RBCC Red Blood Cell Collection

E41L1_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: EPB41L1 , KIAA0338
Protein names and data: E41L1_HUMAN , Band 4.1-like protein 1 , Neuronal protein 4.1; 4.1N Lenght: 881 a.a.
Mass: 98503 Da
fasta formatted sequence
Function: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.
Disease: ( OMIM: 602879 614257 ) Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton.
Tissue specificity: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.

Genetic variants

854 - 854 P -> S (in MRD11; results in a 50% reduction of interaction of 4.1N protein to GRIA1 compared to wild-type). VAR_066600

Database cross-references

UniProt: Q9H4G0
Ensembl: ENST00000202028
Ensembl: ENST00000338074
Ensembl: ENST00000373941
Ensembl: ENST00000373946
Ensembl: ENST00000373950
Ensembl: ENST00000441639
MIM: 602879
MIM: 614257
neXtProt: NX_Q9H4G0
Antibodypedia: Q9H4G0 (may not find the protein thus also not any antibody)
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