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Q5HYA8 (MKS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Meckelin
Alternative name(s):
Meckel syndrome type 3 protein
Transmembrane protein 67
Gene names
Name:TMEM67
Synonyms:MKS3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length995 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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). Ref.6 Ref.7 Ref.8 Ref.9

Subunit structure

Part of the tectonic-like complex (also named B9 complex) By similarity. Interacts with DNAJB9, DNAJC10 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity. Interacts (via C-terminus) with FLNA. Ref.6 Ref.8 Ref.9 Ref.10

Subcellular location

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasmcytoskeletoncilium basal body. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme By similarity. Ref.6 Ref.8 Ref.9

Tissue specificity

Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord. Ref.6 Ref.11

Involvement in disease

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.

Meckel syndrome 3 (MKS3) [MIM:607361]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.11 Ref.16

Joubert syndrome 6 (JBTS6) [MIM:610688]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.17 Ref.19

Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Note: The gene represented in this entry may act as a disease modifier. TMEM67 variations may influence the expression of Bardet-Biedl syndrome in patients who have causative mutations in other genes. Heterozygosity for a complex mutation in the TMEM67 gene coding for a protein with 2 in cis changes, and homozygosity for a truncating mutation of the CEP290 gene has been found in a patient with Bardet-Biedl syndrome 14.

COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.18

Nephronophthisis 11 (NPHP11) [MIM:613550]: A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

Sequence caution

The sequence AAH32835.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAG52959.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5HYA8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q5HYA8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: MATRGGAGVA...CHCPIGHILV → MSLSHWPYFR...GMYNIIEEIL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 995995Meckelin
PRO_0000225689

Regions

Transmembrane9 – 2921Helical; Potential
Transmembrane526 – 54621Helical; Potential
Transmembrane570 – 59021Helical; Potential
Transmembrane609 – 62921Helical; Potential
Transmembrane689 – 70921Helical; Potential
Transmembrane734 – 75421Helical; Potential
Transmembrane939 – 95921Helical; Potential

Amino acid modifications

Glycosylation2421N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 136136MATRG…GHILV → MSLSHWPYFRLVLNFRPQVI CLPQPPKVLGYRLEPPHLTL ACTLEGMYNIIEEIL in isoform 2.
VSP_044475
Natural variant541Y → C in MKS3; unknown pathological significance. Ref.16
VAR_062310
Natural variant821P → R in a patient with Joubert syndrome related disorder without clinically apparent liver disease. Ref.18
VAR_063783
Natural variant821P → S in a patient with Joubert syndrome related disorder without clinically apparent liver disease. Ref.18
VAR_063784
Natural variant991K → N in COACHS. Ref.18
VAR_063785
Natural variant1301P → R in COACHS. Ref.15 Ref.18
VAR_063786
Natural variant1721R → Q in COACHS. Ref.18
VAR_063787
Natural variant2181G → A. Ref.13
VAR_062311
Natural variant2421N → T in COACHS. Ref.18
VAR_063788
Natural variant2451S → F in MKS3; unknown pathological significance. Ref.16
VAR_062312
Natural variant2521M → T in MKS3 and COACHS. Ref.16 Ref.17 Ref.18
VAR_062313
Natural variant2571M → V in COACHS. Ref.18
VAR_063789
Natural variant2611D → N. Ref.13
Corresponds to variant rs35793208 [ dbSNP | Ensembl ].
VAR_062314
Natural variant2901W → L in NPHP11. Ref.17
VAR_064185
Natural variant2961W → C in MKS3; unknown pathological significance. Ref.16
VAR_062315
Natural variant3201S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. Ref.13
Corresponds to variant rs111619594 [ dbSNP | Ensembl ].
VAR_062316
Natural variant3491L → S in COACHS. Ref.18
VAR_063790
Natural variant3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. Ref.18 Ref.19
VAR_063791
Natural variant3721T → K in COACHS. Ref.15 Ref.18
VAR_063792
Natural variant3761Q → E in COACHS. Ref.18
VAR_063793
Natural variant3761Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. Ref.6 Ref.11
VAR_025474
Natural variant4371L → V. Ref.13
Corresponds to variant rs35765535 [ dbSNP | Ensembl ].
VAR_062317
Natural variant4401R → Q in MKS3 and COACHS. Ref.15 Ref.16
VAR_062318
Natural variant4411R → C in COACHS. Ref.18
VAR_063794
Natural variant4851P → S in COACHS. Ref.18
VAR_063795
Natural variant5131Y → C in JBTS6, MKS3 and COACHS. Ref.12 Ref.16 Ref.18
VAR_031987
Natural variant5451G → E in JBTS6. Ref.12
VAR_031988
Natural variant5901F → S in COACHS. Ref.15
VAR_063796
Natural variant6041I → V. Ref.1 Ref.2
Corresponds to variant rs3134031 [ dbSNP | Ensembl ].
VAR_025475
Natural variant6151C → R in MKS3, COACHS and NPHP11. Ref.16 Ref.17 Ref.18
VAR_062319
Natural variant6371F → L in COACHS. Ref.18
VAR_063797
Natural variant7281S → G in COACHS. Ref.15
VAR_063798
Natural variant7821H → R in COACHS. Ref.15
VAR_063799
Natural variant8201R → S in COACHS. Ref.15
VAR_063800
Natural variant8211G → R in NPHP11. Ref.17
VAR_064186
Natural variant8211G → S in NPHP11. Ref.17
VAR_064187
Natural variant8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. Ref.15 Ref.17 Ref.18 Ref.19
VAR_063801
Natural variant8411Q → P in COACHS. Ref.18
VAR_063802
Natural variant9421F → C in COACHS. Ref.18
VAR_063803
Natural variant9661L → P in MKS3. Ref.16
VAR_062320

