LOCUS       NM_017777               2343 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens MKS transition zone complex subunit 1 (MKS1),
            transcript variant 1, mRNA.
ACCESSION   NM_017777
VERSION     NM_017777.4
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  (bases 1 to 2343)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2343)
  AUTHORS   Okazaki,M., Kobayashi,T., Chiba,S., Takei,R., Liang,L., Nakayama,K.
            and Katoh,Y.
  TITLE     Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is
            essential as a diffusion barrier for ciliary membrane proteins
  JOURNAL   Mol Biol Cell 31 (20), 2259-2268 (2020)
   PUBMED   32726168
  REMARK    GeneRIF: Formation of the B9-domain protein complex MKS1-B9D2-B9D1
            is essential as a diffusion barrier for ciliary membrane proteins.
REFERENCE   3  (bases 1 to 2343)
  AUTHORS   Goetz,S.C., Bangs,F., Barrington,C.L., Katsanis,N. and
            Anderson,K.V.
  TITLE     The Meckel syndrome- associated protein MKS1 functionally interacts
            with components of the BBSome and IFT complexes to mediate ciliary
            trafficking and hedgehog signaling
  JOURNAL   PLoS One 12 (3), e0173399 (2017)
   PUBMED   28291807
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2343)
  AUTHORS   Khan,S., Ullah,I., Nasir,A., Meijer,C.A., Laurense-Bik,M., den
            Dunnen,J.T., Ruivenkamp,C.A., Hoffer,M.J., Santen,G.W. and Ahmad,W.
  CONSRTM   Irfanullah
  TITLE     Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert
            syndrome and atypical features: Expanding the phenotypic spectrum
            of MKS1-related ciliopathies
  JOURNAL   Am J Med Genet A 170 (12), 3289-3293 (2016)
   PUBMED   27570071
  REMARK    GeneRIF: we have described a pathogenic variant in the MKS1
            resulting in a mild Joubert syndrome phenotype, which broadens the
            spectrum of mutations in the MKS1.
REFERENCE   5  (bases 1 to 2343)
  AUTHORS   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. and
            Johnson,C.A.
  TITLE     The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and
            are required for primary cilium formation
  JOURNAL   Hum Mol Genet 16 (2), 173-186 (2007)
   PUBMED   17185389
  REMARK    GeneRIF: The Meckel-Gruber Syndrome proteins MKS1 and meckelin
            interact and are required for primary cilium formation.
REFERENCE   6  (bases 1 to 2343)
  AUTHORS   Kyttala,M., Tallila,J., Salonen,R., Kopra,O., Kohlschmidt,N.,
            Paavola-Sakki,P., Peltonen,L. and Kestila,M.
  TITLE     MKS1, encoding a component of the flagellar apparatus basal body
            proteome, is mutated in Meckel syndrome
  JOURNAL   Nat Genet 38 (2), 155-157 (2006)
   PUBMED   16415886
  REMARK    GeneRIF: identification of a gene, MKS1,(Meckel syndrome) mutated
            in MKS families linked to 17q.
REFERENCE   7  (bases 1 to 2343)
  AUTHORS   Paavola,P., Salonen,R., Weissenbach,J. and Peltonen,L.
  TITLE     The locus for Meckel syndrome with multiple congenital anomalies
            maps to chromosome 17q21-q24
  JOURNAL   Nat Genet 11 (2), 213-215 (1995)
   PUBMED   7550354
REFERENCE   8  (bases 1 to 2343)
  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  (bases 1 to 2343)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
REFERENCE   10 (bases 1 to 2343)
  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 DQ185029.1, AK000352.1 and
            BE327525.1.
            
            On Aug 31, 2019 this sequence version replaced NM_017777.3.
