LOCUS       NM_001113482            2640 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens mannosidase endo-alpha like (MANEAL), transcript
            variant 3, mRNA.
ACCESSION   NM_001113482
VERSION     NM_001113482.2
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 2640)
  AUTHORS   Herebian,D., Alhaddad,B., Seibt,A., Schwarzmayr,T., Danhauser,K.,
            Klee,D., Harmsen,S., Meitinger,T., Strom,T.M., Schulz,A.,
            Mayatepek,E., Haack,T.B. and Distelmaier,F.
  TITLE     Coexisting variants in OSTM1 and MANEAL cause a complex
            neurodegenerative disorder with NBIA-like brain abnormalities
  JOURNAL   Eur J Hum Genet 25 (9), 1092-1095 (2017)
   PUBMED   28612835
  REMARK    GeneRIF: Loss-of-function variant in MANEAL, coexisting with OSTM1
            mutation was identified in a patient with neurological disorder
            with brain iron accumulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929472.21, BC077730.1 and BC063587.1.
            
            On Aug 11, 2020 this sequence version replaced NM_001113482.1.
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longest isoform (3).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC063587.1, SRR14038192.2626757.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373045.11/ ENSP00000362136.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-255               AL929472.21        22573-22827
            256-798             BC077730.1         1-543
            799-2640            BC063587.1         1-1842
FEATURES             Location/Qualifiers
     source          1..2640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..2640
                     /gene="MANEAL"
                     /note="mannosidase endo-alpha like"
                     /db_xref="GeneID:149175"
                     /db_xref="HGNC:HGNC:26452"
                     /db_xref="MIM:620919"
     exon            1..886
                     /gene="MANEAL"
                     /inference="alignment:Splign:2.1.0"
     CDS             337..1710
                     /gene="MANEAL"
                     /EC_number="3.2.1.130"
                     /note="isoform 3 is encoded by transcript variant 3;
                     glycoprotein endo-alpha-1,2-mannosidase-like protein"
                     /codon_start=1
                     /product="glycoprotein endo-alpha-1,2-mannosidase-like
                     protein isoform 3"
                     /protein_id="NP_001106954.1"
                     /db_xref="CCDS:CCDS44110.1"
                     /db_xref="GeneID:149175"
                     /db_xref="HGNC:HGNC:26452"
                     /db_xref="MIM:620919"
                     /translation="MARRRRRACIALFLVLLFAFGTLMGLRTLKAPDGLPALGPGLEL
                     APFERRPEGAPAPAARAPAAPAAPPPPPPPPRTADPGGSPGPAPAEAEPAPVQSLRVY
                     SDLHAFYYSWYGSPRREGHYIHWDHVMVPHWDPKISASYPRGRHSPPDDLGSSFYPEL
                     GPYSSRDPEVLREHMTQLKEAAIGVLVLSWYPPGMADDNGEPSDDLVPAILDTAHQYS
                     IQVAFHIQPYKGRDDITVHDNIKYIIDTYGSHGAFYRYKNSMGKSLPLFYIYDSYLTS
                     PEAWAHLLTPNGPHSIRNTPYDGVFIALLVEEGHTHDILAAGFDGMYTYFASNGFSFG
                     SSHQNWKAVKNFCDANNLMFIPSVGPGYIDTSIRPWNNHNTRNRVNGKYYETALQAAL
                     TVRPEIVSITSFNEWHEGTQIEKAIPKKTPTRLYLDYLPHQPSLYLELTRRWAEHFIK
                     EKEQWLM"
     exon            887..996
                     /gene="MANEAL"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1073
                     /gene="MANEAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..2640
