LOCUS       NM_194292               3848 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens SAS-6 centriolar assembly protein (SASS6), transcript
            variant 1, mRNA.
ACCESSION   NM_194292 XM_089143
VERSION     NM_194292.3
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 3848)
  AUTHORS   Li,Z., He,L., Li,J., Qian,J., Wu,Z., Zhu,Y., Zhuo,T., Nong,J.,
            Liang,H., Zheng,H., Huang,W., Huang,J. and Cao,J.
  TITLE     SASS6 promotes tumor proliferation and is associated with TP53 and
            immune infiltration in lung adenocarcinoma
  JOURNAL   Clin Exp Med 24 (1), 243 (2024)
   PUBMED   39443355
  REMARK    GeneRIF: SASS6 promotes tumor proliferation and is associated with
            TP53 and immune infiltration in lung adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3848)
  AUTHORS   Kong,X., Xu,J., Yin,H., Jiang,H., Cao,X., Cui,A. and Wang,X.
  TITLE     Novel biallelic SASS6 variants associated with primary microcephaly
            and fetal growth restriction
  JOURNAL   Am J Med Genet A 194 (7), e63598 (2024)
   PUBMED   38501757
  REMARK    GeneRIF: Novel biallelic SASS6 variants associated with primary
            microcephaly and fetal growth restriction.
REFERENCE   3  (bases 1 to 3848)
  AUTHORS   Wah,Y.M.I., Cao,Y., Law,C.Y., Choy,K.W., Leung,T.Y., Kwan,H.W.A.
            and Poon,L.C.
  TITLE     Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum
            Abnormalities in a Chinese Family with Novel Biallelic SASS6
            Mutations
  JOURNAL   Fetal Diagn Ther 50 (2), 84-91 (2023)
   PUBMED   36739862
  REMARK    GeneRIF: Case Report: Prenatal Recurrent Microcephaly and Corpus
            Callosum Abnormalities in a Chinese Family with Novel Biallelic
            SASS6 Mutations.
REFERENCE   4  (bases 1 to 3848)
  AUTHORS   Hazan,R., Mori,M., Danielian,P.S., Guen,V.J., Rubin,S.M.,
            Cardoso,W.V. and Lees,J.A.
  TITLE     E2F4's cytoplasmic role in multiciliogenesis is mediated via an
            N-terminal domain that binds two components of the centriole
            replication machinery, Deup1 and SAS6
  JOURNAL   Mol Biol Cell 32 (20), ar1 (2021)
   PUBMED   34260288
  REMARK    GeneRIF: E2F4's cytoplasmic role in multiciliogenesis is mediated
            via an N-terminal domain that binds two components of the centriole
            replication machinery, Deup1 and SAS6.
REFERENCE   5  (bases 1 to 3848)
  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   6  (bases 1 to 3848)
  AUTHORS   Pfaff,K.L., Straub,C.T., Chiang,K., Bear,D.M., Zhou,Y. and Zon,L.I.
  TITLE     The zebra fish cassiopeia mutant reveals that SIL is required for
            mitotic spindle organization
  JOURNAL   Mol Cell Biol 27 (16), 5887-5897 (2007)
   PUBMED   17576815
REFERENCE   7  (bases 1 to 3848)
  AUTHORS   Habedanck,R., Stierhof,Y.D., Wilkinson,C.J. and Nigg,E.A.
  TITLE     The Polo kinase Plk4 functions in centriole duplication
  JOURNAL   Nat Cell Biol 7 (11), 1140-1146 (2005)
   PUBMED   16244668
REFERENCE   8  (bases 1 to 3848)
  AUTHORS   Leidel,S., Delattre,M., Cerutti,L., Baumer,K. and Gonczy,P.
  TITLE     SAS-6 defines a protein family required for centrosome duplication
            in C. elegans and in human cells
  JOURNAL   Nat Cell Biol 7 (2), 115-125 (2005)
   PUBMED   15665853
  REMARK    GeneRIF: SAS-6 is required for daughter centriole formation in C.
            elegans. SAS-6 is a coiled-coil protein that is recruited to
            centrioles at the onset of the centrosome duplication cycle.
REFERENCE   9  (bases 1 to 3848)
  AUTHORS   Dammermann,A., Muller-Reichert,T., Pelletier,L., Habermann,B.,
            Desai,A. and Oegema,K.
  TITLE     Centriole assembly requires both centriolar and pericentriolar
            material proteins
  JOURNAL   Dev Cell 7 (6), 815-829 (2004)
   PUBMED   15572125
REFERENCE   10 (bases 1 to 3848)
  AUTHORS   Andersen,J.S., Wilkinson,C.J., Mayor,T., Mortensen,P., Nigg,E.A.
            and Mann,M.
  TITLE     Proteomic characterization of the human centrosome by protein
            correlation profiling
  JOURNAL   Nature 426 (6966), 570-574 (2003)
   PUBMED   14654843
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY359522.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_194292.2.
            
            Summary: The protein encoded by this gene is a central component of
            centrioles and is necessary for their duplication and function.
            Centrioles adopt a cartwheel-shaped structure, with the encoded
            protein forming the hub and spokes inside a microtubule cylinder.
            Defects in this gene are a cause of autosomal recessive primary
            microcephaly. [provided by RefSeq, Oct 2016].
            
            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##
            Transcript exon combination :: AY359522.1, BX648406.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287482.6/ ENSP00000287482.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3848              AY359522.1         26-3873
FEATURES             Location/Qualifiers
     source          1..3848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..3848
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /note="SAS-6 centriolar assembly protein"
                     /db_xref="GeneID:163786"
                     /db_xref="HGNC:HGNC:25403"
                     /db_xref="MIM:609321"
     exon            1..181
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..2090
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     spindle assembly abnormal protein 6 homolog; spindle
                     assembly defective protein 6"
                     /codon_start=1
                     /product="spindle assembly abnormal protein 6 homolog
                     isoform 1"
                     /protein_id="NP_919268.1"
                     /db_xref="CCDS:CCDS764.1"
                     /db_xref="GeneID:163786"
                     /db_xref="HGNC:HGNC:25403"
                     /db_xref="MIM:609321"
                     /translation="MSQVLFHQLVPLQVKCKDCEERRVSIRMSIELQSVSNPVHRKDL
                     VIRLTDDTDPFFLYNLVISEEDFQSLKFQQGLLVDFLAFPQKFIDLLQQCTQEHAKEI
                     PRFLLQLVSPAAILDNSPAFLNVVETNPFKHLTHLSLKLLPGNDVEIKKFLAGCLKCS
                     KEEKLSLMQSLDDATKQLDFTRKTLAEKKQELDKLRNEWASHTAALTNKHSQELTNEK
                     EKALQAQVQYQQQHEQQKKDLEILHQQNIHQLQNRLSELEAANKDLTERKYKGDSTIR
                     ELKAKLSGVEEELQRTKQEVLSLRRENSTLDVECHEKEKHVNQLQTKVAVLEQEIKDK
