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PMID:15052268

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Citation

Gissen, P, Johnson, CA, Morgan, NV, Stapelbroek, JM, Forshew, T, Cooper, WN, McKiernan, PJ, Klomp, LW, Morris, AA, Wraith, JE, McClean, P, Lynch, SA, Thompson, RJ, Lo, B, Quarrell, OW, Di Rocco, M, Trembath, RC, Mandel, H, Wali, S, Karet, FE, Knisely, AS, Houwen, RH, Kelly, DA and Maher, ER (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat. Genet. 36:400-4

Abstract

ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC, we mapped the disease to a 7-cM interval on 15q26.1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.

Links

PubMed Online version:10.1038/ng1325

Keywords

Arthrogryposis/genetics; Blotting, Western; Cell Line; Cholestasis/genetics; Chromosomes, Human, Pair 15; Electrophoresis, Polyacrylamide Gel; Female; Humans; Kidney Diseases/genetics; Male; Membrane Fusion/genetics; Membrane Fusion/physiology; Membrane Proteins/chemistry; Membrane Proteins/genetics; Membrane Proteins/physiology; Mutation; Plasmids; Proteins/chemistry; Proteins/genetics; SNARE Proteins; Syndrome; Vesicular Transport Proteins

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CEAM5

located_in

GO:0016323: basolateral plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:LAMP1

located_in

GO:0005764: lysosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:LAMP1

located_in

GO:0005770: late endosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:DPP4

located_in

GO:0016324: apical plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:VP33B

located_in

GO:0005737: cytoplasm

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:VP33B

located_in

GO:0005764: lysosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:VP33B

involved_in

GO:0015031: protein transport

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:VP33B

located_in

GO:0005770: late endosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:VP33B

involved_in

GO:0061025: membrane fusion

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:LAMP1

part_of

GO:0005764: lysosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:LAMP1

part_of

GO:0005770: late endosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:DPP4

part_of

GO:0016324: apical plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete


See also

References

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