LOCUS       NM_052957               2765 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens germ cell nuclear acidic peptidase (GCNA), mRNA.
ACCESSION   NM_052957
VERSION     NM_052957.5
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 2765)
  AUTHORS   Arafat,M., Kleiman,S.E., AbuMadighem,A., Zeadna,A., Levitas,E.,
            Vardi,I.H., Barda,S., Lehavi,O., Hauser,R., Lunenfeld,E.,
            Huleihel,M., Gershoni,M. and Parvari,R.
  TITLE     Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA)
            are associated with human male infertility
  JOURNAL   Eur J Hum Genet 29 (12), 1781-1788 (2021)
   PUBMED   34413498
  REMARK    GeneRIF: Pathogenic variations in Germ Cell Nuclear Acidic
            Peptidase (GCNA) are associated with human male infertility.
REFERENCE   2  (bases 1 to 2765)
  AUTHORS   Hardy,J.J., Wyrwoll,M.J., Mcfadden,W., Malcher,A., Rotte,N.,
            Pollock,N.C., Munyoki,S., Veroli,M.V., Houston,B.J., Xavier,M.J.,
            Kasak,L., Punab,M., Laan,M., Kliesch,S., Schlegel,P., Jaffe,T.,
            Hwang,K., Vukina,J., Brieno-Enriquez,M.A., Orwig,K., Yanowitz,J.,
            Buszczak,M., Veltman,J.A., Oud,M., Nagirnaja,L., Olszewska,M.,
            O'Bryan,M.K., Conrad,D.F., Kurpisz,M., Tuttelmann,F. and
            Yatsenko,A.N.
  CONSRTM   GEMINI Consortium
  TITLE     Variants in GCNA, X-linked germ-cell genome integrity gene,
            identified in men with primary spermatogenic failure
  JOURNAL   Hum Genet 140 (8), 1169-1182 (2021)
   PUBMED   33963445
  REMARK    GeneRIF: Variants in GCNA, X-linked germ-cell genome integrity
            gene, identified in men with primary spermatogenic failure.
REFERENCE   3  (bases 1 to 2765)
  AUTHORS   Borgermann,N., Ackermann,L., Schwertman,P., Hendriks,I.A.,
            Thijssen,K., Liu,J.C., Lans,H., Nielsen,M.L. and Mailand,N.
  TITLE     SUMOylation promotes protective responses to DNA-protein crosslinks
  JOURNAL   EMBO J 38 (8) (2019)
   PUBMED   30914427
REFERENCE   4  (bases 1 to 2765)
  AUTHORS   Carmell,M.A., Dokshin,G.A., Skaletsky,H., Hu,Y.C., van
            Wolfswinkel,J.C., Igarashi,K.J., Bellott,D.W., Nefedov,M.,
            Reddien,P.W., Enders,G.C., Uversky,V.N., Mello,C.C. and Page,D.C.
  TITLE     A widely employed germ cell marker is an ancient disordered protein
            with reproductive functions in diverse eukaryotes
  JOURNAL   Elife 5, e19993 (2016)
   PUBMED   27718356
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2765)
  AUTHORS   Nolte,D., Ramser,J., Niemann,S., Lehrach,H., Sudbrak,R. and
            Muller,U.
  TITLE     ACRC codes for a novel nuclear protein with unusual acidic repeat
            tract and maps to DYT3 (dystonia parkinsonism) critical interval in
            xq13.1
  JOURNAL   Neurogenetics 3 (4), 207-213 (2001)
   PUBMED   11714101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590763.2.
