TCDB is operated by the Saier Lab Bioinformatics Group
TCIDNameDomainKingdom/PhylumProtein(s)
9.B.77.1.1









The Meckel (Meckel-Gruber) syndrome type 3 protein (Meckelin, TMEM67, MKS3) (995 aas; 7 TMSs in a 1+5+1 arrangement). Human ciliopathies are in a class of multi-organ genetic disorders caused by defects in proteins expressed at the primary cilium, an organelle present on the cell surface of many cell types (Dawe et al. 2007). Dozens of causative genes for ciliopathies have been identified, and many of them are known to cause allelic disease. The TMEM67 gene in mutant form is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3) (Tkemaladze et al. 2017). It is required for ciliary structure and function as part of the tectonic-like complex  (TC# 8.A.170.1.1) which is required for tissue-specific ciliogenesis; it may regulate ciliary membrane composition.

 

 

Eukaryota
Metazoa
Meckelin of Homo sapiens
(Q5HYA8)
9.B.77.1.2









Mechelin of 738 aas and at least 5 TMSs in a 1 + 2 + 2 TMS arrangement.

Eukaryota
Viridiplantae
Mechelin of Tetrabaena socialis
9.B.77.1.3









Meckelin of 669 aas and 5 TMSs in a 3 + 2 TMS arrangement.

Eukaryota
Metazoa
Meckelin of Eumeta japonica
9.B.77.1.4









Uncharacterized protein of 285 aas and 1 N-terminal TMS.  (may be a fragment lacking the C-terminal membrane-embedded part of its homologues.

Eukaryota
Metazoa
UP of Haemonchus placei
9.B.77.1.5









Uncharacterized protein of 427 aas, possibly with 4 TMSs in a 3 + 1 TMS arrangement.

Eukaryota
Fungi
UP of Rhizoclosmatium globosum
9.B.77.1.6









Uncharacterized protein of 473 aas and 1 N-terminal TMS plus other potential putative TMSs.

Eukaryota
Euglenozoa
UP of Trypanosoma cruzi