Names & Taxonomy
- Uniprot ID:
- Q5HYA8
- Entry Name:
- MKS3_HUMAN
- Status:
- reviewed
- Protein Names:
- Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67)
- Gene Names:
- TMEM67 MKS3
- Gene Names Primary:
- TMEM67
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 995
- Sequence:
- MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Cell membrane; Multi-pass membrane protein. 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.
Function
- Function:
- Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
- Gene Ontology Go:
- centrosome
ciliary membrane
cytoplasmic vesicle membrane
endoplasmic reticulum membrane
integral component of membrane
TCTN-B9D complex
filamin binding
unfolded protein binding
cilium assembly
cilium morphogenesis
ER-associated ubiquitin-dependent protein catabolic process
negative regulation of centrosome duplication
organelle organization - Gene Ontology Biological Process:
- cilium assembly
cilium morphogenesis
ER-associated ubiquitin-dependent protein catabolic process
negative regulation of centrosome duplication
organelle organization - Gene Ontology Molecular Function:
- filamin binding
unfolded protein binding - Gene Ontology Cellular Component:
- centrosome
ciliary membrane
cytoplasmic vesicle membrane
endoplasmic reticulum membrane
integral component of membrane
TCTN-B9D complex - Keywords:
- Alternative splicing
Bardet-Biedl syndrome
Cell membrane
Cell projection
Ciliopathy
Cilium
Cilium biogenesis/degradation
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation
Endoplasmic reticulum
Glycoprotein
Joubert syndrome
Meckel syndrome
Membrane
Mental retardation
Nephronophthisis
Obesity
Polymorphism
Reference proteome
Transmembrane
Transmembrane helix