            
            On Oct 2, 2020 this sequence version replaced NM_052957.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK097433.1, BC136259.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373696.8/ ENSP00000362800.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-86                AL590763.2         120013-120098
            87-147              AL590763.2         122396-122456
            148-194             AL590763.2         133698-133744
            195-228             AL590763.2         134113-134146
            229-275             AL590763.2         135907-135953
            276-309             AL590763.2         136322-136355
            310-398             AL590763.2         139526-139614
            399-1487            AL590763.2         145164-146252
            1488-1554           AL590763.2         147239-147305
            1555-1699           AL590763.2         150549-150693
            1700-1838           AL590763.2         152257-152395
            1839-2043           AL590763.2         153931-154135
            2044-2765           AL590763.2         154438-155159
FEATURES             Location/Qualifiers
     source          1..2765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..2765
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /note="germ cell nuclear acidic peptidase"
                     /db_xref="GeneID:93953"
                     /db_xref="HGNC:HGNC:15805"
                     /db_xref="MIM:300369"
     exon            1..86
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            87..147
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..2164
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /note="putative nuclear protein; acidic repeat-containing
                     protein; acidic repeat containing; germ cell nuclear
                     antigen"
                     /codon_start=1
                     /product="germ cell nuclear acidic protein"
                     /protein_id="NP_443189.1"
                     /db_xref="CCDS:CCDS35326.1"
                     /db_xref="GeneID:93953"
                     /db_xref="HGNC:HGNC:15805"
                     /db_xref="MIM:300369"
                     /translation="MDGCKKELPRLQEPEEDEDCYILNVQSSSDDTSGSSVARRAPKR
                     QASCILNVQSRSGDTSGSSVARRAPKRQASSVVVIDSDSDEECHTHEEKKAKLLEINS
                     DDESPECCHVKPAIQEPPIVISDDDNDDDNGNDLEVPDDNSDDSEAPDDNSDDSEAPD
                     DNSDDSEAPDDNSDDSEAPDDNSDDSDVPDDNSDDSSDDNSDDSSDDNSDDSDVPDDK
                     SDDSDVPDDSSDDSDVPDDSSDDSEAPDDSSDDSEAPDDSSDDSEAPDDSSDDSEAPD
                     DSSDDSEASDDSSDDSEASDDSSDDSEAPDDKSDDSDVPEDKSDDSDVPDDNSDDLEV
                     PVPAEDLCNEGQIASDEEELVEAAAAVSQHDSSDDAGEQDLGENLSKPPSDPEANPEV
                     SERKLPTEEEPAPVVEQSGKRKSKTKTIVEPPRKRQTKTKNIVEPPRKRQTKTKNIVE
                     PLRKRKAKTKNVSVTPGHKKRGPSKKKPGAAKVEKRKTRTPKCKVPGCFLQDLEKSKK
                     YSGKNLKRNKDELVQRIYDLFNRSVCDKKLPEKLRIGWNNKMVKTAGLCSTGEMWYPK
                     WRRFAKIQIGLKVCDSADRIRDTLIHEMCHAASWLIDGIHDSHGDAWKYYARKSNRIH
                     PELPRVTRCHNYKINYKVHYECTGCKTRIGCYTKSLDTSRFICAKCKGSLVMVPLTQK
                     DGTRIVPHV"
     exon            148..194
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            195..228
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            229..275
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            276..309
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            310..398
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            399..1487
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1554
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1699
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1838
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..2043
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     exon            2044..2765
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2744..2749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /note="hexamer: AATAAA"
     polyA_site      2765
                     /gene="GCNA"
                     /gene_synonym="ACRC; NAAR1; SPGFX4"
                     /note="major polyA site"
ORIGIN      
        1 atcgcagttg ctccggatct ttgcacacac tccacgggca gttggaggtg agctgctgcc
       61 ggccacgcca gaggctgcaa caccagacat ggatgggtgc aaaaaagagc tgccccgctt
      121 gcaagagccg gaggaggacg aggattgtta catccttaat gttcagtcaa gcagtgatga
      181 caccagtggg tcttctgtgg ccagaagagc tccgaagaga caggcgagtt gcatccttaa
      241 tgtccagtca aggagtggtg acaccagtgg gtcttctgtg gccagaagag ctccgaagag
      301 acaggcgagc tccgtggtag tgattgactc tgattctgat gaggaatgtc acacccatga
      361 agagaagaaa gctaagttat tggaaataaa cagcgacgat gagagtccgg agtgttgtca
      421 tgtgaagcct gccatccagg aacctccaat agttattagt gatgatgaca atgacgatga
      481 caacggtaat gatttggaag ttcccgacga caacagtgat gattcagaag ctcccgacga
      541 caacagtgat gattcggaag ctcctgacga caacagtgat gattcggaag ctcccgacga
      601 caacagtgat gattcggaag ctcccgacga caatagtgat gattcggatg ttcccgacga
      661 caacagtgat gattcatccg acgacaacag tgatgattca tccgacgaca acagtgatga
      721 ttcggatgtt cccgacgaca agagtgatga ttcggatgtt cccgacgaca gcagtgatga
      781 ttcggatgtt cccgacgaca gcagtgatga ttcggaagct cccgacgaca gcagtgatga
      841 ttcggaagct cccgacgaca gcagtgatga ttcggaagct cccgacgaca gcagtgatga
      901 ttcggaagct cccgacgaca gcagtgatga ttcggaagct tccgacgaca gcagtgatga
      961 ttcggaagct tccgacgaca gcagtgatga ttcggaagct cccgacgaca agagtgatga
     1021 ttcggatgtt cccgaagaca agagtgatga ttcggatgtt cccgatgaca atagtgatga
     1081 tttggaagtt cctgtgccag cagaagattt gtgtaatgaa ggccaaattg cttcagatga
     1141 agaagagctg gttgaggctg ctgctgctgt ctcccagcat gattcatctg atgatgctgg
     1201 tgagcaggat cttggtgaga atctcagcaa accaccaagt gatcctgagg ctaaccctga
     1261 agtttcagag agaaagctgc caactgagga agagcctgca cctgtggtgg aacaatcagg
     1321 gaaaaggaag tcaaaaacca aaactattgt ggagccaccg aggaaaaggc agacaaagac
     1381 caaaaatata gtggagccac caaggaaaag gcagacaaag accaaaaata tagtggagcc
     1441 actgaggaag aggaaggcga aaaccaaaaa tgtatctgtg acacctggac ataagaagcg
     1501 tgggccttca aagaagaaac ccggtgcagc aaaagttgaa aaacgcaaga ctaggactcc
     1561 taaatgcaaa gtccctggat gtttcttgca agaccttgaa aagtcaaaga aatactctgg
     1621 aaaaaattta aagcgaaata aggatgaatt ggttcagaga atctacgacc tgtttaacag
     1681 atccgtctgt gataaaaagc tgccagagaa actacgcata ggctggaata acaagatggt
     1741 gaaaactgct ggcttatgca gcactggtga gatgtggtac ccaaagtggc ggcgctttgc
     1801 caagatccag attggcttga aagtctgcga ctctgcagac cgaatccggg ataccttgat
     1861 ccatgaaatg tgccatgctg cctcctggct gattgatggt atccatgatt ctcatggtga
     1921 cgcatggaag tattatgcca ggaaatccaa caggatacac ccggagctgc ccagggtcac
     1981 ccgttgccat aactataaga ttaactacaa ggtccattat gaatgtactg gatgcaaaac
     2041 gaggattggc tgctacacca aatcgttgga caccagccgc ttcatctgtg ccaaatgcaa
     2101 ggggtctctg gtcatggtgc cattaactca gaaagatggg acccgtattg tgccccacgt
     2161 gtgaccattt gctgtgtatg tgcagaagta ttatagaaaa attatgcagg agatggctag
     2221 gattagcctt ggggatgtga tgaaaacact tggcaggaat tacaaggcaa tgaagaattc
     2281 ttaaggttat cttagagtat attaatgtga gctatatcct ttactggtaa gaagttttag
     2341 aaaagtttgt tttgtgaagt taggaatatt agaatttagg tactgttaag taagtaatgt
     2401 tagaatttaa gattcatgtt attaacgatg attgacctta aatagggact ctattgctaa
     2461 ccattctgtg cccttgacag ggtatttctg aagcccttgg gatctacctt gggtcttact
     2521 tgagttccat atttttcaca tgtagaacaa aatgcaaaag aaaagtgagt tttcaagagt
     2581 ggcaggttga gagaggagaa tgctggaaag aggacaagtt tgagaggcaa cacttaaaca
     2641 ctagggctac tgtggcatct atgtagacag gaaagacaaa cgtgtttcat aaaattcgtt
     2701 gttgatggta ttgattgaaa ctatctgagc catgtaatca aaaaataaaa gttttctgca
     2761 tcttg
//
