LOCUS       NM_001286574            1309 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens armadillo repeat containing 12 (ARMC12), transcript
            variant 2, mRNA.
ACCESSION   NM_001286574 XM_005248921
VERSION     NM_001286574.2
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 1309)
  AUTHORS   Liu,W., Wei,X., Liu,X., Chen,G., Zhang,X., Liang,X., Isachenko,V.,
            Sha,Y. and Wang,Y.
  TITLE     Biallelic mutations in ARMC12 cause asthenozoospermia and multiple
            midpiece defects in humans and mice
  JOURNAL   J Med Genet 60 (2), 154-162 (2023)
   PUBMED   35534203
  REMARK    GeneRIF: Biallelic mutations in ARMC12 cause asthenozoospermia and
            multiple midpiece defects in humans and mice.
REFERENCE   2  (bases 1 to 1309)
  AUTHORS   Shimada,K., Park,S., Miyata,H., Yu,Z., Morohoshi,A., Oura,S.,
            Matzuk,M.M. and Ikawa,M.
  TITLE     ARMC12 regulates spatiotemporal mitochondrial dynamics during
            spermiogenesis and is required for male fertility
  JOURNAL   Proc Natl Acad Sci U S A 118 (6) (2021)
   PUBMED   33536340
  REMARK    GeneRIF: ARMC12 regulates spatiotemporal mitochondrial dynamics
            during spermiogenesis and is required for male fertility.
REFERENCE   3  (bases 1 to 1309)
  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 1309)
  AUTHORS   Li,D., Song,H., Mei,H., Fang,E., Wang,X., Yang,F., Li,H., Chen,Y.,
            Huang,K., Zheng,L. and Tong,Q.
  TITLE     Armadillo repeat containing 12 promotes neuroblastoma progression
            through interaction with retinoblastoma binding protein 4
  JOURNAL   Nat Commun 9 (1), 2829 (2018)
   PUBMED   30026490
  REMARK    GeneRIF: ARMC12 promotes neuroblastoma progression through
            interaction with RBBP4.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB070109.1, AL157823.9 and AA625684.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001286574.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in its 5' terminal exon, resulting in the loss of an in-frame
            segment in the 5' coding region, compared to variant 1. The encoded
            isoform (b) is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.114055.1,
                                           SRR5189667.351124.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373866.4/ ENSP00000362973.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-328               DB070109.1         1-328
            329-386             AL157823.9         39007-39064
            387-521             AL157823.9         39276-39410
            522-695             AL157823.9         48153-48326
            696-767             AL157823.9         48468-48539
            768-805             AL157823.9         49430-49467
            806-1143            AA625684.1         8-345               c
            1144-1309           AL157823.9         49806-49971
FEATURES             Location/Qualifiers
     source          1..1309
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.31"
     gene            1..1309
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /note="armadillo repeat containing 12"
                     /db_xref="GeneID:221481"
                     /db_xref="HGNC:HGNC:21099"
                     /db_xref="MIM:620377"
     exon            1..240
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..1100
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /note="isoform b is encoded by transcript variant 2;
                     armadillo repeat-containing protein 12"
                     /codon_start=1
                     /product="armadillo repeat-containing protein 12 isoform
                     b"
                     /protein_id="NP_001273503.1"
                     /db_xref="CCDS:CCDS69093.1"
                     /db_xref="GeneID:221481"
                     /db_xref="HGNC:HGNC:21099"
                     /db_xref="MIM:620377"
                     /translation="MGKSIPQYLGQLDIRKSVVSLATGAGAIYLLYKAIKAGIKCKPP
                     LCSNSPICIARLAVERERHGRDSGELRRLLNSLECKQDEYAKSMILHSITRCVYLLEA
                     EASACTTDDIVLLGYMLDDKDNSVKTQALNTLKAFSGIRKFRLKIQEHSIKVLELIST
                     IWDTELHIAGLRLLNNLPLPDYVHPQLRRVMPALMEILQSDYILAQVQAVRLLSYLAQ
                     KNDLLYDILNCQVHSNFLNLFQPTQSGSLLYEVLVFAERLSEGRNAPHYHVVKWHYNE
                     QSLHESLFGEESRLADRLLALVIHPEEDVQIQACKVIVSLQYPQDLRARPSSCQPSRS
                     YFKNTE"
     exon            241..386
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /inference="alignment:Splign:2.1.0"
     exon            387..521
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /inference="alignment:Splign:2.1.0"
     exon            522..695
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /inference="alignment:Splign:2.1.0"
     exon            696..767
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /inference="alignment:Splign:2.1.0"
     exon            768..1309
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1096..1101
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /note="hexamer: AATAAA"
     regulatory      1115..1120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /note="hexamer: AATAAA"
     polyA_site      1124
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /note="major polyA site"
     polyA_site      1143
                     /gene="ARMC12"
                     /gene_synonym="C6orf81; SPGF90"
                     /note="major polyA site"
ORIGIN      
        1 agagttctgg ttccggaagg ccccccacag gtgccttggg cctagctctc acctgggccc
       61 agggcaacac tgaagacatg ggcaagagca tcccccaata cctggggcaa ctggacatcc
      121 gcaaaagcgt agtcagcctg gccacaggcg ccggggcgat ctacctgctc tacaaggcca
      181 tcaaggctgg cataaaatgc aaaccacccc tctgtagcaa ctcacccatc tgcatcgccc
      241 gcctggcagt cgagcgagag cggcacgggc gggactcagg tgagctccgg aggctcctca
      301 actctttgga gtgcaaacag gatgagtatg ccaagagcat gatcctgcac agtatcactc
      361 gctgtgtgta cttgctggag gctgaggcct ctgcttgtac tacggatgac atcgtgttgc
      421 tgggctacat gctggatgac aaggacaaca gtgtcaaaac ccaagctctg aatacactta
      481 aagctttctc tggcatcaga aaattcaggc tcaaaatcca ggaacactcc atcaaagtac
      541 tcgaactgat ctccaccatc tgggacacgg aactgcacat tgcgggcctc agactcctca
      601 acaaccttcc actgcccgac tatgtgcatc cacagctgcg acgggtgatg cctgccttga
      661 tggagatcct gcagtcagac tacatcctgg cacaggtgca agccgtacga ctgctgagct
      721 acctggcaca gaagaatgac cttctctatg acattctcaa ctgccaggtt cactccaact
      781 tcctaaacct gttccagccc acacagtcag ggagtctcct gtatgaggta ctggtgtttg
      841 ctgagcggct gagtgagggc cggaacgcac cccactacca cgtggtgaaa tggcattaca
      901 acgaacagtc cctgcatgaa tccctctttg gggaagagtc ccgactggca gaccgactac
      961 ttgccctggt catccaccct gaggaagatg ttcagatcca ggcctgcaag gtcattgtca
     1021 gcctgcagta tccccaggac ttgagagccc ggccctcctc ctgccagccc agtcgttcct
     1081 actttaaaaa cacggaataa aattaaggag agccaataaa tgagtatagg agagaaactt
     1141 gaagtttctt gaagctcgaa tgtctgttgg tggccttcca gggctgggtg gagatttcat
     1201 tcagcataac ctctgctcca gagtgtggta cagcatgggc ttatctctca aaacacatcc
     1261 ccacttctat gtttggggga ctagctcccc tcttctcttg ctgcttttc
//
