LOCUS       NM_145292               1663 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens polypeptide N-acetylgalactosaminyltransferase like 5
            (GALNTL5), transcript variant 1, mRNA.
ACCESSION   NM_145292
VERSION     NM_145292.4
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 1663)
  AUTHORS   Hagiuda,J., Takasaki,N., Oya,M., Ishikawa,H. and Narimatsu,H.
  TITLE     Mutation of GALNTL5 gene identified in patients diagnosed with
            asthenozoospermia
  JOURNAL   Hum Fertil (Camb) 23 (4), 226-233 (2020)
   PUBMED   30628500
  REMARK    GeneRIF: Mutation of GALNTL5 gene identified in patients diagnosed
            with asthenozoospermia.
REFERENCE   2  (bases 1 to 1663)
  AUTHORS   Takasaki,N., Tachibana,K., Ogasawara,S., Matsuzaki,H., Hagiuda,J.,
            Ishikawa,H., Mochida,K., Inoue,K., Ogonuki,N., Ogura,A., Noce,T.,
            Ito,C., Toshimori,K. and Narimatsu,H.
  TITLE     A heterozygous mutation of GALNTL5 affects male infertility with
            impairment of sperm motility
  JOURNAL   Proc Natl Acad Sci U S A 111 (3), 1120-1125 (2014)
   PUBMED   24398516
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC022021.2, AC074257.5 and AW103179.1.
            
            On Nov 22, 2018 this sequence version replaced NM_145292.3.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022021.2, HM005684.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392800.7/ ENSP00000376548.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-572               BC022021.2         21-592
            573-573             AC074257.5         171838-171838
            574-1661            BC022021.2         594-1681
            1662-1663           AW103179.1         9-10                c
FEATURES             Location/Qualifiers
     source          1..1663
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..1663
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /note="polypeptide N-acetylgalactosaminyltransferase like
                     5"
                     /db_xref="GeneID:168391"
                     /db_xref="HGNC:HGNC:21725"
                     /db_xref="MIM:615133"
     exon            1..164
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            165..450
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     CDS             204..1535
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /note="putative polypeptide
                     N-acetylgalactosaminyltransferase-like protein 5;
                     galNAc-T15; pp-GaNTase 15; polypeptide GalNAc transferase
                     15; UDP-N-acetyl-alpha-D-galactosamine:polypeptide
                     N-acetylgalactosaminyltransferase-like 5; polypeptide
                     GalNAc transferase-like 5; protein-UDP
                     acetylgalactosaminyltransferase 15; UDP-GalNAc:polypeptide
                     N-acetylgalactosaminyltransferase 15; testis tissue
                     sperm-binding protein Li 61n"
                     /codon_start=1
                     /product="inactive polypeptide
                     N-acetylgalactosaminyltransferase-like protein 5"
                     /protein_id="NP_660335.2"
                     /db_xref="CCDS:CCDS5929.1"
                     /db_xref="GeneID:168391"
                     /db_xref="HGNC:HGNC:21725"
                     /db_xref="MIM:615133"
                     /translation="MRNAIIQGLFYGSLTFGIWTALLFIYLHHNHVSSWQKKSQEPLS
                     AWSPGKKVHQQIIYGSEQIPKPHVIVKRTDEDKAKSMLGTDFNHTNPELHKELLKYGF
