LOCUS       NM_001199140            4692 bp    mRNA    linear   PRI 16-FEB-2024
DEFINITION  Homo sapiens AMMECR1 like (AMMECR1L), transcript variant 2, mRNA.
ACCESSION   NM_001199140
VERSION     NM_001199140.2
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 4692)
  AUTHORS   Moyses-Oliveira,M., Giannuzzi,G., Fish,R.J., Rosenfeld,J.A.,
            Petit,F., Soares,M.F., Kulikowski,L.D., Di-Battista,A.,
            Zamariolli,M., Xia,F., Liehr,T., Kosyakova,N., Carvalheira,G.,
            Parker,M., Seaby,E.G., Ennis,S., Gilbert,R.D., Hagelstrom,R.T.,
            Cremona,M.L., Li,W.L., Malhotra,A., Chandrasekhar,A., Perry,D.L.,
            Taft,R.J., McCarrier,J., Basel,D.G., Andrieux,J., Stumpp,T.,
            Antunes,F., Pereira,G.J., Neerman-Arbez,M., Meloni,V.A.,
            Drummond-Borg,M., Melaragno,M.I. and Reymond,A.
  TITLE     Inactivation of AMMECR1 is associated with growth, bone, and heart
            alterations
  JOURNAL   Hum Mutat 39 (2), 281-291 (2018)
   PUBMED   29193635
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC012306.11.
            
            On Nov 21, 2019 this sequence version replaced NM_001199140.1.
            
            Transcript Variant: This variant (2) has an alternate 5' UTR and
            encodes the same protein, as compared to variant 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC078174.1, SRR18074969.1404494.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272647.10/ ENSP00000272647.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-147               AC012306.11        35010-35156         c
            148-257             AC012306.11        33403-33512         c
            258-702             AC012306.11        23028-23472         c
            703-813             AC012306.11        20449-20559         c
            814-928             AC012306.11        20014-20128         c
            929-1019            AC012306.11        18654-18744         c
            1020-1116           AC012306.11        16100-16196         c
            1117-4692           AC012306.11        10830-14405         c
FEATURES             Location/Qualifiers
     source          1..4692
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..4692
                     /gene="AMMECR1L"
                     /note="AMMECR1 like"
                     /db_xref="GeneID:83607"
                     /db_xref="HGNC:HGNC:28658"
     exon            1..147
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     exon            148..257
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     exon            258..702
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             296..1228
                     /gene="AMMECR1L"
                     /note="isoform 1 is encoded by transcript variant 2;
                     AMMECR1-like protein; AMME chromosomal region gene 1-like"
                     /codon_start=1
                     /product="AMMECR1-like protein isoform 1"
                     /protein_id="NP_001186069.1"
                     /db_xref="CCDS:CCDS2152.1"
                     /db_xref="GeneID:83607"
                     /db_xref="HGNC:HGNC:28658"
                     /translation="MGKRRCVPPLEPKLAAGCCGVKKPKLSGSGTHSHGNQSTTVPGS
                     SSGPLQNHQHVDSSSGRENVSDLTLGPGNSPITRMNPASGALSPLPRPNGTANTTKNL
                     VVTAEMCCYCFDVLYCHLYGFPQPRLPRFTNDPYPLFVTWKTGRDKRLRGCIGTFSAM