Experimental info

Sequence conflict2511N → S in BAG52507. Ref.1
Sequence conflict3251N → D in BAG52507. Ref.1
Isoform 2:
Sequence conflict181Q → R in BAG52507. Ref.1
Sequence conflict241Q → R in BAG52507. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 48B715BDD610C495

FASTA995111,745
        10         20         30         40         50         60 
MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL 

        70         80         90        100        110        120 
SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD 

       130        140        150        160        170        180 
LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT 

       190        200        210        220        230        240 
SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY 

       250        260        270        280        290        300 
ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG 

       310        320        330        340        350        360 
DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT 

       370        380        390        400        410        420 
ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL 

       430        440        450        460        470        480 
QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN 

       490        500        510        520        530        540 
GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL 

       550        560        570        580        590        600 
LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL 

       610        620        630        640        650        660 
PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS 

       670        680        690        700        710        720 
ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP 

       730        740        750        760        770        780 
PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNISVFLL 

       790        800        810        820        830        840 
SHKCFGYYIH GRSVHGHADT NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR 

       850        860        870        880        890        900 
QHYDRIHETL IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL 

       910        920        930        940        950        960 
LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV DLACQNFILA 

       970        980        990 
SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI 

« Hide

Isoform 2 [UniParc].

Checksum: B7E458801DEA5E2C
Show »