                     NVIISRSLGIEREVPDTRSKMCLQKHYPARLPTASIVICFYNEECNALFQTMSSVTNL
                     TPHYFLEEIILVDDMSKVDDLKEKLDYHLETFRGKVKIIRNKKREGLIRARLIGASHA
                     SGDVLVFLDSHCEVNRVWLEPLLHAIAKDPKMVVCPLIDVIDDRTLEYKPSPLVRGTF
                     DWNLQFKWDNVFSYEMDGPEGSTKPIRSPAMSGGIFAIRRHYFNEIGQYDKDMDFWGR
                     ENLELSLRIWMCGGQLFIIPCSRVGHISKKQTGKPSTIISAMTHNYLRLVHVWLDEYK
                     EQFFLRKPGLKYVTYGNIRERVELRKRLGCKSFQWYLDNVFPELEASVNSL"
     exon            451..571
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            572..738
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            739..861
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            862..1111
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1229
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1379
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1663
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1559..1564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /note="hexamer: AATAAA"
     polyA_site      1576
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /note="major polyA site"
     regulatory      1644..1649
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /note="hexamer: ATTAAA"
     polyA_site      1663
                     /gene="GALNTL5"
                     /gene_synonym="GalNAc-T5L; GALNACT19; GALNT15"
                     /note="major polyA site"
ORIGIN      
        1 agcacaacca ggtatctgct tggaacccag ccaccataaa gcctgctagc taaaaaaaat
       61 tttacatctc tcagttcatt cggcacagac ccctgcctca ttcagctgtg actctgcttg
      121 gaaaattcat cagttacaaa gcagccaatg caattatctc aagggaaatt gaaaaatgga
      181 cctttgaaaa tgctagattt acaatgagaa atgccataat tcaaggttta ttctatgggt
      241 ccttgacatt tgggatctgg acagctctgt tattcatata tttgcaccat aatcatgtga
      301 gcagctggca gaagaaaagc caggagcctc tgtcagcttg gtcccctgga aaaaaagtgc
      361 atcagcaaat tatctatggc tcagagcaaa taccaaaacc tcatgtaata gtcaaaagga
      421 ctgatgaaga taaagcaaag tctatgttag gtacagattt taaccataca aacccagaac
      481 ttcataaaga acttttaaaa tatggattta atgtgattat cagtagaagc ttgggcatcg
      541 aaagagaagt gccagatacc aggagtaaaa tgtgtcttca aaaacattac ccagcccgcc
      601 tcccgactgc cagcattgtc atttgcttct ataatgaaga atgtaatgcc ttgtttcaga
      661 ccatgtccag tgtcacgaac ctcacgccac actattttct tgaagaaatt attttggtag
      721 atgacatgag caaagttgat gatttgaaag aaaaactaga ctatcacctg gaaacttttc
      781 ggggaaaggt taaaataata agaaacaaaa agagagaggg gctgattcga gcaaggctga
      841 ttggagcttc tcatgcttca ggggatgttc tggtgttcct ggacagccac tgtgaggtga
      901 acagagtatg gctggagccc ctgctgcatg ccattgccaa ggaccccaaa atggtggtgt
      961 gccccctgat agatgtcatt gatgatagaa ctctggagta taagccctct cctcttgtaa
     1021 ggggaacttt tgattggaac ctacaattta aatgggataa tgttttctct tatgagatgg
     1081 atggaccaga aggatctact aaaccaatcc ggtcacctgc aatgtctgga ggaatttttg
     1141 ctatacgtcg gcattatttt aatgaaattg gacagtatga caaggatatg gatttttggg
     1201 gaagagaaaa tttggaactt tcactaagga tctggatgtg tggaggccaa ctctttataa
     1261 tcccctgctc tcgagtagga catatcagta agaaacaaac tggaaaacct tctacaatca
     1321 tcagtgctat gacacataac tacctaagac tggtgcacgt ttggctggat gaatataagg
     1381 agcagttttt tcttcgaaag cctggtctga aatatgtcac ctacggaaat attcgcgagc
     1441 gtgttgagtt aaggaaacga ctgggttgca agtcatttca gtggtatttg gataatgtct
     1501 tcccagagtt ggaggcatct gtgaacagcc tgtgaaagga aaacaaatca ctttcattaa
     1561 taaagggtta aaagtctcct agtcattcaa catagtgtca caagagtgta agtttggaac
     1621 atcgtggaat tacgtgaaat gcaattaaaa aaatatgacc aga
//