            
            Summary: The protein encoded by this gene localizes to the basal
            body and is required for formation of the primary cilium in
            ciliated epithelial cells. Mutations in this gene result in Meckel
            syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes 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 :: DQ185029.1, SRR18074969.2335578.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393119.7/ ENSP00000376827.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2216              DQ185029.1         51-2266
            2217-2342           AK000352.1         1939-2064
            2343-2343           BE327525.1         16-16               c
FEATURES             Location/Qualifiers
     source          1..2343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..2343
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /note="MKS transition zone complex subunit 1"
                     /db_xref="GeneID:54903"
                     /db_xref="HGNC:HGNC:7121"
                     /db_xref="MIM:609883"
     exon            1..105
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1705
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /note="isoform 1 is encoded by transcript variant 1; POC12
                     centriolar protein homolog; meckel syndrome type 1
                     protein; tectonic-like complex member MKS1"
                     /codon_start=1
                     /product="tectonic-like complex member MKS1 isoform 1"
                     /protein_id="NP_060247.2"
                     /db_xref="CCDS:CCDS11603.2"
                     /db_xref="GeneID:54903"
                     /db_xref="HGNC:HGNC:7121"
                     /db_xref="MIM:609883"
                     /translation="MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPA
                     AELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSP
                     LDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMA
                     NVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGY
                     KKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEE
                     EERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHF
                     FVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALP
                     EWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFI
                     GGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRLHCLQQSRAFMESSSLQKR
                     MRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS"
     exon            106..215
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            216..286
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            287..442
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            443..540
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            541..669
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            670..774
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            775..883
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            884..940
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            941..983
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1049
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1120
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1190
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1298
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1432
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1515
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1516..1613
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..2343
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2323..2328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /note="hexamer: CATAAA"
     polyA_site      2343
                     /gene="MKS1"
                     /gene_synonym="BBS13; JBTS28; MES; MKS; POC12"
                     /note="major polyA site"
ORIGIN      
        1 gcagtcgcgg cgcgtcgcag ctgtcatggc ggagaccgtc tggagcactg acaccgggga
       61 ggcagtgtat cgctcccggg accccgtgcg caacttgcgc ctccgagtcc acctgcaaag
      121 aatcacatca agcaactttc ttcattatca gcctgctgcc gagctcggga aggacctcat
      181 agacttggcc acttttaggc ctcagccaac tgccagtgga caccgcccag aggaagacga
      241 agaggaggag attgtgattg ggtggcagga gaagctcttt agccagtttg aagtagatct
      301 gtaccaaaat gaaacagcct gtcagagtcc tttggattat cagtaccgtc aggagatcct
      361 gaagctggag aattcgggtg gcaagaaaaa ccgacgaatc tttacctaca ctgactctga
      421 tagatacacc aatttggagg agcactgtca gagaatgacc actgcagcca gcgaggtgcc
      481 ttcattcttg gtcgagcgaa tggcaaatgt caggcgtcgc cggcaggaca ggcgagggat
      541 ggagggcggc atcctcaagt cacgcatcgt cacctgggag ccctcagaag agtttgtcag
      601 gaacaaccac gtcattaaca cccctcttca gacaatgcac atcatggcag acctggggcc
      661 ctataaaaag cttggctata agaagtatga acatgtcctg tgtactctga aggtggatag
      721 caatggtgtg atcacagtaa agcctgactt cacgggcctc aaaggaccct acaggattga
      781 gacggagggg gagaagcagg agctgtggaa atatacgatc gacaatgttt ccccccacgc
      841 acagccggag gaggaggagc gggaacggcg agtgttcaag gatctttatg gccggcacaa
      901 ggagtatctc agcagcctcg taggcaccga ctttgagatg actgtcccag gtgccctccg
      961 gctctttgta aatggagagg tcgtttcagc ccaaggctat gagtatgaca atctctacgt
     1021 ccacttcttt gtagaattgc caactgctca ctggtcaagc ccagcattcc agcagctctc
     1081 aggagtaaca cagacctgca ccaccaagtc cctggcaatg gacaaggtgg ctcacttctc
     1141 ctacccattc acgtttgaag ccttcttcct ccatgaggat gaatcttctg atgcactccc
     1201 ggagtggcct gtgctctact gtgaggtcct ctcgctggac ttctggcaga ggtaccgtgt
     1261 ggaaggctat ggggctgtgg tgctgcctgc cactccaggc tcacacaccc tgacagtctc
     1321 cacgtggaga cctgtggagc ttggcacggt ggctgagctg aggaggtttt tcattggcgg
     1381 ttctctggaa ctggaggacc tctcctatgt acggatacca ggatccttca agggggaacg
     1441 cctgagccgc tttggactcc gcacagagac cacaggcact gtcaccttcc gcttgcactg
     1501 tctgcagcag tccagggcct tcatggaatc gagctccctt cagaaaagga tgcggagtgt
     1561 gttggaccgt ctggaagggt tcagccagca gagttccatt cacaatgtgc tagaggcctt
     1621 ccgtcgagcc cggcgccgca tgcaggaggc ccgggaaagc ctcccgcagg acctagtgag
     1681 cccctctgga accctggtct cctagctcac agcagccctg gcccacagtg caagaggaca
     1741 agatggggga tatctgaggc cagtgctctc ctgcctcttc gtctttctga ttagagacca
     1801 cgttggtctg ctgagaacca gaaaagctgg gaaattcccg gctggcccct ctgcctagcc
     1861 ttctgcaggg tcttctccct accctgtgga aataaagcca gagaccctgt ggccccccct
     1921 ttatatttgc agccactgtc aatgggcatc acagcaaggc aggctttttg atctgaagct
     1981 gtttggggtg accccatagt gagtctggcc ttgactcact tttctggctt gtctcacagt
     2041 agcaggggat ctgctgttct ccacccttta aaaatggagc ctttcatctt ccaagaccaa
     2101 agaaggaagg aaggtggacg gtgagagggt cttaaatccc cagcctgtga gtctcagcct
     2161 ctttccaggg aagcctcatt ctactgcttg gggcttgctg aggttgagat atgagttatt
     2221 tctgagtaag tgaaggctga aggcagtgct gagtcctttc tgctagctgg gtggtatctt
     2281 ttactgtgtt tttttgtttg tttgtttttt tgttttttgt tacataaacc ccttttattt
     2341 tga
//
