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Tbio
TMEM67
Meckelin

Protein Summary
Description
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). The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000409623
  • ENSP00000386966
  • ENSG00000164953
  • ENST00000453321
  • ENSP00000389998

Symbol
  • MKS3
  • MKS3
  • JBTS6
  • NPHP11
  • TNEM67
  • MECKELIN
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.92
phenotype
0.87
virus perturbation
0.76
cellular component
0.74
cell line
0.66


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 33.33   (req: < 5)
View Publications
Gene RIFs: 20   (req: <= 3)
View Gene RIFs
Antibodies: 78   (req: <= 50)
View Antibodies
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 33.33   (req: >= 5)
Gene RIFs: 20   (req: > 3)
Antibodies: 78   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
View GO Terms
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Pathways (6)
Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Anchoring of the basal body to the plasma membrane
97 targets
R-HSA-5620912
Reactome
Cilium Assembly
187 targets
R-HSA-5617833
Reactome
Organelle biogenesis and maintenance
276 targets
R-HSA-1852241
Name
Explore in Pharos
Explore in Source
Anchoring of the basal body to the plasma membrane
97 targets
R-HSA-5620912
Cilium Assembly
187 targets
R-HSA-5617833
Organelle biogenesis and maintenance
276 targets
R-HSA-1852241
Gene Ontology Terms (13)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
filamin binding
Inferred from Physical Interaction (IPI)
UniProtKB
unfolded protein binding
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (211)
1 – 10 of 211
CD27
Tbio
Novelty: 0.00109406
p_int: 0.999944553
p_ni: 0.000055447
Data Source: BioPlex
SLC22A9
Tbio
Family: Transporter
Novelty: 0.02803169
p_int: 0.999802583
p_ni: 0.000197417
Data Source: BioPlex
ATP1B4
Tdark
Family: Transporter
Novelty: 0.01060988
p_int: 0.999464078
p_ni: 0.000535922
Data Source: BioPlex
PATE1
Tbio
Novelty: 0.03158921
p_int: 0.998259325
p_ni: 0.001740675
Data Source: BioPlex
FAM19A2
Tdark
Novelty: 0.31987814
p_int: 0.997345581
p_ni: 0.002654412
p_wrong: 7e-9
Data Source: BioPlex
LYZL2
Tdark
Family: Enzyme
Novelty: 1.38461538
p_int: 0.997337728
p_ni: 0.002661085
p_wrong: 0.000001187
Data Source: BioPlex
SCGB1D1
Tbio
Novelty: 0.00676385
p_int: 0.996702411
p_ni: 0.00329758
p_wrong: 9e-9
Data Source: BioPlex
UPK2
Tbio
Novelty: 0.0107781
p_int: 0.988783793
p_ni: 0.011212011
p_wrong: 0.000004196
Data Source: BioPlex
HYOU1
Tbio
Novelty: 0.00973194
p_int: 0.988024287
p_ni: 0.011975679
p_wrong: 3.4e-8
Data Source: BioPlex
TMPRSS11B
Tdark
Family: Enzyme
Novelty: 1.71428571
p_int: 0.979249706
p_ni: 0.020747087
p_wrong: 0.000003207
Data Source: BioPlex
Publication Statistics
PubMed Score  33.33

PubMed score by year
PubTator Score  35.56

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQR
1-70
QDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDI
70-140
NGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRIS
140-210
AARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAG
210-280
LSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLE
280-350
GGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNL
350-420
QHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITI
420-490
AYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTV
490-560
VKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLIS
560-630
QITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLE
630-700
VVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLC
700-770
SMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMR
770-840
QHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEF
840-910
MEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQ
910-980
KNLASKTLVDQRFLI
980-995
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI