ACTB: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

ACTB

Aliases

BRWS1, PS1TP5BP1

Entrez Gene ID

Gene Name

Actin beta

Chromosomal Location

7p22.1

HGNC ID

HGNC:132

Summary

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]

RefSeq DNA

NG_007992.1

RefSeq mRNA

NM_001101.5, NM_001101.3

e!Ensembl

Gene	ENSG00000075624
Transcript	ENST00000646664, ENST00000464611, ENST00000425660, ENST00000493945, ENST00000645576, ENST00000647275, ENST00000642480, ENST00000432588, ENST00000443528, ENST00000417101, ENST00000414620
Protein	ENSP00000494750, ENSP00000495059, ENSP00000409264, ENSP00000494269, ENSP00000496101, ENSP00000494185, ENSP00000495995, ENSP00000407473, ENSP00000393951, ENSP00000399487, ENSP00000401032

Gene Ontology (GO)

Show/Hide all(59 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001895	Biological process	Retina homeostasis	HEP	23580065
GO:0007409	Biological process	Axonogenesis	IBA	21873635
GO:0021762	Biological process	Substantia nigra development	HEP	22926577
GO:0022898	Biological process	Regulation of transmembrane transporter activity	IGI	18331289
GO:0022898	Biological process	Regulation of transmembrane transporter activity	ISS	18331289
GO:0043044	Biological process	ATP-dependent chromatin remodeling	HDA	16217013
GO:0048870	Biological process	Cell motility	IBA	21873635
GO:0048870	Biological process	Cell motility	IMP	6202424
GO:0051621	Biological process	Regulation of norepinephrine uptake	IGI	18331289
GO:0051621	Biological process	Regulation of norepinephrine uptake	ISS	18331289
GO:0051623	Biological process	Positive regulation of norepinephrine uptake	TAS	18331289
GO:0070527	Biological process	Platelet aggregation	HMP	23382103
GO:0072749	Biological process	Cellular response to cytochalasin B	IMP	6202424
GO:0098974	Biological process	Postsynaptic actin cytoskeleton organization	IDA	18341992
GO:1903076	Biological process	Regulation of protein localization to plasma membrane	IMP	18331289
GO:0000790	Cellular component	Nuclear chromatin	HDA	16217013
GO:0005615	Cellular component	Extracellular space	HDA	16502470, 22664934, 23580065
GO:0005634	Cellular component	Nucleus	IDA	11687588
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005737	Cellular component	Cytoplasm	IDA	24327345
GO:0005737	Cellular component	Cytoplasm	TAS	16130169
GO:0005856	Cellular component	Cytoskeleton	IDA	24327345
GO:0005856	Cellular component	Cytoskeleton	TAS	16130169
GO:0005925	Cellular component	Focal adhesion	HDA	21423176
GO:0015629	Cellular component	Actin cytoskeleton	IBA	21873635
GO:0015629	Cellular component	Actin cytoskeleton	IDA	11687588
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0016020	Cellular component	Membrane	IBA	21873635
GO:0030424	Cellular component	Axon	IBA	21873635
GO:0031982	Cellular component	Vesicle	HDA	19190083
GO:0032991	Cellular component	Protein-containing complex	HDA	16217013
GO:0032991	Cellular component	Protein-containing complex	IDA	11687588
GO:0035267	Cellular component	NuA4 histone acetyltransferase complex	IBA	21873635
GO:0035267	Cellular component	NuA4 histone acetyltransferase complex	IDA	10966108
GO:0036464	Cellular component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0045202	Cellular component	Synapse	IBA	21873635
GO:0070062	Cellular component	Extracellular exosome	HDA	11487543, 19199708, 20458337, 21362503, 23533145
GO:0072562	Cellular component	Blood microparticle	HDA	22516433
GO:0098793	Cellular component	Presynapse	TAS	18331289
GO:0098871	Cellular component	Postsynaptic actin cytoskeleton	EXP	18341992
GO:0098871	Cellular component	Postsynaptic actin cytoskeleton	IDA	18341992
GO:0098978	Cellular component	Glutamatergic synapse	EXP	18341992
GO:0098978	Cellular component	Glutamatergic synapse	IDA	18341992
GO:1990904	Cellular component	Ribonucleoprotein complex	IDA	17289661
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	HDA	16217013
GO:0000980	Molecular function	RNA polymerase II distal enhancer sequence-specific DNA binding	HDA	16217013
GO:0005200	Molecular function	Structural constituent of cytoskeleton	TAS	6202424
GO:0005515	Molecular function	Protein binding	IPI	11687588, 14592989, 15047060, 15161933, 15328537, 16189514, 16375898, 17192268, 17342765, 17404223, 17502619, 17599063, 17823310, 18331289, 18562541, 19000816, 19008859, 19328794, 19338310, 20473970, 20618440, 21044950, 21516116, 21555369, 21577206, 21969592, 23100250, 25416956, 259
GO:0019894	Molecular function	Kinesin binding	IPI	18680169
GO:0019901	Molecular function	Protein kinase binding	IBA	21873635
GO:0019901	Molecular function	Protein kinase binding	IPI	24327345
GO:0030957	Molecular function	Tat protein binding	IPI	16687403
GO:0031492	Molecular function	Nucleosomal DNA binding	HDA	16217013
GO:0042802	Molecular function	Identical protein binding	IPI	16189514, 17404223, 18234857, 19000816, 20383143, 21516116, 25416956, 25910212
GO:0048156	Molecular function	Tau protein binding	NAS	28386764
GO:0050998	Molecular function	Nitric-oxide synthase binding	IPI	17502619
GO:0098973	Molecular function	Structural constituent of postsynaptic actin cytoskeleton	EXP	18341992
GO:0098973	Molecular function	Structural constituent of postsynaptic actin cytoskeleton	IBA	21873635
GO:0098973	Molecular function	Structural constituent of postsynaptic actin cytoskeleton	IDA	18341992

Protein Information

Protein Name

Actin, cytoplasmic 1, I(2)-actin, PS1TP5-binding protein 1, beta cytoskeletal actin

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).

Refseq Proteins

NP_001092.1

UniProt

P60709

PDB

3BYH, 3D2U, 3J82, 3LUE, 6ANU, 6ICT, 6ICV, 6MBJ, 6MBK, 6MBL