LOCUS       NM_153614               1162 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens DnaJ heat shock protein family (Hsp40) member B13
            (DNAJB13), transcript variant 1, mRNA.
ACCESSION   NM_153614 XM_350841
VERSION     NM_153614.4
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 1162)
  AUTHORS   Liu,M., Li,J., Jiang,C., Zhou,Y., Sun,Y., Yang,Y. and Shen,Y.
  TITLE     A novel homozygous mutation in DNAJB13-a gene associated with the
            sperm axoneme-leads to teratozoospermia
  JOURNAL   J Assist Reprod Genet 39 (3), 757-764 (2022)
   PUBMED   35166991
  REMARK    GeneRIF: A novel homozygous mutation in DNAJB13-a gene associated
            with the sperm axoneme-leads to teratozoospermia.
REFERENCE   2  (bases 1 to 1162)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1162)
  AUTHORS   Li,W.N., Zhu,L., Jia,M.M., Yin,S.L., Lu,G.X. and Liu,G.
  TITLE     Missense mutation in DNAJB13 gene correlated with male fertility in
            asthenozoospermia
  JOURNAL   Andrology 8 (2), 299-306 (2020)
   PUBMED   31342671
  REMARK    GeneRIF: Missense mutation in DNAJB13 gene correlated with male
            fertility in asthenozoospermia.
REFERENCE   4  (bases 1 to 1162)
  AUTHORS   El Khouri,E., Thomas,L., Jeanson,L., Bequignon,E., Vallette,B.,
            Duquesnoy,P., Montantin,G., Copin,B., Dastot-Le Moal,F.,
            Blanchon,S., Papon,J.F., Lores,P., Yuan,L., Collot,N., Tissier,S.,
            Faucon,C., Gacon,G., Patrat,C., Wolf,J.P., Dulioust,E.,
            Crestani,B., Escudier,E., Coste,A., Legendre,M., Toure,A. and
            Amselem,S.
  TITLE     Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause
            Primary Ciliary Dyskinesia and Male Infertility
  JOURNAL   Am J Hum Genet 99 (2), 489-500 (2016)
   PUBMED   27486783
  REMARK    GeneRIF: this study, which establishes mutations in DNAJB13 as a
            cause of PCD, unveils the key role played by DNAJB13 in the proper
            formation and function of ciliary and flagellar axonemes in humans
REFERENCE   5  (bases 1 to 1162)
  AUTHORS   Li,W. and Liu,G.
  TITLE     DNAJB13, a type II HSP40 family member, localizes to the spermatids
            and spermatozoa during mouse spermatogenesis
  JOURNAL   BMC Dev Biol 14, 38 (2014)
   PUBMED   25233908
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1162)
  AUTHORS   Toure,A., Rode,B., Hunnicutt,G.R., Escalier,D. and Gacon,G.
  TITLE     Septins at the annulus of mammalian sperm
  JOURNAL   Biol Chem 392 (8-9), 799-803 (2011)
   PUBMED   21740329
  REMARK    Review article
REFERENCE   7  (bases 1 to 1162)
  AUTHORS   Liu,G., Lu,G.X. and Xing,X.W.
  TITLE     Molecular cloning of TSARG6 gene related to apoptosis in human
            spermatogenic cells
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 36 (2), 93-98 (2004)
   PUBMED   14970903
  REMARK    GeneRIF: TSARG6 is specifically expressed in adult testis with a
            transcript of 1.8 kb, which has a role in spermatogenesis and
            apoptosis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY138810.2 and AY325766.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 19, 2019 this sequence version replaced NM_153614.3.
            
            Summary: This gene encodes a member of the heat shock protein 40
            co-chaperone family which is produced in large amounts in the
            testis and is located on the radial spokes of the axoneme in human
            sperm flagella and other flagellar structures. The encoded protein
            associates with the sperm annulus, as part of the septin complex,
            through direct interaction with septin 4, during sperm terminal
            differentiation. Naturally occurring mutations in this gene are
            associated with primary ciliary dyskinesia and male infertility.
            [provided by RefSeq, Apr 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY325766.1, AY138810.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339764.6/ ENSP00000344431.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-322               AY138810.2         708-1029
            323-1157            AY325766.1         323-1157
            1158-1162           AY138810.2         1865-1869
FEATURES             Location/Qualifiers
     source          1..1162
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1162
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /note="DnaJ heat shock protein family (Hsp40) member B13"
                     /db_xref="GeneID:374407"
                     /db_xref="HGNC:HGNC:30718"
                     /db_xref="MIM:610263"
     exon            1..112
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..995
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /note="isoform 1 is encoded by transcript variant 1; DnaJ
                     (Hsp40) related, subfamily B, member 13; radial spoke 16
                     homolog A; dnaJ homolog subfamily B member 13; DnaJ-like
                     protein; testis and spermatogenesis cell-related protein
                     6; testis spermatocyte apoptosis-related gene 6 protein;
                     testis spermatogenesis apoptosis-related gene 3 protein;
                     testis spermatogenesis apoptosis-related gene 6 protein;
                     DnaJ (Hsp40) homolog, subfamily B, member 13"
                     /codon_start=1
                     /product="dnaJ homolog subfamily B member 13 isoform 1"
                     /protein_id="NP_705842.2"
                     /db_xref="CCDS:CCDS8227.1"
                     /db_xref="GeneID:374407"
                     /db_xref="HGNC:HGNC:30718"
                     /db_xref="MIM:610263"
                     /translation="MGQDYYSVLGITRNSEDAQIKQAYRRLALKHHPLKSNEPSSAEI
                     FRQIAEAYDVLSDPMKRGIYDKFGEEGLKGGIPLEFGSQTPWTTGYVFHGKPEKVFHE
                     FFGGNNPFSEFFDAEGSEVDLNFGGLQGRGVKKQDPQVERDLYLSLEDLFFGCTKKIK
                     ISRRVLNEDGYSSTIKDKILTIDVKPGWRQGTRITFEKEGDQGPNIIPADIIFIVKEK
                     LHPRFRRENDNLFFVNPIPLGKALTCCTVEVRTLDDRLLNIPINDIIHPKYFKKVPGE
                     GMPLPEDPTKKGDLFIFFDIQFPTRLTPQKKQMLRQALLT"
     exon            113..216
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     exon            217..378
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     exon            379..536
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     exon            537..650
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     exon            651..764
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     exon            765..841
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     exon            842..1162
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1137..1142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /note="hexamer: AATAAA"
     polyA_site      1162
                     /gene="DNAJB13"
                     /gene_synonym="CILD34; RSPH16A; TSARG5; TSARG6"
                     /note="major polyA site"
ORIGIN      
        1 agagtctgag gactatccag ggcctgactg ccagctagcc agccatgggc caggattatt
       61 actctgtgct cgggatcact cgcaattcag aggatgccca gatcaagcag gcgtaccgca
      121 gactcgccct taagcaccac ccgttgaagt caaatgagcc gtcttcagca gagattttca
      181 ggcaaatagc agaggcctac gacgtgctga gtgaccccat gaagagaggc atctacgaca
      241 agtttggaga agagggcctg aagggtggga ttcctttgga gtttggatcc cagaccccat
      301 ggacaactgg ttacgtcttc catggcaaac ctgaaaaggt gttccacgag ttctttggtg
      361 gaaacaaccc cttcagtgag ttttttgatg cagaaggaag tgaggtagat ttgaactttg
      421 gggggctcca gggccgaggg gtcaagaagc aggaccccca agtcgaacgg gatctctacc
      481 tgtccctgga ggacttattc tttggctgca ccaaaaaaat taagatctcc agaagggtgc
      541 tgaacgagga tgggtactcc tccaccatca aggacaagat cctgaccatt gatgtgaagc
      601 ccggttggag gcagggcaca cgcatcacct ttgagaagga aggggaccag ggccccaaca
      661 tcatcccagc agacatcatt ttcatcgtaa aggagaagct acaccctcgc ttccgcaggg
      721 agaatgacaa cctcttcttc gtgaacccca tccctcttgg caaggctctc acctgctgca
      781 ctgtggaggt gaggacccta gatgaccgtc tgctcaacat ccccatcaat gacatcatcc
      841 accccaaata cttcaagaag gtgccagggg aggggatgcc attgccggag gaccccacta
      901 agaaagggga tctcttcatc ttcttcgaca tccagttccc cacccgcctc acaccccaga
      961 agaagcagat gctgcgccag gcattgctga catgactgtg gtgggctgga gcaggggtga
     1021 gaggaggcta gccgggcctc accccacccc tacccgccac agcctcaggg tgtgcagggg
     1081 agcctgctgc acagatatga tacaagggtg ggatggcgca gggcttaaac tgacataata
     1141 aagatctatt tcctgtcctc ca
//
