LOCUS       NM_001080407            2946 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens galactosidase beta 1 like 3 (GLB1L3), mRNA.
ACCESSION   NM_001080407 XM_001131560
VERSION     NM_001080407.3
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 2946)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   2  (bases 1 to 2946)
  AUTHORS   Le Carre,J., Schorderet,D.F. and Cottet,S.
  TITLE     Altered expression of beta-galactosidase-1-like protein 3 (Glb1l3)
            in the retinal pigment epithelium (RPE)-specific 65-kDa protein
            knock-out mouse model of Leber's congenital amaurosis
  JOURNAL   Mol Vis 17, 1287-1297 (2011)
   PUBMED   21633714
REFERENCE   3  (bases 1 to 2946)
  AUTHORS   Taylor,T.D., Noguchi,H., Totoki,Y., Toyoda,A., Kuroki,Y., Dewar,K.,
            Lloyd,C., Itoh,T., Takeda,T., Kim,D.W., She,X., Barlow,K.F.,
            Bloom,T., Bruford,E., Chang,J.L., Cuomo,C.A., Eichler,E.,
            FitzGerald,M.G., Jaffe,D.B., LaButti,K., Nicol,R., Park,H.S.,
            Seaman,C., Sougnez,C., Yang,X., Zimmer,A.R., Zody,M.C.,
            Birren,B.W., Nusbaum,C., Fujiyama,A., Hattori,M., Rogers,J.,
            Lander,E.S. and Sakaki,Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP000859.4, BC011001.2, CX760372.1, AK074712.1 and BC040605.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001080407.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803615.227586.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596, SAMEA2153427
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000431683.7/ ENSP00000396615.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AP000859.4         51735-51736
            3-133               BC011001.2         1-131
            134-134             AP000859.4         51868-51868
            135-849             BC011001.2         133-847
            850-850             AP000859.4         57437-57437
            851-1052            BC011001.2         849-1050
            1053-1622           CX760372.1         13-582
            1623-1781           AK074712.1         327-485
            1782-1782           AP000859.4         87837-87837
            1783-2158           AK074712.1         487-862
            2159-2159           AP000859.4         94004-94004
            2160-2354           AK074712.1         864-1058
            2355-2945           AK074712.1         1060-1650
            2946-2946           BC040605.1         2576-2576
FEATURES             Location/Qualifiers
     source          1..2946
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q25"
     gene            1..2946
                     /gene="GLB1L3"
                     /note="galactosidase beta 1 like 3"
                     /db_xref="GeneID:112937"
                     /db_xref="HGNC:HGNC:25147"
     exon            1..385
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     CDS             363..2324
                     /gene="GLB1L3"
                     /codon_start=1
                     /product="beta-galactosidase-1-like protein 3"
                     /protein_id="NP_001073876.2"
                     /db_xref="CCDS:CCDS44780.1"
                     /db_xref="GeneID:112937"
                     /db_xref="HGNC:HGNC:25147"
                     /translation="MKSPPLLSPCLSWKRMAGIFFLPFISSGFAPRFKQEENFMLGRA
                     HPSQPRFNWSHLTPLELKNRSVGLGTESTGRGKPHFTLEGHKFLIFGGSIHYFRVPRE
                     YWRDRLLKLKACGFNTVTTYVPWNLHEPERGKFDFSGNLDLEAFVLMAAEIGLWVILR
                     PGRYICSEMDLGGLPSWLLQDPRLLLRTTNKSFIEAVEKYFDHLIPRVIPLQYRQAGP
                     VIAVQVENEYGSFNKDKTYMPYLHKALLRRGIVELLLTSDGEKHVLSGHTKGVLAAIN
                     LQKLHQDTFNQLHKVQRDKPLLIMEYWVGWFDRWGDKHHVKDAKEVEHAVSEFIKYEI
                     SFNVYMFHGGTNFGFMNGATYFGKHSGIVTSYDYDAVLTEAGDYTEKYLKLQKLFQSV
                     SATPLPRVPKLPPKAVYPPVRPSLYLPLWDALSYLNEPVRSRQPVNMENLPINNGSGQ
                     SYGLVLYEKSICSGGRLRAHAHDVAQVFLDETMIGILNENNKDLHIPELRDCRYLRIL
                     VENQGRVNFSWQIQNEQKGITGSVSINNSSLEGFTIYSLEMKMSFFERLRSATWKPVP
                     DSHQGPAFYCGTLKAGPSPKDTFLSLLNWNYGFVFINGRNLGRYWNIGPQKTLYLPGV
                     WLHPEDNEVILFEKMMSGSDIKSTDKPTL"
     exon            386..511
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            512..724
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            725..793
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            794..889
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            890..998
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1091
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1173
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1238
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1323
