TMEM231
entrez
79583
canonical
uniprot
Q9H6L2
canonical
ensembl
ENSG00000205084
resolver
ensp
ENSP00000258173
resolver
ensp
ENSP00000476267
resolver
genesymbol
TMEM231
resolver
hgnc
HGNC:37234
resolver
uniprot
A0JLU1
resolver
uniprot
A6NDZ6
resolver
uniprot
B3KU85
resolver
uniprot
G5E9E3
resolver
uniprot
Q6P450
resolver
uniprot
Q6UWW5
resolver
uniprot_entry
TM231_HUMAN
resolver
uniprot_sec
A0JLU1
resolver
uniprot_sec
A6NDZ6
resolver
uniprot_sec
B3KU85
resolver
uniprot_sec
G5E9E3
resolver
uniprot_sec
Q6P450
resolver
uniprot_sec
Q6UWW5
resolver
amino_acid_sequence
MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 20 (JBTS20) [MIM:614970]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:23012439, ECO:0000269|PubMed:26477546}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Meckel syndrome 11 (MKS11) [MIM:615397]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269|PubMed:23349226}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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 (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
36059
uniprot
proteins
protein_family
TMEM231 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
23012439
uniprot
proteins
pubmed
23349226
uniprot
proteins
pubmed
26477546
uniprot
proteins
pubmed
26595381
uniprot
proteins
sequence_length
316
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Localizes to the transition zone of primary cilia; SEPT2 is required for localization to the transition zone. {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..43; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 262..282; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins