LOCUS       NM_144596               2183 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript
            variant 1, mRNA.
ACCESSION   NM_144596
VERSION     NM_144596.4
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 2183)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2183)
  AUTHORS   Ullah,A., Umair,M., Yousaf,M., Khan,S.A., Nazim-Ud-Din,M., Shah,K.,
            Ahmad,F., Azeem,Z., Ali,G., Alhaddad,B., Rafique,A., Jan,A.,
            Haack,T.B., Strom,T.M., Meitinger,T., Ghous,T. and Ahmad,W.
  TITLE     Sequence variants in four genes underlying Bardet-Biedl syndrome in
            consanguineous families
  JOURNAL   Mol Vis 23, 482-494 (2017)
   PUBMED   28761321
  REMARK    GeneRIF: Two novel mutations and three previously reported
            variants, identified in the present study, further extend the body
            of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing
            Bardet-Biedl Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2183)
  AUTHORS   Boldt,K., van Reeuwijk,J., Lu,Q., Koutroumpas,K., Nguyen,T.M.,
            Texier,Y., van Beersum,S.E., Horn,N., Willer,J.R., Mans,D.A.,
            Dougherty,G., Lamers,I.J., Coene,K.L., Arts,H.H., Betts,M.J.,
            Beyer,T., Bolat,E., Gloeckner,C.J., Haidari,K., Hetterschijt,L.,
            Iaconis,D., Jenkins,D., Klose,F., Knapp,B., Latour,B.,
            Letteboer,S.J., Marcelis,C.L., Mitic,D., Morleo,M., Oud,M.M.,
            Riemersma,M., Rix,S., Terhal,P.A., Toedt,G., van Dam,T.J., de
            Vrieze,E., Wissinger,Y., Wu,K.M., Apic,G., Beales,P.L.,
            Blacque,O.E., Gibson,T.J., Huynen,M.A., Katsanis,N., Kremer,H.,
            Omran,H., van Wijk,E., Wolfrum,U., Kepes,F., Davis,E.E., Franco,B.,
            Giles,R.H., Ueffing,M., Russell,R.B. and Roepman,R.
  CONSRTM   UK10K Rare Diseases Group
  TITLE     An organelle-specific protein landscape identifies novel diseases
            and molecular mechanisms
  JOURNAL   Nat Commun 7, 11491 (2016)
   PUBMED   27173435
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2183)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 2183)
  AUTHORS   Nachury,M.V., Loktev,A.V., Zhang,Q., Westlake,C.J., Peranen,J.,
            Merdes,A., Slusarski,D.C., Scheller,R.H., Bazan,J.F.,
            Sheffield,V.C. and Jackson,P.K.
  TITLE     A core complex of BBS proteins cooperates with the GTPase Rab8 to
            promote ciliary membrane biogenesis
  JOURNAL   Cell 129 (6), 1201-1213 (2007)
   PUBMED   17574030
REFERENCE   6  (bases 1 to 2183)
  AUTHORS   Badano,J.L., Leitch,C.C., Ansley,S.J., May-Simera,H., Lawson,S.,
            Lewis,R.A., Beales,P.L., Dietz,H.C., Fisher,S. and Katsanis,N.
  TITLE     Dissection of epistasis in oligogenic Bardet-Biedl syndrome
  JOURNAL   Nature 439 (7074), 326-330 (2006)
   PUBMED   16327777
REFERENCE   7  (bases 1 to 2183)
  AUTHORS   Ansley,S.J., Badano,J.L., Blacque,O.E., Hill,J., Hoskins,B.E.,
            Leitch,C.C., Kim,J.C., Ross,A.J., Eichers,E.R., Teslovich,T.M.,
            Mah,A.K., Johnsen,R.C., Cavender,J.C., Lewis,R.A., Leroux,M.R.,
            Beales,P.L. and Katsanis,N.
  TITLE     Basal body dysfunction is a likely cause of pleiotropic
            Bardet-Biedl syndrome
  JOURNAL   Nature 425 (6958), 628-633 (2003)
   PUBMED   14520415
  REMARK    GeneRIF: A homozygous null BBS8 mutation leads to Bardet-Biedl
            syndrome with randomization of left-right body axis symmetry, a
            known defect of the nodal cilium
REFERENCE   8  (bases 1 to 2183)
  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 2183)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 2183)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX247959.1, AK124675.1 and
            AY366523.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jan 31, 2020 this sequence version replaced NM_144596.3.
            
            Summary: This gene encodes a protein that has been directly linked
            to Bardet-Biedl syndrome. The primary features of this syndrome
            include retinal dystrophy, obesity, polydactyly, renal
            abnormalities and learning disabilities. Experimentation in
            non-human eukaryotes suggests that this gene is expressed in
            ciliated cells and that it is involved in the formation of cilia. A
            mutation in this gene has also been implicated in nonsyndromic
            retinitis pigmentosa. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) encodes isoform A.
            
            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 :: AK124675.1, SRR14372079.2720396.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380656.7/ ENSP00000370031.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BX247959.1         140-150
            12-585              AK124675.1         1-574
            586-2183            AY366523.1         551-2148
FEATURES             Location/Qualifiers
     source          1..2183
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q31.3"
     gene            1..2183
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /note="tetratricopeptide repeat domain 8"
                     /db_xref="GeneID:123016"
                     /db_xref="HGNC:HGNC:20087"
                     /db_xref="MIM:608132"
     exon            1..171
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..1605
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /note="isoform A is encoded by transcript variant 1;
                     Bardet-Biedl syndrome type 8; TPR repeat protein 8"
                     /codon_start=1
                     /product="tetratricopeptide repeat protein 8 isoform A"
                     /protein_id="NP_653197.2"
                     /db_xref="CCDS:CCDS32137.1"
                     /db_xref="GeneID:123016"
                     /db_xref="HGNC:HGNC:20087"
                     /db_xref="MIM:608132"
                     /translation="MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPEL
                     PVHQAAWILKARALTEMVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQT
                     GGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVR
                     LGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTALDLAALSTE
                     HSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQPVT
                     ALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGS
                     NHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAEN
                     EEEAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQA
                     RALLQTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQL
                     RQHFAML"
     exon            172..201
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            202..322
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            323..386
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            387..546
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            547..636
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            637..681
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            682..767
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            768..855
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            856..966
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1106
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1281
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1404
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1488
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..2183
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2160..2165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /note="hexamer: AATAAA"
     polyA_site      2183
                     /gene="TTC8"
                     /gene_synonym="BBS8; RP51"
                     /note="major polyA site"
ORIGIN      
        1 actccacgcc cacctctctc ctggagcgct gggccttcgc tggccgcacc ggcagccatg
       61 agctcggaga tggagccgct gctcctggcc tggagctatt ttaggcgcag gaagttccag
      121 ctctgcgccg atctatgcac gcagatgctg gagaagtccc cttatgacca ggaaccagat
      181 cctgaattgc cagtgcatca ggcagcttgg atcttaaaag caagagcgct aacagaaatg
      241 gtatacatag atgaaattga tgtagatcag gaaggaattg cagaaatgat gctggatgaa
      301 aatgctatag ctcaagttcc acgccctgga acgtctttga aactccctgg aactaatcag
      361 acaggagggc ctagccaggc cgttaggcca atcacacaag ctggaagacc cattacaggt
      421 ttcctcaggc ccagcacgca gagtggaagg ccaggcacta tggaacaggc tatcagaaca
      481 cccagaaccg cctacacagc ccgccctatc accagctcct ccggaagatt tgtcaggctg
      541 ggaacggctt ccatgcttac aagtcctgat ggaccattta taaatttatc taggctgaat
      601 ttaacaaagt attcccagaa acctaagttg gcaaaggctt tgtttgagta tatctttcat
      661 catgaaaatg atgttaagac tgctttggat ctggctgccc tctccacaga acattctcag
      721 tacaaggact ggtggtggaa agtacagatt ggaaaatgtt actacaggtt gggaatgtat
      781 cgtgaagcag aaaaacagtt taaatcagcc ctgaagcagc aggaaatggt agatacattt
      841 ctgtacttgg caaaagttta tgtctcattg gatcaacctg tgactgcttt aaatcttttc
      901 aaacaaggct tagataagtt tccaggagaa gtaaccctgc tctgtggaat tgcaagaatc
      961 tatgaggaaa tgaacaatat gtcatcagca gcagaatatt acaaagaagt tttgaaacaa
     1021 gacaatactc atgtggaagc catcgcatgc attggaagca accacttcta ttctgatcag
     1081 ccagaaatag ctctccggtt ttacaggcgg ctgctgcaga tgggcattta taacggccag
     1141 ctttttaaca atctggggct gtgttgcttc tatgcccagc agtatgatat gactctgacc
     1201 tcatttgaac gtgccctttc tttggctgaa aatgaagaag aggcagctga tgtctggtac
     1261 aacttgggac atgtagctgt gggaatagga gatacaaatt tggcccatca gtgcttcagg
     1321 ctggctctgg tcaacaacaa caaccacgcc gaggcctaca acaacctggc tgtgctggag
     1381 atgcggaagg gccacgttga acaggcaagg gcactattac aaactgcatc atcattagca
     1441 ccccatatgt atgaaccgca ttttaatttt gcaacaatct ctgataagat tggagatctg
     1501 cagagaagct atgttgctgc gcagaagtct gaagcagcat ttccagacca tgtggacaca
     1561 caacatttaa ttaaacaatt aaggcagcat tttgctatgc tctgattgtt ccttagacca
     1621 catatgttct tatgaagcag cattatgcaa ggggaaaaaa gcactatgtc tgtgtatgta
     1681 tgtatatagt gtaatacgta tattttaaca aacctgtcct tgatattagt taaggtgaca
     1741 cataagggtg acacagaatg tgtaatgcaa atttcatagt aatagtaact ttataaaata
     1801 atattataaa atacaggatt taaacctttc taaatagatc ctgaaactgt ctctcacatt
     1861 atatagtaga tgtttgttta taatgtttac aaaacatttt ggtgaatttc ctcaatgttt
     1921 tataaatgta cattttttaa gtccttaagc tgactcttag ccatcatgta gcttaaggag
     1981 tctgaaatct gccattaaaa ctgcaccttt aagccaggtg tggtagcatg tgcctatagt
     2041 cccagctact tgggaggtgg aggtgggagg attataaata gagactttcc ttaagacttt
     2101 aaaaatgtat ttaaaactat tttttattaa atactttgtg atttcctatt aagctttaaa
     2161 ataaatcatt gtgtaaaaca cca
//
