RBCC Red Blood Cell Collection

RB33B_HUMAN

Source: hRBCD ; ID: IPI00021475
PM19886704
PM23856902
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: RAB33B
Protein names and data: RB33B_HUMAN , Ras-related protein Rab-33B Lenght: 229 a.a.
Mass: 25718 Da
fasta formatted sequence
Function: Protein transport. Acts, in coordination with RAB6A, to regulate intra-Golgi retrograde trafficking. It is involved in autophagy, acting as a modulator of autophagosome formation.
Disease: ( OMIM: 605950 615222 ) Smith-McCort dysplasia 2 (SMC2) [MIM:615222]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Golgi apparatus membrane; Lipid-anchor (By similarity). Golgi apparatus, cis-Golgi network.

Genetic variants

46 - 46 K -> Q (in SMC2). VAR_068854
148 - 148 N -> K (in SMC2; strongly inhibits protein expression and may disrupt the Golgi apparatus structure). VAR_068855

Database cross-references

UniProt: Q9H082
Ensembl: ENST00000305626
MIM: 605950
MIM: 615222
neXtProt: NX_Q9H082
Antibodypedia: Q9H082 (may not find the protein thus also not any antibody)
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