RBCC Red Blood Cell Collection

ACTN4_HUMAN

Source: hRBCD ; ID: IPI00013808
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: ACTN4
Protein names and data: ACTN4_HUMAN , Alpha-actinin-4 , F-actin cross-linking protein; Non-muscle alpha-actinin 4 Lenght: 911 a.a.
Mass: 104854 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. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions.
Disease: ( OMIM: 603278 604638 ) Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus. Cytoplasm. Cell junction (By similarity). Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Colocalizes with actin stress fibers. Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF-7, oral floor cancer IMC-2, and bladder cancer KU- 7).
Tissue specificity: Widely expressed.

Genetic variants

255 - 255 K -> E (in FSGS1; dbSNP:rs28939374). VAR_010378 28939374
259 - 259 T -> I (in FSGS1; dbSNP:rs28939375). VAR_010379 28939375
262 - 262 S -> P (in FSGS1; dbSNP:rs28939376). VAR_010380 28939376

Database cross-references

UniProt: O43707
Ensembl: ENST00000252699
Ensembl: ENST00000390009
MIM: 603278
MIM: 604638
neXtProt: NX_O43707
Antibodypedia: O43707 (may not find the protein thus also not any antibody)
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