LOCUS       NP_775901               2226 aa            linear   PRI 28-APR-2025
DEFINITION  rotatin isoform 1 [Homo sapiens].
ACCESSION   NP_775901
VERSION     NP_775901.3
DBSOURCE    REFSEQ: accession NM_173630.4
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  (residues 1 to 2226)
  AUTHORS   Chou,E.J. and Tang,T.K.
  TITLE     Human Microcephaly Protein RTTN Is Required for Proper Mitotic
            Progression and Correct Spindle Position
  JOURNAL   Cells 10 (6), 1441 (2021)
   PUBMED   34207628
  REMARK    GeneRIF: Human Microcephaly Protein RTTN Is Required for Proper
            Mitotic Progression and Correct Spindle Position.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2226)
  AUTHORS   Zakaria,M., Fatima,A., Klar,J., Wikstrom,J., Abdullah,U., Ali,Z.,
            Akram,T., Tariq,M., Ahmad,H., Schuster,J., Baig,S.M. and Dahl,N.
  TITLE     Primary microcephaly, primordial dwarfism, and brachydactyly in
            adult cases with biallelic skipping of RTTN exon 42
  JOURNAL   Hum Mutat 40 (7), 899-903 (2019)
   PUBMED   30927481
  REMARK    GeneRIF: Study reports on a consanguineous family with three adult
            members with primary microcephaly, developmental delay, primordial
            dwarfism, and brachydactyly segregating a homozygous splice site
            variant NM_173630.3:c.5648-5T>A in RTTN. The variant RTTN allele
            results in a nonhypomorphic skipping of exon 42 and a frameshift
            [(NP_775901.3:p.Ala1883Glyfs*6)].
REFERENCE   3  (residues 1 to 2226)
  AUTHORS   Cavallin,M., Bery,A., Maillard,C., Salomon,L.J., Bole,C.,
            Reilly,M.L., Nitschke,P., Boddaert,N. and Bahi-Buisson,N.
  TITLE     Recurrent RTTN mutation leading to severe microcephaly,
            polymicrogyria and growth restriction
  JOURNAL   Eur J Med Genet 61 (12), 755-758 (2018)
   PUBMED   30121372
  REMARK    GeneRIF: We identified, by trio based whole exome sequencing, a
            homozygous missense mutation in the RTTN gene (c.2953A>G;
            p.(Arg985Gly)) in one Moroccan patient from a consanguineous
            family.
REFERENCE   4  (residues 1 to 2226)
  AUTHORS   Stouffs,K., Moortgat,S., Vanderhasselt,T., Vandervore,L., Dica,A.,
            Mathot,M., Keymolen,K., Seneca,S., Gheldof,A., De Meirleir,L. and
            Jansen,A.C.
  TITLE     Biallelic mutations in RTTN are associated with microcephaly, short
            stature and a wide range of brain malformations
  JOURNAL   Eur J Med Genet 61 (12), 733-737 (2018)
   PUBMED   29883675
  REMARK    GeneRIF: We here report three individuals from two unrelated
            families with novel mutations in the RTTN gene. The phenotype
            consisted of microcephaly, short stature, pachygyria or
            polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and
            superior vermis. These findings provide further confirmation of the
            phenotype related to pathogenic variants in RTTN.
REFERENCE   5  (residues 1 to 2226)
  AUTHORS   Sydor,A.M., Coyaud,E., Rovelli,C., Laurent,E., Liu,H., Raught,B.
            and Mennella,V.
  TITLE     PPP1R35 is a novel centrosomal protein that regulates centriole
            length in concert with the microcephaly protein RTTN
  JOURNAL   Elife 7, e37846 (2018)
   PUBMED   30168418
  REMARK    GeneRIF: Data show that PPP1R35 acts downstream of, and forms a
            complex with, RTTN, a microcephaly protein required for distal
            centriole elongation.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 2226)
  AUTHORS   Shamseldin,H., Alazami,A.M., Manning,M., Hashem,A., Caluseiu,O.,
            Tabarki,B., Esplin,E., Schelley,S., Innes,A.M., Parboosingh,J.S.,
            Lamont,R., Majewski,J., Bernier,F.P. and Alkuraya,F.S.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism
            in Humans
  JOURNAL   Am J Hum Genet 97 (6), 862-868 (2015)
   PUBMED   26608784
  REMARK    GeneRIF: RTTN mutations cause primary microcephaly and primordial
            dwarfism in humans.
REFERENCE   7  (residues 1 to 2226)
  AUTHORS   Toro,C., Olive,M., Dalakas,M.C., Sivakumar,K., Bilbao,J.M.,
            Tyndel,F., Vidal,N., Farrero,E., Sambuughin,N. and Goldfarb,L.G.
  TITLE     Exome sequencing identifies titin mutations causing hereditary
            myopathy with early respiratory failure (HMERF) in families of
            diverse ethnic origins
  JOURNAL   BMC Neurol 13, 29 (2013)
   PUBMED   23514108
  REMARK    Publication Status: Online-Only
REFERENCE   8  (residues 1 to 2226)
  AUTHORS   Kheradmand Kia,S., Verbeek,E., Engelen,E., Schot,R., Poot,R.A., de
            Coo,I.F., Lequin,M.H., Poulton,C.J., Pourfarzad,F., Grosveld,F.G.,
            Brehm,A., de Wit,M.C., Oegema,R., Dobyns,W.B., Verheijen,F.W. and
            Mancini,G.M.
  TITLE     RTTN mutations link primary cilia function to organization of the
            human cerebral cortex
  JOURNAL   Am J Hum Genet 91 (3), 533-540 (2012)
   PUBMED   22939636
  REMARK    GeneRIF: RTTN mutations therefore link aberrant ciliary function to
            abnormal development and organization of the cortex in human
            individuals.
REFERENCE   9  (residues 1 to 2226)
  AUTHORS   Stevens,N.R., Dobbelaere,J., Wainman,A., Gergely,F. and Raff,J.W.
  TITLE     Ana3 is a conserved protein required for the structural integrity
            of centrioles and basal bodies
  JOURNAL   J Cell Biol 187 (3), 355-363 (2009)
   PUBMED   19948479
REFERENCE   10 (residues 1 to 2226)
  AUTHORS   Faisst,A.M., Alvarez-Bolado,G., Treichel,D. and Gruss,P.
  TITLE     Rotatin is a novel gene required for axial rotation and left-right
            specification in mouse embryos
  JOURNAL   Mech Dev 113 (1), 15-28 (2002)
   PUBMED   11900971
  REMARK    GeneRIF: Study characterizing mouse rotatin gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096404.1, BF507420.1,
            BC047602.1, BC046222.2 and AC011930.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 12, 2007 this sequence version replaced NP_775901.2.
            
            Summary: This gene encodes a large protein whose specific function
            is unknown. Absence of the orthologous protein in mouse results in
            embryonic lethality with deficient axial rotation, abnormal
            differentiation of the neural tube, and randomized looping of the
            heart tube during development. In human, mutations in this gene are
            associated with polymicrogyria with seizures. In human fibroblasts
            this protein localizes at the ciliary basal bodies. Given the
            intracellular localization of this protein and the phenotypic
            effects of mutations, this gene is suspected of playing a role in
            the maintenance of normal ciliary structure which in turn effects
            the developmental process of left-right organ specification, axial
            rotation, and perhaps notochord development. [provided by RefSeq,
            Jan 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000640769.2/ ENSP00000491507.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2226
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q22.2"
     Protein         1..2226
                     /product="rotatin isoform 1"
                     /calculated_mol_wt=248500
     Region          16..112
                     /region_name="RTTN_N"
                     /note="Rotatin, an armadillo repeat protein, centriole
                     functioning; pfam14726"
                     /db_xref="CDD:464283"
     Region          295..345