                     NLHSGLREYTLTSALKDSRFPPLTREELPKLFCSVSLLTNFEDASDYLDWEVGVHGIR
                     IEFINEKGVKRTATYLPEVAKEQDWDQIQTIDSLLRKGGFKAPITSEFRKTIKLTRYR
                     SEKVTISYAEYIASRQHCFQNGTLHAPPLYNHYS"
     exon            703..813
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     exon            814..928
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1019
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1116
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..4692
                     /gene="AMMECR1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4671..4676
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMMECR1L"
                     /note="hexamer: AATAAA"
     polyA_site      4692
                     /gene="AMMECR1L"
                     /note="major polyA site"
ORIGIN      
        1 gccccgtccg cgcagcgcgt ccggcccgcc cgcaggccag cttctctcgg gagcccccac
       61 ccaggcgcat ggctccatga agcaagagga ggaggcagag cgcgagaggt cccgtccgcc
      121 ccagccgcgt ctgggccagg agaaaaggta caggaagaag gaatggaatc ggaaggaaga
      181 aaattcattc cagagacaaa atagctcccc tcctctgttg tagctgttcc tctggcaata
      241 caaactttct gctttcaggt tctgcagcat tccagacctt gagcactgaa tcaggatggg
      301 aaaaagacgt tgtgttcctc cactcgagcc caagttggca gcaggctgtt gtggggtcaa
      361 gaagcccaaa ttatctggaa gtggaacgca cagtcacggg aatcagtcca caactgtccc
      421 cggctctagt tcaggacctc ttcaaaacca ccagcatgtg gacagcagca gtggacggga
      481 gaatgtgtca gacttaactc tgggacctgg aaactctccc atcacacgaa tgaatcccgc
      541 atcgggagcg ctgagccctc ttccccggcc taatggaact gccaacacca ctaagaatct
      601 ggtggtgact gcagagatgt gctgctactg cttcgacgta ctctactgtc acctctatgg
      661 cttcccacag ccacgacttc ctagattcac caatgacccc tatccgctct ttgtgacgtg
      721 gaagacaggg cgggacaagc ggcttcgtgg ctgcattggg accttctcag ccatgaatct
      781 tcattcagga ctcagggaat acacgttaac cagtgcactt aaggacagcc gatttccccc
      841 cctgacccga gaggagctgc ctaaactttt ctgctctgtc tccctcctta ctaactttga
      901 ggatgccagt gattacctgg actgggaggt aggggtccat gggattcgaa ttgaattcat
      961 taatgaaaaa ggtgtcaaac gcacagccac atatttacct gaggttgcta aggaacaaga
     1021 ctgggatcag atccagacaa tagactcctt gctcaggaaa ggtggcttta aagctccaat
     1081 taccagtgaa ttcagaaaaa cgatcaaact caccaggtac cgaagtgaga aggtgacaat
     1141 cagttacgca gagtatattg cttcccgaca gcactgtttc cagaacggca ctcttcatgc
     1201 cccgcccctc tacaatcatt actcctgaca cacggctgca tgaccagtcc cacccccccg
     1261 tggccaccaa tggctatgac atcattggag cagatgcctc ctcttcctgg tccagttact
     1321 tctattactg caccatttta tgatgctagc ttccgttgcc aagtctgcct cccgctgact
     1381 gagggagggt agggttacct tgaacgaaac agaacttgag gggcccaagc cttatctcag
     1441 cctttcctca atatggggtt ccgttggatt ggggctcctc catgactagt gggaattact
     1501 gtgggttcag aagacccttg tctggtattt gccacatggg gtattggcca cacgctggaa
     1561 gctgaaattg atgatccctg aaggttgaac ccacacacac ccctgcagcc tccccagatg
     1621 aagtaggtgt attcccctgg cagtctgggc aacggagacc aagaaacatt tttaggttgt
     1681 tttaaattcc tttttttaaa cttccagttt attgcgtacc aagagttgat tacaacctcc
     1741 atgcttcata agcggacgcc acgttagggt tggacgtggg caccacgagt cctttgaggc
     1801 tcctggacag agacccacat caagatcgga agccctttgg gtggcgttgc agatctcatt
     1861 gctcagtagg ccgtgaagat tttcatcctc atcccactct cagttggatt ttctggcact
     1921 cttcctgcat tgagtctcct gattactgaa cagagctccg tcatgtagcc tgctgaggaa
     1981 tggaatggaa tggagatgcc cacaggaggt cctgatgtca tcactgcacg caggtgtgag
