LOCUS       NM_001012425             855 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens chromosome 1 open reading frame 146 (C1orf146), mRNA.
ACCESSION   NM_001012425 XM_371268
VERSION     NM_001012425.2
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 855)
  AUTHORS   Qi,Y., Wang,Y., Li,W., Zhuang,S., Li,S., Xu,K., Qin,Y. and Guo,T.
  TITLE     Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in
            premature ovarian insufficiency
  JOURNAL   Clin Genet 104 (4), 486-490 (2023)
   PUBMED   37270785
  REMARK    GeneRIF: Pathogenic bi-allelic variants of meiotic ZMM complex gene
            SPO16 in premature ovarian insufficiency.
REFERENCE   2  (bases 1 to 855)
  AUTHORS   Liu,H., Huang,T., Li,M., Li,M., Zhang,C., Jiang,J., Yu,X., Yin,Y.,
            Zhang,F., Lu,G., Luo,M.C., Zhang,L.R., Li,J., Liu,K. and Chen,Z.J.
  TITLE     SCRE serves as a unique synaptonemal complex fastener and is
            essential for progression of meiosis prophase I in mice
  JOURNAL   Nucleic Acids Res 47 (11), 5670-5683 (2019)
   PUBMED   30949703
REFERENCE   3  (bases 1 to 855)
  AUTHORS   Zhang,Q., Ji,S.Y., Busayavalasa,K. and Yu,C.
  TITLE     SPO16 binds SHOC1 to promote homologous recombination and
            crossing-over in meiotic prophase I
  JOURNAL   Sci Adv 5 (1), eaau9780 (2019)
   PUBMED   30746471
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 855)
  AUTHORS   Ersland,K.M., Havik,B., Rinholm,J.E., Gundersen,V., Stansberg,C.
            and Steen,V.M.
  TITLE     LOC689986, a unique gene showing specific expression in restricted
            areas of the rodent neocortex
  JOURNAL   BMC Neurosci 14, 68 (2013)
   PUBMED   23844656
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 855)
  CONSRTM   International Human Genome Sequencing Consortium
  TITLE     Finishing the euchromatic sequence of the human genome
  JOURNAL   Nature 431 (7011), 931-945 (2004)
   PUBMED   15496913
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL451010.4, BU567193.1 and AA861282.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001012425.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.192384.1, BU567193.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370375.8/ ENSP00000359401.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-101               AL451010.4         10862-10962
            102-763             BU567193.1         80-741
            764-852             AA861282.1         6-94                c
            853-855             AL451010.4         38758-38760
FEATURES             Location/Qualifiers
     source          1..855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..855
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="chromosome 1 open reading frame 146"
                     /db_xref="GeneID:388649"
                     /db_xref="HGNC:HGNC:24032"
                     /db_xref="MIM:618968"
     exon            1..134
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /inference="alignment:Splign:2.1.0"
     exon            135..239
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..716
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="uncharacterized protein C1orf146; synaptonemal
                     complex reinforcing element"
                     /codon_start=1
                     /product="protein SPO16 homolog"
                     /protein_id="NP_001012425.1"
                     /db_xref="CCDS:CCDS30772.1"
                     /db_xref="GeneID:388649"
                     /db_xref="HGNC:HGNC:24032"
                     /db_xref="MIM:618968"
                     /translation="MAESGKEKIKWTTTIIISSSLKSYEVATALENRSHKVRYSDSVE
                     NGSIIFSLSGVAFLLMDTKECLLSTEEIFLAKIEKFINIHQNSFLVLSAALHGPEEWK
                     LMFRIQQRFLGCNLRILPVHNTVNAINLMCTIAKTTSKPYIDSICYRMITAKAYIIEQ
                     SPVWKTLQKIKLNSDSVNPN"
     exon            240..333
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /inference="alignment:Splign:2.1.0"
     exon            334..502
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /inference="alignment:Splign:2.1.0"
     exon            503..581
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /inference="alignment:Splign:2.1.0"
     exon            582..855
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /inference="alignment:Splign:2.1.0"
     regulatory      832..837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="hexamer: ATTAAA"
     polyA_site      855
                     /gene="C1orf146"
                     /gene_synonym="SCRE; SPO16"
                     /note="major polyA site"
ORIGIN      
        1 agaagcccag cgactgcaga accctgcccc aggcaccctg ggcgctctgc cctaccggcg
       61 gcgcctctca ctgctcacgg aacgttctgg aagtttggga aaccctgagc ggtctctgag
      121 gacctggtga gcagattgtt gcaccattag aagctaggtt gatccacaga cagatggctg
      181 aaagtggaaa agaaaaaata aaatggacaa ccaccattat tattagctca tctcttaaga
      241 gttatgaagt tgcaactgcc ctagaaaatc gaagccacaa agttcgatat tcagattcag
      301 tggaaaatgg atcaattata ttttctcttt ctggagttgc atttttatta atggatacta
      361 aggaatgtct tctgtcaact gaagaaatat ttctagccaa aattgagaaa tttattaaca
      421 ttcaccaaaa tagttttttg gttttgtctg ctgccctcca tgggcctgaa gaatggaaac
      481 tgatgttcag gattcagcag agattcctgg gttgtaactt acgaatactt ccagtacaca
      541 acacagtaaa tgctattaat cttatgtgca ctatagcaaa gactacctcc aaaccataca
      601 tagatagcat ttgctacaga atgataacag ctaaagctta catcattgag caaagtcctg
      661 tttggaaaac acttcagaag ataaaactga atagtgattc agttaaccca aattagagta
      721 ccaacttaat gtttttctcg aagaatgtga aaataattag acctgttaaa ttataatatt
      781 caaatatcta tttaaagaca tttatattaa tttgaaataa taacatatac aattaaaagt
      841 gattttattt tagga
//
