Tmem67
entrez
329795
canonical
uniprot
Q8BR76
canonical
ensembl
ENSMUSG00000049488
resolver
ensp
ENSMUSP00000103928
resolver
ensp
ENSMUSP00000159959
resolver
enst
ENSMUST00000108293
resolver
enst
ENSMUST00000249863
resolver
genesymbol
Tmem67
resolver
genesymbol_syn
Mks3
resolver
uniprot
A2AJP5
resolver
uniprot
Q78U07
resolver
uniprot_entry
A2AJP5_MOUSE
resolver
uniprot_entry
MKS3_MOUSE
resolver
uniprot_sec
Q78U07
resolver
amino_acid_sequence
MVTRTRPVAAMAVRSRSSSRTGTAYLLLVLCEVSWAQIFSFPFRRPETCDFNQYFDISALSCAPCGANQRRDALGTSCVCLPGYHMISNNGGPSIICKKCPENMKGVTKDGWDCISCPSGLTAEGKCHCPTGHILVERNVSGSLLAQATCELCDESENSFTKANALGTRCVRCEPTFVNTSRSCSCSEPHTLTGGLCFSNTGNFHQRVISTARYGELGMSLNSEWFAKYLQATAAACWTHANLTSCQALGNMCVMNMNSYDSTTLDACRLFHYIFESTAGLISVHSVPFWRQNLPWLFYGDQPGLAPQVLSTTPLPTNFSFKGQNQLKFVAASYDIRGNFIKWQPLEGGVLQLCPDTERRLDAAYAFGTTYQQNCEISLSKLLVDFSSPVFYDVYLEYTDEEQHRYLWPIPVLNLNLQHNKLFVNQDSSSSKWLLTRRIFLVDAVSGRENDLGNQPRVIRVATQISLSIRLVPNTKNGNIYTPLLTIAYSDIDIKNAHSQSAKISFSVKYEMNQGDASVHTDIALGVLGGLAVLSSLLKTAGWKRRVGSPMIDLQTVMKFLLYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPVQEERFVTYVGCAFAMKALQFLHKFISQISIDIFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINPLFQVLTTLFFLEVVGFKNLALMDSSSSLSRNPSDYTAPYSRILRYAVATAIWLVIGIIQVVFFAAFYERFIEDKIRQFVDLCSMSNVSVFLLSHRCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFQIAVSSQMRQHYDRIHETLTRRNGPARLLSSSGSTFEQSIKAYHAMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGHSFSSVLYYGNEATLLIFDLLFFCVVDLACQDFVLASFLTYLQQEIFRFIRNTVGQKNLATKTLVDERFLI
uniprot
proteins
disease_involvement
DISEASE: Note=A spontaneous deletion of TMEM67 cause the bilateral polycystic kidneys (bpck) phenotype, a disease mimicking human Meckel-Gruber syndrome 3. Homozygous bpck/bpck mice typically manifest bilateral nephropathy with swollen abdomens resulting from grossly enlarged polycystic kidneys and die by 3 week of age. Some mice also develop hydrocephalus, usually detectable within a few days of birth (PubMed:19211713). Additionally, bpck/bpck mice exhibit retinal degeneration and tissue disorganization in the eye, and cochlear defects (PubMed:23393159). {ECO:0000269|PubMed:19211713, ECO:0000269|PubMed:23393159}.
uniprot
proteins
function
FUNCTION: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Is a key regulator of stereociliary bundle orientation (PubMed:26035863). Required for epithelial cell branching morphology (PubMed:26035863). Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc). Involved in the negative regulation of canonical Wnt signaling, and activation of the non-canonical cascade stimulated by WNT5A (PubMed:26035863). In non-canonical Wnt signaling, it may act as ROR2 coreceptor (PubMed:26035863). {ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853, ECO:0000269|PubMed:21725307, ECO:0000269|PubMed:26035863}.
uniprot
proteins
mass_dalton
111810
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17185389
uniprot
proteins
pubmed
19211713
uniprot
proteins
pubmed
19515853
uniprot
proteins
pubmed
19815549
uniprot
proteins
pubmed
21725307
uniprot
proteins
pubmed
23393159
uniprot
proteins
pubmed
26035863
uniprot
proteins
sequence_length
992
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
uniprot
proteins
transmembrane_region
TRANSMEM 517..545; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:Q5HYA8"; TRANSMEM 556..587; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:Q5HYA8"; TRANSMEM 601..628; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:Q5HYA8"; TRANSMEM 668..698; /note="Discontinuously helical; Name=4"; /evidence="ECO:0000250|UniProtKB:Q5HYA8"; TRANSMEM 729..768; /note="Discontinuously helical; Name=5"; /evidence="ECO:0000250|UniProtKB:Q5HYA8"; TRANSMEM 924..949; /note="Discontinuously helical; Name=6"; /evidence="ECO:0000250|UniProtKB:Q5HYA8"; TRANSMEM 955..982; /note="Helical; Name=7"; /evidence="ECO:0000250|UniProtKB:Q5HYA8
uniprot
proteins