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very-large G protein-coupled receptor; monogenic audiogenic seizure susceptibility 1; Usher syndrome type-2C protein; G-protein coupled receptor 98 (VLGR1; MASS1, GPR98, KIAA0686, VLGR1)
Function:
- development of the central nervous system (putative
- interacts with WHRN
Alternative splicing: named isoforms=3
Expression: expressed at low levels in adult tissues.
Pathology:
1) defects in MASS1 associated with Usher syndrome type 2C
2) defects in MASS1 associated with familial febrile seizures 4
Related
GPR98 gene mutation
Usher syndrome type IIC
General
glycoprotein
G-protein coupled receptor; serpentine receptor
Properties
SIZE: MW = 693 kD
entity length = 6307 aa
COMPARTMENT: cellular membrane
MOTIF: exoplasmic domain {30-5909}
MOTIF: CALX-BETA {77-3171} (22)
EAR {3189-3535} (6)
CALX-BETA {3585-5469} (12)
GPS {5854-5903}
transmembrane domain {5910-5930}
cytoplasmic loop {5931-5940}
transmembrane domain {5941-5961}
exoplasmic loop {5962-5980}
transmembrane domain {5981-6001}
cytoplasmic loop {6002-6011}
transmembrane domain {6012-6032}
exoplasmic loop {6033-6060}
transmembrane domain {6061-6081}
cytoplasmic loop {6082-6105}
transmembrane domain {6106-6126}
exoplasmic loop {6127-6134}
transmembrane domain {6135-6155}
cytoplasmic domain {6156-6307}
Database Correlations
OMIM correlations
MORBIDMAP 602851
UniProt Q8WXG9
PFAM correlations
References
- OMIM :accession 602851
- UniProt :accession Q8WXG9