RBCC Red Blood Cell Collection

RAB23_HUMAN

Source: 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: RAB23 , HSPC137
Protein names and data: RAB23_HUMAN , Ras-related protein Rab-23; Flags: Precursor Lenght: 237 a.a.
Mass: 26659 Da
fasta formatted sequence
Function: The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.
Disease: ( OMIM: 201000 606144 ) Carpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Cell membrane. Cytoplasm. Cytoplasmic vesicle, autophagosome. Endosome membrane (By similarity). Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Recruited to phagosomes containing S.aureus or M.tuberculosis.

Genetic variants

12 - 12 M -> K (in CRPT1). VAR_065294
13 - 13 Missing. VAR_034900
40 - 40 K -> R (in dbSNP:rs45442500). VAR_034901 45442500
79 - 79 Missing (in CRPT1). VAR_065295
85 - 85 C -> R (in CRPT1). VAR_034902
101 - 101 S -> A (in dbSNP:rs45479896). VAR_034903 45479896
207 - 207 G -> S (in dbSNP:rs1040461). VAR_017159 1040461

Database cross-references

UniProt: Q9ULC3
Ensembl: ENST00000317483
Ensembl: ENST00000468148
MIM: 201000
MIM: 606144
neXtProt: NX_Q9ULC3
Antibodypedia: Q9ULC3 (may not find the protein thus also not any antibody)
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