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VV8.3)"
     Site            310
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q86VV8.3)"
     Site            811
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q86VV8.3)"
     Region          1534..1554
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q86VV8.3)"
     CDS             1..2226
                     /gene="RTTN"
                     /gene_synonym="MSSP"
                     /coded_by="NM_173630.4:30..6710"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS42443.1"
                     /db_xref="GeneID:25914"
                     /db_xref="HGNC:HGNC:18654"
                     /db_xref="MIM:610436"
ORIGIN      
        1 mvlaglirkl ghqlaeirer alksilckie hnlicyadli qerqlflhll ewfnfpsvpm
       61 keevlnllsr lvkyppavqh lvdvgavefl sklrsnvepn lqaeidgild glfllpsevp
      121 alssasyqtn qtelsknpei ltgyfpqdks nfqqmevppr pvvnqtvkcl kfstfpwlpl
      181 tttdrhvlss nesslrssnh tliwntcell kdvimqdfpa eiflqrpkiv qsllsllkla
      241 fgdgkhrlal qsvsclqqlc mylrnrlnfh rdpgffsnkh dtvsqnssls ycheargthh
      301 sqnpspgsss prpsvvgrtg qrprgdgqdw daasssgsss hahvnsrisv hspldmghid
      361 lpeletedtl elqfqqlslp qfcvsilesa vpllrtgsrq viirvlellt edmtligeai
      421 stdiwddssl fgidmkekll lvlgalgetm cyhkssisle qpevmlvhhr mafisislfa
      481 vrllqtllpv ekaseflsep mstalfllsl dmpisleypn iheavvayle qlnsenysiy
      541 krtaeavysi ectcnflsdi gkegeknlle lveladqalr sfsyhqhfpl ikeiisicsk
      601 iwksaqaspl lqgesqkvll hmlshplprv kaetyhccle itkeclgvhn vtkpvsslcn
      661 gihfllhpkv lyeisvfgiq epesevntaa kaillyllqg rlmmtaltwn kfieslcpvi
      721 pilqgyadte dplgncilll skassdteem lpcttrlksm lrlllvkkps vrslalklla
      781 fhltseegad tkrplidarv lsrvtdlfig kkpielrldd rrelviklet vekvyeifts
      841 ddvdlvlrks aaeqlavimq dikmhavvkk lclidkiiey lnecvsqdgk vveclvqpcl
      901 tllrkvlcgd pvmrvslsqq sslltvlfrv slifhedcsv vtevgalfcl llfdevsrmd
      961 mwsvnpsnkp slpsvfslpv svfrryhlpv hvighhavsp ysivlplsad clalkpvsdm
     1021 lriawnlswy hgsdnllkqm nsetktqeil dalklstedi ltlkithmas glqdclhsiv
     1081 qaathrevra avtrmsfyll ndrlslkgcp gpcgvtlksl awhtalnrfl qvlpactede
     1141 kllidiihfl nklikeqrkn sslellnwil elllrhsanp lldllvltes qareetddir
     1201 tavrqqlqke lialfdtlll nfmevtdrkc sellyvfqtq lalkllqclk vtdaphfygl
     1261 pslertlrgm anltafpgws shspltkpld icvkylsgll evitsfyver ggnamsfmgk
     1321 gvtkstilcl lhlshemmaq agslewmslw flplgshsee hiptqqglaw liplwvdrdp
     1381 evrftslglg salttletgc valanscqni sgglwgtvvn illdqsecsm vrreaafilq
     1441 nllvipmpte iikdytwqgp cvhdedsgls ligkpalqal lyhchfyehl nqmvkhcylg
     1501 rcmfdlnfsa fdrnsesndl nglddsfkfw rapsrtsqdr dpsslstset tvapslgste
     1561 fqplvqsttl lpeashdqfv aqghqestsp rpphdsslsa plpklcvfvt psllsamcsl
     1621 ldnlltiapr dtakafrqah liellcsiad atliqtcvqe lrallpsspp aehtqaqvsf
     1681 lleylsslsr llqscllvep dlviqdelvk plitniigil tictkdvldk elisafyhtw
     1741 thlfnllaml lrkagaitlp fvtvalakhw taaidmfctc aglsatcpal ytaslqflsv
     1801 llteeakghl qakskthlcc sptvaslldd sqenqksleq lsdvilqcye gksskdilkr
     1861 vaanalmsll avsrraqkha lkanlidncm eqmkhinaql nldslrpgka alkkkedgvi
     1921 kelsiamqll rnclyqneec keaaleahlv pvlhslwpwi lmddslmqis lqllcvytan
     1981 fpngcsslcw sscgqhpvqa thrgavsnsl mlcilklasq mplenttvqq mvfmllsnla
     2041 lshdckgviq ksnflqnfls lalpkggnkh lsnltilwlk lllnissged gqqmilrldg
     2101 cldlltemsk ykhksspllp llifhnvcfs pankpkilan ekvitvlaac lesenqnaqr
     2161 igaaalwali ynyqkaktal kspsvkrrvd eayslakktf pnseanplna yylkclenlv
     2221 qllnss
//
