LOCUS       NM_153707               2128 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens stabilizer of axonemal microtubules 1 (SAXO1),
            transcript variant 1, mRNA.
ACCESSION   NM_153707
VERSION     NM_153707.4
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 2128)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2128)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2128)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2128)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2128)
  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   6  (bases 1 to 2128)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   7  (bases 1 to 2128)
  AUTHORS   Dacheux,D., Roger,B., Bosc,C., Landrein,N., Roche,E., Chansel,L.,
            Trian,T., Andrieux,A., Papaxanthos-Roche,A., Marthan,R.,
            Robinson,D.R. and Bonhivers,M.
  TITLE     Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific
            to cilia and related structures
  JOURNAL   J Cell Sci 128 (7), 1294-1307 (2015)
   PUBMED   25673876
  REMARK    GeneRIF: SAXO1 binds specifically to centriole and cilium
            microtubules.
REFERENCE   8  (bases 1 to 2128)
  AUTHORS   Lee,Y., Yoon,K.A., Joo,J., Lee,D., Bae,K., Han,J.Y. and Lee,J.S.
  TITLE     Prognostic implications of genetic variants in advanced non-small
            cell lung cancer: a genome-wide association study
  JOURNAL   Carcinogenesis 34 (2), 307-313 (2013)
   PUBMED   23144319
  REMARK    GeneRIF: Single-nucleotide polymorphisms in FAM154A is associiated
            with non-small cell lung cancer.
REFERENCE   9  (bases 1 to 2128)
  AUTHORS   Lambert,B., Vandeputte,J., Remacle,S., Bergiers,I., Simonis,N.,
            Twizere,J.C., Vidal,M. and Rezsohazy,R.
  TITLE     Protein interactions of the transcription factor Hoxa1
  JOURNAL   BMC Dev Biol 12, 29 (2012)
   PUBMED   23088713
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB035807.1, BC033489.1, AW079914.1, AL158150.14 and AI808568.1.
            
            On Nov 23, 2018 this sequence version replaced NM_153707.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292245.1, BC033489.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380534.9/ ENSP00000369907.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-488               DB035807.1         44-531
            489-1736            BC033489.1         466-1713
            1737-2007           AW079914.1         13-283              c
            2008-2106           AL158150.14        124355-124453       c
            2107-2118           AI808568.1         17-28               c
            2119-2128           AL158150.14        124333-124342       c
FEATURES             Location/Qualifiers
     source          1..2128
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p22.1"
     gene            1..2128
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /note="stabilizer of axonemal microtubules 1"
                     /db_xref="GeneID:158297"
                     /db_xref="HGNC:HGNC:28566"
                     /db_xref="MIM:616292"
     exon            1..339
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /inference="alignment:Splign:2.1.0"
     CDS             302..1726
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /note="isoform a is encoded by transcript variant 1;
                     4930500O09Rik; protein FAM154A; family with sequence
                     similarity 154, member A"
                     /codon_start=1
                     /product="stabilizer of axonemal microtubules 1 isoform a"
                     /protein_id="NP_714918.2"
                     /db_xref="CCDS:CCDS6487.1"
                     /db_xref="GeneID:158297"
                     /db_xref="HGNC:HGNC:28566"
                     /db_xref="MIM:616292"
                     /translation="MKTKCICELCSCGRHHCPHLPTKIYDKTEKPCLLSEYTENYPFY
                     HSYLPRESFKPRREYQKGPIPMEGLTTSRRDFGPHKVAPVKVHQYDQFVPSEENMDLL