FASTA914103,590

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-995 (ISOFORM 1), VARIANT VAL-604.
Tissue: Corpus callosum.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-604.
Tissue: Testis.
[3]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-995 (ISOFORM 1).
Tissue: Testis.
[6]"The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."
Dawe H.R., Smith U.M., Cullinane A.R., Gerrelli D., Cox P., Badano J.L., Blair-Reid S., Sriram N., Katsanis N., Attie-Bitach T., Afford S.C., Copp A.J., Kelly D.A., Gull K., Johnson C.A.
Hum. Mol. Genet. 16:173-186(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT MKS3 PRO-376, FUNCTION, INTERACTION WITH MKS1.
[7]"Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."
Tammachote R., Hommerding C.J., Sinders R.M., Miller C.A., Czarnecki P.G., Leightner A.C., Salisbury J.L., Ward C.J., Torres V.E., Gattone V.H. II, Harris P.C.
Hum. Mol. Genet. 18:3311-3323(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C."
Wang M., Bridges J.P., Na C.L., Xu Y., Weaver T.E.
J. Biol. Chem. 284:33377-33383(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TOPOLOGY, FUNCTION, INTERACTION WITH DNAJB9; DNAJC10 AND SFTPC.
[9]"Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton."
Dawe H.R., Adams M., Wheway G., Szymanska K., Logan C.V., Noegel A.A., Gull K., Johnson C.A.
J. Cell Sci. 122:2716-2726(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SYNE2, FUNCTION.
[10]"A meckelin-filamin A interaction mediates ciliogenesis."
Adams M., Simms R.J., Abdelhamed Z., Dawe H.R., Szymanska K., Logan C.V., Wheway G., Pitt E., Gull K., Knowles M.A., Blair E., Cross S.H., Sayer J.A., Johnson C.A.
Hum. Mol. Genet. 21:1272-1286(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FLNA.
[11]"The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat."
Smith U.M., Consugar M., Tee L.J., McKee B.M., Maina E.N., Whelan S., Morgan N.V., Goranson E., Gissen P., Lilliquist S., Aligianis I.A., Ward C.J., Pasha S., Punyashthiti R., Malik Sharif S., Batman P.A., Bennett C.P., Woods C.G. expand/collapse author list , McKeown C., Bucourt M., Miller C.A., Cox P., Algazali L., Trembath R.C., Torres V.E., Attie-Bitach T., Kelly D.A., Maher E.R., Gattone V.H., Harris P.C., Johnson C.A.
Nat. Genet. 38:191-196(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MKS3 PRO-376, TISSUE SPECIFICITY.
[12]"The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome."
Baala L., Romano S., Khaddour R., Saunier S., Smith U.M., Audollent S., Ozilou C., Faivre L., Laurent N., Foliguet B., Munnich A., Lyonnet S., Salomon R., Encha-Razavi F., Gubler M.-C., Boddaert N., de Lonlay P., Johnson C.A. expand/collapse author list , Vekemans M., Antignac C., Attie-Bitach T.
Am. J. Hum. Genet. 80:186-194(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS6 CYS-513 AND GLU-545.
[13]"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."
Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E., Dollfus H., Beales P.L., Badano J.L., Katsanis N.
Nat. Genet. 40:443-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-218; ASN-261; CYS-320 AND VAL-437, INVOLVEMENT IN BARDET-BIEDL SYNDROME.
[14]Erratum
Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E., Dollfus H., Beales P.L., Badano J.L., Katsanis N.
Nat. Genet. 40:927-927(2008)
[15]"MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement."
Brancati F., Iannicelli M., Travaglini L., Mazzotta A., Bertini E., Boltshauser E., D'Arrigo S., Emma F., Fazzi E., Gallizzi R., Gentile M., Loncarevic D., Mejaski-Bosnjak V., Pantaleoni C., Rigoli L., Salpietro C.D., Signorini S., Stringini G.R. expand/collapse author list , Verloes A., Zabloka D., Dallapiccola B., Gleeson J.G., Valente E.M.
Hum. Mutat. 30:E432-E442(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS COACHS ARG-130; LYS-372; GLN-440; SER-590; GLY-728; ARG-782; SER-820 AND THR-833.
[16]"Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?"
Tallila J., Salonen R., Kohlschmidt N., Peltonen L., Kestilae M.
Hum. Mutat. 30:E813-E830(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MKS3 CYS-54; PHE-245; THR-252; CYS-296 GLN-440; CYS-513; ARG-615 AND PRO-966.
[17]"Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)."
Otto E.A., Tory K., Attanasio M., Zhou W., Chaki M., Paruchuri Y., Wise E.L., Wolf M.T.F., Utsch B., Becker C., Nuernberg G., Nuernberg P., Nayir A., Saunier S., Antignac C., Hildebrandt F.
J. Med. Genet. 46:663-670(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NPHP11 LEU-290; ARG-615; SER-821 AND ARG-821, VARIANTS JBTS6 THR-252; ARG-615; ARG-821 AND THR-833.
[18]"Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)."
Doherty D., Parisi M.A., Finn L.S., Gunay-Aygun M., Al-Mateen M., Bates D., Clericuzio C., Demir H., Dorschner M., van Essen A.J., Gahl W.A., Gentile M., Gorden N.T., Hikida A., Knutzen D., Ozyurek H., Phelps I., Rosenthal P. expand/collapse author list , Verloes A., Weigand H., Chance P.F., Dobyns W.B., Glass I.A.
J. Med. Genet. 47:8-21(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS COACHS ASN-99; ARG-130; GLN-172; THR-242; THR-252; VAL-257; SER-349; LEU-358; LYS-372; GLU-376; CYS-441; SER-485; CYS-513; ARG-615; LEU-637; THR-833; PRO-841 AND CYS-942, VARIANTS ARG-82 AND SER-82.
[19]"Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics."
Dafinger C., Liebau M.C., Elsayed S.M., Hellenbroich Y., Boltshauser E., Korenke G.C., Fabretti F., Janecke A.R., Ebermann I., Nurnberg G., Nurnberg P., Zentgraf H., Koerber F., Addicks K., Elsobky E., Benzing T., Schermer B., Bolz H.J.
J. Clin. Invest. 121:2662-2667(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS JBTS6 LEU-358 AND THR-833.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK092244 mRNA. Translation: BAG52507.1.
AK094935 mRNA. Translation: BAG52959.1. Different initiation.
BX648768 mRNA. Translation: CAI45999.1.
AC010834 Genomic DNA. No translation available.
CH471060 Genomic DNA. Translation: EAW91703.1.
BC032835 mRNA. Translation: AAH32835.1. Different initiation.
RefSeqNP_001135773.1. NM_001142301.1.
NP_714915.3. NM_153704.5.
UniGeneHs.116240.

