RBCC Red Blood Cell Collection

DSG1_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: DSG1 , CDHF4
Protein names and data: DSG1_HUMAN , Desmoglein-1 , Cadherin family member 4; Desmosomal glycoprotein 1; DG1; DGI; Pemphigus foliaceus antigen; Flags: Precursor Lenght: 1049 a.a.
Mass: 113748 Da
fasta formatted sequence
Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion.
Disease: ( OMIM: 125670 148700 ) Keratoderma, palmoplantar, striate 1 (SPPK1) [MIM:148700]: A dermatological disorder characterized by thickening of the skin on the palms and soles, and longitudinal hyperkeratotic lesions on the palms, running the length of each finger. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome.
Tissue specificity: Epidermis, tongue, tonsil and esophagus.

Genetic variants

11 - 11 M -> V (in dbSNP:rs1426310). VAR_060248 1426310
395 - 395 T -> S (in dbSNP:rs16961655). VAR_055573 16961655
493 - 493 N -> T (in dbSNP:rs8091003). VAR_024385 8091003
498 - 498 T -> N (in dbSNP:rs8091117). VAR_024386 8091117
528 - 528 Y -> S (in dbSNP:rs16961689). VAR_055574 16961689
538 - 538 D -> N (in dbSNP:rs34302455). VAR_055575 34302455
665 - 665 M -> I (in dbSNP:rs35360042). VAR_055576 35360042
821 - 821 L -> Q (in dbSNP:rs16961692). VAR_055577 16961692
828 - 828 D -> N (in dbSNP:rs3752094). VAR_060249 3752094
841 - 841 Y -> F (in dbSNP:rs3752095). VAR_020364 3752095

Database cross-references

UniProt: Q02413
Ensembl: ENST00000257192
MIM: 125670
MIM: 148700
neXtProt: NX_Q02413
Antibodypedia: Q02413 (may not find the protein thus also not any antibody)
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