LOCUS       NM_031955               2074 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.
ACCESSION   NM_031955
VERSION     NM_031955.6
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 2074)
  AUTHORS   Sujit,K.M., Pallavi,S., Singh,V., Andrabi,S.W., Trivedi,S.,
            Sankhwar,S.N., Gupta,G. and Rajender,S.
  TITLE     SPATA16 promoter hypermethylation and downregulation in male
            infertility
  JOURNAL   Andrologia 54 (10), e14548 (2022)
   PUBMED   36177775
  REMARK    GeneRIF: SPATA16 promoter hypermethylation and downregulation in
            male infertility.
REFERENCE   2  (bases 1 to 2074)
  AUTHORS   Behvarz,M., Rahmani,S.A., Siasi Torbati,E., Danaei Mehrabad,S. and
            Bikhof Torbati,M.
  TITLE     Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with
            idiopathic azoospermia and oligospermia risk in Iranian population
  JOURNAL   BMC Med Genomics 15 (1), 47 (2022)
   PUBMED   35248021
  REMARK    GeneRIF: Association of CATSPER1, SPATA16 and TEX11 genes
            polymorphism with idiopathic azoospermia and oligospermia risk in
            Iranian population.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2074)
  AUTHORS   Ghedir,H., Braham,A., Viville,S., Saad,A. and Ibala-Romdhane,S.
  TITLE     Comparison of sperm morphology and nuclear sperm quality in
            SPATA16- and DPY19L2-mutated globozoospermic patients
  JOURNAL   Andrologia 51 (6), e13277 (2019)
   PUBMED   30912172
  REMARK    GeneRIF: Study showed that SPATA16 defects could be associated with
            an abnormal meiosis leading to a particular morphological sperm
            defect of double/multiple round-headed and multi-flagella and a
            higher sperm aneuploidy rate than in case of DPY19L2-defects in
            classic globozoospermia.
REFERENCE   4  (bases 1 to 2074)
  AUTHORS   Fujihara,Y., Oji,A., Larasati,T., Kojima-Kita,K. and Ikawa,M.
  TITLE     Human Globozoospermia-Related Gene Spata16 Is Required for Sperm
            Formation Revealed by CRISPR/Cas9-Mediated Mouse Models
  JOURNAL   Int J Mol Sci 18 (10), 2208 (2017)
   PUBMED   29065458
  REMARK    GeneRIF: This study demonstrates that Spata16 is indispensable for
            male fertility in mice, as well as in humans.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2074)
  AUTHORS   Karaca,N., Yilmaz,R., Kanten,G.E., Kervancioglu,E., Solakoglu,S.
            and Kervancioglu,M.E.
  TITLE     First successful pregnancy in a globozoospermic patient having
            homozygous mutation in SPATA16
  JOURNAL   Fertil Steril 102 (1), 103-107 (2014)
   PUBMED   24825417
  REMARK    GeneRIF: Case Report: report of a pregnancy obtained in a man with
            homozygous SPATA16 mutated globozoospermia.
REFERENCE   6  (bases 1 to 2074)
  AUTHORS   Tao,S., Wang,Z., Feng,J., Hsu,F.C., Jin,G., Kim,S.T., Zhang,Z.,
            Gronberg,H., Zheng,L.S., Isaacs,W.B., Xu,J. and Sun,J.
  TITLE     A genome-wide search for loci interacting with known prostate
            cancer risk-associated genetic variants
  JOURNAL   Carcinogenesis 33 (3), 598-603 (2012)
   PUBMED   22219177
REFERENCE   7  (bases 1 to 2074)
  AUTHORS   Dam,A.H., Koscinski,I., Kremer,J.A., Moutou,C., Jaeger,A.S.,
            Oudakker,A.R., Tournaye,H., Charlet,N., Lagier-Tourenne,C., van
            Bokhoven,H. and Viville,S.
  TITLE     Homozygous mutation in SPATA16 is associated with male infertility
            in human globozoospermia
  JOURNAL   Am J Hum Genet 81 (4), 813-820 (2007)
   PUBMED   17847006
  REMARK    GeneRIF: consanguineous family with three affected brothers, in
            whom we have identified a homozygous mutation in the
            spermatogenesis-specific gene SPATA16. This is the first example of
            a nonsyndromic male infertility condition caused by an autosomal
            gene defect.
