LOCUS       NM_024532               2102 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens sperm associated antigen 16 (SPAG16), transcript
            variant 1, mRNA.
ACCESSION   NM_024532
VERSION     NM_024532.5
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 2102)
  AUTHORS   Lin,Q., Zhou,B., Song,X., Ye,W., Li,Q., Shi,T., Cheng,C., Li,Y. and
            Wei,X.
  TITLE     Genetic variant in SPAG16 is associated with the susceptibility of
            ACPA-positive rheumatoid arthritis possibly via regulation of MMP-3
  JOURNAL   J Orthop Surg Res 17 (1), 511 (2022)
   PUBMED   36434627
  REMARK    GeneRIF: Genetic variant in SPAG16 is associated with the
            susceptibility of ACPA-positive rheumatoid arthritis possibly via
            regulation of MMP-3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2102)
  AUTHORS   Stevanovic,N., Skakic,A., Minic,P., Sovtic,A., Stojiljkovic,M.,
            Pavlovic,S. and Andjelkovic,M.
  TITLE     Identification and Classification of Novel Genetic Variants: En
            Route to the Diagnosis of Primary Ciliary Dyskinesia
  JOURNAL   Int J Mol Sci 22 (16), 8821 (2021)
   PUBMED   34445527
  REMARK    GeneRIF: Identification and Classification of Novel Genetic
            Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2102)
  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   4  (bases 1 to 2102)
  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   5  (bases 1 to 2102)
  AUTHORS   Zhang,L., Liu,Y., Li,W., Zhang,Q., Li,Y., Liu,J., Min,J.,
            Shuang,C., Song,S. and Zhang,Z.
  TITLE     Transcriptional regulation of human sperm-associated antigen 16
            gene by S-SOX5
  JOURNAL   BMC Mol Biol 18 (1), 2 (2017)
   PUBMED   28137312
  REMARK    GeneRIF: Short-SOX5 regulates transcription of human SPAG16L gene
            via directly binding to the promoter of SPAG16L.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2102)
  AUTHORS   Nagarkatti-Gude,D.R., Collodel,G., Hill,L.D., Moretti,E.,
            Geminiani,M., Zhang,Z. and Strauss,J.F. 3rd.
  TITLE     Genetic variation in SPAG16 regions encoding the WD40 repeats is
            not associated with reduced sperm motility and axonemal defects in
            a population of infertile males
  JOURNAL   BMC Urol 12, 27 (2012)
   PUBMED   22963137
  REMARK    GeneRIF: Analysis of SPAG16 regions encoding conserved WD repeats
            revealed no evidence for association of mutations or genetic
            variation with sperm motility in infertile males.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2102)
  AUTHORS   Hersh,C.P., Pillai,S.G., Zhu,G., Lomas,D.A., Bakke,P., Gulsvik,A.,
            DeMeo,D.L., Klanderman,B.J., Lazarus,R., Litonjua,A.A., Sparrow,D.,
            Reilly,J.J., Agusti,A., Calverley,P.M., Donner,C.F., Levy,R.D.,
            Make,B.J., Pare,P.D., Rennard,S.I., Vestbo,J., Wouters,E.F.,
            Scholand,M.B., Coon,H., Hoidal,J. and Silverman,E.K.
  TITLE     Multistudy fine mapping of chromosome 2q identifies XRCC5 as a
            chronic obstructive pulmonary disease susceptibility gene
  JOURNAL   Am J Respir Crit Care Med 182 (5), 605-613 (2010)
   PUBMED   20463177
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2102)
  AUTHORS   Zhang,Z., Zariwala,M.A., Mahadevan,M.M., Caballero-Campo,P.,
            Shen,X., Escudier,E., Duriez,B., Bridoux,A.M., Leigh,M.,
            Gerton,G.L., Kennedy,M., Amselem,S., Knowles,M.R. and Strauss,J.F.
            3rd.
  TITLE     A heterozygous mutation disrupting the SPAG16 gene results in
            biochemical instability of central apparatus components of the
            human sperm axoneme
  JOURNAL   Biol Reprod 77 (5), 864-871 (2007)
   PUBMED   17699735
  REMARK    GeneRIF: Heterozygous mutation that affects both SPAG16L and
            SPAG16S does not cause male infertility in man, but is associated
            with reduced stability of the interacting proteins of the central
            apparatus.
REFERENCE   9  (bases 1 to 2102)
  AUTHORS   Zhang,Z., Sapiro,R., Kapfhamer,D., Bucan,M., Bray,J.,
            Chennathukuzhi,V., McNamara,P., Curtis,A., Zhang,M.,
            Blanchette-Mackie,E.J. and Strauss,J.F. 3rd.
  TITLE     A sperm-associated WD repeat protein orthologous to Chlamydomonas
            PF20 associates with Spag6, the mammalian orthologue of
            Chlamydomonas PF16
  JOURNAL   Mol Cell Biol 22 (22), 7993-8004 (2002)
   PUBMED   12391165
  REMARK    GeneRIF: Data describe the cloning of human and mouse Pf20 proteins
            that interact with Spag6 protein.
REFERENCE   10 (bases 1 to 2102)
  AUTHORS   Pennarun,G., Bridoux,A.M., Escudier,E., Dastot-Le Moal,F.,
            Cacheux,V., Amselem,S. and Duriez,B.
  TITLE     Isolation and expression of the human hPF20 gene orthologous to
            Chlamydomonas PF20: evaluation as a candidate for axonemal defects
            of respiratory cilia and sperm flagella
  JOURNAL   Am J Respir Cell Mol Biol 26 (3), 362-370 (2002)
   PUBMED   11867345
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF310672.1, AK302351.1 and AF490390.1.
            
            On Nov 22, 2018 this sequence version replaced NM_024532.4.
            
            Summary: Cilia and flagella are comprised of a microtubular
            backbone, the axoneme, which is organized by the basal body and
            surrounded by plasma membrane. SPAG16 encodes 2 major proteins that
            associate with the axoneme of sperm tail and the nucleus of
            postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed
            17699735]).[supplied by OMIM, Jul 2008].
            
            Transcript Variant: This variant (1) 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 :: AF490390.1, AF310672.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331683.10/ ENSP00000332592.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1293              AF310672.1         23-1315
            1294-1977           AK302351.1         1202-1885
            1978-2102           AF490390.1         1993-2117
FEATURES             Location/Qualifiers
     source          1..2102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     gene            1..2102
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /note="sperm associated antigen 16"
                     /db_xref="GeneID:79582"
                     /db_xref="HGNC:HGNC:23225"
                     /db_xref="MIM:612173"
     exon            1..156
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..1916
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /note="isoform 1 is encoded by transcript variant 1; WD
                     repeat domain 29; sperm-associated antigen 16 protein;
                     sperm-associated WD repeat protein; pf20 protein homolog"
                     /codon_start=1
                     /product="sperm-associated antigen 16 protein isoform 1"
                     /protein_id="NP_078808.3"
                     /db_xref="CCDS:CCDS2396.1"
                     /db_xref="GeneID:79582"
                     /db_xref="HGNC:HGNC:23225"
                     /db_xref="MIM:612173"
                     /translation="MAAQRGMPSSAVRVLEEALGMGLTAAGDARDTADAVAAEGAYYL
                     EQVTITEASEDDYEYEEIPDDNFSIPEGEEDLAKAIQMAQEQATDTEILERKTVLPSK
                     HAVPEVIEDFLCNFLIKMGMTRTLDCFQSEWYELIQKGVTELRTVGNVPDVYTQIMLL
                     ENENKNLKKDLKHYKQAADKAREDLLKIQKERDFHRMHHKRIVQEKNKLINDLKGLKL
                     HYASYEPTIRVLHEKHHTLLKEKMLTSLERDKVVGQISGLQETLKKLQRGHSYHGPQI
                     KVDHSREKENAPEGPTQKGLREAREQNKCKTKMKGNTKDSEFPIDMQPNPNLNVSKES
                     LSPAKFDYKLKNIFRLHELPVSCVSMQPHKDILVSCGEDRLWKVLGLPKCNVLLTGFG
                     HTDWLSDCCFHPSGDKLATSSGDTTVKLWDLCKGDCILTFEGHSRAVWSCTWHSCGNF
                     VASSSLDKTSKIWDVNSERCRCTLYGHTDSVNSIEFFPFSNTLLTSSADKTLSIWDAR
                     TGICEQSLYGHMHSINDAIFDPRGHMIASCDACGVTKLWDFRKLLPIVSIDIGPSPGN
                     EVNFDSSGRVLAQASGNGVIHLLDLKSGEIHKLMGHENEAHTVVFSHDGEILFSGGSD
