO:0072749 |
Process |
Cellular response to cytochalasin B |
IMP |
6202424 |
GO:0097433 |
Component |
Dense body |
ISS |
|
GO:0098793 |
Component |
Presynapse |
TAS |
18331289 |
GO:0098871 |
Component |
Postsynaptic actin cytoskeleton |
IDA |
18341992 |
GO:0098871 |
Component |
Postsynaptic actin cytoskeleton |
IMP |
18341992 |
GO:0098973 |
Function |
Structural constituent of postsynaptic actin cytoskeleton |
EXP |
18341992 |
GO:0098973 |
Function |
Structural constituent of postsynaptic actin cytoskeleton |
IBA |
21873635 |
GO:0098973 |
Function |
Structural constituent of postsynaptic actin cytoskeleton |
IDA |
18341992 |
GO:0098973 |
Function |
Structural constituent of postsynaptic actin cytoskeleton |
IMP |
18341992 |
GO:0098974 |
Process |
Postsynaptic actin cytoskeleton organization |
IDA |
18341992 |
GO:0098978 |
Component |
Glutamatergic synapse |
EXP |
18341992 |
GO:0098978 |
Component |
Glutamatergic synapse |
IDA |
18341992 |
GO:0098978 |
Component |
Glutamatergic synapse |
IMP |
18341992 |
GO:0150111 |
Process |
Regulation of transepithelial transport |
IMP |
22855531 |
GO:1903076 |
Process |
Regulation of protein localization to plasma membrane |
IMP |
18331289 |
GO:1990904 |
Component |
Ribonucleoprotein complex |
IDA |
17289661 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P60709 |
Protein name |
Actin, cytoplasmic 1 (Beta-actin) [Cleaved into: Actin, cytoplasmic 1, N-terminally processed] |
Protein function |
Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). |
PDB |
3BYH
,
3D2U
,
3J82
,
3LUE
,
6ANU
,
6ICT
,
6ICV
,
6LTJ
,
6MBJ
,
6MBK
,
6MBL
,
6NBW
,
6OX0
,
6OX1
,
6OX2
,
6OX3
,
6OX4
,
6OX5
,
6V62
,
6V63
,
6WK1
,
6WK2
,
7AS4
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00022 |
Actin |
2 → 375 |
Actin |
Family |
|
Sequence |
|
Sequence length |
375 |
Interactions |
View interactions |
|
|