LOCUS       NM_001612               1936 bp    mRNA    linear   PRI 19-JAN-2024
DEFINITION  Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript
            variant 1, mRNA.
ACCESSION   NM_001612
VERSION     NM_001612.6
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 1936)
  AUTHORS   Yu,X., Ton,A.N., Niu,Z., Morales,B.M., Chen,J., Braz,J., Lai,M.H.,
            Barruet,E., Liu,H., Cheung,K., Ali,S., Chan,T., Bigay,K., Ho,J.,
            Nikolli,I., Hansberry,S., Wentworth,K., Kriegstein,A., Basbaum,A.
            and Hsiao,E.C.
  TITLE     ACVR1-activating mutation causes neuropathic pain and sensory
            neuron hyperexcitability in humans
  JOURNAL   Pain 164 (1), 43-58 (2023)
   PUBMED   35442931
  REMARK    GeneRIF: ACVR1-activating mutation causes neuropathic pain and
            sensory neuron hyperexcitability in humans.
REFERENCE   2  (bases 1 to 1936)
  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   3  (bases 1 to 1936)
  AUTHORS   Loughner,C.L., Bruford,E.A., McAndrews,M.S., Delp,E.E.,
            Swamynathan,S. and Swamynathan,S.K.
  TITLE     Organization, evolution and functions of the human and mouse
            Ly6/uPAR family genes
  JOURNAL   Hum Genomics 10, 10 (2016)
   PUBMED   27098205
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1936)
  AUTHORS   Tang,A., Yan,Q., Sun,L., Diao,R., Yu,Z., Zhang,Z., Gui,Y. and
            Cai,Z.
  TITLE     Developmental expression of ACRV1 in humans and mice
  JOURNAL   Andrologia 44 (1), 16-22 (2012)
   PUBMED   21488928
  REMARK    GeneRIF: ACRV1 protein was predominantly located in round and
            elongated spermatids in testes, indicating that ACRV1 may play an
            important role in mammalian spermatogenesis
REFERENCE   5  (bases 1 to 1936)
  AUTHORS   Lalmansingh,A.S., Urekar,C.J. and Reddi,P.P.
  TITLE     TDP-43 is a transcriptional repressor: the testis-specific mouse
            acrv1 gene is a TDP-43 target in vivo
  JOURNAL   J Biol Chem 286 (13), 10970-10982 (2011)
   PUBMED   21252238
REFERENCE   6  (bases 1 to 1936)
  AUTHORS   Freemerman,A.J., Flickinger,C.J. and Herr,J.C.
  TITLE     Characterization of alternatively spliced human SP-10 mRNAs
  JOURNAL   Mol Reprod Dev 41 (1), 100-108 (1995)
   PUBMED   7619499
REFERENCE   7  (bases 1 to 1936)
  AUTHORS   Foster,J.A., Klotz,K.L., Flickinger,C.J., Thomas,T.S., Wright,R.M.,
            Castillo,J.R. and Herr,J.C.
  TITLE     Human SP-10: acrosomal distribution, processing, and fate after the
            acrosome reaction
  JOURNAL   Biol Reprod 51 (6), 1222-1231 (1994)
   PUBMED   7888499
REFERENCE   8  (bases 1 to 1936)
  AUTHORS   Herr,J.C., Klotz,K., Shannon,J., Wright,R.M. and Flickinger,C.J.
  TITLE     Purification and microsequencing of the intra-acrosomal protein
            SP-10. Evidence that SP-10 heterogeneity results from
            endoproteolytic processes
  JOURNAL   Biol Reprod 47 (1), 11-20 (1992)
   PUBMED   1637938
REFERENCE   9  (bases 1 to 1936)
  AUTHORS   Wright,R.M., John,E., Klotz,K., Flickinger,C.J. and Herr,J.C.
  TITLE     Cloning and sequencing of cDNAs coding for the human
            intra-acrosomal antigen SP-10
  JOURNAL   Biol Reprod 42 (4), 693-701 (1990)
   PUBMED   1693291
  REMARK    Erratum:[Biol Reprod 1990 Nov;43(5):following 903]
REFERENCE   10 (bases 1 to 1936)
  AUTHORS   Homyk,M., Anderson,D.J., Wolff,H. and Herr,J.C.
  TITLE     Differential diagnosis of immature germ cells in semen utilizing
            monoclonal antibody MHS-10 to the intra-acrosomal antigen SP-10
  JOURNAL   Fertil Steril 53 (2), 323-330 (1990)
   PUBMED   2298314
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014588.2 and AP001132.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001612.5.
            
            Summary: This gene encodes a testis-specific, differentiation
            antigen, acrosomal vesicle protein 1, that arises within the
            acrosomal vesicle during spermatogenesis, and is associated with
            the acrosomal membranes and matrix of mature sperm. The acrosomal
            vesicle protein 1 may be involved in sperm-zona binding or
            penetration. Alternatively spliced transcript variants have been
            described. [provided by RefSeq, Nov 2010].
            
            Transcript Variant: This variant (1) represents the full length
            form of this gene, which encodes 265 aa. All other variants, as
            compared to this variant, lack one or two in-frame fragments in
            exons II and/or III.
            
            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 :: AK223335.1, BC014588.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000533904.6/ ENSP00000432816.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1124              BC014588.2         28-1151
            1125-1936           AP001132.4         64854-65665         c
FEATURES             Location/Qualifiers
     source          1..1936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..1936
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /note="acrosomal vesicle protein 1"
                     /db_xref="GeneID:56"
                     /db_xref="HGNC:HGNC:127"
                     /db_xref="MIM:102525"
     exon            1..119
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..865
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; sperm protein 10; acrosomal protein SP-10"
                     /codon_start=1
                     /product="acrosomal protein SP-10 isoform a precursor"
                     /protein_id="NP_001603.1"
                     /db_xref="CCDS:CCDS8460.1"
                     /db_xref="GeneID:56"
                     /db_xref="HGNC:HGNC:127"
                     /db_xref="MIM:102525"
                     /translation="MNRFLLLMSLYLLGSARGTSSQPNELSGSIDHQTSVQQLPGEFF
                     SLENPSDAEALYETSSGLNTLSEHGSSEHGSSKHTVAEHTSGEHAESEHASGEPAATE
                     HAEGEHTVGEQPSGEQPSGEHLSGEQPLSELESGEQPSDEQPSGEHGSGEQPSGEQAS
                     GEQPSGEHASGEQASGAPISSTSTGTILNCYTCAYMNDQGKCLRGEGTCITQNSQQCM
                     LKKIFEGGKLQFMVQGCENMCPSMNLFSHGTRMQIICCRNQSFCNKI"
     exon            120..620
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /inference="alignment:Splign:2.1.0"
     exon            621..740
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /inference="alignment:Splign:2.1.0"
     exon            741..1936
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1101..1106
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /note="hexamer: AATAAA"
     polyA_site      1124
                     /gene="ACRV1"
                     /gene_synonym="D11S4365; SP-10; SPACA2"
                     /note="major polyA site"
ORIGIN      
        1 agtttgcttc atagctctgt gaagaagctg tggcccacac tggggtcccc tcttttccta
       61 aatccagatg aacaggtttc tcttgctaat gagtctttat ctgcttggat ctgccagagg
      121 aacatcaagt cagcctaatg agctttctgg ctccatagat catcaaactt cagttcagca
      181 acttccaggt gagttctttt cacttgaaaa cccttctgat gctgaggctt tatatgagac
      241 ttcttcaggc ctgaacactt taagtgagca tggttccagt gagcatggtt caagcaagca
      301 cactgtggcc gagcacactt ctggagaaca tgctgagagt gagcatgctt caggtgagcc
      361 cgctgcgact gaacatgctg aaggtgagca tactgtaggt gagcagcctt caggagaaca
      421 gccttcaggt gaacacctct ccggagaaca gcctttgagt gagcttgagt caggtgaaca
      481 gccttcagat gaacagcctt caggtgaaca tggctccggt gaacagcctt ctggtgagca
      541 ggcctcgggt gaacagcctt caggtgagca cgcttcaggg gaacaggctt caggtgcacc
      601 aatttcaagc acatctacag gcacaatatt aaattgctac acatgtgctt atatgaatga
      661 tcaaggaaaa tgtcttcgtg gagagggaac ctgcatcact cagaattccc agcagtgcat
      721 gttaaagaag atctttgaag gtggaaaact ccaattcatg gttcaagggt gtgagaacat
      781 gtgcccatct atgaacctct tctcccatgg aacgaggatg caaattatat gctgtcgaaa
      841 tcaatctttc tgcaataaga tctagaagcc tgggcccttg cttgttttga ctcaggcagt
      901 aaaaagcctc catcactcta tttggctcat tttatattta gttccttccc cagtcaacaa
      961 ctgaccacat ctgcctctgc ctgagcatta ggatgctcaa acatcctatc tttcttcttc
     1021 tattcatgct tttatccatt cttctctgtc ctgtcttccc tgctccaact ctttctctca
     1081 atattcctga tttttttttc aataaatttc acatggttaa agcacacagg ctcaagacag
     1141 accttttttt cccccattaa tctagttgca gggtcaacat gagcttcctt ccacaccgac
     1201 actaaactgg gtgcattgtt taagcattcc atatttatga aagtaaagga gtctccaagg
     1261 gcagagacaa caaagaggaa tgcaaagtag gtattaatct tttacagggt gtaaacgtgc
     1321 aggtacttct gacacccccc cttttccatc cctacacact cttccattta ttatggcata
     1381 caaaaactca actcttcttt ggctcttgag agtttctagt cttcagtagt ccactactaa
     1441 cataatgata atagtataat gattccttat ttgctatata ttgcagcagt tcataatgct
     1501 taaatcattt ttttcacaca caatgttact gaatcatcta tacaggatag gagggcaaat
     1561 ggaaatacta aacggtccct catataagtg ttatgttctt caagatgttt tcacatacac
     1621 ggtctcatct gatcctcagg aaagatccca gagtggtaga caggaaagat ggcatcatcc
     1681 ttttttgcaa ataaggaaat gtgacacaga gatgttttct ttattcatac tccatgttgt
     1741 tccaaattta ccaaggttac agagctacag agagctatag gcagattcca caaccaaatc
     1801 tgcaagatct aaatctgagc tgtttccacc acaatgaaag tagccagaat ggttctaaga
     1861 actcttagaa cagtacaaca agaagtcaat tttactgtat ataaaattta aaatttcaac
     1921 atatatacac atcatg
//
