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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. 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).

Accession Number:Q5HYA8
Protein Name:Meckelin
Length:995
Molecular Weight:111731.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:8
Location1 / Topology2 / Orientation3: Cell membrane1 / Multi-pass membrane protein2
Substrate Unknown

Cross database links:

Genevestigator: Q5HYA8
eggNOG: prNOG09637
HEGENOM: HBG356268
RefSeq: NP_001135773.1   
Entrez Gene ID: 91147   
Pfam: PF09773   
OMIM: 607361  phenotype
609884  gene
610688  phenotype
KEGG: hsa:91147   

Gene Ontology

GO:0005813 C:centrosome
GO:0060170 C:cilium membrane
GO:0030659 C:cytoplasmic vesicle membrane
GO:0005789 C:endoplasmic reticulum membrane
GO:0016021 C:integral to membrane
GO:0005932 C:microtubule basal body
GO:0051082 F:unfolded protein binding
GO:0042384 P:cilium assembly
GO:0030433 P:ER-associated protein catabolic process
GO:0010826 P:negative regulation of centrosome duplication

References (11)

[1] “The full-ORF clone resource of the German cDNA consortium.”  Bechtel S.et.al.   17974005
[2] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.”  Dawe H.R.et.al.   17185389
[5] “Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.”  Tammachote R.et.al.   19515853
[6] “Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C.”  Wang M.et.al.   19815549
[7] “Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.”  Dawe H.R.et.al.   19596800
[8] “The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.”  Smith U.M.et.al.   16415887
[9] “The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.”  Baala L.et.al.   17160906
[10] “Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.”  Leitch C.C.et.al.   18327255
[11] “Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?”  Tallila J.et.al.   19466712

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL 
61:	SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD 
121:	LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT 
181:	SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY 
241:	ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG 
301:	DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT 
361:	ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL 
421:	QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN 
481:	GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL 
541:	LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL 
601:	PMPVQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS 
661:	ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP 
721:	PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNISVFLL 
781:	SHKCFGYYIH GRSVHGHADT NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR 
841:	QHYDRIHETL IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL 
901:	LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV DLACQNFILA 
961:	SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI