LOCUS       NM_012443               2568 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant
            1, mRNA.
ACCESSION   NM_012443
VERSION     NM_012443.4
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 2568)
  AUTHORS   Zhao,B., Yin,J., Ding,L., Luo,J., Luo,J., Mu,J., Pan,S., Du,J.,
            Zhong,Y., Zhang,L. and Liu,L.
  TITLE     SPAG6 regulates cell proliferation and apoptosis via TGF-beta/Smad
            signal pathway in adult B-cell acute lymphoblastic leukemia
  JOURNAL   Int J Hematol 119 (2), 119-129 (2024)
   PUBMED   38147275
  REMARK    GeneRIF: SPAG6 regulates cell proliferation and apoptosis via
            TGF-beta/Smad signal pathway in adult B-cell acute lymphoblastic
            leukemia.
REFERENCE   2  (bases 1 to 2568)
  AUTHORS   Mu,J., Yuan,P., Luo,J., Chen,Y., Tian,Y., Ding,L., Zhao,B.,
            Wang,X., Wang,B. and Liu,L.
  TITLE     Upregulated SPAG6 promotes acute myeloid leukemia progression
            through MYO1D that regulates the EGFR family expression
  JOURNAL   Blood Adv 6 (18), 5379-5394 (2022)
   PUBMED   35667090
  REMARK    GeneRIF: Upregulated SPAG6 promotes acute myeloid leukemia
            progression through MYO1D that regulates the EGFR family
            expression.
REFERENCE   3  (bases 1 to 2568)
  AUTHORS   Xu,C., Tang,D., Shao,Z., Geng,H., Gao,Y., Li,K., Tan,Q., Wang,G.,
            Wang,C., Wu,H., Li,G., Lv,M., He,X. and Cao,Y.
  TITLE     Homozygous SPAG6 variants can induce nonsyndromic
            asthenoteratozoospermia with severe MMAF
  JOURNAL   Reprod Biol Endocrinol 20 (1), 41 (2022)
   PUBMED   35232447
  REMARK    GeneRIF: Homozygous SPAG6 variants can induce nonsyndromic
            asthenoteratozoospermia with severe MMAF.
            Erratum:[Reprod Biol Endocrinol. 2022 Apr 29;20(1):74. doi:
            10.1186/s12958-022-00939-w.. PMID: 35488345]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2568)
  AUTHORS   Skou,A.S., Juul-Dam,K.L., Hansen,M., Lausen,B., Stratmann,S.,
            Holmfeldt,L., Aggerholm,A., Nyvold,C.G., Ommen,H.B. and Hasle,H.
  TITLE     Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and
            XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse
            in Childhood Acute Myeloid Leukemia
  JOURNAL   J Mol Diagn 23 (12), 1787-1799 (2021)
   PUBMED   34600138
  REMARK    GeneRIF: Measurable Residual Disease Monitoring of SPAG6, ST18,
            PRAME, and XAGE1A Expression in Peripheral Blood May Detect
            Imminent Relapse in Childhood Acute Myeloid Leukemia.
REFERENCE   5  (bases 1 to 2568)
  AUTHORS   Zhang,R., Zhu,H., Yuan,Y., Wang,Y. and Tian,Z.
  TITLE     SPAG6 promotes cell proliferation and inhibits apoptosis through
            the PTEN/PI3K/AKT pathway in Burkitt lymphoma
  JOURNAL   Oncol Rep 44 (5), 2021-2030 (2020)
   PUBMED   33000212
  REMARK    GeneRIF: SPAG6 promotes cell proliferation and inhibits apoptosis
            through the PTEN/PI3K/AKT pathway in Burkitt lymphoma.
REFERENCE   6  (bases 1 to 2568)
  AUTHORS   Sapiro,R., Kostetskii,I., Olds-Clarke,P., Gerton,G.L., Radice,G.L.
            and Strauss,I.I.I. JF.
  TITLE     Male infertility, impaired sperm motility, and hydrocephalus in
            mice deficient in sperm-associated antigen 6
  JOURNAL   Mol Cell Biol 22 (17), 6298-6305 (2002)
   PUBMED   12167721
REFERENCE   7  (bases 1 to 2568)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (bases 1 to 2568)
  AUTHORS   Neilson,L.I., Schneider,P.A., Van Deerlin,P.G., Kiriakidou,M.,
            Driscoll,D.A., Pellegrini,M.C., Millinder,S., Yamamoto,K.K.,
            French,C.K. and Strauss,J.F. 3rd.
  TITLE     cDNA cloning and characterization of a human sperm antigen (SPAG6)
            with homology to the product of the Chlamydomonas PF16 locus
  JOURNAL   Genomics 60 (3), 272-280 (1999)
   PUBMED   10493827
REFERENCE   9  (bases 1 to 2568)
  AUTHORS   Diekman,A.B. and Herr,J.C.
  TITLE     Sperm antigens and their use in the development of an
            immunocontraceptive
  JOURNAL   Am J Reprod Immunol 37 (1), 111-117 (1997)
   PUBMED   9138444
  REMARK    Review article
REFERENCE   10 (bases 1 to 2568)
  AUTHORS   Smith,E.F. and Lefebvre,P.A.
  TITLE     The role of central apparatus components in flagellar motility and
            microtubule assembly
  JOURNAL   Cell Motil Cytoskeleton 38 (1), 1-8 (1997)
   PUBMED   9295136
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB025758.1, AF079363.1 and
            BC030585.2.
            
            On Nov 22, 2018 this sequence version replaced NM_012443.3.
            
            Summary: The correlation of anti-sperm antibodies with cases of
            unexplained infertility implicates a role for these antibodies in
            blocking fertilization. Improved diagnosis and treatment of
            immunologic infertility, as well as identification of proteins for
            targeted contraception, are dependent on the identification and
            characterization of relevant sperm antigens. The protein expressed
            by this gene is recognized by anti-sperm antibodies from an
            infertile man. This protein localizes to the tail of permeabilized
            human sperm and contains eight contiguous armadillo repeats, a
            motif known to mediate protein-protein interactions. Studies in
            mice suggest that this protein is involved in sperm flagellar
            motility and maintenance of the structural integrity of mature
            sperm. Several transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: AL080136.1, AF079363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376624.8/ ENSP00000365811.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               DB025758.1         36-150
            116-2184            AF079363.1         124-2192
            2185-2568           BC030585.2         2038-2421
FEATURES             Location/Qualifiers
     source          1..2568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.2"
     gene            1..2568
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /note="sperm associated antigen 6"
                     /db_xref="GeneID:9576"
                     /db_xref="HGNC:HGNC:11215"
                     /db_xref="MIM:605730"
     exon            1..141
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..1646
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /note="isoform 1 is encoded by transcript variant 1; sperm
                     flagellar protein; axoneme central apparatus protein;
                     protein PF16 homolog; testicular tissue protein Li 176"
                     /codon_start=1
                     /product="sperm-associated antigen 6 isoform 1"
                     /protein_id="NP_036575.1"
                     /db_xref="CCDS:CCDS7139.1"
                     /db_xref="GeneID:9576"
                     /db_xref="HGNC:HGNC:11215"
                     /db_xref="MIM:605730"
                     /translation="MSQRQVLQVFEQYQKARTQFVQMVAELATRPQNIETLQNAGVMS
                     LLRTLLLDVVPTIQQTAALALGRLANYNDDLAEAVVKCDILPQLVYSLAEQNRFYKKA
                     AAFVLRAVGKHSPQLAQAIVDCGALDTLVICLEDFDPGVKEAAAWALRYIARHNAELS
                     QAVVDAGAVPLLVLCIQEPEIALKRIAASALSDIAKHSPELAQTVVDAGAVAHLAQMI
                     LNPDAKLKHQILSALSQVSKHSVDLAEMVVEAEIFPVVLTCLKDKDEYVKKNASTLIR
                     EIAKHTPELSQLVVNAGGVAAVIDCIGSCKGNTRLPGIMMLGYVAAHSENLAMAVIIS
                     KGVPQLSVCLSEEPEDHIKAAAAWALGQIGRHTPEHARAVAVTNTLPVLLSLYMSTES
                     SEDLQVKSKKAIKNILQKCTYLPALEPFLYDAPPNILKHVVGQFSKVLPHDSKARRLF
                     VTSGGLKKVQEIKAEPGSLLQEYINSINSCYPEEIVRYYSPGYSDTLLQRVDSYQPLN
                     N"
     exon            142..237
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            238..404
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            405..588
