| UniProt ID | MKS3_HUMAN | |
|---|---|---|
| UniProt AC | Q5HYA8 | |
| Protein Name | Meckelin | |
| Gene Name | TMEM67 | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 995 | |
| Subcellular Localization |
Cell membrane Multi-pass membrane protein . Endoplasmic reticulum membrane Multi-pass membrane protein . Cell projection, cilium . Cytoplasm, cytoskeleton, cilium basal body . Localizes at the transition zone, a region between the basal body and |
|
| Protein 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).. | |
| Protein Sequence | MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
|
|
||
* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 18 | Phosphorylation | MAVWSLLSARAVTAF HHHHHHHHHHHHHHH | 22.47 | 24719451 | |
| 98 | Ubiquitination | GGPAIICKKCPENMK CCEEEEECCCCCCCC | 47.18 | - | |
| 99 | Ubiquitination | GPAIICKKCPENMKG CEEEEECCCCCCCCC | 51.08 | - | |
| 214 | Phosphorylation | RRISAARYGEVGMSL EEEEECHHCCCCCCC | 16.95 | 25907765 | |
| 220 | Phosphorylation | RYGEVGMSLTSEWFA HHCCCCCCCCHHHHH | 23.67 | 25907765 | |
| 222 | Phosphorylation | GEVGMSLTSEWFAKY CCCCCCCCHHHHHHH | 19.79 | 25907765 | |
| 223 | Phosphorylation | EVGMSLTSEWFAKYL CCCCCCCHHHHHHHH | 37.82 | 25907765 | |
| 242 | N-linked_Glycosylation | AACWVYANLTSCQAL HHHHHHCCCHHCHHH | 26.60 | UniProtKB CARBOHYD | |
| 320 | Phosphorylation | TSLPTNFSFKGENQN CCCCCCCCCCCCCCC | 28.28 | 24719451 | |
| 337 | Phosphorylation | LKFVAASYDIRGNFL EEEEEEEEECCCCEE | 15.63 | - | |
| 435 | Ubiquitination | NQDSNSGKWLLTRRI ECCCCCCCEEEEEEE | 34.19 | - | |
| 449 | Phosphorylation | IFLVDAVSGRENDLG EEEEECCCCCCCCCC | 33.58 | - | |
| 466 | Phosphorylation | PRVIRVATQISLSVH CCHHEEEEEEEEEEE | 24.47 | 30175587 | |
| 492 | Phosphorylation | PPLITIAYSDIDIKD CCEEEEEEECCCCCC | 11.74 | 30175587 | |
| 539 | Phosphorylation | GGLAVLASLLKTAGW HHHHHHHHHHHHCCH | 30.03 | 24719451 | |
| 543 | Phosphorylation | VLASLLKTAGWKRRI HHHHHHHHCCHHHHC | 30.30 | - | |
| 569 | Ubiquitination | KFLVYYAGDLANVFF HHHHHHHHCHHHEEE | 17.84 | 29901268 | |
| 650 (in isoform 1) | Ubiquitination | - | 54.06 | 21906983 | |
| 650 | Ubiquitination | RPKGKVLKAVEGEGG CCCCEEEEEEECCCC | 54.06 | 29901268 | |
| 666 | Phosphorylation | RSATVPVSIWRTYFV CEEECEEEEEEEEEE | 15.46 | 24719451 | |
| 810 (in isoform 1) | Ubiquitination | - | 43.09 | 21906983 | |
| 810 | Ubiquitination | EEMNMNLKREAENLC HHHHHHHHHHHHHHH | 43.09 | 2190698 | |
| 818 | Ubiquitination | REAENLCSQRGLVPN HHHHHHHHHCCCCCC | 26.52 | 29967540 | |
| 861 | Phosphorylation | NGPARLLSSSASTFE CCCHHHHCCCCCHHH | 27.17 | 28857561 | |
| 863 | Phosphorylation | PARLLSSSASTFEQS CHHHHCCCCCHHHHH | 23.90 | 26471730 | |
| 865 | Phosphorylation | RLLSSSASTFEQSIK HHHCCCCCHHHHHHH | 35.26 | 26471730 | |
| 866 | Phosphorylation | LLSSSASTFEQSIKA HHCCCCCHHHHHHHH | 30.79 | 26471730 | |
| 870 | Phosphorylation | SASTFEQSIKAYHMM CCCHHHHHHHHHHHH | 20.89 | 30576142 | |
| 874 | Phosphorylation | FEQSIKAYHMMNKFL HHHHHHHHHHHHHHH | 5.80 | 30576142 | |
| 899 | Ubiquitination | MDYFIKDKLLLERIL HCHHHHHHHHHHHHH | 35.71 | 29967540 | |
| 905 | Ubiquitination | DKLLLERILGMEFME HHHHHHHHHCCCCCC | 2.59 | 29967540 | |
| 986 | Ubiquitination | GQKNLASKTLVDQRF CCCCCCCCCCCCCCC | 40.03 | 29967540 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of MKS3_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of MKS3_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of MKS3_HUMAN !! | ||||||
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| H00261 | Meckel syndrome (MKS); Meckel-Gruber syndrome | |||||
| H00530 | Joubert syndrome | |||||
| H00537 | Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthis | |||||
| H01001 | COACH syndrome | |||||
| OMIM Disease | ||||||
| Note=TMEM67 mutations result in ciliary dysfunction leading to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. | ||||||
| 607361 | ||||||
| 610688 | Joubert syndrome 6 (JBTS6) | |||||
| 209900 | Bardet-Biedl syndrome (BBS) | |||||
| 216360 | COACH syndrome (COACHS) | |||||
| 613550 | Nephronophthisis 11 (NPHP11) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
loading...
