LOCUS       NM_001170697            1389 bp    mRNA    linear   PRI 06-NOV-2024
DEFINITION  Homo sapiens spermatogenesis associated 22 (SPATA22), transcript
            variant 4, mRNA.
ACCESSION   NM_001170697
VERSION     NM_001170697.2
KEYWORDS    RefSeq.
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 1389)
  AUTHORS   Xu,Y., Chen,Z., Wu,P., Qu,W., Shi,H., Cheng,M., Xu,Y., Jin,T.,
            Liu,C., Li,Y. and Luo,M.
  TITLE     Nuclear localization of human MEIOB requires its NLS in the OB
            domain and interaction with SPATA22
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 55 (1), 154-161 (2022)
   PUBMED   36331299
  REMARK    GeneRIF: Nuclear localization of human MEIOB requires its NLS in
            the OB domain and interaction with SPATA22.
REFERENCE   2  (bases 1 to 1389)
  AUTHORS   Yao,C., Hou,D., Ji,Z., Pang,D., Li,P., Tian,R., Zhang,Y., Ou,N.,
            Bai,H., Zhi,E., Huang,Y., Qin,Y., Zhao,J., Wang,C., Zhou,Z., Guo,T.
            and Li,Z.
  TITLE     Bi-allelic SPATA22 variants cause premature ovarian insufficiency
            and nonobstructive azoospermia due to meiotic arrest
  JOURNAL   Clin Genet 101 (5-6), 507-516 (2022)
   PUBMED   35285020
  REMARK    GeneRIF: Bi-allelic SPATA22 variants cause premature ovarian
            insufficiency and nonobstructive azoospermia due to meiotic arrest.
REFERENCE   3  (bases 1 to 1389)
  AUTHORS   Wu,Y., Li,Y., Murtaza,G., Zhou,J., Jiao,Y., Gong,C., Hu,C., Han,Q.,
            Zhang,H., Zhang,Y., Shi,B., Ma,H., Jiang,X. and Shi,Q.
  TITLE     Whole-exome sequencing of consanguineous families with infertile
            men and women identifies homologous mutations in SPATA22 and MEIOB
  JOURNAL   Hum Reprod 36 (10), 2793-2804 (2021)
   PUBMED   34392356
  REMARK    GeneRIF: Whole-exome sequencing of consanguineous families with
            infertile men and women identifies homologous mutations in SPATA22
            and MEIOB.
REFERENCE   4  (bases 1 to 1389)
  AUTHORS   Ribeiro,J., Dupaigne,P., Petrillo,C., Ducrot,C., Duquenne,C.,
            Veaute,X., Saintome,C., Busso,D., Guerois,R., Martini,E. and
            Livera,G.
  TITLE     The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to
            form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex
  JOURNAL   DNA Repair (Amst) 102, 103097 (2021)
   PUBMED   33812231
  REMARK    GeneRIF: The meiosis-specific MEIOB-SPATA22 complex cooperates with
            RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
REFERENCE   5  (bases 1 to 1389)
  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   6  (bases 1 to 1389)
  AUTHORS   Xu,Y., Greenberg,R.A., Schonbrunn,E. and Wang,P.J.
  TITLE     Meiosis-specific proteins MEIOB and SPATA22 cooperatively associate
            with the single-stranded DNA-binding replication protein A complex
            and DNA double-strand breaks
  JOURNAL   Biol Reprod 96 (5), 1096-1104 (2017)
   PUBMED   28453612
REFERENCE   7  (bases 1 to 1389)
  AUTHORS   Dorosh,A., Tepla,O., Zatecka,E., Ded,L., Koci,K. and Peknicova,J.
  TITLE     Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in
            testicular biopsies from non-obstructive azoospermia (NOA) patients
  JOURNAL   Reprod Biol Endocrinol 11, 42 (2013)
   PUBMED   23675907
  REMARK    GeneRIF: Data indicate that the positive expression of studied
            genes fertilization rate for GAPDHS positive subset was 66%, ACR -
            71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18%
            and 36% respectively.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1389)
  AUTHORS   Meng,W., Butterworth,J., Bradley,D.T., Hughes,A.E., Soler,V.,
            Calvas,P. and Malecaze,F.
  TITLE     A genome-wide association study provides evidence for association
            of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in
            the French Population
  JOURNAL   Invest Ophthalmol Vis Sci 53 (13), 7983-7988 (2012)
   PUBMED   23049088
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1389)
  AUTHORS   Aston,K.I., Krausz,C., Laface,I., Ruiz-Castane,E. and Carrell,D.T.
  TITLE     Evaluation of 172 candidate polymorphisms for association with
            oligozoospermia or azoospermia in a large cohort of men of European
            descent
  JOURNAL   Hum Reprod 25 (6), 1383-1397 (2010)
   PUBMED   20378615
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1389)
  AUTHORS   Huang,X., Li,J., Lu,L., Xu,M., Xiao,J., Yin,L., Zhu,H., Zhou,Z. and
            Sha,J.
  TITLE     Novel development-related alternative splices in human testis
            identified by cDNA microarrays
  JOURNAL   J Androl 26 (2), 189-196 (2005)
   PUBMED   15713825
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP371122.1, AF367472.1 and AC025125.15.
            
            On Aug 14, 2020 this sequence version replaced NM_001170697.1.