REFERENCE   8  (bases 1 to 2074)
  AUTHORS   Zhang,Q., Zhang,F., Chen,X.H., Wang,Y.Q., Wang,W.Q., Lin,A.A.,
            Cavalli-Sforza,L.L., Jin,L., Huo,R., Sha,J.H., Li,Z. and Su,B.
  TITLE     Rapid evolution, genetic variations, and functional association of
            the human spermatogenesis-related gene NYD-SP12
  JOURNAL   J Mol Evol 65 (2), 154-161 (2007)
   PUBMED   17665087
  REMARK    GeneRIF: Results indicate that NYD-SP12 evolves rapidly in both the
            human and the chimpanzee lineages, which is likely caused by
            Darwinian positive selection and/or sexual selection.
REFERENCE   9  (bases 1 to 2074)
  AUTHORS   Lu,L., Lin,M., Xu,M., Zhou,Z.M. and Sha,J.H.
  TITLE     Gene functional research using polyethylenimine-mediated in vivo
            gene transfection into mouse spermatogenic cells
  JOURNAL   Asian J Androl 8 (1), 53-59 (2006)
   PUBMED   16372119
  REMARK    GeneRIF: study demonstrated NYD-SP12 protein was involved in the
            formation of the acrosome during spermatogenesis
REFERENCE   10 (bases 1 to 2074)
  AUTHORS   Xu,M., Xiao,J., Chen,J., Li,J., Yin,L., Zhu,H., Zhou,Z. and Sha,J.
  TITLE     Identification and characterization of a novel human
            testis-specific Golgi protein, NYD-SP12
  JOURNAL   Mol Hum Reprod 9 (1), 9-17 (2003)
   PUBMED   12529416
  REMARK    GeneRIF: results suggest that NYD-SP12 is involved in
            spermatogenesis, and that NYD-SP12-encoded protein might function
            in the Golgi apparatus
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI829426.1, BC034496.2 and
            AC063933.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_031955.5.
            
            Summary: This gene encodes a testis-specific protein that belongs
            to the tetratricopeptide repeat-like superfamily. The encoded
            protein localizes to the Golgi apparatus and may play a role in
            spermatogenesis. [provided by RefSeq, May 2010].
            
            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 :: SRR5189667.267818.1,
                                           SRR5189667.167378.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000351008.4/ ENSP00000341765.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                BI829426.1         34-98
            66-419              BC034496.2         1-354
            420-420             AC063933.13        136630-136630       c
            421-2074            BC034496.2         356-2009
FEATURES             Location/Qualifiers
     source          1..2074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
     gene            1..2074
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /note="spermatogenesis associated 16"
                     /db_xref="GeneID:83893"
                     /db_xref="HGNC:HGNC:29935"
                     /db_xref="MIM:609856"
     exon            1..133
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            134..763
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     CDS             152..1861
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /note="testis-specific Golgi protein; testis development
                     protein NYD-SP12; testicular tissue protein Li 185"
                     /codon_start=1
                     /product="spermatogenesis-associated protein 16"
                     /protein_id="NP_114161.3"
                     /db_xref="CCDS:CCDS3221.1"
                     /db_xref="GeneID:83893"
                     /db_xref="HGNC:HGNC:29935"
                     /db_xref="MIM:609856"
                     /translation="MDAGSSRSLENAVNRIYHDQLVPKINTSKKMSTLAHPPNILEMS
                     QEIKKNCGGKQVEITLERTKMTKGIKEKQSNDLEKAAFKRKAEGEEKPTRKKQAKITE
                     LDNQLITMPLPHIPLKNIMDVEMKLVYIDEMGVRYEFVESFMSTGSQPTCQAAEIVDP
                     LSVHNFSFLPQIDKWLQVALKDASSCYRQKKYALAAGQFRTALELCSKGAVLGEPFDA
                     PAEDIASVASFIETKLVTCYLRMRKPDLALNHAHRSIVLNPAYFRNHLRQATVFRCLE
                     RYSEAARSAMIADYMFWLGGGREESISKLIKLYWQAMIEEAITRAESFSVMYTPFATK
                     IRADKIEKVKDAFTKTHPAYAEYMYTDLQALHMLPQTVDWSSFPPQQYLLTLGFKNKD
                     DGKFLEKISSRKLPIFTEHKTPFGLTREDTVRQMETMGKRILPILDFIRSTQLNGSFP
                     ASSGVMEKLQYASLLSQLQRVKEQSQVINQAMAELATIPYLQDISQQEAELLQSLMAD
                     AMDTLEGRRNNNERVWNMIQKVGQIEDFLYQLEDSFLKTKKLRTARRQKTKMKRLQTV
                     QQR"
     exon            764..909
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            910..999
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1084
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1232
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1379
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1489
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..1654
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1655..1738
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..2074
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2046..2051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /note="hexamer: AATAAA"
     polyA_site      2074
                     /gene="SPATA16"
                     /gene_synonym="NYD-SP12; SPGF6"
                     /note="major polyA site"
ORIGIN      
        1 ggcgtccccg cgagcaagca gcctgatcag gcctcgcagt gggacgttgg gaagccggtg
       61 ttggcagatg ctgtggctgg gaggagtcca gagcttcgcc ctgtccccgc ggggctgagc
      121 cacaactgct taggagtttt gggcaggatc gatggatgca ggaagcagta ggagtttgga
      181 gaatgcagtg aataggatct atcatgatca gcttgttcca aagataaaca caagcaagaa
      241 aatgtccacc ttagcgcacc cacctaacat cctggaaatg tcacaagaga ttaagaaaaa
      301 ctgtggaggt aaacaggtag aaatcacact tgaaagaaca aaaatgacaa agggcatcaa
      361 agaaaaacaa agcaatgatt tagagaaagc agcctttaaa cggaaggcag aaggtgaaga
      421 aaagccaact agaaagaaac aggcaaagat aacagaactt gacaatcagt taatcaccat
      481 gcctctgcct cacatcccct taaagaacat aatggatgtg gaaatgaagt tggtctacat
      541 tgatgaaatg ggtgttcgct atgagtttgt agagtccttc atgtctactg ggagtcagcc
      601 aacatgccaa gctgctgaaa tagtagaccc tttgagtgta cataatttca gctttctgcc
      661 tcagattgac aaatggcttc aggtagcctt aaaggatgcc agctcttgct atagacaaaa
      721 gaaatacgcc ttggcagcag gacagttcag aacagcactt gagctttgca gcaaaggagc
      781 agttctggga gaaccatttg atgcacctgc tgaagatata gcaagcgtgg caagtttcat
      841 tgagacaaag cttgttacct gttatctacg gatgaggaaa ccagatcttg ccctgaatca
      901 tgcacacagg agcattgttt taaacccagc ctatttccgg aatcatcttc gtcaagcaac
      961 agtgtttaga tgtctggaga ggtattcaga ggctgcccgg agtgccatga ttgctgacta
     1021 catgttctgg cttggtggag gaagggaaga gagcataagc aagctcatca aactgtattg
     1081 gcaggccatg attgaggaag ccatcaccag agctgaatct ttctcggtta tgtacacacc
     1141 atttgcgaca aaaataagag ctgataaaat agaaaaagta aaagatgctt tcacaaaaac
     1201 tcatcctgca tatgcagagt atatgtacac agatcttcaa gcactccaca tgttgcctca
     1261 gacagttgac tggtcatctt ttcctcccca acaatatctc ttgactcttg ggttcaaaaa
     1321 caaagatgat ggaaaatttt tggaaaaaat atcaagcagg aagctgccga tattcacaga
     1381 gcataaaaca cctttcggtc tgaccagaga agatacagtg aggcaaatgg agacaatggg
     1441 gaagcgaatc ttgccaatat tggattttat tagaagcacc caattgaatg ggagttttcc
     1501 tgcatcctca ggtgtgatgg agaagttgca atatgccagc ctcctcagcc agctgcagag
     1561 agtaaaggag cagtcccagg tgattaatca agcaatggca gagctagcaa ccattcccta
     1621 cctacaggac atcagtcaac aggaggcaga attgctgcag tcactaatgg cagatgctat
     1681 ggacaccctt gaaggaagaa gaaacaataa tgaacgtgtg tggaatatga tccaaaaggt
     1741 tggacaaatt gaagattttc tataccaatt agaggacagt ttcttaaaaa ctaaaaaact
     1801 gagaactgct cgaaggcaaa aaacaaaaat gaagcgactt caaactgttc agcaaaggta
     1861 gtcattaggg agcaggcact accactaaga tatcccagaa gaagaggcaa gggcatccac
     1921 tccaatgccc acctagtact gtgaagctgg ataacaaaag cttgtcacca aaagaaagag
     1981 gtggtattcc cctcagttca tctttaccaa agacactcta tgtttcatta atctcaactg
     2041 gcagcaataa atattctcag caagtttgac ttga
//
