LOCUS       NP_714915                995 aa            linear   PRI 12-OCT-2024
DEFINITION  meckelin isoform 1 precursor [Homo sapiens].
ACCESSION   NP_714915
VERSION     NP_714915.3
DBSOURCE    REFSEQ: accession NM_153704.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 995)
  AUTHORS   Pang,J., Kong,F., Tang,W., Xi,H., Ma,N., Sheng,X., Peng,Y. and
            Liu,Z.
  TITLE     Two novel TMEM67 variations in a Chinese family with recurrent
            pregnancy loss: a case report
  JOURNAL   BMC Med Genomics 17 (1), 156 (2024)
   PUBMED   38844949
  REMARK    GeneRIF: Two novel TMEM67 variations in a Chinese family with
            recurrent pregnancy loss: a case report.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 995)
  AUTHORS   Yinsheng,Z., Miyoshi,K., Qin,Y., Fujiwara,Y., Yoshimura,T. and
            Katayama,T.
  TITLE     TMEM67 is required for the gating function of the transition zone
            that controls entry of membrane-associated proteins ARL13B and
            INPP5E into primary cilia
  JOURNAL   Biochem Biophys Res Commun 636 (Pt 1), 162-169 (2022)
   PUBMED   36334440
  REMARK    GeneRIF: TMEM67 is required for the gating function of the
            transition zone that controls entry of membrane-associated proteins
            ARL13B and INPP5E into primary cilia.
REFERENCE   3  (residues 1 to 995)
  AUTHORS   Qiu,Y.L., Wang,L., Huang,M., Lian,M., Wang,F., Gong,Y., Ma,X.,
            Hao,C.Z., Zhang,J., Li,Z.D., Xing,Q.H., Cao,M. and Wang,J.S.
  TITLE     Association of novel TMEM67 variants with mild phenotypes of high
            gamma-glutamyl transpeptidase cholestasis and congenital hepatic
            fibrosis
  JOURNAL   J Cell Physiol 237 (6), 2713-2723 (2022)
   PUBMED   35621037
  REMARK    GeneRIF: Association of novel TMEM67 variants with mild phenotypes
            of high gamma-glutamyl transpeptidase cholestasis and congenital
            hepatic fibrosis.
REFERENCE   4  (residues 1 to 995)
  AUTHORS   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., Vekemans,M., Antignac,C.
            and Attie-Bitach,T.
  TITLE     The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert
            syndrome
  JOURNAL   Am J Hum Genet 80 (1), 186-194 (2007)
   PUBMED   17160906
  REMARK    GeneRIF: identified MKS3 mutations in four patients with JS, thus
            defining MKS3 as the sixth JS locus (JBTS6)
REFERENCE   5  (residues 1 to 995)
  AUTHORS   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., 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.
            2nd, Harris,P.C. and Johnson,C.A.
  TITLE     The transmembrane protein meckelin (MKS3) is mutated in
            Meckel-Gruber syndrome and the wpk rat
  JOURNAL   Nat Genet 38 (2), 191-196 (2006)
   PUBMED   16415887
  REMARK    GeneRIF: Positional cloning of the Wpk gene suggested a MKS3
            candidate gene, TMEM67, for which we identified pathogenic
            mutations for five MKS3-linked consanguineous families.
REFERENCE   6  (residues 1 to 995)
  AUTHORS   Morgan,N.V., Gissen,P., Sharif,S.M., Baumber,L., Sutherland,J.,
            Kelly,D.A., Aminu,K., Bennett,C.P., Woods,C.G., Mueller,R.F.,
            Trembath,R.C., Maher,E.R. and Johnson,C.A.
  TITLE     A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome
            8q24
  JOURNAL   Hum Genet 111 (4-5), 456-461 (2002)
   PUBMED   12384791
  REMARK    GeneRIF: mapping to chromosome 8 and possible role in Meckel-Gruber
            syndrome
REFERENCE   7  (residues 1 to 995)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   8  (residues 1 to 995)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   9  (residues 1 to 995)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (residues 1 to 995)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK308071.1, BC031220.1,
            BC054338.1, AC010834.19 and BM310097.1.
            
            On May 2, 2008 this sequence version replaced NP_714915.2.
            
            Summary: The protein encoded by this gene localizes to the primary
            cilium and to the plasma membrane. The gene functions in centriole
            migration to the apical membrane and formation of the primary
            cilium. Multiple transcript variants encoding different isoforms
            have been found for this gene. Defects in this gene are a cause of
            Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).
            [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer protein (isoform 1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC054338.1, BX648768.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000453321.8/ ENSP00000389998.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..995
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     Protein         1..995
                     /product="meckelin isoform 1 precursor"
                     /note="meckel syndrome type 3 protein"
                     /calculated_mol_wt=107956
     sig_peptide     1..36
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=3808
     mat_peptide     37..995
                     /product="Meckelin. /id=PRO_0000225689"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
                     /calculated_mol_wt=107956
     Region          37..280
                     /region_name="Cysteine-rich.
                     /evidence=ECO:0000269|PubMed:34731008"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            141
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34731008,
                     ECO:0007744|PDB:7FH1; propagated from UniProtKB/Swiss-Prot
                     (Q5HYA8.2)"
     Region          167..995
                     /region_name="Meckelin"
                     /note="Meckelin (Transmembrane protein 67); pfam09773"
                     /db_xref="CDD:462892"
     Site            179
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34731008,
                     ECO:0007744|PDB:7FH1; propagated from UniProtKB/Swiss-Prot
                     (Q5HYA8.2)"
     Site            242
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34731008,
                     ECO:0007744|PDB:7FH1; propagated from UniProtKB/Swiss-Prot
                     (Q5HYA8.2)"
     Site            318
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:34731008,
                     ECO:0007744|PDB:7FH1; propagated from UniProtKB/Swiss-Prot
                     (Q5HYA8.2)"
     Site            520..548
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            559..590
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            604..631
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            671..701
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            732..771
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            927..952
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     Site            958..985
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5HYA8.2)"
     CDS             1..995
                     /gene="TMEM67"
                     /gene_synonym="JBTS6; MECKELIN; MKS3; NPHP11; TNEM67"
                     /coded_by="NM_153704.6:22..3009"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS6258.2"
                     /db_xref="GeneID:91147"
                     /db_xref="HGNC:HGNC:28396"
                     /db_xref="MIM:609884"
ORIGIN      
        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 pmpiqeerfv 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
//
