ACTB_HUMAN
Source:
hRBCD
; ID:
IPI00021439
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
ACTB
Protein names and data:
ACTB_HUMAN
, Actin, cytoplasmic 1
, Beta-actin; Actin, cytoplasmic 1, N-terminally processed
Lenght: 375 a.a.
Mass: 41737 Da
fasta formatted sequence
Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Disease:
( OMIM:
102630
243310
607371
)
Dystonia, juvenile-onset (DYTJ) [MIM:607371]: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
Genetic variants
12 - 12
N -> D (in BRWS1; dbSNP:rs281875331). VAR_067810
281875331
65 - 65
L -> V (in BRWS1; dbSNP:rs281875332). VAR_067811
281875332
183 - 183
R -> W (in DYTJ; modifies cell response to latrunculin A). VAR_030026
196 - 196
R -> C (in BRWS1; dbSNP:rs281875333). VAR_067812
281875333
196 - 196
R -> H (in BRWS1; dbSNP:rs281875334). VAR_067813
281875334
243 - 243
P -> L (in dbSNP:rs11546899). VAR_048185
11546899
Database cross-references
UniProt:
P60709
Ensembl:
ENST00000331789
MIM:
102630
MIM:
243310
MIM:
607371
neXtProt:
NX_P60709
Antibodypedia:
P60709
(may not find the protein thus also not any antibody)
Local full text data:
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