LOCUS       NM_001142854            2304 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens spermatogenesis and centriole associated 1 like
            (SPATC1L), transcript variant 1, mRNA.
ACCESSION   NM_001142854
VERSION     NM_001142854.2
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 2304)
  AUTHORS   David,D., Fino,J., Oliveira,R., Doria,S. and Morton,C.C.
  TITLE     Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in
            non-obstructive oligoasthenozoospermia and oligozoospermia and of a
            derivative chromosome 22 in recurrent miscarriage
  JOURNAL   Gene 887, 147737 (2023)
   PUBMED   37625567
  REMARK    GeneRIF: Balanced chromosomal rearrangements implicate YIPF5 and
            SPATC1L in non-obstructive oligoasthenozoospermia and
            oligozoospermia and of a derivative chromosome 22 in recurrent
            miscarriage.
REFERENCE   2  (bases 1 to 2304)
  AUTHORS   Li,Y.Z., Li,N., Liu,W.S., Sha,Y.W., Wu,R.F., Tang,Y.L., Zhu,X.S.,
            Wei,X.L., Zhang,X.Y., Wang,Y.F., Lu,Z.X. and Zhang,F.X.
  TITLE     Biallelic mutations in spermatogenesis and centriole-associated 1
            like (SPATC1L) cause acephalic spermatozoa syndrome and male
            infertility
  JOURNAL   Asian J Androl 24 (1), 67-72 (2022)
   PUBMED   34213489
  REMARK    GeneRIF: Biallelic mutations in spermatogenesis and
            centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa
            syndrome and male infertility.
REFERENCE   3  (bases 1 to 2304)
  AUTHORS   Katrinli,S., Zheng,Y., Gautam,A., Hammamieh,R., Yang,R.,
            Venkateswaran,S., Kilaru,V., Lori,A., Hinrichs,R., Powers,A.,
            Gillespie,C.F., Wingo,A.P., Michopoulos,V., Jovanovic,T.,
            Wolf,E.J., McGlinchey,R.E., Milberg,W.P., Miller,M.W.,
            Kugathasan,S., Jett,M., Logue,M.W., Ressler,K.J. and Smith,A.K.
  TITLE     PTSD is associated with increased DNA methylation across regions of
            HLA-DPB1 and SPATC1L
  JOURNAL   Brain Behav Immun 91, 429-436 (2021)
   PUBMED   33152445
  REMARK    GeneRIF: PTSD is associated with increased DNA methylation across
            regions of HLA-DPB1 and SPATC1L.
REFERENCE   4  (bases 1 to 2304)
  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   5  (bases 1 to 2304)
  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   6  (bases 1 to 2304)
  AUTHORS   Morgan,A., Vuckovic,D., Krishnamoorthy,N., Rubinato,E.,
            Ambrosetti,U., Castorina,P., Franze,A., Vozzi,D., La Bianca,M.,
            Cappellani,S., Di Stazio,M., Gasparini,P. and Girotto,G.
  TITLE     Next-generation sequencing identified SPATC1L as a possible
            candidate gene for both early-onset and age-related hearing loss
  JOURNAL   Eur J Hum Genet 27 (1), 70-79 (2019)
   PUBMED   30177775
  REMARK    GeneRIF: SPATC1L was identified as a candidate gene for early-onset
            and age-related hearing loss.
REFERENCE   7  (bases 1 to 2304)
  AUTHORS   Kim,J., Kwon,J.T., Jeong,J., Kim,J., Hong,S.H., Kim,J., Park,Z.Y.,
            Chung,K.H., Eddy,E.M. and Cho,C.
  TITLE     SPATC1L maintains the integrity of the sperm head-tail junction
  JOURNAL   EMBO Rep 19 (9) (2018)
   PUBMED   30026308
  REMARK    GeneRIF: these results implicate the SPATC1L-PKA complex in
            maintaining the stability of the sperm head-tail junction, thereby
            revealing a new molecular basis for sperm head-tail integrity.
REFERENCE   8  (bases 1 to 2304)
  AUTHORS   Yamada,Y., Sakuma,J., Takeuchi,I., Yasukochi,Y., Kato,K., Oguri,M.,
            Fujimaki,T., Horibe,H., Muramatsu,M., Sawabe,M., Fujiwara,Y.,
            Taniguchi,Y., Obuchi,S., Kawai,H., Shinkai,S., Mori,S., Arai,T. and
            Tanaka,M.
  TITLE     Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel
            susceptibility loci for atrial fibrillation by an exome-wide
            association study
  JOURNAL   Mol Med Rep 16 (5), 5823-5832 (2017)
   PUBMED   28849223
  REMARK    GeneRIF: TNFSF13, SPATC1L, SLC22A25 and SALL4 may thus be novel
            susceptibility loci for atrial fibrillation in the Japanese
            population
REFERENCE   9  (bases 1 to 2304)
  AUTHORS   Yamada,Y., Sakuma,J., Takeuchi,I., Yasukochi,Y., Kato,K., Oguri,M.,
            Fujimaki,T., Horibe,H., Muramatsu,M., Sawabe,M., Fujiwara,Y.,
            Taniguchi,Y., Obuchi,S., Kawai,H., Shinkai,S., Mori,S., Arai,T. and
            Tanaka,M.
  TITLE     Identification of EGFLAM, SPATC1L and RNASE13 as novel
            susceptibility loci for aortic aneurysm in Japanese individuals by
            exome-wide association studies
  JOURNAL   Int J Mol Med 39 (5), 1091-1100 (2017)
   PUBMED   28339009
  REMARK    GeneRIF: rs1465567 of EGFLAM and rs113710653 of SPATC1L may be
            susceptibility loci for true aortic aneurysm and rs143881017 of
            RNASE13 may be such a locus for dissecting aortic aneurysm in
            Japanese individuals.
REFERENCE   10 (bases 1 to 2304)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK304535.1, AP001468.1 and AW138006.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001142854.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The extent of this RefSeq
            transcript is supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304535.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2142680,
                                           SAMEA2145245 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291672.6/ ENSP00000291672.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-219               AK304535.1         1-219
            220-886             AP001468.1         28524-29190         c
            887-2303            AK304535.1         887-2303
            2304-2304           AW138006.1         29-29               c
FEATURES             Location/Qualifiers
     source          1..2304
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2304
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /note="spermatogenesis and centriole associated 1 like"
                     /db_xref="GeneID:84221"
                     /db_xref="HGNC:HGNC:1298"
                     /db_xref="MIM:612412"
     exon            1..104
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            105..1255
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /inference="alignment:Splign:2.1.0"
     CDS             1063..2085
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /note="isoform 1 is encoded by transcript variant 1;
                     speriolin-like protein; spermatogenesis and
                     centriole-associated protein 1-like protein"
                     /codon_start=1
                     /product="speriolin-like protein isoform 1"
                     /protein_id="NP_001136326.1"
                     /db_xref="CCDS:CCDS46653.1"
                     /db_xref="GeneID:84221"
                     /db_xref="HGNC:HGNC:1298"
                     /db_xref="MIM:612412"
                     /translation="MAEGGELMSRLLSENADLKKQVRLLKENQMLRRLLSQSCQEGGG
                     HDLLPPRAHAYPEAGSPGSGVPDFGRFTSVADTPSQLQTSSLEDLLCSHAPLSSEDDT
                     SPGCAAPSQAPFKAFLSPPEPHSHRGTDRKLSPLLSPLQDSLVDKTLLEPREMVRPKK
                     VCFSESSLPTGDRTRRSYYLNEIQSFAGAEKDARVVGEIAFQLDRRILAYVFPGVTRL
                     YGFTVANIPEKIEQTSTKSLDGSVDERKLRELTQRYLALSARLEKLGYSRDVHPAFSE
                     FLINTYGILKQRPDLRANPLHSSPAALRKLVIDVVPPKFLGDSLLLLNCLCELSKEDG
                     KPLFAW"
     exon            1256..1606
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1758
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /inference="alignment:Splign:2.1.0"
     exon            1759..2304
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2285..2290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /note="hexamer: ATTAAA"
     polyA_site      2304
                     /gene="SPATC1L"
                     /gene_synonym="C21orf56"
                     /note="major polyA site"
ORIGIN      
        1 gtgctttctg ccgtacgtcc cttcccatga ggatgagatg acccatctgt tgcatcccgg
       61 ctgctgataa aacaagaccc tcggagccaa gaaacaacac tgaggctgat ctccccgccc
      121 aggctggtct cccccgcagg ctggtctccc ccgcaagctg gtctcctccc ccaggctggt
      181 ctcctcacca ggctggtctc ctcccccagg ctgatctccc cgcccaggct ggtctccccc
      241 gcaggctggt ctcccccaca aggctggtct cctcccccag gctggtctcc tcaccaggct
      301 ggtctcctcc cccaggctga tctccccgcc caggctggtc tcccccgcag gctggtctcc
      361 cccgcaagct ggtctcccct gcaggctggt ctcctcccca ggctggtctc ccccgcagac
      421 tggtctcccc cacaagctgg tctccccacc aggctggtct cccccacatg ctggtctcct
      481 cccactgccc ttgccagtcc ctccctcctc aagtgtgggt gccaaggacg gaccctgatg
      541 aacacctgca catcagttgc tgccctgggt gccagggtcc acaggaagct gcactgggaa
      601 ccctgtgtcc tgggcaggtc ctatgggaag tgcagcccac atgttactcg ggtgaaggca
      661 gcgtccccac ccagcttgag gacaccacac agggtggaca cccgaccctg gctgggccgc
      721 tcaatgggga gtggcttgga cgcccctctt ggagtacagt cgctacatcc cgtagctgcc
      781 taatgtcctt ggcattctcg ggccctggtc ataatgtggg agtggctgcc tgtgcacgcc
      841 acgggcctcc agcttcactg cctcaacggg gccatgagcc atcgcggggg caggcagggt
      901 gctgggcacc tcatcactag ggcagtgaca tcacaaggcg tggaaggcgg tggtggctac
      961 ggaactccgt gcctgggctg tttctgtggt gcctgcgggc tctgggctcc cacctccatg
     1021 gggctgcagg agccgtgagg gacaaggagg gacgcacccg ccatggctga aggcggcgag
     1081 ctgatgagcc ggctcctgag cgagaacgcg gacctgaaga agcaggtgcg cctcctgaag
     1141 gagaatcaga tgctgcggcg gctgctcagc cagagctgcc aggagggcgg cggccacgac
     1201 ctgctcccac ccagggcgca tgcctaccct gaggccggct cccccgggag cggagttcca
     1261 gatttcggaa ggttcacgag tgttgccgac acgccctccc aactgcagac atcctccctg
     1321 gaggacctgc tgtgctcaca tgcccccctg tccagcgagg acgacacctc cccgggctgt
     1381 gcagccccct cccaggcacc cttcaaggcc ttcctcagtc ccccagagcc acatagccac
     1441 cgaggcaccg acaggaagct gtccccgctc ctgagcccct tgcaagactc actggtggac
     1501 aagaccctgc tggagcccag ggagatggtc cggcctaaga aggtgtgttt ctcggagagc
     1561 agcctgccca ccggggacag gaccaggagg agctactacc tcaatgagat ccagagcttc
     1621 gcgggcgccg agaaggacgc gcgcgtggtg ggcgagatcg ccttccagct ggaccgccgc
     1681 atcctggcct acgtgttccc gggcgtgacg cggctctacg gcttcacggt ggccaacatc
     1741 cccgagaaga tcgagcagac ctccaccaag tctctggacg gctccgtgga cgagaggaag
     1801 ctgcgcgagc tgacgcagcg ctacctggcc ctgagcgcgc gcctggagaa gctgggctac
     1861 agccgcgacg tgcacccggc gttcagcgag ttcctcatca acacctacgg aatcctgaag
     1921 cagcggcccg acctgcgcgc caaccccctg cacagcagcc cggccgcgct gcgcaagctg
     1981 gtcatcgacg tggtgccccc caagttcctg ggcgactcgc tgctgctgct caactgcctg
     2041 tgcgagctct ccaaggagga cggcaagccc ctcttcgcct ggtgagccgc cccgcgcccg
     2101 ccgccttgcc tgcagtaaac gcgtttgttc caacccgggg ccgcggtgcc tcctgcgcgt
     2161 ccccccggag gggaaagggc cgcgtccccc gcgcgcgagg ccagagaagg ccccgctccc
     2221 accggtgctg ggccccgacc gcagcccgcc gctgcccgca cctgcggagt gcttctcacc
     2281 cctcattaaa atcatccgtt tgca
//