     2041 aggagagacc tcttctgcac cgcctggcta cctcactcct ctgctggtag cagtgcctat
     2101 agctggacct aagttctcag aagcgtagat gtgcaaacaa gcgattgagt tgggctttag
     2161 gaggacacat cataggagag aatccagggt ctgtaagctg gttttctttt caggtgacat
     2221 cctgaggggc ctgtaagcag gggagctcct ttttctagtt tgcctgtaga ggtgggaaga
     2281 ctgttggtgt ttctgtcctt tacaggacat taggaaacag ttgtgtaatt acacaaggtg
     2341 gacctttatc ttgcctgaca tgctgggaat cttcacccca ccagggcaaa tttccaaata
     2401 gctcatttta ttctaggtct ttcaaacttt catgtgacat atttcccttt cccattgttg
     2461 ctgatttcca aatcgctgtc agcaattttt tcctctctcc ttgcctattc ttcactcatt
     2521 tggtggcaaa gttcatagaa ctaggggact tggaagatgc tttgaaaata ttgttacaaa
     2581 ggcactgcta aaatgattca cagggagagt ggccagttgg aagaaggatc ctaaggatgt
     2641 gacactggtt ttcaacaaca tgcttagaga actcatgaag tggattgggt gtcaacccag
     2701 tgaacatgtt tttatttaat ttattttttg aagtttatgt ggtgatggtg tggctttccg
     2761 aaatgggcaa atattcagaa gatcttttgc attttcttct gtcaggaatg gggaagggga
     2821 gtgggggcac aatctgagaa aggacacctg tgctgttcta ggcatcgctg gcaagtttgt
     2881 gggaagggat gggcaagggt gagtgggttt gctccacacc gtcctgtgct gctcgagagg
     2941 acctgggacg tgcgagggaa acgtgggtga cggtgcctag gctgcggccc ttcactgctg
     3001 tgctgggttc ctgcagcctg ctacgtttcc cttggcaatg taaatgaaga tggaggggtc
     3061 gtttcgtgat ttcctgctgc tgagaataaa tgtcttgtta aaaacgtggc aacggttact
     3121 cttaggtgcc atggatcgat gtcagggtgg tcagctctgg actaagccac ccacctccaa
     3181 tttgtacaac agtattgata catagggcta cactcattac tgttcaagtg ttctatgtta
     3241 agagttgtgt ttaatttcta aagattaaaa aaagcaaaaa aattggtgct aaaccttcac
     3301 ccctgagcac gctcagtgag actggtcatg caagcattta cagtgccatg ctcctcaagc
     3361 cgattttttc ttgtagaaat gttgccctat ttgtcttctc caatgtatgg tatgttattt
     3421 tattttatta ttttatttta ttttatttta ttttatcgag ggggggtacg atacctgcca
     3481 tttaagaaaa tgaatagaaa attttaaaac ccgagaaatg gggaaaaaaa aatcagtgca
     3541 caagaattgg gctggttagg cccagcacca cactgaagtg ggctcagtgg tttttggagt
     3601 gaagaagcct tactccctgc acattccctc atgctcccac acaagtccag caatggaaat
     3661 gcttgggttc ctcttgcttt gtcaggggac tcaggagtcg accaagggaa accatttggc
     3721 cccgtgagga atgggcattg tcagtatccg tcctgaacgg ggcctagtca ggaagcggtc
     3781 tagaagtgta cggtcacggt cgcctcatga aagtgtgtag caggtggctc tcaggaaaaa
     3841 taccaagtct ggatcatcca tgtggcagct ttgcataggg agaggatagc tccgaactgg
     3901 aactgaactg ccttctctgc acgcttgacc aaagcagtga tgagggcggc cagtacctgc
     3961 ggtgtgcgtg gtaggtttaa agaaaaggga atgttttctg ctgagtgttt cctttgtcct
     4021 tgggctgctc gagctggaca gtaggtaacc actgttttca aggaccagcc caatttctct
     4081 ggcttggttc ggagttcgtt tcatccctag ctgtgagtgc cttttggtct ggaaagttgg
     4141 cttgtctcat aatacccaca gctaggacat tctctctgta attatgaatt gtccttgttt
     4201 tacattaaaa gagaatgtct ttgatcacta gagtctgtcg gtgttggatt atttccactg
     4261 tgagattctt aaaacttttt tgcttcataa taataaaaca actcatgtta gagacccttt
     4321 caacatgaaa ggtttgtagt tgagacatta catatatttt attgtttata ataaaaatca
     4381 tctatacaaa agaagtcctg ggtgttaata ttttgcacaa gatctgtttt ccatgatgtg
     4441 ttgacatcta caatttcact aactgttgac gttattttct attgagattc tggagcctag
     4501 ggagctatgt gttctttttg ttcatttcgt tcttacttcc ctgaagcaag agactatatg
     4561 gccttcagtg caaagacttc agaccaattc tttgtattac acttggttgc ctcttggcta
     4621 tataacttct gagtgcaaat cattgaacac tttaacgaag tattgtagag aataaatcat
     4681 aatggataaa aa
//
