Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q5HYA8

- MKS3_HUMAN

UniProt

Q5HYA8 - MKS3_HUMAN

Protein

Meckelin

Gene

TMEM67

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    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).By similarity4 Publications

    GO - Molecular functioni

    1. filamin binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. unfolded protein binding Source: UniProtKB

    GO - Biological processi

    1. cilium assembly Source: UniProtKB
    2. cilium morphogenesis Source: UniProtKB
    3. ER-associated ubiquitin-dependent protein catabolic process Source: UniProtKB
    4. negative regulation of centrosome duplication Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Protein family/group databases

    TCDBi9.B.77.1.1. the meckel syndrome protein (meckelin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Meckelin
    Alternative name(s):
    Meckel syndrome type 3 protein
    Transmembrane protein 67
    Gene namesi
    Name:TMEM67
    Synonyms:MKS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:28396. TMEM67.

    Subcellular locationi

    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

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. ciliary membrane Source: UniProtKB
    3. cytoplasmic vesicle membrane Source: UniProtKB
    4. endoplasmic reticulum membrane Source: UniProtKB
    5. integral component of membrane Source: UniProtKB-KW
    6. TCTN-B9D complex Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541Y → C in MKS3; unknown pathological significance. 1 Publication
    VAR_062310
    Natural varianti245 – 2451S → F in MKS3; unknown pathological significance. 1 Publication
    VAR_062312
    Natural varianti252 – 2521M → T in MKS3 and COACHS. 3 Publications
    VAR_062313
    Natural varianti296 – 2961W → C in MKS3; unknown pathological significance.
    VAR_062315
    Natural varianti376 – 3761Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 1 Publication
    VAR_025474
    Natural varianti440 – 4401R → Q in MKS3 and COACHS. 2 Publications
    VAR_062318
    Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
    VAR_031987
    Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
    VAR_062319
    Natural varianti966 – 9661L → P in MKS3. 1 Publication
    VAR_062320
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti358 – 3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications
    VAR_063791
    Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
    VAR_031987
    Natural varianti545 – 5451G → E in JBTS6. 1 Publication
    VAR_031988
    Natural varianti833 – 8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 Publications
    VAR_063801
    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.1 Publication
    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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti320 – 3201S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. 1 Publication
    Corresponds to variant rs111619594 [ dbSNP | Ensembl ].
    VAR_062316
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti99 – 991K → N in COACHS. 1 Publication
    VAR_063785
    Natural varianti130 – 1301P → R in COACHS. 2 Publications
    VAR_063786
    Natural varianti172 – 1721R → Q in COACHS. 1 Publication
    VAR_063787
    Natural varianti242 – 2421N → T in COACHS. 1 Publication
    VAR_063788
    Natural varianti252 – 2521M → T in MKS3 and COACHS. 3 Publications
    VAR_062313
    Natural varianti257 – 2571M → V in COACHS. 1 Publication
    VAR_063789
    Natural varianti349 – 3491L → S in COACHS. 1 Publication
    VAR_063790
    Natural varianti358 – 3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications
    VAR_063791
    Natural varianti372 – 3721T → K in COACHS. 2 Publications
    VAR_063792
    Natural varianti376 – 3761Q → E in COACHS. 1 Publication
    VAR_063793
    Natural varianti440 – 4401R → Q in MKS3 and COACHS. 2 Publications
    VAR_062318
    Natural varianti441 – 4411R → C in COACHS. 1 Publication
    VAR_063794
    Natural varianti485 – 4851P → S in COACHS. 1 Publication
    VAR_063795
    Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
    VAR_031987
    Natural varianti590 – 5901F → S in COACHS. 1 Publication
    VAR_063796
    Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
    VAR_062319
    Natural varianti637 – 6371F → L in COACHS. 1 Publication
    VAR_063797
    Natural varianti728 – 7281S → G in COACHS. 1 Publication
    VAR_063798
    Natural varianti782 – 7821H → R in COACHS. 1 Publication
    VAR_063799
    Natural varianti820 – 8201R → S in COACHS. 1 Publication
    VAR_063800
    Natural varianti833 – 8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 Publications
    VAR_063801
    Natural varianti841 – 8411Q → P in COACHS. 1 Publication
    VAR_063802
    Natural varianti942 – 9421F → C in COACHS. 1 Publication
    VAR_063803
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti290 – 2901W → L in NPHP11. 1 Publication
    VAR_064185
    Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
    VAR_062319
    Natural varianti821 – 8211G → R in NPHP11. 1 Publication
    VAR_064186
    Natural varianti821 – 8211G → S in NPHP11. 1 Publication
    VAR_064187

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome, Mental retardation, Nephronophthisis, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    216360. phenotype.
    607361. phenotype.
    610688. phenotype.
    613550. phenotype.
    Orphaneti475. Joubert syndrome.
    1454. Joubert syndrome with hepatic defect.
    564. Meckel syndrome.
    84081. Senior-Boichis syndrome.
    PharmGKBiPA142670780.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 995995MeckelinPRO_0000225689Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi242 – 2421N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ5HYA8.
    PaxDbiQ5HYA8.
    PRIDEiQ5HYA8.

    PTM databases

    PhosphoSiteiQ5HYA8.

    Expressioni

    Tissue specificityi

    Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.2 Publications

    Gene expression databases

    ArrayExpressiQ5HYA8.
    BgeeiQ5HYA8.
    CleanExiHS_TMEM67.
    GenevestigatoriQ5HYA8.

    Organism-specific databases

    HPAiHPA039940.

    Interactioni

    Subunit structurei

    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.By similarity4 Publications

    Protein-protein interaction databases

    BioGridi124799. 4 interactions.
    STRINGi9606.ENSP00000389998.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5HYA8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 2921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei526 – 54621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei570 – 59021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei609 – 62921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei689 – 70921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei734 – 75421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei939 – 95921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG277231.
    HOGENOMiHOG000231576.
    HOVERGENiHBG080334.
    InParanoidiQ5HYA8.
    OMAiDISALSC.
    OrthoDBiEOG7PCJGG.
    PhylomeDBiQ5HYA8.
    TreeFamiTF317053.

    Family and domain databases

    InterProiIPR009030. Growth_fac_rcpt_N_dom.
    IPR019170. Meckelin.
    [Graphical view]
    PANTHERiPTHR21274:SF0. PTHR21274:SF0. 1 hit.
    PfamiPF09773. Meckelin. 1 hit.
    [Graphical view]
    SUPFAMiSSF57184. SSF57184. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5HYA8-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD    50
    NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC 100
    PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC 150
    ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS 200
    TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG 250
    NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG 300
    DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE 350
    GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE 400
    YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG 450
    RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA 500
    NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI 550
    GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL 600
    PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK 650
    AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE 700
    VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF 750
    FAVFYERFIE DKIRQFVDLC SMSNISVFLL SHKCFGYYIH GRSVHGHADT 800
    NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR QHYDRIHETL 850
    IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL 900
    LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV 950
    DLACQNFILA SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI 995
    Length:995
    Mass (Da):111,745
    Last modified:January 11, 2011 - v2
    Checksum:i48B715BDD610C495
    GO
    Isoform 2 (identifier: Q5HYA8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-136: MATRGGAGVA...CHCPIGHILV → MSLSHWPYFR...GMYNIIEEIL

    Note: No experimental confirmation available.Curated

    Show »
    Length:914
    Mass (Da):103,590
    Checksum:iB7E458801DEA5E2C
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti251 – 2511N → S in BAG52507. (PubMed:14702039)Curated
    Sequence conflicti325 – 3251N → D in BAG52507. (PubMed:14702039)Curated
    Isoform 2 (identifier: Q5HYA8-3)
    Sequence conflicti18 – 181Q → R in BAG52507. (PubMed:14702039)Curated
    Sequence conflicti24 – 241Q → R in BAG52507. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541Y → C in MKS3; unknown pathological significance. 1 Publication
    VAR_062310
    Natural varianti82 – 821P → R in a patient with Joubert syndrome related disorder without clinically apparent liver disease. 1 Publication
    VAR_063783
    Natural varianti82 – 821P → S in a patient with Joubert syndrome related disorder without clinically apparent liver disease. 1 Publication
    VAR_063784
    Natural varianti99 – 991K → N in COACHS. 1 Publication
    VAR_063785
    Natural varianti130 – 1301P → R in COACHS. 2 Publications
    VAR_063786
    Natural varianti172 – 1721R → Q in COACHS. 1 Publication
    VAR_063787
    Natural varianti218 – 2181G → A.1 Publication
    VAR_062311
    Natural varianti242 – 2421N → T in COACHS. 1 Publication
    VAR_063788
    Natural varianti245 – 2451S → F in MKS3; unknown pathological significance. 1 Publication
    VAR_062312
    Natural varianti252 – 2521M → T in MKS3 and COACHS. 3 Publications
    VAR_062313
    Natural varianti257 – 2571M → V in COACHS. 1 Publication
    VAR_063789
    Natural varianti261 – 2611D → N.1 Publication
    Corresponds to variant rs35793208 [ dbSNP | Ensembl ].
    VAR_062314
    Natural varianti290 – 2901W → L in NPHP11. 1 Publication
    VAR_064185
    Natural varianti296 – 2961W → C in MKS3; unknown pathological significance.
    VAR_062315
    Natural varianti320 – 3201S → C Is a modifier of Bardet-Biedl syndrome; found in a BBS14 patient also carrying a homozygous truncating mutation of the CEP290 gene. 1 Publication
    Corresponds to variant rs111619594 [ dbSNP | Ensembl ].
    VAR_062316
    Natural varianti349 – 3491L → S in COACHS. 1 Publication
    VAR_063790
    Natural varianti358 – 3581P → L in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 2 Publications
    VAR_063791
    Natural varianti372 – 3721T → K in COACHS. 2 Publications
    VAR_063792
    Natural varianti376 – 3761Q → E in COACHS. 1 Publication
    VAR_063793
    Natural varianti376 – 3761Q → P in MKS3; leads to endoplasmic reticulum retention and prevents localization at the cell membrane. 1 Publication
    VAR_025474
    Natural varianti437 – 4371L → V.1 Publication
    Corresponds to variant rs35765535 [ dbSNP | Ensembl ].
    VAR_062317
    Natural varianti440 – 4401R → Q in MKS3 and COACHS. 2 Publications
    VAR_062318
    Natural varianti441 – 4411R → C in COACHS. 1 Publication
    VAR_063794
    Natural varianti485 – 4851P → S in COACHS. 1 Publication
    VAR_063795
    Natural varianti513 – 5131Y → C in JBTS6, MKS3 and COACHS. 3 Publications
    VAR_031987
    Natural varianti545 – 5451G → E in JBTS6. 1 Publication
    VAR_031988
    Natural varianti590 – 5901F → S in COACHS. 1 Publication
    VAR_063796
    Natural varianti604 – 6041I → V.2 Publications
    Corresponds to variant rs3134031 [ dbSNP | Ensembl ].
    VAR_025475
    Natural varianti615 – 6151C → R in MKS3, COACHS and NPHP11. 3 Publications
    VAR_062319
    Natural varianti637 – 6371F → L in COACHS. 1 Publication
    VAR_063797
    Natural varianti728 – 7281S → G in COACHS. 1 Publication
    VAR_063798
    Natural varianti782 – 7821H → R in COACHS. 1 Publication
    VAR_063799
    Natural varianti820 – 8201R → S in COACHS. 1 Publication
    VAR_063800
    Natural varianti821 – 8211G → R in NPHP11. 1 Publication
    VAR_064186
    Natural varianti821 – 8211G → S in NPHP11. 1 Publication
    VAR_064187
    Natural varianti833 – 8331I → T in COACHS and JBTS6; found in a patient with Joubert syndrome that also carries mutation 1329-R--S-1332 Del in KIF7. 4 Publications
    VAR_063801
    Natural varianti841 – 8411Q → P in COACHS. 1 Publication
    VAR_063802
    Natural varianti942 – 9421F → C in COACHS. 1 Publication
    VAR_063803
    Natural varianti966 – 9661L → P in MKS3. 1 Publication
    VAR_062320

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 136136MATRG…GHILV → MSLSHWPYFRLVLNFRPQVI CLPQPPKVLGYRLEPPHLTL ACTLEGMYNIIEEIL in isoform 2. 1 PublicationVSP_044475Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS47893.1. [Q5HYA8-3]
    CCDS6258.2. [Q5HYA8-1]
    RefSeqiNP_001135773.1. NM_001142301.1. [Q5HYA8-3]
    NP_714915.3. NM_153704.5. [Q5HYA8-1]
    UniGeneiHs.116240.

    Genome annotation databases

    EnsembliENST00000323130; ENSP00000314488; ENSG00000164953.
    ENST00000409623; ENSP00000386966; ENSG00000164953. [Q5HYA8-3]
    ENST00000453321; ENSP00000389998; ENSG00000164953. [Q5HYA8-1]
    GeneIDi91147.
    KEGGihsa:91147.
    UCSCiuc003yga.4. human. [Q5HYA8-3]
    uc011lgk.2. human. [Q5HYA8-1]

    Polymorphism databases

    DMDMi317373389.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS47893.1. [Q5HYA8-3 ]
    CCDS6258.2. [Q5HYA8-1 ]
    RefSeqi NP_001135773.1. NM_001142301.1. [Q5HYA8-3 ]
    NP_714915.3. NM_153704.5. [Q5HYA8-1 ]
    UniGenei Hs.116240.

    3D structure databases

    ProteinModelPortali Q5HYA8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124799. 4 interactions.
    STRINGi 9606.ENSP00000389998.

    Protein family/group databases

    TCDBi 9.B.77.1.1. the meckel syndrome protein (meckelin) family.

    PTM databases

    PhosphoSitei Q5HYA8.

    Polymorphism databases

    DMDMi 317373389.

    Proteomic databases

    MaxQBi Q5HYA8.
    PaxDbi Q5HYA8.
    PRIDEi Q5HYA8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323130 ; ENSP00000314488 ; ENSG00000164953 .
    ENST00000409623 ; ENSP00000386966 ; ENSG00000164953 . [Q5HYA8-3 ]
    ENST00000453321 ; ENSP00000389998 ; ENSG00000164953 . [Q5HYA8-1 ]
    GeneIDi 91147.
    KEGGi hsa:91147.
    UCSCi uc003yga.4. human. [Q5HYA8-3 ]
    uc011lgk.2. human. [Q5HYA8-1 ]

    Organism-specific databases

    CTDi 91147.
    GeneCardsi GC08P094837.
    GeneReviewsi TMEM67.
    H-InvDB HIX0007648.
    HGNCi HGNC:28396. TMEM67.
    HPAi HPA039940.
    MIMi 209900. phenotype.
    216360. phenotype.
    607361. phenotype.
    609884. gene.
    610688. phenotype.
    613550. phenotype.
    neXtProti NX_Q5HYA8.
    Orphaneti 475. Joubert syndrome.
    1454. Joubert syndrome with hepatic defect.
    564. Meckel syndrome.
    84081. Senior-Boichis syndrome.
    PharmGKBi PA142670780.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277231.
    HOGENOMi HOG000231576.
    HOVERGENi HBG080334.
    InParanoidi Q5HYA8.
    OMAi DISALSC.
    OrthoDBi EOG7PCJGG.
    PhylomeDBi Q5HYA8.
    TreeFami TF317053.

    Miscellaneous databases

    GeneWikii TMEM67.
    GenomeRNAii 91147.
    NextBioi 77120.
    PROi Q5HYA8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5HYA8.
    Bgeei Q5HYA8.
    CleanExi HS_TMEM67.
    Genevestigatori Q5HYA8.

    Family and domain databases

    InterProi IPR009030. Growth_fac_rcpt_N_dom.
    IPR019170. Meckelin.
    [Graphical view ]
    PANTHERi PTHR21274:SF0. PTHR21274:SF0. 1 hit.
    Pfami PF09773. Meckelin. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57184. SSF57184. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.
      , 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. 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. Cited for: INTERACTION WITH FLNA.
    11. Cited for: VARIANT MKS3 PRO-376, TISSUE SPECIFICITY.
    12. 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. Cited for: VARIANTS COACHS ARG-130; LYS-372; GLN-440; SER-590; GLY-728; ARG-782; SER-820 AND THR-833.
    15. "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.
    16. Cited for: VARIANTS NPHP11 LEU-290; ARG-615; SER-821 AND ARG-821, VARIANTS JBTS6 THR-252; ARG-615; ARG-821 AND THR-833.
    17. 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.
    18. Cited for: VARIANTS JBTS6 LEU-358 AND THR-833.

    Entry informationi

    Entry nameiMKS3_HUMAN
    AccessioniPrimary (citable) accession number: Q5HYA8
    Secondary accession number(s): B3KRU5
    , B3KT47, G5E9H2, Q3ZCX3, Q7Z5T8, Q8IZ06
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 100 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3