RBCC Red Blood Cell Collection

VPP4_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: ATP6V0A4 , ATP6N1B, ATP6N2
Protein names and data: VPP4_HUMAN , V-type proton ATPase 116 kDa subunit a isoform 4; V-ATPase 116 kDa isoform a4 , Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform Lenght: 840 a.a.
Mass: 96386 Da
fasta formatted sequence
Function: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney (By similarity).
Disease: ( OMIM: 602722 605239 ) Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722]: An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Apical cell membrane; Multi-pass membrane protein. Note=Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.
Tissue specificity: Expressed in adult and fetal kidney. Found in the inner ear.

Genetic variants

2 - 2 V -> A (in dbSNP:rs10258719). VAR_020992 10258719
175 - 175 G -> D (in RTADR). VAR_020993
237 - 237 Missing (in RTADR). VAR_020994
449 - 449 R -> H (in RTADR). VAR_020995
524 - 524 P -> L (in RTADR). VAR_017255
554 - 554 F -> L (in dbSNP:rs1026435). VAR_066612 1026435
580 - 580 M -> T (in RTADR; dbSNP:rs3807153). VAR_017256 3807153
604 - 604 H -> Q (in dbSNP:rs3807154). VAR_066613 3807154
807 - 807 R -> Q (in RTADR; dbSNP:rs28939081). VAR_020996 28939081
820 - 820 G -> R (in RTADR). VAR_017257

Database cross-references

UniProt: Q9HBG4
Ensembl: ENST00000310018
Ensembl: ENST00000353492
Ensembl: ENST00000393054
MIM: 602722
MIM: 605239
neXtProt: NX_Q9HBG4
Antibodypedia: Q9HBG4 (may not find the protein thus also not any antibody)
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