TMEM107
entrez
84314
canonical
uniprot
Q6UX40
canonical
ensembl
ENSG00000179029
resolver
ensp
ENSP00000314116
resolver
ensp
ENSP00000389420
resolver
ensp
ENSP00000402732
resolver
ensp
ENSP00000436674
resolver
ensp
ENSP00000659824
resolver
enst
ENST00000431792
resolver
genesymbol
TMEM107
resolver
hgnc
HGNC:28128
resolver
uniprot
A0PJV7
resolver
uniprot
E9PIH0
resolver
uniprot
Q6NSE3
resolver
uniprot
Q6ZRX9
resolver
uniprot
Q96T82
resolver
uniprot_entry
E9PIH0_HUMAN
resolver
uniprot_entry
TM107_HUMAN
resolver
uniprot_sec
A0PJV7
resolver
uniprot_sec
Q6NSE3
resolver
uniprot_sec
Q6ZRX9
resolver
uniprot_sec
Q96T82
resolver
amino_acid_sequence
MGRVSGLVPSRFLTLLAHLVVVITLFWSRDSNIQACLPLTFTPEEYDKQDIQLVAALSVTLGLFAVELAGFLSGVSMFNSTQSLISIGAHCSASVALSFFIFERWECTTYWYIFVFCSALPAVTEMALFVTVFGLKKKPF
uniprot
proteins
disease_involvement
DISEASE: Meckel syndrome 13 (MKS13) [MIM:617562]: A form of Meckel syndrome, 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:26123494, ECO:0000269|PubMed:26595381}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Orofaciodigital syndrome 16 (OFD16) [MIM:617563]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive. {ECO:0000269|PubMed:26518474, ECO:0000269|PubMed:26595381}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (By similarity). During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins (PubMed:26518474). {ECO:0000250|UniProtKB:Q9CPV0, ECO:0000269|PubMed:26518474}.
uniprot
proteins
mass_dalton
15503
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
26123494
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 {ECO:0000269|PubMed:26595381}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000269|PubMed:26595381}.
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