UniProt Protein Function: | TMEM231: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling. Belongs to the TMEM231 family. 3 isoforms of the human protein are produced by alternative splicing.Protein type: Membrane protein, multi-pass; Membrane protein, integralChromosomal Location of Human Ortholog: 16q23.1Cellular Component: integral to membraneBiological Process: smoothened signaling pathway; cilium biogenesisDisease: Joubert Syndrome 1; Meckel Syndrome, Type 11; Joubert Syndrome 20 |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013] |
UniProt Code: | Q9H6L2 |
NCBI GenInfo Identifier: | 443287671 |
NCBI Gene ID: | 79583 |
NCBI Accession: | NP_001070884.2 |
UniProt Secondary Accession: | Q9H6L2,Q6P450, Q6UWW5, A0JLU1, A6NDZ6, B3KU85, G5E9E3 |
UniProt Related Accession: | Q9H6L2 |
Molecular Weight: | 22,866 Da |
NCBI Full Name: | transmembrane protein 231 isoform 1 |
NCBI Synonym Full Names: | transmembrane protein 231 |
NCBI Official Symbol: | TMEM231Â Â |
NCBI Official Synonym Symbols: | MKS11; JBTS20; ALYE870; PRO1886Â Â |
NCBI Protein Information: | transmembrane protein 231 |
UniProt Protein Name: | Transmembrane protein 231 |
UniProt Synonym Protein Names: | |
Protein Family: | Transmembrane protein |
UniProt Gene Name: | TMEM231Â Â |
UniProt Entry Name: | TM231_HUMAN |