RBCC Red Blood Cell Collection

FINC_HUMAN

Source: hRBCD ; ID: IPI00022418
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: FN1 , FN
Protein names and data: FINC_HUMAN , Fibronectin; FN , Cold-insoluble globulin; CIG; Anastellin; Ugl-Y1; Ugl-Y2; Ugl-Y3; Flags: Precursor Lenght: 2386 a.a.
Mass: 262625 Da
fasta formatted sequence
Function: Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts. Anastellin binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling.
Disease: ( OMIM: 135600 601894 ) Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894]: Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted, extracellular space, extracellular matrix.
Tissue specificity: Plasma FN (soluble dimeric form) is secreted by hepatocytes. Cellular FN (dimeric or cross-linked multimeric forms), made by fibroblasts, epithelial and other cell types, is deposited as fibrils in the extracellular matrix. Ugl-Y1, Ugl-Y2 and Ugl-Y3 are found in urine.

Genetic variants

15 - 15 Q -> L (in dbSNP:rs1250259). VAR_043917 1250259
817 - 817 T -> P (in dbSNP:rs2577301). VAR_059529 2577301
940 - 940 D -> N (in a breast cancer sample; somatic mutation). VAR_036018
973 - 973 Y -> C (in GFND2). VAR_043918
1120 - 1120 R -> P (in a breast cancer sample; somatic mutation). VAR_036019
1467 - 1467 S -> R (in dbSNP:rs11687611). VAR_056576 11687611
1834 - 1834 W -> R (in GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress- fiber formation). VAR_043919
1883 - 1883 L -> R (in GFND2; reduced binding to heparin, endothelial cells and podocytes; impaired capability to induce stress- fiber formation). VAR_043920
1960 - 1960 I -> V (in dbSNP:rs1250209). VAR_043921 1250209
2121 - 2121 I -> V (in dbSNP:rs17449032). VAR_056577 17449032
2170 - 2170 V -> I (in dbSNP:rs1250209). VAR_061486 1250209
2380 - 2380 D -> N (in a colorectal cancer sample; somatic mutation). VAR_036020

Database cross-references

UniProt: P02751
Ensembl: ENST00000323926
Ensembl: ENST00000336916
Ensembl: ENST00000345488
Ensembl: ENST00000354785
Ensembl: ENST00000356005
Ensembl: ENST00000357009
Ensembl: ENST00000357867
Ensembl: ENST00000359671
Ensembl: ENST00000421182
Ensembl: ENST00000432072
Ensembl: ENST00000443816
Ensembl: ENST00000446046
MIM: 135600
MIM: 601894
neXtProt: NX_P02751
Antibodypedia: P02751 (may not find the protein thus also not any antibody)
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