LOCUS       NM_001002036            2394 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens astacin like metalloendopeptidase (ASTL), mRNA.
ACCESSION   NM_001002036
VERSION     NM_001002036.4
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 2394)
  AUTHORS   Maddirevula,S., Coskun,S., Al-Qahtani,M., Aboyousef,O.,
            Alhassan,S., Aldeery,M. and Alkuraya,F.S.
  TITLE     ASTL is mutated in female infertility
  JOURNAL   Hum Genet 141 (1), 49-54 (2022)
   PUBMED   34704130
  REMARK    GeneRIF: ASTL is mutated in female infertility.
REFERENCE   2  (bases 1 to 2394)
  AUTHORS   Yang,H.X., Yang,Y., Li,X.D., Miao,X.M., Yang,C., Zhi,D.F., Su,H.,
            Yang,G., Gao,J., Du,C.G., Li,H.J., Song,Y.L. and Cao,G.F.
  TITLE     The detection of SAS1B in serum provides clues for early diagnosis
            of thyroid cancer
  JOURNAL   Eur Rev Med Pharmacol Sci 25 (3), 1410-1424 (2021)
   PUBMED   33629311
  REMARK    GeneRIF: The detection of SAS1B in serum provides clues for early
            diagnosis of thyroid cancer.
REFERENCE   3  (bases 1 to 2394)
  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   4  (bases 1 to 2394)
  AUTHORS   Pires,E.S., D'Souza,R.S., Needham,M.A., Herr,A.K., Jazaeri,A.A.,
            Li,H., Stoler,M.H., Anderson-Knapp,K.L., Thomas,T., Mandal,A.,
            Gougeon,A., Flickinger,C.J., Bruns,D.E., Pollok,B.A. and Herr,J.C.
  TITLE     Membrane associated cancer-oocyte neoantigen SAS1B/ovastacin is a
            candidate immunotherapeutic target for uterine tumors
  JOURNAL   Oncotarget 6 (30), 30194-30211 (2015)
   PUBMED   26327203
  REMARK    GeneRIF: The SAS1B metalloproteinase is proposed as a prototype
            cancer-oocyte tumor surface neoantigen for development of targeted
            immunotherapeutics with limited on-target/off tumor effects
            predicted to be restricted to the population of growing oocytes.
            Erratum:[Oncotarget. 2017 Feb 28;8(9):16099. doi:
            10.18632/oncotarget.15755.. PMID: 28403580]
REFERENCE   5  (bases 1 to 2394)
  AUTHORS   Pires,E.S., Hlavin,C., Macnamara,E., Ishola-Gbenla,K.,
            Doerwaldt,C., Chamberlain,C., Klotz,K., Herr,A.K., Khole,A.,
            Chertihin,O., Curnow,E., Feldman,S.H., Mandal,A., Shetty,J.,
            Flickinger,C. and Herr,J.C.
  TITLE     SAS1B protein [ovastacin] shows temporal and spatial restriction to
            oocytes in several eutherian orders and initiates translation at
            the primary to secondary follicle transition
  JOURNAL   Dev Dyn 242 (12), 1405-1426 (2013)
   PUBMED   24038607
  REMARK    GeneRIF: SAS1B protein [ovastacin] shows temporal and spatial
            restriction to oocytes in several eutherian orders and initiates
            translation at the primary to secondary follicle transition.
REFERENCE   6  (bases 1 to 2394)
  AUTHORS   Burkart,A.D., Xiong,B., Baibakov,B., Jimenez-Movilla,M. and Dean,J.
  TITLE     Ovastacin, a cortical granule protease, cleaves ZP2 in the zona
            pellucida to prevent polyspermy
  JOURNAL   J Cell Biol 197 (1), 37-44 (2012)
   PUBMED   22472438
REFERENCE   7  (bases 1 to 2394)
  AUTHORS   Sachdev,M., Mandal,A., Mulders,S., Digilio,L.C., Panneerdoss,S.,
            Suryavathi,V., Pires,E., Klotz,K.L., Hermens,L., Herrero,M.B.,
            Flickinger,C.J., van Duin,M. and Herr,J.C.
  TITLE     Oocyte specific oolemmal SAS1B involved in sperm binding through
            intra-acrosomal SLLP1 during fertilization
  JOURNAL   Dev Biol 363 (1), 40-51 (2012)
   PUBMED   22206759
REFERENCE   8  (bases 1 to 2394)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   9  (bases 1 to 2394)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012307.8.
            
            On Sep 4, 2020 this sequence version replaced NM_001002036.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC107126.1, AJ537600.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN02400289 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342380.3/ ENSP00000343674.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               AC012307.8         16721-16841         c
            122-247             AC012307.8         15914-16039         c
            248-309             AC012307.8         13690-13751         c
            310-403             AC012307.8         12304-12397         c
            404-521             AC012307.8         11764-11881         c
            522-703             AC012307.8         10879-11060         c
            704-785             AC012307.8         8403-8484           c
            786-940             AC012307.8         8163-8317           c
            941-2394            AC012307.8         1157-2610           c
FEATURES             Location/Qualifiers
     source          1..2394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..2394
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="astacin like metalloendopeptidase"
                     /db_xref="GeneID:431705"
                     /db_xref="HGNC:HGNC:31704"
                     /db_xref="MIM:608860"
     exon            1..121
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1362
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /EC_number="3.4.24.21"
                     /note="astacin-like metalloendopeptidase (M12 family);
                     ovastacin; oocyte astacin; astacin-like
                     metallo-endopeptidase (M12 family); sperm acrosomal SLLP1
                     binding; ZP2-proteinase"
                     /codon_start=1
                     /product="astacin-like metalloendopeptidase precursor"
                     /protein_id="NP_001002036.3"
                     /db_xref="CCDS:CCDS33249.1"
                     /db_xref="GeneID:431705"
                     /db_xref="HGNC:HGNC:31704"
                     /db_xref="MIM:608860"
                     /translation="MEGVGGLWPWVLGLLSLPGVILGAPLASSCAGACGTSFPDGLTP
                     EGTQASGDKDIPAINQGLILEETPESSFLIEGDIIRPSPFRLLSATSNKWPMGGSGVV
                     EVPFLLSSKYDEPSRQVILEALAEFERSTCIRFVTYQDQRDFISIIPMYGCFSSVGRS
                     GGMQVVSLAPTCLQKGRGIVLHELMHVLGFWHEHTRADRDRYIRVNWNEILPGFEINF
                     IKSQSSNMLTPYDYSSVMHYGRLAFSRRGLPTITPLWAPSVHIGQRWNLSASDITRVL
                     KLYGCSPSGPRPRGRGSHAHSTGRSPAPASLSLQRLLEALSAESRSPDPSGSSAGGQP
                     VPAGPGESPHGWESPALKKLSAEASARQPQTLASSPRSRPGAGAPGVAQEQSWLAGVS
                     TKPTVPSSEAGIQPVPVQGSPALPGGCVPRNHFKGMSED"
     exon            122..247
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            248..309
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            310..403
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            404..521
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            522..703
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            704..785
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            786..940
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     exon            941..2394
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2370..2375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="hexamer: AATAAA"
     polyA_site      2394
                     /gene="ASTL"
                     /gene_synonym="OOMD11; OZEMA11; SAS1B"
                     /note="major polyA site"
ORIGIN      
        1 gcaattaggt tactgtgtct tgctggggct tggtcttgtt tgctgaaggg gcagcagggc
       61 tctaccatgg agggtgtagg gggtctctgg ccttgggtgc tgggtctgct ctccttgcca
      121 ggtgtgatcc taggagcgcc cctggcctcc agctgcgcag gagcctgtgg taccagcttc
      181 ccagatggcc tcacccctga gggaacccag gcctccgggg acaaggacat tcctgcaatt
      241 aaccaagggc tcatcctgga agaaacccca gagagcagct tcctcatcga gggggacatc
      301 atccggccga gtcccttccg actgctgtca gcaaccagca acaaatggcc catgggtggt
      361 agtggtgtcg tggaggtccc cttcctgctc tccagcaagt acgatgagcc cagccgccag
      421 gtcatcctgg aggctcttgc ggagtttgaa cgttccacgt gcatcaggtt tgtcacctat
      481 caggaccaga gagacttcat ttccatcatc cccatgtatg ggtgcttctc gagtgtgggg
      541 cgcagtggag ggatgcaggt ggtctccctg gcgcccacgt gtctccagaa gggccggggc
      601 attgtccttc atgagctcat gcatgtgctg ggcttctggc acgagcacac gcgggccgac
      661 cgggaccgct atatccgtgt caactggaac gagatcctgc caggctttga aatcaacttc
      721 atcaagtctc agagcagcaa catgctgacg ccctatgact actcctctgt gatgcactat
      781 gggaggctcg ccttcagccg gcgtgggctg cccaccatca caccactttg ggcccccagt
      841 gtccacatcg gccagcgatg gaacctgagt gcctcggaca tcacccgggt cctcaaactc
      901 tacggctgca gcccaagtgg ccccaggccc cgtgggagag ggtcccatgc ccacagcact
      961 ggtaggagcc ccgctccggc ctccctatct ctgcagcggc ttttggaggc actgtcggcg
     1021 gaatccagga gccccgaccc cagtggttcc agtgcgggag gccagcccgt tcctgcaggg
     1081 cctggggaga gcccacatgg gtgggagtcc cctgccctga aaaagctcag tgcagaggcc
     1141 tcggcaaggc agcctcagac cctagcttcc tccccaagat caaggcctgg agcaggtgcc
     1201 cccggtgttg ctcaggagca gtcctggctg gccggagtgt ccaccaagcc cacagtccca
     1261 tcttcagaag caggaatcca gccagtccct gtccagggaa gcccagctct gccagggggc
     1321 tgtgtaccta gaaatcattt caaggggatg tccgaagatt aagcctgtgg cttctgtccc
     1381 caagtaggga gggcatcctc tgcccagtgg agctgggtcg tctacctctt ggctcctttg
     1441 ggccacacca ctgtcttcca gccccaacct accaccccat ctcagagggc caggactctt
     1501 cccctgtctc tcttcactgt gttcccctaa gggctcctag ggccaggggt tcttctagct
     1561 ctgccacagg ggaaggcagg cctggctgtg cctgctcttg acttttgccc agccctggtg
     1621 gatgctggga atgggaggtg acattctcca gggacaggtc ctggaagggg tggggaagag
     1681 gtaggttcca gccccgcaga accctggaat ccctcctgtg cctgaggccc tgccccccag
     1741 catggactaa tggtgtccct acctctccct cagggcagcc ctgtggctgg gaccctggga
     1801 acagcctccc atcccaccca acatgcccaa gtgtggggga atgttctaca gcagtgtagc
     1861 ctccagccct tctctccagg aggctttgag agcccaactt actcccctgc agagcaggaa
     1921 ggtggtaggt caagtgtggc caccattggg gagacgagaa agaagtgggg ccccaccaga
     1981 ttgcacaatg ggaacctcag ctggcccctg aacagaggac tcagttgtct ccaccctaca
     2041 ccgctattcc ctggagctca gccaggcgca gccttggaag gagaaagggc tggggttacc
     2101 tggcttgtcc tcctccagga aagccccctt cctcctctgc cccagctccc agcctggcct
     2161 cctccaggca ggccctactc ctctgcccca gctccggctt tccccatgag gtttgtccca
     2221 ggcatgaaga aagcatccag ggtgccaatg agtgggccta ggccagaggc ccctcagtcc
     2281 ccaagggtac tgttttggtg gcctttcaga gggtcaagga agccctgctt ggggtagaag
     2341 gggcaggagc cccacatgtt gggggaggaa ataaagtgga gtgtgctgtg ctga
//