                     GTVRTWS"
     exon            157..203
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            204..299
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            300..418
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            419..556
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            557..664
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            665..782
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            783..852
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            853..962
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1090
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1234
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1420
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1547
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1613
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..1740
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..2102
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2079..2084
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /note="hexamer: AATAAA"
     polyA_site      2102
                     /gene="SPAG16"
                     /gene_synonym="PF20; WDR29"
                     /note="major polyA site"
ORIGIN      
        1 gggggcccga agcgccagag atggctgctc agcgagggat gcccagctcc gccgtgaggg
       61 tcctggaaga ggcgttgggc atgggtttga cggcagccgg ggacgcgagg gacacggcgg
      121 acgcggtggc ggctgagggc gcctactacc tggaacaggt caccataact gaagcatctg
      181 aagatgacta tgaatatgaa gagataccag atgacaattt tagcatccca gaaggtgaag
      241 aagatctggc aaaagcaatt cagatggccc aagaacaggc tacagatact gaaattttgg
      301 aacggaaaac agttcttcct tcaaagcatg cagtacctga agtaatagaa gactttctct
      361 gcaatttctt gatcaaaatg ggaatgacca gaactcttga ttgctttcag tctgaatggt
      421 atgagttaat acagaaagga gtgactgaac ttagaactgt tgggaatgtt ccagatgtct
      481 acacccagat tatgcttttg gaaaatgaga acaaaaattt aaagaaagat ttgaagcact
      541 acaaacaagc agctgacaaa gctagagaag atttgctgaa aattcagaaa gaacgtgatt
      601 ttcatcgaat gcatcataag cgaatagtcc aggaaaaaaa caaattaatt aatgacctca
      661 aagggttgaa gttacattat gcatcttatg aaccgactat aagggtgtta catgagaaac
      721 accacacttt actgaaggag aaaatgctga cctccttgga aagagacaaa gtagttgggc
      781 agatttctgg acttcaagaa acattgaaga aactgcaaag aggacatagt taccatggtc
      841 ctcaaattaa agttgatcat agtcgtgaaa aagaaaatgc accagaaggt cctactcaga
      901 aaggtcttcg tgaagccagg gaacaaaaca aatgtaaaac aaagatgaaa ggcaatacaa
      961 aggattcaga atttcccata gatatgcaac caaatccaaa cctgaatgtt tctaaagaaa
     1021 gtctttctcc agcaaaattt gactacaagc tgaaaaacat ttttagactc catgaacttc
     1081 cagtgagctg tgtctccatg caaccccaca aagacatcct agtctcctgt ggcgaggacc
     1141 gactctggaa ggtgttgggc cttccaaaat gcaatgtgct tctcacggga tttggccaca
     1201 ctgactggct ttcagactgc tgcttccatc ccagtggcga caaattggct acttcaagtg
     1261 gtgacactac agttaaatta tgggatctat gtaaaggcga ttgcattttg acctttgaag
     1321 gacacagccg cgcagtgtgg tcctgcacat ggcactcctg cggcaatttt gtggcttcct
     1381 cctcactgga taaaactagc aaaatttggg atgttaatag tgaaagatgc agatgtactt
     1441 tgtatggaca tacagattct gtgaacagca ttgagttttt tcctttctcc aatactcttc
     1501 tcacaagctc tgcagacaag accctgtcta tatgggatgc aagaacaggt atatgtgagc
     1561 agtcacttta tggtcacatg cattctatca atgatgccat ttttgatccc aggggtcaca
     1621 tgatagcatc ctgtgatgcc tgtggggtta caaagctgtg ggactttcgg aagctgttac
     1681 caattgtgtc catcgatata ggtccaagtc ctggcaatga ggtgaatttt gattcatcag
     1741 gtcgagtttt agctcaggca agtggcaatg gtgttatcca tttgctagat cttaaatctg
     1801 gggagattca caaattgatg ggccacgaaa acgaggcaca cacggttgtg ttttctcacg
     1861 acggggagat tctcttttct ggaggctctg acggcacagt tcgaacgtgg tcttgaccgt
     1921 cagcacatcc cgctgcagag ggcattccct ttaaggcttg aaaatgcctc ctgtagtccc
     1981 aaaccagcaa agaactggtt aaatgtgcca gcaggtaaca tttacagtct gctttaaaac
     2041 atgctttgga catatatttt agtgctcata ctgttactaa taaaaaaata actttatgct
     2101 ca
//
