RBCC Red Blood Cell Collection

FAT1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: FAT1 , CDHF7, FAT
Protein names and data: FAT1_HUMAN , Protocadherin Fat 1 , Cadherin family member 7; Cadherin-related tumor suppressor homolog; Protein fat homolog; Protocadherin Fat 1, nuclear form; Flags: Precursor Lenght: 4588 a.a.
Mass: 506273 Da
fasta formatted sequence
Function: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact (By similarity).
Cellular location: Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, perinuclear region.
Tissue specificity: Expressed in many epithelial and some endothelial and smooth muscle cells.

Genetic variants

131 - 131 A -> V (in dbSNP:rs3733415). VAR_055590 3733415
1330 - 1330 N -> S (in dbSNP:rs874111). VAR_055591 874111
1564 - 1564 A -> T (in dbSNP:rs2304867). VAR_055592 2304867
1605 - 1605 N -> D (in dbSNP:rs6836935). VAR_055593 6836935
3800 - 3800 P -> H (in dbSNP:rs11731738). VAR_055594 11731738

Database cross-references

UniProt: Q14517
Ensembl: ENST00000441802
MIM: 600976
neXtProt: NX_Q14517
Antibodypedia: Q14517 (may not find the protein thus also not any antibody)
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