                     TTYKKDYNPYPVCRVDPIKPRDSKYPCSDKMECLPTYKADYLPWNQPRREPLRLEHKY
                     QPASVRFDNRTTHQDDYPIKGLVKTISCKPLAMPKLCNIPLEDVTNYKMSYVAHPVEK
                     RFVHEAEKFRPCEIPFESLTTQKQSYRGLMGEPAKSLKPLARPPGLDMPFCNTTEFRD
                     KYQAWPMPRMFSKAPITYVPPEDRMDLLTTVQAHYTCPKGAPAQSCRPALQIKKCGRF
                     EGSSTTKDDYKQWSSMRTEPVKPVPQLDLPTEPLDCLTTTRAHYVPHLPINTKSCKPH
                     WSGPRGNVPVESQTTYTISFTPKEMGRCLASYPEPPGYTFEEVDALGHRIYKPVSQAG
                     SQQSSHLSVDDSENPNQRELEVLA"
     exon            340..519
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /inference="alignment:Splign:2.1.0"
     exon            520..722
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /inference="alignment:Splign:2.1.0"
     exon            723..2128
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1865..1870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /note="hexamer: AATAAA"
     polyA_site      1885
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /note="major polyA site"
     regulatory      2096..2101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
                     /note="hexamer: AATAAA"
     polyA_site      2128
                     /gene="SAXO1"
                     /gene_synonym="C9orf138; FAM154A"
ORIGIN      
        1 agtcagccgc tccaggtgct taagtctgga ctgcggaggc cggggcggtg gcgtgcaggg
       61 tgaggtctcc cgggctggcg cgcgtgcaag ccccctgctg ctacctcgcg ctaggccagc
      121 tccaggaggg caacagacga caggacattg caaaagggcc acttaaattt tccttcgagt
      181 aaacagaaca cctgccaaga ccctcgagcc tgggcgtgcc ccaagacagg tggttggggt
      241 ctaggagtcg gctgcagctg gcgatgctct gaggggacgt cagggcctca ggatcgcccc
      301 tatgaagacg aagtgcatct gtgaactgtg ctcctgcggg cggcatcact gtccacatct
      361 ccctaccaag atttatgata aaacagagaa accatgtctt ctctccgaat ataccgagaa
      421 ctaccctttc tatcactcct acctgcccag agagtccttc aagccaaggc gggagtacca
      481 gaaagggcct ataccaatgg aaggcctgac tacatcaagg agagattttg ggcctcacaa
      541 agtggcacca gtgaaggtcc accagtatga ccagttcgtc ccgagtgaag agaatatgga
      601 tttgctcacg acgtataaga aagattacaa tccctaccct gtctgtcgag tggaccccat
      661 caaacctcgg gacagtaaat atccatgtag cgacaagatg gagtgtttgc ctacttataa
      721 agctgattat ttgccttgga accaaccaag gcgagagcca cttcgtctgg aacacaaata
      781 ccagccggca tcagtcaggt ttgataacag aaccacacac caggacgatt accccataaa
      841 aggccttgtg aagaccataa gctgtaaacc tctggccatg ccaaagctct gtaacatccc
      901 cttggaggat gtgactaact acaagatgag ctatgtggcc caccccgtgg agaagcgctt
      961 tgtgcatgaa gcagagaagt tcaggccctg tgaaatcccc tttgaaagcc ttaccactca
     1021 aaaacaatcc taccggggcc tgatggggga gcctgccaag agcttgaaac ctctagccag
     1081 gcctcctggg ctagacatgc ctttctgtaa caccactgag tttcgagata agtaccaagc
     1141 ttggccaatg ccccggatgt tctccaaagc tcccatcacc tacgtccctc ccgaagacag
     1201 gatggatctt ctgacaacag tgcaggccca ttacacatgc cctaagggtg ccccagctca
     1261 gtcctgccga cctgcacttc agattaagaa gtgcggtcgc tttgaaggct cttccaccac
     1321 caaggatgac tacaagcagt ggtccagcat gcgcacagag ccagtcaagc ccgttcccca
     1381 gctggacttg cccaccgagc ccctggactg cctgaccacc actcgggccc actatgtgcc
     1441 ccacctgcct atcaatacca aaagctgtaa gcctcattgg tctggccctc gaggaaatgt
     1501 ccctgtggaa agccagacca cctacaccat cagctttact cccaaggaaa tgggcaggtg
     1561 cctagcttca tatcctgagc ctcctggcta cacctttgag gaagtggatg ctttgggtca
     1621 caggatatac aaaccagttt cccaggcagg ctctcagcag agcagccatc tttctgtaga
     1681 tgattcagaa aaccccaacc agagggagtt ggaagtgtta gcctgatttt gaaaaatagt
     1741 aatttagaaa ttacacagta cttttaaaag cagacaactg agaattattt gttggacaaa
     1801 aaagaattcc ctaaaatgac aaaaaacaaa aaacaaaaaa ccttcaccac ttccagagca
     1861 cttgaataaa atgagaatca cttgactcag ggaaaatgac atttaatcac cggctaatta
     1921 actcccctta ccttctcctt tactgcatcc ccaccccgtt tcaggtcctt tactttgtgc
     1981 ttatggaatc aaagttggtc tgtgagggtt tctctgatcc agatgtattt tattaattta
     2041 atcattgtat gaactgacat aatgattaac ccttgccaag tatgaagcgc caaagaataa
     2101 attttatttt ggggggaatg aatctgta
//
