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ADP-ribosylation factor-like protein 6; Bardet-Biedl syndrome 3 protein (ARL6)
Function:
- interacts with SEC61B, ARL6IP1, ARL6IP2, ARL6IP3, ARL6IP4 ARL6IP5 & ARL6IP6 (putative)
Structure:
- belongs to the small GTPase superfamily, Arf family
Compartment: cytoplasm (putative)
Pathology:
- defects in ARL6 are a cause of Bardet-Biedl syndrome type 3
Related
ARL-6-interacting protein 1; ADP-ribosylation-like factor 6-interacting protein 1; Aip-1 (ARL6IP, ARL6IP1, KIAA0069)
General
ADP-ribosylation factor-like protein (ARL)
Properties
SIZE: entity length = 186 aa
MW = 21 kD
COMPARTMENT: cytoplasm
MOTIF: myristoylation site
SITE: G2
EFFECTOR-BOUND: myristate
GTP-binding site
SITE: 24-31
MOTIF: Mg+2-binding site
SITE: 31-31
Mg+2-binding site
SITE: 50-50
MOTIF: binding site
SITE: 50-50
FOR-BINDING-OF: GTP
GTP-binding site
SITE: 69-73
MOTIF: binding site
SITE: 72-72
FOR-BINDING-OF: GTP; via amide nitrogen
GTP-binding site
SITE: 130-133
binding site
SITE: 164-164
FOR-BINDING-OF: GTP; via amide nitrogen
Database Correlations
OMIM correlations
MORBIDMAP 608845
UniProt Q9H0F7
Pfam PF00025
Entrez Gene 84100
Kegg hsa:84100
References
- UniProt :accession Q9H0F7
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ARL6