Monogenic audiogenic seizure susceptibility protein 1 homolog

GWB-5A8242

Receptor that may have an important role in the development of the central nervous system.

Membrane; multi-pass membrane protein.

Defects in MASS1 are the cause of Usher syndrome type IIC (USH2C) [MIM:605472]. Usher syndrome is an autosomal recessive condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Different subtypes are differentiated on the basis of the severity of hearing loss and the presence or absence of vestibular abnormalities. USH2C is characterized by moderate to severe deafness with no vestibular dysfunction.

By far is the largest known cell surface protein.

Contains 35 Calx-beta domains.

Contains 1 GPS domain. [1] McMillan D. R. Kayes-Wandover K. M. Richardson J. A. and White P. C. et al. Very Large G Protein-coupled Receptor-1 the Largest Known Cell Surface Protein Is Highly Expressed in the Developing Central Nervous System[2] McMillan D. R. Kayes-Wandover K. M. and White P. C. et al. Direct Submission[3] Nikkila H. McMillan D. R. Nunez B. S. Pascoe L. Curnow K. M. White P. C. Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. [4] McMillan D. R. Kayes-Wandover K. M. Richardson J. A. White P. C. Very large G protein-coupled receptor-1 the largest known cell surface protein is highly expressed in the developing central nervous system. [5] Wiemann S. Weil B. Wellenreuther R. Gassenhuber J. Glassl S. Ansorge W. Boecher M. Bloecker H. Bauersachs S. Blum H. et al. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. [6] Ishikawa K. Nagase T. Suyama M. Miyajima N. Tanaka A. Kotani H. Nomura N. Ohara O. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. [7] Nakajima D. Okazaki N. Yamakawa H. Kikuno R. Ohara O. Nagase T. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. [8] van Wijk E. van der Zwaag B. Peters T. Zimmermann U. Te Brinke H. Kersten F. F. J. Maerker T. Aller E. Hoefsloot L. H. Cremers C. W. R. J. et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. [9] Nakayama J. Fu Y. H. Clark A. M. Nakahara S. Hamano K. Iwasaki N. Matsui A. Arinami T. Ptacek L. J. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. [10] Weston M. D. Luijendijk M. W. J. Humphrey K. D. Moeller C. Kimberling W. J. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.