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9.B.77.1.1
The Meckel (Meckel-Gruber) syndrome type 3 protein, Meckelin (995 aas; 7 TMSs in a 1+5+1 arrangement)

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)
Window Size: Angle:  
Window Size: Angle:  
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