LOCUS       NM_032858               1737 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens maelstrom spermatogenic transposon silencer (MAEL),
            transcript variant 1, mRNA.
ACCESSION   NM_032858
VERSION     NM_032858.3
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 1737)
  AUTHORS   Tao,J., Cui,J., Xu,Y., Fan,Y., Hong,G., Zhou,Q., Wang,G., Li,L.,
            Han,Y., Xu,C., Wang,W., Cai,S. and Zhang,X.
  TITLE     MAEL in human cancers and implications in prognostication and
            predicting benefit from immunotherapy over VEGFR/mTOR inhibitors in
            clear cell renal cell carcinoma: a bioinformatic analysis
  JOURNAL   Aging (Albany NY) 16 (3), 2090-2122 (2024)
   PUBMED   38301040
  REMARK    GeneRIF: MAEL in human cancers and implications in prognostication
            and predicting benefit from immunotherapy over VEGFR/mTOR
            inhibitors in clear cell renal cell carcinoma: a bioinformatic
            analysis.
REFERENCE   2  (bases 1 to 1737)
  AUTHORS   Cheng,Y.S., Chen,H.Y., Lin,Y.C., Lin,Y.S., Yeh,Y.C., Yeh,Y.H.,
            Cheng,Y.H., Lin,Y.M., Weng,H.Y., Lin,T.Y. and Lin,S.C.
  TITLE     The MAEL expression in mitochondria of human spermatozoa and the
            association with asthenozoospermia
  JOURNAL   Andrology 11 (7), 1286-1294 (2023)
   PUBMED   36779514
  REMARK    GeneRIF: The MAEL expression in mitochondria of human spermatozoa
            and the association with asthenozoospermia.
REFERENCE   3  (bases 1 to 1737)
  AUTHORS   Chen,X., Wen,F., Li,Z., Li,W., Zhou,M., Sun,X., Zhao,P., Zou,C. and
            Liu,T.
  TITLE     Identification of MAEL as a promoter for the drug resistance model
            of iPSCs derived from T-ALL
  JOURNAL   Cancer Med 11 (18), 3479-3490 (2022)
   PUBMED   35488386
  REMARK    GeneRIF: Identification of MAEL as a promoter for the drug
            resistance model of iPSCs derived from T-ALL.
REFERENCE   4  (bases 1 to 1737)
  AUTHORS   He,W.P., Yang,G.P., Yang,Z.X., Shen,H.W., You,Z.S. and Yang,G.F.
  TITLE     Maelstrom promotes tumor metastasis through regulation of FGFR4 and
            epithelial-mesenchymal transition in epithelial ovarian cancer
  JOURNAL   J Ovarian Res 15 (1), 55 (2022)
   PUBMED   35513870
  REMARK    GeneRIF: Maelstrom promotes tumor metastasis through regulation of
            FGFR4 and epithelial-mesenchymal transition in epithelial ovarian
            cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1737)
  AUTHORS   Abbaszadegan,M.R., Taghehchian,N., Aarabi,A., Akbari,F., Saburi,E.
            and Moghbeli,M.
  TITLE     MAEL as a diagnostic marker for the early detection of esophageal
            squamous cell carcinoma
  JOURNAL   Diagn Pathol 16 (1), 36 (2021)
   PUBMED   33902648
  REMARK    GeneRIF: MAEL as a diagnostic marker for the early detection of
            esophageal squamous cell carcinoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1737)
  AUTHORS   Xiao,L., Wang,Y., Zhou,Y., Sun,Y., Sun,W., Wang,L., Zhou,C.,
            Zhou,J. and Zhang,J.
  TITLE     Identification of a novel human cancer/testis gene MAEL that is
            regulated by DNA methylation
  JOURNAL   Mol Biol Rep 37 (5), 2355-2360 (2010)
   PUBMED   19693694
  REMARK    GeneRIF: These results suggest that MAEL is a novel
            cancer/testis-associated gene and is regulated by DNA methylation.
REFERENCE   7  (bases 1 to 1737)
  AUTHORS   Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1737)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (bases 1 to 1737)
  AUTHORS   Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
            Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
  TITLE     Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
            genetic association with bone mineral density variation
  JOURNAL   Hum Mol Genet 18 (4), 679-687 (2009)
   PUBMED   19064610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 1737)
  AUTHORS   Soper,S.F., van der Heijden,G.W., Hardiman,T.C., Goodheart,M.,
            Martin,S.L., de Boer,P. and Bortvin,A.
  TITLE     Mouse maelstrom, a component of nuage, is essential for
            spermatogenesis and transposon repression in meiosis
  JOURNAL   Dev Cell 15 (2), 285-297 (2008)
   PUBMED   18694567
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DQ076156.2.
            
            On Nov 22, 2018 this sequence version replaced NM_032858.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: DQ076156.2, AK131066.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367872.9/ ENSP00000356846.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1737              DQ076156.2         1-1737
FEATURES             Location/Qualifiers
     source          1..1737
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.1"
     gene            1..1737
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /note="maelstrom spermatogenic transposon silencer"
                     /db_xref="GeneID:84944"
                     /db_xref="HGNC:HGNC:25929"
                     /db_xref="MIM:611368"
     exon            1..205
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..1378
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cancer/testis antigen 128; protein maelstrom homolog;
                     spermatogenesis associated 35; testicular tissue protein
                     Li 116"
                     /codon_start=1
                     /product="protein maelstrom homolog isoform 1"
                     /protein_id="NP_116247.1"
                     /db_xref="CCDS:CCDS1257.1"
                     /db_xref="GeneID:84944"
                     /db_xref="HGNC:HGNC:25929"
                     /db_xref="MIM:611368"
                     /translation="MPNRKASRNAYYFFVQEKIPELRRRGLPVARVADAIPYCSSDWA
                     LLREEEKEKYAEMAREWRAAQGKDPGPSEKQKPVFTPLRRPGMLVPKQNVSPPDMSAL
                     SLKGDQALLGGIFYFLNIFSHGELPPHCEQRFLPCEIGCVKYSLQEGIMADFHSFINP
                     GEIPRGFRFHCQAASDSSHKIPISNFERGHNQATVLQNLYRFIHPNPGNWPPIYCKSD
                     DRTRVNWCLKHMAKASEIRQDLQLLTVEDLVVGIYQQKFLKEPSKTWIRSLLDVAMWD
                     YSSNTRCKWHEENDILFCALAVCKKIAYCISNSLATLFGIQLTEAHVPLQDYEASNSV
                     TPKMVVLDAGRYQKLRVGSSGFSHFNSSNEEQRSNTPIGDYPSRAKISGQNSSVRGRG
                     ITRLLESISNSSSNIHKFSNCDTSLSPYMSQKDGYKSFSSLS"
     exon            206..298
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            299..398
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            399..554
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            555..596
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            597..721
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            722..776
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            777..918
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            919..981
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1114
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1190
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1737
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1609..1614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /note="hexamer: ATTAAA"
     polyA_site      1638
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /note="major polyA site"
     regulatory      1699..1704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /note="hexamer: AATAAA"
     polyA_site      1737
                     /gene="MAEL"
                     /gene_synonym="CT128; SPATA35"
                     /note="major polyA site"
ORIGIN      
        1 acttagggcg ggagcccggc gagggcgccg gtgctttgtt ctgtctgagg ccaggaagtt
       61 tgaccgcgct gccatgccga accgtaaggc cagccggaat gcttactatt tcttcgtgca
      121 ggagaagatc cccgaactac ggcgacgagg cctgcctgtg gctcgcgttg ctgatgccat
      181 cccttactgc tcctcagact gggcgcttct gagggaggaa gaaaaggaga aatacgcaga
      241 aatggctcga gaatggaggg ccgctcaggg aaaggaccct gggccctcag agaagcagaa
      301 acctgttttc acaccactga ggaggccagg catgcttgta ccaaagcaga atgtttcacc
      361 tccagatatg tcagctttgt ctttaaaagg tgatcaagct ctccttggag gcatttttta
      421 ttttttgaac atttttagcc atggcgagct acctcctcat tgtgaacagc gcttcctccc
      481 ttgtgaaatt ggctgtgtta agtattctct ccaagaaggt attatggcag atttccacag
      541 ttttataaat cctggtgaaa ttccacgagg atttcgattt cattgtcagg ctgcaagtga
      601 ttctagtcac aagattccta tttcaaattt tgaacgtggg cataaccaag caactgtgtt
      661 acaaaacctt tatagattta ttcatcccaa cccagggaac tggccaccta tctactgcaa
      721 gtctgatgat agaaccagag tcaactggtg tttgaagcat atggcaaagg catcagaaat
      781 caggcaagat ctacaacttc tcactgtaga ggaccttgta gtggggatct accaacaaaa
      841 atttctcaag gagccctcta agacttggat tcgaagcctc ctagatgtgg ccatgtggga
      901 ttattctagc aacacaaggt gcaagtggca tgaagaaaat gatattctct tctgtgcttt
      961 agctgtttgc aagaagattg cgtactgcat cagtaattct ctggccactc tctttggaat
     1021 ccagctcaca gaggctcatg taccactaca agattatgag gccagcaata gtgtgacacc
     1081 caaaatggtt gtattggatg cagggcgtta ccagaagcta agggttggga gttcaggatt
     1141 ctctcatttc aactcttcta atgaggaaca aagatcaaac acacccattg gtgactaccc
     1201 atctagggca aaaatttctg gccaaaacag cagcgttcgg ggaagaggaa ttacccgctt
     1261 actagagagc atttccaatt cttccagcaa tatccacaaa ttctccaact gtgacacttc
     1321 actctcacct tacatgtccc aaaaagatgg atacaaatct ttctcttcct tatcttaatg
     1381 atggtactct tttcaatttc tgaaaacagt aacaggccca acttccttct tactacagtc
     1441 atattaaaca gatcacatca atgacaaatg tcactactat aaaaactact taatttgtaa
     1501 ggaaattgtt tcatagattt aaaaaaattg tggttggaga gcatcttggc atttgtgctt
     1561 tttttcttga gggattgttc tgcttcctgg ctgtatgatg ggtatatcat taaagtttgg
     1621 agtcctatat gaacaaaact gacattttta gagttgtact tttgggaatg ttatagattg
     1681 atcattcttt ctcctgataa taaaggtatt gaatatctgt tatgaaaggt tctaaaa
//