3D structure databases

ProteinModelPortalQ5HYA8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124799. 4 interactions.
STRING9606.ENSP00000389998.

Protein family/group databases

TCDB9.B.77.1.1. the meckel syndrome protein (meckelin) family.

PTM databases

PhosphoSiteQ5HYA8.

Polymorphism databases

DMDM74707893.

Proteomic databases

PaxDbQ5HYA8.
PRIDEQ5HYA8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000323130; ENSP00000314488; ENSG00000164953.
ENST00000409623; ENSP00000386966; ENSG00000164953. [Q5HYA8-3]
ENST00000453321; ENSP00000389998; ENSG00000164953. [Q5HYA8-1]
GeneID91147.
KEGGhsa:91147.
UCSCuc003yga.4. human. [Q5HYA8-3]
uc011lgk.2. human. [Q5HYA8-1]

Organism-specific databases

CTD91147.
GeneCardsGC08P094837.
H-InvDBHIX0007648.
HGNCHGNC:28396. TMEM67.
HPAHPA039940.
MIM209900. phenotype.
216360. phenotype.
607361. phenotype.
609884. gene.
610688. phenotype.
613550. phenotype.
neXtProtNX_Q5HYA8.
Orphanet475. Joubert syndrome.
1454. Joubert syndrome with hepatic defect.
564. Meckel syndrome.
84081. Senior-Boichis syndrome.
PharmGKBPA142670780.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG277231.
HOGENOMHOG000231576.
HOVERGENHBG080334.
InParanoidQ5HYA8.
OMADISALSC.
OrthoDBEOG7PCJGG.
TreeFamTF317053.

Gene expression databases

ArrayExpressQ5HYA8.
BgeeQ5HYA8.
CleanExHS_TMEM67.
GenevestigatorQ5HYA8.

Family and domain databases

InterProIPR009030. Growth_fac_rcpt_N_dom.
IPR019170. Meckelin.
[Graphical view]
PANTHERPTHR21274:SF0. PTHR21274:SF0. 1 hit.
PfamPF09773. Meckelin. 1 hit.
[Graphical view]
SUPFAMSSF57184. SSF57184. 1 hit.
ProtoNetSearch...

Other

GeneWikiTMEM67.
GenomeRNAi91147.
NextBio77120.
PROQ5HYA8.
SOURCESearch...

Entry information

Entry nameMKS3_HUMAN
AccessionPrimary (citable) accession number: Q5HYA8
Secondary accession number(s): B3KRU5 expand/collapse secondary AC list , B3KT47, G5E9H2, Q3ZCX3, Q7Z5T8, Q8IZ06
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: January 11, 2011
Last modified: March 19, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM