RBCC Red Blood Cell Collection

ACTN1_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ACTN1
Protein names and data: ACTN1_HUMAN , Alpha-actinin-1 , Alpha-actinin cytoskeletal isoform; F-actin cross-linking protein; Non-muscle alpha-actinin-1 Lenght: 892 a.a.
Mass: 103058 Da
fasta formatted sequence
Function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Disease: ( OMIM: 102575 615193 ) Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane (By similarity). Cell junction (By similarity). Cell projection, ruffle (By similarity). Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By similarity).

Genetic variants

32 - 32 Q -> K (in BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization). VAR_069910
46 - 46 R -> Q (in BDPLT15). VAR_069911
105 - 105 V -> I (in BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization). VAR_069912
197 - 197 R -> W. VAR_069913
225 - 225 E -> K (in BDPLT15). VAR_069914
707 - 707 N -> T (in dbSNP:rs7157661). VAR_053883 7157661
738 - 738 R -> W (in BDPLT15). VAR_069915
752 - 752 R -> Q (in BDPLT15). VAR_069916
868 - 868 T -> S (in dbSNP:rs11557769). VAR_053884 11557769

Database cross-references

UniProt: P12814
Ensembl: ENST00000193403
Ensembl: ENST00000394419
Ensembl: ENST00000438964
Ensembl: ENST00000538545
MIM: 102575
MIM: 615193
neXtProt: NX_P12814
Antibodypedia: P12814 (may not find the protein thus also not any antibody)
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