            
            Transcript Variant: This variant (4) differs in the 5' UTR and
            contains an alternate exon which results in a frameshift, compared
            to variant 1. The resulting protein (isoform 2) is longer and has a
            distinct C-terminus, compared to 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 :: AF367472.1, SRR5189667.189173.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                BP371122.1         14-56
            44-185              AF367472.1         5-146
            186-186             AC025125.15        79641-79641
            187-419             AF367472.1         148-380
            420-420             AC025125.15        86389-86389
            421-1295            AF367472.1         382-1256
            1296-1296           AC025125.15        108838-108838
            1297-1389           AF367472.1         1258-1350
FEATURES             Location/Qualifiers
     source          1..1389
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.2"
     gene            1..1389
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /note="spermatogenesis associated 22"
                     /db_xref="GeneID:84690"
                     /db_xref="HGNC:HGNC:30705"
                     /db_xref="MIM:617673"
     exon            1..96
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            97..212
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     CDS             170..1261
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /note="isoform 2 is encoded by transcript variant 4;
                     spermatogenesis-associated protein 22; testis development
                     protein NYD-SP20; testicular tissue protein Li 186"
                     /codon_start=1
                     /product="spermatogenesis-associated protein 22 isoform 2"
                     /protein_id="NP_001164168.1"
                     /db_xref="CCDS:CCDS11027.1"
                     /db_xref="GeneID:84690"
                     /db_xref="HGNC:HGNC:30705"
                     /db_xref="MIM:617673"
                     /translation="MKRSLNENSARSTAGCLPVPLFNQKKRNRQPLTSNPLKDDSGIS
                     TPSDNYDFPPLPTDWAWEAVNPELAPVMKTVDTGQIPHSVSRPLRSQDSVFNSIQSNT
                     GRSQGGWSYRDGNKNTSLKTWNKNDFKPQCKRTNLVANDGKNSCPVSSGAQQQKQLRI
                     PEPPNLSRNKETELLRQTHSSKISGCTMRGLDKNSALQTLKPNFQQNQYKKQMLDDIP
                     EDNTLKETSLYQLQFKEKASSLRIISAVIESMKYWREHAQKTVLLFEVLAVLDSAVTP
                     GPYYSKTFLMRDGKNTLPCVFYEIDRELPRLIRGRVHRCVGNYDQKKNIFQCVSVRPA
                     SVSEQKTFQAFVKIADVEMQYYINVMNET"
     exon            213..341
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            342..402
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            403..498
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            499..841
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            842..971
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1069
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1389
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1365..1370
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /note="hexamer: ATTAAA"
     polyA_site      1389
                     /gene="SPATA22"
                     /gene_synonym="NYD-SP20; NYDSP20; POF25; SPGF96"
                     /note="major polyA site"
ORIGIN      
        1 gattcccgcg ctttcttcgc gggcgggaag ggcggcggtt gctgacgggg ccgcctggac
       61 gacggttgac ggaggcgagg gaaactgagg gcgaaagtct agtgggacaa tgtcatatta
      121 taaatttgga atgctgaata gaaaattata gattttgata ttgaaggaaa tgaagcgaag
      181 cctaaatgaa aattcagctc gaagtacagc aggctgtttg cctgttccgt tgttcaatca
      241 gaaaaagagg aacagacagc cattaacttc taatccactt aaagatgatt caggtatcag
      301 taccccttct gacaattatg attttcctcc tctacctaca gattgggcct gggaagctgt
      361 gaatccagag ttggctcctg taatgaaaac agtggacacc gggcaaatac cacattcagt
      421 ttctcgtcct ctgagaagtc aagattctgt ctttaactct attcaatcaa atactggaag
      481 aagccagggt ggttggagct acagagatgg taacaaaaat accagcttga aaacttggaa
      541 taaaaatgat tttaagcctc aatgtaaacg aacaaactta gtggcaaatg atggaaaaaa
      601 ttcttgtcca gtgagttcgg gagctcaaca acaaaaacaa ttaagaatac ctgaacctcc
      661 taacttatct cgcaacaaag aaaccgagct actcagacaa acacattcat caaaaatatc
      721 tggctgcaca atgagagggc tagacaaaaa cagtgcacta cagacactta agcccaattt
      781 tcaacaaaat caatataaga aacaaatgtt ggatgatatt ccagaagaca acaccctgaa
      841 ggaaacctca ttgtatcagt tacagtttaa ggaaaaagct agttctttaa gaattatttc
      901 tgcagttatt gaaagcatga agtattggcg tgaacatgca cagaaaactg tacttctttt
      961 tgaagtatta gctgttcttg attcagctgt tacacctggc ccatattatt cgaagacttt
     1021 tcttatgagg gatgggaaaa atactctgcc ttgtgtcttt tatgaaatcg atcgtgaact
     1081 tccgagactg attagaggcc gagttcatag atgtgttggc aactatgacc agaaaaagaa
     1141 cattttccaa tgtgtttctg tcagaccggc gtctgtttct gaacaaaaaa ctttccaggc
     1201 atttgtcaaa attgcagatg ttgagatgca gtattatatt aatgtgatga atgaaactta
     1261 agtagtgata aaaggaagtt tagcataaat tatagcagtt ttctgttatt gcttaattta
     1321 ccatctccat agttttatag ctactattgt atttcacttg ttgaattaaa gtatttgaat
     1381 tcttttaaa
//
