Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

ACTB

contributors: mct - updated : 30-01-2018

HGNC name	actin, beta
HGNC id	132

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACTB recurrent infection, photosensitivity and mild mental retardation BRWS1 Baraitser-Winter syndrome-1 DYTD dystonia, deafness
Location	7p22.1      Physical location : 5.566.782 - 5.570.232
Synonym name	PS1TP5-binding protein 1
	beta cytoskeletal actin
Synonym symbol(s)	PS1TP5BP1

DNA

TYPE	functioning gene
STRUCTURE	3.45 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

close to FSCN1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001101 6 - 1852 NP_001092 - 375 - 2004 15555571

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       predominantly Mus musculus Lymphoid/Immune spleen       highly   tonsils       predominantly Nervous brain forebrain cerebral cortex   predominantly Mus musculus Urinary kidney       predominantly Mus musculus Visual eye anterior segment cornea

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Actb

Homologene

FAMILY

actin family

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
	in the nucleus ACTB regulates gene expression, cell division, and proliferation
	GDF11, ACTB and FST are crucial components of a circuit that controls both total cell number and the ratio of neuronal versus glial cells in in this system
	cytoplasmic actin, having a central role in the pathogenesis of lissencephaly
	required for early embryonic development
	essential role for ACTB in regulating cell migration and gene expression through control of the cellular G-actin pool
	cytoplasmic actin isoforms ACTB and ACTG1 play unique roles in regulating structure and permeability of epithelial junctions
	ACTB and ADD2 are membrane cytoskeletal proteins, involved in synaptic function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility

INTERACTION

DNA

RNA

small molecule

protein	ACTB/ACTL6A complex formation might be a crucial feature in some chromatin-modifying enzyme complexes, such as the SMARCA4 complex
	VPS13A interacts with beta-adducin (ADD2) and beta-actin (ACTB)
	specific interaction of KIF11 with IGF2BP1 regulates the transport of ACTB mRNA and cell motility

cell & other

REGULATION

Phosphorylated by

can be directly tyrosine-phosphorylated by CSK, and in a CSK-dependent manner in cells

ASSOCIATED DISORDERS

corresponding disease(s)

ACTB , DYTD , BRWS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in gastric cancer tumoral fusion       with GLI1 in through the translocation t(7;12)(p22;q13), in pericytoma tumoral germinal mutation       may be associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Actb-/- mice are embryonic lethal