LOCUS       NM_020364               3417 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens deleted in azoospermia 3 (DAZ3), mRNA.
ACCESSION   NM_020364
VERSION     NM_020364.4
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 3417)
  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   2  (bases 1 to 3417)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   3  (bases 1 to 3417)
  AUTHORS   Zhang,Y., Li,M., Xiao,F., Teng,R., Zhang,C., Lan,A., Gu,K., Li,J.,
            Wang,D., Li,H., Jiang,L., Zeng,S., He,M., Huang,Y., Guo,P.,
            Zhang,X. and Yang,X.
  TITLE     Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on
            male infertility
  JOURNAL   Gene 571 (1), 9-16 (2015)
   PUBMED   26232607
  REMARK    GeneRIF: Studies indicate that partial RNA-binding proteins DAZ1/2
            deletion was associated wih male infertility, but partial
            RNA-binding proteins DAZ3/4 deletion was not associated with male
            infertility.
            Review article
REFERENCE   4  (bases 1 to 3417)
  AUTHORS   Kim,B., Lee,Y., Kim,Y., Lee,K.H., Chun,S., Rhee,K., Seo,J.T.,
            Kim,S.W. and Paick,J.S.
  TITLE     Polymorphic expression of DAZ proteins in the human testis
  JOURNAL   Hum Reprod 24 (6), 1507-1515 (2009)
   PUBMED   19223287
  REMARK    GeneRIF: All four DAZ genes are expressed in the human testis, and
            their products are highly polymorphic among men
REFERENCE   5  (bases 1 to 3417)
  AUTHORS   Lardone,M.C., Parodi,D.A., Ebensperger,M., Penaloza,P., Cornejo,V.,
            Valdevenito,R., Pommer,R. and Castro,A.
  TITLE     AZFc partial deletions in Chilean men with severe spermatogenic
            failure
  JOURNAL   Fertil Steril 88 (5), 1318-1326 (2007)
   PUBMED   17416365
  REMARK    GeneRIF: AZFc subdeletions do not seem to cause severe impairment
            of spermatogenesis in Chilean men.
REFERENCE   6  (bases 1 to 3417)
  AUTHORS   Yen,P.H., Chai,N.N. and Salido,E.C.
  TITLE     The human autosomal gene DAZLA: testis specificity and a candidate
            for male infertility
  JOURNAL   Hum Mol Genet 5 (12), 2013-2017 (1996)
   PUBMED   8968756
REFERENCE   7  (bases 1 to 3417)
  AUTHORS   Saxena,R., Brown,L.G., Hawkins,T., Alagappan,R.K., Skaletsky,H.,
            Reeve,M.P., Reijo,R., Rozen,S., Dinulos,M.B., Disteche,C.M. and
            Page,D.C.
  TITLE     The DAZ gene cluster on the human Y chromosome arose from an
            autosomal gene that was transposed, repeatedly amplified and pruned
  JOURNAL   Nat Genet 14 (3), 292-299 (1996)
   PUBMED   8896558
REFERENCE   8  (bases 1 to 3417)
  AUTHORS   Reijo,R., Seligman,J., Dinulos,M.B., Jaffe,T., Brown,L.G.,
            Disteche,C.M. and Page,D.C.
  TITLE     Mouse autosomal homolog of DAZ, a candidate male sterility gene in
            humans, is expressed in male germ cells before and after puberty
  JOURNAL   Genomics 35 (2), 346-352 (1996)
   PUBMED   8661148
REFERENCE   9  (bases 1 to 3417)
  AUTHORS   Cooke,H.J., Lee,M., Kerr,S. and Ruggiu,M.
  TITLE     A murine homologue of the human DAZ gene is autosomal and expressed
            only in male and female gonads
  JOURNAL   Hum Mol Genet 5 (4), 513-516 (1996)
   PUBMED   8845845
REFERENCE   10 (bases 1 to 3417)
  AUTHORS   Reijo,R., Lee,T.Y., Salo,P., Alagappan,R., Brown,L.G.,
            Rosenberg,M., Rozen,S., Jaffe,T., Straus,D., Hovatta,O. et al.
  TITLE     Diverse spermatogenic defects in humans caused by Y chromosome
            deletions encompassing a novel RNA-binding protein gene
  JOURNAL   Nat Genet 10 (4), 383-393 (1995)
   PUBMED   7670487
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010089.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 12, 2020 this sequence version replaced NM_020364.3.
            
            Summary: This gene is a member of the DAZ gene family and is a
            candidate for the human Y-chromosomal azoospermia factor (AZF). Its
            expression is restricted to premeiotic germ cells, particularly in
            spermatogonia. It encodes an RNA-binding protein that is important
            for spermatogenesis. Four copies of this gene are found on
            chromosome Y within palindromic duplications; one pair of genes is
            part of the P2 palindrome and the second pair is part of the P1
            palindrome. Each gene contains a 2.4 kb repeat including a 72-bp
            exon, called the DAZ repeat; the number of DAZ repeats is variable
            and there are several variations in the sequence of the DAZ repeat.
            Each copy of the gene also contains a 10.8 kb region that may be
            amplified; this region includes five exons that encode an RNA
            recognition motif (RRM) domain. This gene contains one copy of the
            10.8 kb repeat. [provided by RefSeq, Jul 2008].
            
            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.
            
            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 :: BC113005.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382365.7/ ENSP00000371802.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AC010089.4         76720-76930         c
            212-358             AC010089.4         69972-70118         c
            359-450             AC010089.4         69606-69697         c
            451-502             AC010089.4         68994-69045         c
            503-566             AC010089.4         68494-68557         c
            567-706             AC010089.4         68265-68404         c
            707-778             AC010089.4         66793-66864         c
            779-850             AC010089.4         64350-64421         c
            851-922             AC010089.4         61960-62031         c
            923-994             AC010089.4         59564-59635         c
            995-1066            AC010089.4         57187-57258         c
            1067-1138           AC010089.4         54808-54879         c
            1139-1210           AC010089.4         52431-52502         c
            1211-1282           AC010089.4         50051-50122         c
            1283-1354           AC010089.4         47674-47745         c
            1355-1426           AC010089.4         37887-37958         c
            1427-1461           AC010089.4         37107-37141         c
            1462-1560           AC010089.4         32436-32534         c
            1561-3417           AC010089.4         26606-28462         c
FEATURES             Location/Qualifiers
     source          1..3417
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="Y"
                     /map="Yq11.23"
     gene            1..3417
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /note="deleted in azoospermia 3"
                     /db_xref="GeneID:57054"
                     /db_xref="HGNC:HGNC:15965"
                     /db_xref="MIM:400027"
     exon            1..211
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1525
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /codon_start=1
                     /product="deleted in azoospermia protein 3"
                     /protein_id="NP_065097.2"
                     /db_xref="CCDS:CCDS35489.1"
                     /db_xref="GeneID:57054"
                     /db_xref="HGNC:HGNC:15965"
                     /db_xref="MIM:400027"
                     /translation="MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFV
                     GGIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIH
                     FHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNP
                     VTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTYPDSAFQVTTGYQLPVYNYQPFPA
                     YPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTT
                     GYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQ
                     AFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPNSAV
                     QVTTGYQFHVYNYQMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD"
     exon            212..358
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            359..450
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            451..502
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            503..566
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            567..706
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            707..778
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            779..850
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            851..922
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            923..994
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1066
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1138
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1210
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1282
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1354
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1426
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1461
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1560
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..3417
                     /gene="DAZ3"
                     /gene_synonym="pDP1679"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtcggcctg cgctcctcag cctggcggtt ctacctccga gggttcgccc gcccttggtt
       61 ttccttacac cttagccttt ggctcctttg accactcgaa gccccacagc gtgttccagc
      121 ggacttcacc agcagaccca gaagtggtgg gtgaaacact gcctctgttc ctccttgagc
      181 ctgtcgggag ctgctgcctg ccaccaccat gtctgctgca aatcctgaga ctccaaactc
      241 aaccatctcc agagaggcca gcacccagtc ttcatcagct gcagctagcc aaggctgggt
      301 gttaccagaa ggcaaaatcg tgccaaacac tgtttttgtt ggtggaattg atgctaggat
      361 ggatgaaact gagattggaa gctgctttgg tagatacggt tcagtgaaag aagtgaagat
      421 aatcacgaat cgaactggtg tgtccaaagg ctatggattt gtttcgtttg ttaatgacgt
      481 ggatgtccag aagatagtag gatcacagat acatttccat ggtaaaaagc tgaagctggg
      541 ccctgcaatc aggaaacaaa agttatgtgc tcgtcatgtg cagccacgtc ctttggtagt
      601 taatcctcct cctccaccac agtttcagaa cgtctggcgg aatccaaaca ctgaaaccta
      661 cctgcagccc caaatcacgc cgaatcctgt aactcagcac gttcaggctt actctgctta
      721 tccacattca ccaggtcagg tcatcactgg atgtcagttg cttgtatata attatcagga
      781 atatcctact tatcccgatt cagcatttca ggtcaccact ggatatcagt tgcctgtata
      841 taattatcag ccatttcctg cttatccaag atcaccattt caggtcactg ctggatatca
      901 gttgcctgta tataattatc aggcatttcc tgcttatcca aattcaccat ttcaagtcgc
      961 cactggatat cagttccctg tatacaatta tcaggcattt cctgcttatc caaattcacc
     1021 agttcaggtc accactggat atcagttgcc tgtatacaat tatcaggcat ttcctgctta
     1081 tccaaattca ccatttcaag tcgccactgg atatcagttc cctgtataca attatcaggc
     1141 atttcctgct tatccaaatt caccagttca ggtcaccact ggatatcagt tgcctgtata
     1201 caattatcag gcatttcctg cttatccaaa ttcaccattt caagtcgcca ctggatatca
     1261 gttccctgta tacaattatc aggcatttcc tgcttatcca aattcaccag ttcaggtcac
     1321 cactggatat cagttgcctg tatacaatta tcaggcattt cctgcttatc caaattcagc
     1381 agttcaggtc accactggat atcagttcca tgtatacaat taccagatgc caccgcagtg
     1441 ccctgttggg gagcaaagga gaaatctgtg gaccgaagca tacaaatggt ggtatcttgt
     1501 ctgtttaatc cagagaagag actgataaat tccgttgtta ctcaagatga ctgcttcaag
     1561 ggtaaaagag tgcatcgctt tagaagaagt ttggcagtat ttaaatctgt tggatcctct
     1621 cagctatcta gtttcatggg aagttgctgg ttttgaatat taagctaaaa gttttccact
     1681 attacagaaa ttctgaattt tggtaaatca cactgaaact ttctgtataa cttgtattat
     1741 tagactctct agttttatct taacactgaa actgttcttc attagatgtt tatttagaac
     1801 ctggttctgt gtttaatata tagtttaaag taacaaataa tcgagactga aagaatgtta
     1861 agatttatct gcaaggattt ttaaaaaatt gaaacttgca ttttaagtgt ttaaaagcaa
     1921 atactgactt tcaaaaaagt ttttaaaacc tgatttgaaa gctaacaatt ttgatagtct
     1981 gaacacaagc atttcacttc tccaagaagt acctgtgaac agtacaatat ttcagtattg
     2041 agctttgcat ttatgattta tctagaaatt tacctcaaaa gcagaatttt taaaactgca
     2101 tttttaatca gtggaactca atgtatagtt agctttattg aagtcttatc caaacccagt
     2161 aaaacagatt ctaagcaaac agtccaatca gtgagtcata atgtttattc aaagtatttt
     2221 atcttttatc tagaatccac atatgtatgt ccaatttgat tgggatagta gttaggataa
     2281 ctaaaattct gggcctaatt ttttaaagaa tccaagacaa actaaacttt actgggtata
     2341 taaccttctc aatgagttac cattcttttt tataaaaaaa attgttcctt gaaatgctaa
     2401 acttaatggc tgtatgtgaa atttgcaaaa tactggtatt aaagaacgct gcagcttttt
     2461 tatgtcactc aaaggttaat cggagtatct gaaaggaatt gtttttataa aaacattgaa
     2521 gtattagtta cttgctataa atagattttt atttttgttt tttagcctgt tatatttcct
     2581 tctgtaaaat aaaatatgtc cagaagaggc atgttgtttc tagattaggt agtgtcctca
     2641 ttttatattg tgaccacaca gctagagcac cagagccctt ttgctatact cacagtcttg
     2701 ttttcccagc ctcttttact agtctttcag gaggtttgct cttagaactg gtgatgtaaa
     2761 gaatggaagt agctgtatga gcagttcaaa ggccaagccg tggaatggta gcaatgggat
     2821 ataatacctt tctaagggaa acatttgtat cagtatcatt tgatctgcca tggacatgtg
     2881 tttaaagtgg ctttctggcc cttctttcaa tggcttcttc cctaaaacgt ggagactcta
     2941 agttaatgtc gttactatgg gccatattac taatgcccac tggggtctat gatttctcaa
     3001 aattttcatt cggaatccga aggatacagt ctttaaactt tagaattccc aagaaggctt
     3061 tattacacct cagaaattga aagcaccatg actttgtcca ttaaaaaatt atccatagtt
     3121 tttttagtgc ttttaacatt ccgacataca tcattctgtg attaaatctc cagatttctg
     3181 taaatgatac ctacattcta aagagttaat tctaattatt ccgatatgac cttaaggaaa
     3241 agtaaaggaa taaatttttg tctttgttga agtatttaat agagtaaggt aaagaagata
     3301 ttaagtccct ttcaaaatgg aaaattaatt ctaaactgag aaaaatgttc ctactaccta
     3361 ttgctgatac tgtctttgca taaatgaata aaaataaact ttttttcttc aaatgtg
//
