TMEM138
entrez
51524
canonical
uniprot
Q9NPI0
canonical
ensembl
ENSG00000149483
resolver
ensp
ENSP00000278826
resolver
ensp
ENSP00000371206
resolver
ensp
ENSP00000508581
resolver
ensp
ENSP00000508970
resolver
ensp
ENSP00000509146
resolver
ensp
ENSP00000509310
resolver
ensp
ENSP00000677642
resolver
ensp
ENSP00000798792
resolver
enst
ENST00000381787
resolver
enst
ENST00000451389
resolver
enst
ENST00000691720
resolver
enst
ENST00000693557
resolver
genesymbol
TMEM138
resolver
hgnc
HGNC:26944
resolver
uniprot
A0A8I5KS61
resolver
uniprot
A0A8I5KXM0
resolver
uniprot
A0A8I5QKQ3
resolver
uniprot
A6NGA7
resolver
uniprot
B4E044
resolver
uniprot
J3QSZ6
resolver
uniprot
Q5JPE1
resolver
uniprot_entry
A0A8I5KS61_HUMAN
resolver
uniprot_entry
A0A8I5KXM0_HUMAN
resolver
uniprot_entry
A0A8I5QKQ3_HUMAN
resolver
uniprot_entry
J3QSZ6_HUMAN
resolver
uniprot_entry
TM138_HUMAN
resolver
uniprot_sec
A6NGA7
resolver
uniprot_sec
B4E044
resolver
uniprot_sec
Q5JPE1
resolver
amino_acid_sequence
MLQTSNYSLVLSLQFLLLSYDLFVNSFSELLQKTPVIQLVLFIIQDIAVLFNIIIIFLMFFNTFVFQAGLVNLLFHKFKGTIILTAVYFALSISLHVWVMNLRWKNSNSFIWTDGLQMLFVFQRLAAVLYCYFYKRTAVRLGDPHFYQDSLWLRKEFMQVRR
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 16 (JBTS16) [MIM:614465]: An autosomal recessive disorder characterized by oculomotor apraxia, variable coloboma, and rare kidney involvement. Neuroradiologically, it is characterized by 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 polydactyly. {ECO:0000269|PubMed:22282472}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for ciliogenesis. {ECO:0000269|PubMed:22282472}.
uniprot
proteins
mass_dalton
19262
uniprot
proteins
protein_family
TMEM138 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22282472
uniprot
proteins
sequence_length
162
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Vacuole membrane {ECO:0000269|PubMed:22282472}; Multi-pass membrane protein {ECO:0000269|PubMed:22282472}. Cell projection, cilium {ECO:0000269|PubMed:22282472}. Note=Localizes to vesicles en route to the base of cilium.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 41..61; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins