RBCC Red Blood Cell Collection

VPS45_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: VPS45 , VPS45A, VPS45B
Protein names and data: VPS45_HUMAN , Vacuolar protein sorting-associated protein 45; h-VPS45; hlVps45 Lenght: 570 a.a.
Mass: 65077 Da
fasta formatted sequence
Function: May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
Disease: ( OMIM: 610035 615285 ) Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]: An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life- threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Golgi apparatus membrane; Peripheral membrane protein (By similarity). Endosome membrane; Peripheral membrane protein (By similarity). Note=Associated with Golgi/endosomal vesicles and the trans-Golgi network (By similarity).
Tissue specificity: Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liver.

Genetic variants

224 - 224 T -> N (in SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis). VAR_069865
238 - 238 E -> K (in SCN5). VAR_069866

Database cross-references

UniProt: Q9NRW7
Ensembl: ENST00000369130
MIM: 610035
MIM: 615285
neXtProt: NX_Q9NRW7
Antibodypedia: Q9NRW7 (may not find the protein thus also not any antibody)
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