Tmem107
entrez
66910
canonical
uniprot
Q9CPV0
canonical
ensembl
ENSMUSG00000020895
resolver
ensp
ENSMUSP00000075363
resolver
ensp
ENSMUSP00000091624
resolver
genesymbol
Tmem107
resolver
uniprot
B2RPS9
resolver
uniprot
Q5SUQ6
resolver
uniprot
Q9CZ71
resolver
uniprot_entry
TM107_MOUSE
resolver
uniprot_sec
B2RPS9
resolver
uniprot_sec
Q5SUQ6
resolver
uniprot_sec
Q9CZ71
resolver
amino_acid_sequence
MGRISGLVPSRFLTLLAHLVVVITLFWSRESNIQACLPLKFTPEEYEKQDNQLVAALCLTLGLFAVELAGFLSGVSMFNSTQSLLSIAAHCSASVALSFFVFERWECTTYWYIFTFCSAFPAVTETALFIAVFGLKKKPF
uniprot
proteins
disease_involvement
DISEASE: Note=Defect in TMEM107 is the cause of the schlei phenotype. Schlei mice display Shh-related defects including, preaxial polydactyly, exencephaly, and disrupted ventral neural tube patterning. Mice shown decreased numbers of cilia in several developing tissues and organs. However, nodal cilia appear normal in schlei mutants and subsequently, no left-right defects are observed. {ECO:0000269|PubMed:22698544}.
uniprot
proteins
function
FUNCTION: Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types. During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474, PubMed:26595381). {ECO:0000269|PubMed:22698544, ECO:0000269|PubMed:26518474, ECO:0000269|PubMed:26595381}.
uniprot
proteins
mass_dalton
15593
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
22698544
uniprot
proteins
pubmed
26518474
uniprot
proteins
pubmed
26595381
uniprot
proteins
sequence_length
140
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269|PubMed:26518474}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 53..73; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 83..103; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 113..133; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins