LOCUS       NM_020641               1049 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens equatorin (EQTN), transcript variant 1, mRNA.
ACCESSION   NM_020641 XM_035953
VERSION     NM_020641.3
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 1049)
  AUTHORS   Laaksovirta,H., Peuralinna,T., Schymick,J.C., Scholz,S.W.,
            Lai,S.L., Myllykangas,L., Sulkava,R., Jansson,L., Hernandez,D.G.,
            Gibbs,J.R., Nalls,M.A., Heckerman,D., Tienari,P.J. and Traynor,B.J.
  TITLE     Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a
            genome-wide association study
  JOURNAL   Lancet Neurol 9 (10), 978-985 (2010)
   PUBMED   20801718
  REMARK    GeneRIF: A genome-wide association study finds that the chromosome
            9p21 locus is a major cause of familial amyotrophic lateral
            sclerosis in the Finnish population.
REFERENCE   2  (bases 1 to 1049)
  AUTHORS   Li,Y.C., Hu,X.Q., Zhang,K.Y., Guo,J., Hu,Z.Y., Tao,S.X., Xiao,L.J.,
            Wang,Q.Z., Han,C.S. and Liu,Y.X.
  TITLE     Afaf, a novel vesicle membrane protein, is related to acrosome
            formation in murine testis
  JOURNAL   FEBS Lett 580 (17), 4266-4273 (2006)
   PUBMED   16831425
REFERENCE   3  (bases 1 to 1049)
  AUTHORS   Ruiz,A., Pujana,M.A. and Estivill,X.
  TITLE     Isolation and characterisation of a novel human gene (C9orf11) on
            chromosome 9p21, a region frequently deleted in human cancer
  JOURNAL   Biochim Biophys Acta 1517 (1), 128-134 (2000)
   PUBMED   11118625
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL133411.9, AJ278482.1, BC137352.1 and BX089774.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020641.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.364744.1,
                                           SRR5189667.246693.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380032.8/ ENSP00000369371.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AL133411.9         75884-75894         c
            12-41               AJ278482.1         1-30
            42-1006             BC137352.1         1-965
            1007-1049           BX089774.1         381-423
FEATURES             Location/Qualifiers
     source          1..1049
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.2"
     gene            1..1049
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /note="equatorin"
                     /db_xref="GeneID:54586"
                     /db_xref="HGNC:HGNC:1359"
                     /db_xref="MIM:617653"
     exon            1..171
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..980
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; Acrosome formation associated factor; acrosome
                     formation-associated factor; sperm acrosome associated 8;
                     equatorin, sperm acrosome associated"
                     /codon_start=1
                     /product="equatorin isoform 1 precursor"
                     /protein_id="NP_065692.2"
                     /db_xref="CCDS:CCDS35001.1"
                     /db_xref="GeneID:54586"
                     /db_xref="HGNC:HGNC:1359"
                     /db_xref="MIM:617653"
                     /translation="MNFILFIFIPGVFSLKSSTLKPTIEALPNVLPLNEDVNKQEEKN
                     EDHTPNYAPANEKNGNYYKDIKQYVFTTQNPNGTESEISVRATTDLNFALKNDKTVNA
                     TTYEKSTIEEETTTSEPSHKNIQRSTPNVPAFWTMLAKAINGTAVVMDDKDQLFHPIP
                     ESDVNATQGENQPDLEDLKIKIMLGISLMTLLLFVVLLAFCSATLYKLRHLSYKSCES
                     QYSVNPELATMSYFHPSEGVSDTSFSKSAESSTFLGTTSSDMRRSGTRTSESKIMTDI
                     ISIGSDNEMHENDESVTR"
     exon            172..297
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     exon            298..384
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     exon            385..471
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     exon            472..516
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     exon            517..576
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     exon            577..730
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     exon            731..1049
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1018..1023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /note="hexamer: AATAAA"
     polyA_site      1049
                     /gene="EQTN"
                     /gene_synonym="AFAF; C9orf11; SPACA8"
                     /note="major polyA site"
ORIGIN      
        1 ataatgtcct agttagacac aggacctgct gggccacaga aaggaggctc tgggtagacg
       61 cactagatta ctggataaat cacttcaatt tcccaatgaa ttttatattg tttattttta
      121 tacctggagt tttttcctta aaaagtagca ctttgaagcc tactattgaa gcattgccta
      181 atgtgctacc tttaaatgaa gatgttaata agcaggaaga aaagaatgaa gatcatactc
      241 ccaattatgc tcctgctaat gagaaaaatg gcaattatta taaagatata aaacaatatg
      301 tgttcacaac acaaaatcca aatggcactg agtctgaaat atctgtgaga gccacaactg
      361 acctgaattt tgctctaaaa aacgataaaa ctgtcaatgc aactacatat gaaaaatcca
      421 ccattgaaga agaaacaact actagcgaac cctctcataa aaatattcaa agatcaaccc
      481 caaacgtgcc tgcattttgg acaatgttag ctaaagctat aaatggaaca gcagtggtca
      541 tggatgataa agatcaatta tttcacccaa ttccagagtc tgatgtgaat gctacacagg
      601 gagaaaatca gccagatcta gaggatctga agatcaaaat aatgctggga atctcgttga
      661 tgaccctcct cctctttgtg gtcctcttgg cattctgtag tgctacactg tacaaactga
      721 ggcatctgag ttataaaagt tgtgagagtc agtactctgt caacccagag ctggccacga
      781 tgtcttactt tcatccatca gaaggtgttt cagatacatc cttttccaag agtgcagaga
      841 gcagcacatt tttgggtacc acttcttcag atatgagaag atcaggcaca agaacatcag
      901 aatctaagat aatgacggat atcatttcca taggctcaga taatgagatg catgaaaacg
      961 atgagtcggt tacccggtga agaaatcaag gaacccggtg aagaaatctt attgatgaat
     1021 aaataacttt aattattttg tcatcaaaa
//