                     DQLVLRTKEAFDTIQEQKVVLEENGEKNQVQLGKLEATIKSLSAELLKANEIIKKLQG
                     DLKTLMGKLKLKNTVTIQQEKLLAEKEEKLQKEQKELQDVGQSLRIKEQEVCKLQEQL
                     EATVKKLEESKQLLKNNEKLITWLNKELNENQLVRKQDVLGPSTTPPAHSSSNTIRSG
                     ISPNLNVVDGRLTYPTCGIGYPVSSAFAFQNTFPHSISAKNTSHPGSGTKVQFNLQFT
                     KPNASLGDVQSGATISMPCSTDKENGENVGLESKYLKKREDSIPLRGLSQNLFSNSDH
                     QRDGTLGALHTSSKPTALPSASSAYFPGQLPNS"
     exon            182..242
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            243..322
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            323..427
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            428..599
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            600..665
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            666..785
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            786..977
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            978..1172
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1262
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1263..1442
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..1524
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1525..1661
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1790
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..1888
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1889..1983
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..3848
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3826..3831
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /note="hexamer: AATAAA"
     polyA_site      3848
                     /gene="SASS6"
                     /gene_synonym="MCPH14; SAS-6; SAS6"
                     /note="major polyA site"
ORIGIN      
        1 ctccgcagaa gccgagcgcc aaactcaaac tttatcagga cccggacctc tcaggctaat
       61 cccgagggcc gggcctgttg ggcttttctg cacaccagcc gaggcagcga gccaacatga
      121 gccaagtgct gttccaccaa ctagtcccgt tgcaggtgaa atgcaaagac tgtgaggaga
      181 ggagagtaag tataagaatg agcattgaac tacaatcagt ttctaatcca gttcacagaa
      241 aggacttagt tattcgtctg actgatgaca cggatccatt ttttttatat aaccttgtta
      301 tatctgagga agattttcaa agtttaaaat tccagcaagg tcttctggta gacttcttag
      361 ctttcccaca aaaatttata gatctccttc agcaatgtac tcaagaacat gccaaagaaa
      421 ttccaaggtt tttgctacag ttagtttctc cagcagctat tttggataac tcacctgcat
      481 ttttaaatgt ggtagagaca aatcctttta agcatcttac acacctctca ctaaaacttt
      541 tacctggaaa tgatgtggag ataaagaaat ttctcgcagg ctgtttgaaa tgtagcaagg
      601 aagaaaaatt atcattgatg caatcactag atgatgctac taagcaactg gactttacac
      661 gaaagacatt agcagaaaaa aaacaagaat tagataagtt acggaatgaa tgggcgtcac
      721 atacagcagc cttgacaaac aagcattctc aggaactgac aaatgaaaag gaaaaagcct
      781 tgcaggcaca ggttcaatat caacagcagc atgaacaaca gaaaaaagat ttagaaatcc
      841 tccatcaaca aaacatccac cagctacaaa acagactgtc tgagttagaa gcggctaata
      901 aagacttaac cgaaagaaaa tataaaggag actccactat tagagaactt aaagcaaaac
      961 tttctggtgt tgaagaggag ctacagcgga ctaagcaaga agtcctctct ttgcgaagag
     1021 agaattctac actagatgtt gaatgccacg agaaagaaaa gcacgttaat cagctacaaa
     1081 caaaagtggc agttttagaa caggaaatca aggataagga ccagcttgtt ttaagaacaa
     1141 aagaggcatt tgatacaatc caggaacaaa aggtggtttt agaagaaaat ggtgagaaaa
