LOCUS       NM_080675               1252 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.
ACCESSION   NM_080675
VERSION     NM_080675.4
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 1252)
  AUTHORS   Zhang,Y., Liu,G., Huang,L., He,X., Su,Y., Nie,X., Mao,Z. and
            Xing,X.
  TITLE     SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal
            GTPase Septin12 mediating the sperm head-and-tail junction
  JOURNAL   Mol Hum Reprod 30 (7) (2024)
   PUBMED   38870534
  REMARK    GeneRIF: SUN5 interacts with nuclear membrane LaminB1 and
            cytoskeletal GTPase Septin12 mediating the sperm head-and-tail
            junction.
REFERENCE   2  (bases 1 to 1252)
  AUTHORS   Xiang,M., Wang,Y., Wang,K., Kong,S., Lu,M., Zhang,J., Duan,Z.,
            Zha,X., Shi,X., Wang,F., Cao,Y. and Zhu,F.
  TITLE     Novel Mutation and Deletion in SUN5 Cause Male Infertility with
            Acephalic Spermatozoa Syndrome
  JOURNAL   Reprod Sci 29 (2), 646-651 (2022)
   PUBMED   34159570
  REMARK    GeneRIF: Novel Mutation and Deletion in SUN5 Cause Male Infertility
            with Acephalic Spermatozoa Syndrome.
REFERENCE   3  (bases 1 to 1252)
  AUTHORS   Cazin,C., Boumerdassi,Y., Martinez,G., Fourati Ben Mustapha,S.,
            Whitfield,M., Coutton,C., Thierry-Mieg,N., Di Pizio,P., Rives,N.,
            Arnoult,C., Toure,A., Ray,P.F., Zouari,R., Sifer,C. and
            Kherraf,Z.E.
  TITLE     Identification and Characterization of the Most Common Genetic
            Variant Responsible for Acephalic Spermatozoa Syndrome in Men
            Originating from North Africa
  JOURNAL   Int J Mol Sci 22 (4), 2187 (2021)
   PUBMED   33671757
  REMARK    GeneRIF: Identification and Characterization of the Most Common
            Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in
            Men Originating from North Africa.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1252)
  AUTHORS   Liu,G., Wang,N., Zhang,H., Yin,S., Dai,H., Lin,G. and Li,W.
  TITLE     Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum
            of mutations that may cause acephalic spermatozoa
  JOURNAL   Clin Genet 97 (6), 938-939 (2020)
   PUBMED   32285443
  REMARK    GeneRIF: Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the
            spectrum of mutations that may cause acephalic spermatozoa.
REFERENCE   5  (bases 1 to 1252)
  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   6  (bases 1 to 1252)
  AUTHORS   Zhu,F., Wang,F., Yang,X., Zhang,J., Wu,H., Zhang,Z., Zhang,Z.,
            He,X., Zhou,P., Wei,Z., Gecz,J. and Cao,Y.
  TITLE     Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic
            Spermatozoa Syndrome
  JOURNAL   Am J Hum Genet 99 (4), 942-949 (2016)
   PUBMED   27640305
  REMARK    GeneRIF: results demonstrate that biallelic SUN5 mutations cause
            male infertility due to autosomal-recessive acephalic spermatozoa
            syndrome
            Erratum:[Am J Hum Genet. 2016 Dec 1;99(6):1405. doi:
            10.1016/j.ajhg.2016.11.002.. PMID: 27912045]
REFERENCE   7  (bases 1 to 1252)
  AUTHORS   Jiang,X.Z., Yang,M.G., Huang,L.H., Li,C.Q. and Xing,X.W.
  TITLE     SPAG4L, a novel nuclear envelope protein involved in the meiotic
            stage of spermatogenesis
  JOURNAL   DNA Cell Biol 30 (11), 875-882 (2011)
   PUBMED   21711156
  REMARK    GeneRIF: SPAG4L may play an important role in the meiotic stage of
            spermatogenesis
REFERENCE   8  (bases 1 to 1252)
  AUTHORS   Kierszenbaum,A.L. and Tres,L.L.
  TITLE     Bypassing natural sperm selection during fertilization: the azh
            mutant offspring experience and the alternative of spermiogenesis
            in vitro
  JOURNAL   Mol Cell Endocrinol 187 (1-2), 133-138 (2002)
   PUBMED   11988320
  REMARK    Review article
REFERENCE   9  (bases 1 to 1252)
  AUTHORS   Shao,X., Tarnasky,H.A., Lee,J.P., Oko,R. and van der Hoorn,F.A.
  TITLE     Spag4, a novel sperm protein, binds outer dense-fiber protein Odf1
            and localizes to microtubules of manchette and axoneme
  JOURNAL   Dev Biol 211 (1), 109-123 (1999)
   PUBMED   10373309
REFERENCE   10 (bases 1 to 1252)
  AUTHORS   Tarnasky,H., Gill,D., Murthy,S., Shao,X., Demetrick,D.J. and van
            der Hoorn,F.A.
  TITLE     A novel testis-specific gene, SPAG4, whose product interacts
            specifically with outer dense fiber protein ODF27, maps to human
            chromosome 20q11.2
  JOURNAL   Cytogenet Cell Genet 81 (1), 65-67 (1998)
   PUBMED   9691178
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC026118.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_080675.3.
            
            Summary: The protein encoded by this gene appears to play a role in
            the meiotic stage of spermatogenesis. The encoded protein localizes
            to the junction between the sperm head and body and may be involved
            in nuclear envelope reconstitution and nuclear migration. Mutations
            in this gene have been implicated in acephalic spermatozoa
            syndrome. [provided by RefSeq, May 2017].
            
            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 :: BC026118.2, AF401350.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2148093 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356173.8/ ENSP00000348496.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1252              BC026118.2         1-1252
FEATURES             Location/Qualifiers
     source          1..1252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..1252
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /note="Sad1 and UNC84 domain containing 5"
                     /db_xref="GeneID:140732"
                     /db_xref="HGNC:HGNC:16252"
                     /db_xref="MIM:613942"
     exon            1..170
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1233
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /note="testis and spermatogenesis related gene 4;
                     sperm-associated antigen 4-like protein; sad1 and UNC84
                     domain-containing protein 5; testis and
                     spermatogenesis-related gene 4 protein; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="SUN domain-containing protein 5"
                     /protein_id="NP_542406.2"
                     /db_xref="CCDS:CCDS13209.1"
                     /db_xref="GeneID:140732"
                     /db_xref="HGNC:HGNC:16252"
                     /db_xref="MIM:613942"
                     /translation="MPRSSRSPGDPGALLEDVAHNPRPRRIAQRGRNTSRMAEDTSPN
                     MNDNILLPVRNNDQALGLTQCMLGCVSWFTCFACSLRTQAQQVLFNTCRCKLLCQKLM
                     EKTGILLLCAFGFWMFSIHLPSKMKVWQDDSINGPLQSLRLYQEKVRHHSGEIQDLRG
                     SMNQLIAKLQEMEAMSDEQKMAQKIMKMIHGDYIEKPDFALKSIGASIDFEHTSVTYN
                     HEKAHSYWNWIQLWNYAQPPDVILEPNVTPGNCWAFEGDRGQVTIQLAQKVYLSNLTL
                     QHIPKTISLSGSLDTAPKDFVIYGMEGSPKEEVFLGAFQFQPENIIQMFPLQNQPARA
                     FSAVKVKISSNWGNPGFTCLYRVRVHGSVAPPREQPHQNPYPKRD"
     exon            171..229
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            230..304
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            305..371
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            372..433
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            434..483
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            484..518
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            519..627
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            628..706
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            707..822
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            823..990
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1077
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1252
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1229..1234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /note="hexamer: ATTAAA"
     polyA_site      1252
                     /gene="SUN5"
                     /gene_synonym="dJ726C3.1; SPAG4L; SPGF16; TSARG4"
                     /note="major polyA site"
ORIGIN      
        1 acttttcagg ggacattcag aggcatcagc cccttcctcc tcaccagctc ccagagttcc
       61 catctccatc cccaatccta aagaaggaaa tcgatgccac ggtcctcaag gagccctggg
      121 gacccaggcg ccctactcga agatgtggcc cacaatccca gaccccggag gattgcccag
      181 cgaggccgga acaccagcag gatggcagag gacacctccc caaacatgaa tgacaacatc
      241 ctgttgcctg tccgcaacaa tgaccaagcc ctaggcctga ctcagtgcat gctgggatgt
      301 gtgtcctggt tcacctgttt tgcctgctcc ctgagaactc aggcccagca ggttctgttt
      361 aacacgtgca gatgcaagct gctgtgccag aagctcatgg agaagacagg cattctgctc
      421 ctctgtgctt tcggattctg gatgttttct attcacttac catcgaaaat gaaagtctgg
      481 caggatgaca gcataaatgg tccactgcag agcttgaggt tgtaccagga gaaggtgcga
      541 catcacagtg gggaaatcca ggacctccga ggtagcatga accagctcat tgccaagctc
      601 caggagatgg aagccatgtc cgatgagcaa aaaatggccc agaaaataat gaagatgata
      661 cacggagatt acatcgaaaa gccagacttt gccctgaagt ctataggggc cagcattgac
      721 tttgagcaca cgtcagtcac ctataaccat gagaaggccc actcctactg gaactggatc
      781 cagctgtgga actacgcaca gcccccagac gtgatccttg agcccaacgt gacacctggc
      841 aattgctggg cctttgaggg tgaccgcggc caggtgacca tccaattggc tcagaaggtt
      901 tacctgtcca acctcacgct gcagcacatc cccaagacca tctcattgtc aggcagcctg
      961 gacaccgccc ccaaggactt cgtcatctat ggcatggagg gctcccccaa ggaggaggtg
     1021 ttcctggggg catttcagtt tcagccagaa aacatcatcc agatgttccc actccagaac
     1081 cagccggccc gggctttcag tgcggtcaag gtgaagatct caagcaactg ggggaaccca
     1141 ggcttcactt gcctgtaccg cgtgcgagtg catggctctg tggccccgcc cagagagcag
     1201 cctcaccaga acccctaccc taagagagat taaaatttat tctttacccc ca
//