                     /gene="MANEAL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2616..2621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MANEAL"
                     /note="hexamer: ATTAAA"
     polyA_site      2640
                     /gene="MANEAL"
                     /note="major polyA site"
ORIGIN      
        1 aggcgccacc acctgccgcc caggcagcca ggcgactctt ctttcgcggg tcacgcggcc
       61 tgactcaggc ccctgctcct gtggccccga aactcgccgt tcgctgggcc ttgcgttgca
      121 ctcggcgtgc agttccccct cggctcgcgg ccacttggtc cgcgccgcct gcgtcctgtg
      181 tgccgagccc gcccgcactg cggggacagg ccgggcgccg cccacgccgc gctctgccgg
      241 gcgcacagtc tgcctgggaa gcgcgcggcc gggcgggcgg ccatggcgcg gcacgctggg
      301 aggtagcgcg gcggctgcag gagcgcacag tcggccatgg cccggcggcg gcgccgcgcc
      361 tgcatcgctc tgttcctggt gctgctcttc gccttcggca ccctcatggg tctgcgcacg
      421 ctcaaggctc cggacggact cccggcgctg ggcccgggcc tggagctggc gccctttgag
      481 cgacgcccag agggggcccc cgcgcccgct gccagggccc cggcagcccc tgccgcgccg
      541 cccccgccgc cgccgccgcc ccgcaccgcg gaccctggcg gctcccctgg gccggcaccc
      601 gcggaggccg agcccgcccc cgtgcagagc ctgcgcgtct actcggacct gcacgccttc
      661 tactactcgt ggtacgggag cccgcggcgc gagggccact acattcactg ggaccacgtc
      721 atggtgccgc actgggaccc caagatctcg gccagctacc cccgcggccg ccacagcccc
      781 ccagacgact tgggctccag cttctacccg gagctggggc cctacagctc ccgggacccc
      841 gaagtgctgc gggagcatat gacccagctc aaggaagccg ccatcggcgt cctggtcctg
      901 tcctggtacc cacctggcat ggctgatgat aacggggagc cctcagatga cctggtgccc
      961 gccattctgg acaccgccca tcagtacagc atccaggtgg ccttccacat ccaaccctac
     1021 aagggccggg atgacatcac tgtacatgac aacatcaagt acatcattga cacgtatggc
     1081 tcccatggtg cattttaccg ctataagaac agcatgggca agagcctccc actcttttat
     1141 atctacgact catacctgac gtcccctgag gcctgggccc acctcctgac accaaacggg
     1201 ccccattcga tccgcaacac gccctacgat ggggtcttca tagcgctgct ggtggaggag
     1261 ggccacaccc acgatatcct ggccgccgga tttgacggca tgtacaccta ctttgcctcc
     1321 aatggtttct cctttggttc ttcccatcag aactggaaag ctgtgaagaa cttttgtgat
     1381 gccaacaacc tcatgttcat ccccagtgtg gggcctggct acatagacac cagcattcgg
     1441 ccctggaaca accacaatac gcgcaacagg gtcaatggca agtactatga gacggccctg
     1501 caggcggccc tgacagtgag gcccgagatc gtttccatta cctccttcaa tgagtggcac
     1561 gagggcaccc agattgagaa ggccattccc aagaagacac ccacccgcct gtatttggac
     1621 tacctgcctc accagcccag cctgtacctg gagctgacac gccgctgggc ggagcacttc
     1681 atcaaagaga aggagcagtg gctcatgtga ggggcctgta aatgggcgtg aggtgctgat
     1741 gtccttgcct tgctggaaga tgtcaccatg tggggttcag ctgaggttgt agccactcac
     1801 tcgttcccag gtcagaggtc agcagatggg tgtttctggg tgggccgtca ggcatgggcc
     1861 tgtgcaacac agagcccgtt cctcaggcga gtggtgctga ggtgctctgt ggtgatggga
     1921 acggcagagg ctggcaggtg actgaactta gcccagggca gctccacatc ctgggaacac
     1981 tttcatgtaa ccccttctag ttttgaactc tgcagcaggc tggtgctgtg tagtggccac
     2041 ccagtcacca cccttggaag ggtgtcaggg tctgggctcg catgcaccct gctcccttct
     2101 gccagcctgc atcctctcct caggcctcct tcccacatca tctgtcttct ctaagttagg
     2161 gaaccatatt tgagactttc aaaaagggaa cttctaggtt taagctcctc ccagtagatt
     2221 cctgaaccca attatcagga aatcatcctg agcactcaca ggttcattta acactcactc
     2281 atcaagcacc ttcctatgtg ctaggtgctg gggaaaactt gaccaaggaa gagttcctgt
     2341 cctgaagctt ccaggaccca gctttccttt tctggtgtgg ccttgtagct agtgcctggg
     2401 cacaggtgtt tttctttttg cagttttacc tagtgctggg agttcagttc tttttcctct
     2461 agaaaaatac ctctgtgctc cagagcctaa tttttcccag atgcatattt agctctaggg
     2521 agaggactag gaggaaatcc ccctcccttt agctgcctga actgactgag gcccactcac
     2581 tagagccatg ttcagtgcta ctgtgattag tagtaattaa atatgaactg gtattctcaa
//