     1201 atcaagtaca actaggaaag cttgaagcta caataaaatc attatctgca gaacttctga
     1261 aggcaaatga aattatcaag aagttacaag gggatctgaa aactttaatg ggtaagttga
     1321 aattgaagaa tacagttact attcagcaag aaaaactctt ggctgagaag gaggaaaaat
     1381 tacaaaagga acaaaaggaa ttacaagatg ttggacagtc tcttcgaatt aaagagcaag
     1441 aggtatgcaa attacaagaa caattagaag ctacagttaa aaaacttgaa gaaagcaaac
     1501 aacttctaaa aaataatgaa aagttaatca cgtggttaaa taaagaacta aatgaaaatc
     1561 agctagtgag aaagcaagat gtattgggac cttctactac tccgcctgca cattccagca
     1621 gcaacacaat cagaagtgga atttctccta acctgaatgt ggttgatggt agactgactt
     1681 acccaacctg tgggattggt tatcctgtct cctctgcatt tgcattccag aataccttcc
     1741 ctcattcgat atctgccaaa aataccagcc accctggttc aggaacaaag gttcagttta
     1801 atttgcagtt tacaaaacca aatgcatcac taggagatgt tcagtcagga gcaactatta
     1861 gtatgccttg ctcaactgat aaggaaaatg gtgaaaatgt agggttggaa tccaaatacc
     1921 tgaagaaaag ggaagatagc attcctttac gcggactcag ccagaaccta tttagtaatt
     1981 cagaccatca gagagatggc actttaggag cattacatac atcttccaaa cccacagcgc
     2041 tcccctctgc gtcttcagcc tatttccctg ggcagttacc aaacagttaa ttctagtgtc
     2101 atgttttact ttttattggt attttagaaa ctcaggtgct taaaaaatat gtcaacacaa
     2161 accagatcct caaatagcaa gtttcaaatt ttacttgagc tgttaaagac tggatacttt
     2221 aagtactgct tttatggcag tttataatat aggaacaaat ttgtacttgg ggattggtaa
     2281 agattgtgag taaatgacat tttttggttt gtgaacatgg cgttttatag aataatatga
     2341 attttattaa gctattcttt agaaattcag ttctaaggaa agagttgatc cttatgaggg
     2401 agattctgat catattaaaa atctgggtaa actaaaacct gctcataacc tcatagtatg
     2461 caaccaaaga atactaattc attttatcac tttcattggt aaaactttta aattcaacac
     2521 ctgaaaatca tgagggaaaa tgattacctc ttgagatata ttattgatga catttaaagg
     2581 gaaaagtcct aaatttacct taaataactg aaatgaatta agccttcata gcgtattttc
     2641 cttgaagcat ttaaatttgc tagtgatgaa tcaaataaat ttgatatact taaaataatt
     2701 tggacagttt ttatgtgacc agattaagtg cttttgtcat ttgagctgac aagtttttaa
     2761 aacttcagtg cttcctaaat gtttatactc atctagtttt tctcaatttg tagttttatt
     2821 atgcagttaa atctgtatca gtggactttt aaaacttggt actactacta aatctactat
     2881 atcatgaata ttcatttatt tttatagtat cagaacttgg gttgatttca atgttaataa
     2941 actaggcaaa acaaataact gttagaaggt acaattttct tctcttccct gtaactgaaa
     3001 gttttaagaa ttgttccttg gggaaaaatt tttttaaaat tcacctagaa tcatagggcc
     3061 tcattttgtt ttcttattga caaacaatac ctggtagcat tctctaaaga gtcttctaga
     3121 tcaattttta taaagtacta atgctcatgt gataatttaa aattattttc aactacttta
     3181 ttacacagat gaagaaacat ttcaagatat tgatgtaata acattactga gtcccatggt
     3241 aagaaagaat ctttgctaat tttttttttt tttttacgaa gccagtatct tgaaactatt
     3301 ggcaattgca agtgtcttta aactagggat ctaatctgaa aattcagtaa ctaatattag
     3361 gcagttgata ctcccccacc tcccccattt agatacacta ctgtattagt gagaatactt
     3421 ggtacagtaa cttgaaagca cttgctattc tggaaagaag cctcttggtg attttggaag
     3481 gagctttatt gtaaatacta tggaaggggc tttgttgtaa atactatgta atatatataa
     3541 aatattgtga catgttttgg atgggatgca tgacatacag gtagctctct tttttaaaat
     3601 ataggtatct ctttgcatat atatacacaa ggaaagttga attttcagga gagatcattc
     3661 tgatatcttg caaatttgta ttaaatgtat acagacttcc aagtgtgcta attctttacc
     3721 tcctaaactt ttagttgcaa ttgttttgca gtgtaaaatt gtacatgtgt taataatcaa
     3781 aaagtgttgc atttaatgtt atttctgtaa actttgagct ttgttaataa actattatgc
     3841 agcatcta
//