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            589..794
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            795..968
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            969..1121
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1313
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..1430
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1576
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..2568
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1702..1707
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /note="hexamer: ATTAAA"
     polyA_site      1725
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /note="major polyA site"
     regulatory      2544..2549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /note="hexamer: AATAAA"
     polyA_site      2568
                     /gene="SPAG6"
                     /gene_synonym="CFAP194; CT141; FAP194; pf16; Repro-SA-1"
                     /note="major polyA site"
ORIGIN      
        1 agagaagcgg ctcccgtcgg aggccgagtc gtcgccacga tcgccccctt ggtggactcg
       61 caggccgagc ggcttccccg cagagctcga ggagggcaga cggcggcggg ggcgccatga
      121 gtcagaggca ggtgctgcaa gtgttcgagc aataccagaa ggccaggacc cagttcgtgc
      181 agatggtggc ggagctggcg actagacccc aaaacatcga gacgctgcag aacgcgggtg
      241 taatgtcttt gctgagaact cttcttctgg acgtggtccc aacaattcaa cagactgctg
      301 ctttggctct tgggagactg gccaattata atgatgacct agcagaagct gttgtgaagt
      361 gcgacattct tccacagctt gtttattcat tggcagaaca gaatcgcttc tacaagaaag
      421 cagctgcctt tgtgttacga gcagttggta aacattctcc ccagctagct caggcaatag
      481 tcgattgtgg agcactggat acgctggtca tatgcttgga agattttgac cctggagtca
      541 aggaggctgc agcctgggca cttagatata ttgcaagaca taatgcagaa ctgtcacaag
      601 ctgtggtgga tgcaggagct gttcctcttt tagtactctg tatccaggag ccagaaattg
      661 ctttgaaaag gattgctgct tcggccctca gtgatattgc aaagcattct ccagagttag
      721 cacagacagt agtggatgca ggagctgttg ctcatttagc ccagatgatc ctgaaccctg
      781 atgctaaatt gaagcatcag atcctttcag ctctcagtca ggtttcaaaa cattccgtgg
      841 atctggcaga aatggttgtt gaagcagaga tttttccagt tgtacttacc tgtctgaagg
      901 acaaggatga atacgtgaag aaaaatgctt ctactttaat tagagagatt gcaaaacata
      961 cacccgagct ttcacagctg gtagttaacg caggaggggt tgctgccgtg attgactgca
     1021 ttgggtcctg caaagggaac acacggctgc ctggcatcat gatgcttggt tatgtagcag
     1081 ctcattctga gaacctagca atggcagtca tcatttctaa gggtgtaccc cagttgtcag
     1141 tctgcttgtc agaagaaccg gaagatcata ttaaggctgc agctgcttgg gccttaggac
     1201 agattggaag acacactcct gaacacgcac gggctgttgc agtcacaaat actttgccag
     1261 ttctgctttc tttgtacatg tcaacagaaa gttctgagga tctccaagta aaaagtaaaa
     1321 aagccataaa gaatatcctg caaaaatgta cctacttacc agcccttgaa ccatttctat
     1381 atgatgctcc tcccaatatt ctgaaacatg tggttggaca gttcagtaag gtgctgccgc
     1441 atgatagcaa agctcgacga ctttttgtaa caagtggtgg ccttaaaaaa gttcaagaga
     1501 taaaagcaga acctggttct ctccttcaag aatacatcaa cagtattaac agttgttacc
     1561 ccgaggaaat agtgaggtat tattcccctg gatattcaga tacacttctg cagagggtgg
     1621 acagctatca accacttaat aactgagcaa agttatattg tgatactcaa attcacagca
     1681 gagtagtttt gagtaacagt aattaaatcc ttctaaatat ttgaactaag tatattctag
     1741 atttatttaa tgggaaatac ctttagataa tattttctaa atttatgtaa tactttaaac
     1801 attcgtagct tgaatatgtg aggaactatt catggtcatt cgcatgcata ggatttgttc
     1861 tacaggtaga ttttaaaaac acgttaaagg gccttaaggc attttgttat tctgttaaaa
     1921 accacacaca ctcgtacatg cagacacctc caatgagata tagttaagag atggcattca
     1981 aaaaccctaa attattctag ccaatttgtc ataggcatag gcaaggaaag ctggccttgc
     2041 taactatata gtagtataca caagagaaat ctttgaagga ggaaactgat gacagatata
     2101 cagggcactt gaaggagact ctgatgctag ttatataagt gcattaactt aagacacgga
     2161 ctctgtgggt aacctgttag gttttactaa gaatttagga aaaatttact cctctttatc
     2221 acaagttttc caaacctcct tccccaccct atctaaagtg ttccttacct ttcatgggcc
     2281 cagcgagggt agaattcaga atagagagtt atactcctgc atacatgctc tccctctcat
     2341 tgaaaggttt cttagtctag ctctgctcat gaatgaacaa agaagcaggc atgtaaaatg
     2401 gatccttgtc ctaacgtcac tttcccaagt ttcaaaagtc acattttcag gtatttaagg
     2461 aatagtttga agctaatacc atcaggctca gagtttacat gcatttttac ttaggaagtg
     2521 gtaaacgggt gaaagagggt ttcaataaaa ttttaaataa aaacagca
//