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1461
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1542
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1649
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1790
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1791..1862
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..1941
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            1942..2029
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            2030..2141
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            2142..2258
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     exon            2259..2946
                     /gene="GLB1L3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2930..2935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLB1L3"
                     /note="hexamer: AATAAA"
     polyA_site      2946
                     /gene="GLB1L3"
                     /note="major polyA site"
ORIGIN      
        1 ctccctgtgc cagccggctg tcgacccagg ttaggaagcc cgaggtcggg gcgttacccc
       61 aagggccctc ccgcttcccc tccgagggca gagaggcgtc cgcgcccgga cgcactgcgg
      121 gaacacctgg agcgccggcg gagctcggct gtccccgcgg gagggagccc gacgcgcatc
      181 cttgggaccc ggacccggcg cccgcgcctc gggacggatt tctgcctcgg ctgcaggcgc
      241 agcgcgcaga cctgagcctg ccccgcggaa ccggggctcg agtcccggcc cgagcgcggc
      301 gtcggggcca gcggagaggg gcggaagccg caagggaccc tcggcgcctc ggcctggccg
      361 cgatgaagtc cccgcccctc ctcagcccgt gtctctcctg gaagagaatg gcgggcatct
      421 ttttcctgcc atttatctca tcaggttttg ctcctcggtt taagcaggaa gagaacttca
      481 tgcttggaag agcgcatccg tcccagccta ggtttaattg gtctcatctg acccctctgg
      541 agctgaagaa tcgatctgtg ggacttggaa ctgaaagcac aggtcggggt aagccccact
      601 tcacactgga gggccacaag ttcctgatct tcgggggctc catccactat ttccgggtgc
      661 ccagggagta ctggagggac cgcctgctga agctgaaggc ctgtggcttc aatactgtca
      721 ccacctatgt tccgtggaac ctgcatgagc cagaaagagg caaatttgac ttctctggga
      781 acctggacct ggaggccttc gtcctgatgg ccgcagagat cgggctgtgg gtgattctgc
      841 gtccaggccg ctacatctgc agtgagatgg acctcggggg cttgcccagc tggctcctgc
      901 aagacccccg gttactgttg aggacaacca acaagagctt cattgaagca gttgagaagt
      961 attttgacca cctgattccc agagtgattc ctctccagta ccgccaggca ggccctgtca
     1021 tcgcggtgca agtggagaat gagtatggct cattcaataa ggataaaaca tacatgccgt
     1081 atctccacaa ggccctgctg agaagaggga ttgtggagct tctcttgacc tctgatggtg
     1141 agaaacatgt gctgagtggc cacaccaaag gagtgttggc cgccatcaat ttgcaaaaac
     1201 ttcaccagga tactttcaat cagcttcata aagtccagag agataagccc cttctgatta
     1261 tggaatactg ggtcggctgg ttcgacagat ggggagataa gcaccatgtt aaagatgcaa
     1321 aggaggttga acatgctgtg tctgaattca tcaaatatga gatctccttc aatgtatata
     1381 tgttccatgg tggaaccaac tttggtttca tgaacggggc cacatatttc gggaagcact
     1441 cgggcattgt caccagctat gactatgatg cagtgctcac ggaggctgga gattacacag
     1501 aaaaatatct gaagcttcaa aaactctttc aatctgtctc agcaactccc ctgccccgag
     1561 tacccaaact tcctcccaag gctgtgtatc cccccgtgag accgtcgctg tacctcccgc
     1621 tgtgggacgc cctatcctac ttaaatgagc cagtcaggtc gcgtcagccc gtcaacatgg
     1681 agaaccttcc cataaacaat gggagcggcc agtcctacgg gcttgtcctg tatgagaagt
     1741 ccatctgctc cggaggccgc ctccgtgccc acgctcatga cgtggcacag gtgtttttgg
     1801 atgagacaat gatagggatt ctgaatgaga ataataagga cctgcacatt cctgaactca
     1861 gggactgccg atacctgagg atcctggtgg agaatcaagg acgagtcaat ttttcatggc
     1921 aaatacagaa tgagcagaaa ggaataactg gatctgtcag catcaataac tcttccctgg
     1981 agggctttac catctattcc ctggagatga aaatgagctt ctttgagagg ctccgctctg
     2041 ccacctggaa gcctgtccca gacagccacc agggcccggc cttctactgt gggaccttga
     2101 aggctggccc ttctcccaag gacaccttcc tgagcctgct gaactggaat tatggatttg
     2161 tgttcatcaa tggacgtaac cttgggcgat attggaatat tgggcctcag aaaacactgt
     2221 accttcctgg agtttggctt catccagaag acaatgaggt catcttgttt gagaagatga
     2281 tgagtggctc agatatcaaa tctacagaca agcccacgct gtaaaactgt gtctgaacat
     2341 tttttttttt ttttgagatg gagtctcact ttgtcgccca ggctggagtg cagtggcaca
     2401 atctctgctc actgcaagct cagcctctcg ggttcacgcc attctcctgc ctcagcctcc
     2461 ccagcagctg ggactacagg tgcacgccac cacgcctggc taattttttg tatttttagt
     2521 agagatgggg tttcaccaag ttagccagga tggtcccaat ctcctgacct tgtgatctgc
     2581 tctcctcagc ctcccaaagt actgggatta caggcgtgag ccaccactcc cggccgtgaa
     2641 catatttttt gggttgctgg agttcatcta taagtcattt ttgaggaata agatttatgt
     2701 taagactatc aaacacagtg ttgcctacaa tagcaaaaat gtgaaaataa caacaacaac
     2761 aaaacagcag aggaattgtt atgtattttg tagtctatct atatgatgcc tatttttagg
     2821 ctttaaaaag tcttcaaaat ctttaatgac tgatttatct agttaaatgc ttaatcctta
     2881 gcaggctctt attctttaat taaacgtgcc tttgagtaga tgtgaataaa ataaaaacaa
     2941 gtttca
//
