LOCUS       NM_032342               4225 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens post-GPI attachment to proteins GalNAc transferase 4
            (PGAP4), transcript variant 1, mRNA.
ACCESSION   NM_032342
VERSION     NM_032342.3
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 4225)
  AUTHORS   Hirata,T., Mishra,S.K., Nakamura,S., Saito,K., Motooka,D.,
            Takada,Y., Kanzawa,N., Murakami,Y., Maeda,Y., Fujita,M.,
            Yamaguchi,Y. and Kinoshita,T.
  TITLE     Identification of a Golgi GPI-N-acetylgalactosamine transferase
            with tandem transmembrane regions in the catalytic domain
  JOURNAL   Nat Commun 9 (1), 405 (2018)
   PUBMED   29374258
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4225)
  AUTHORS   Ritchie,M.D., Verma,S.S., Hall,M.A., Goodloe,R.J., Berg,R.L.,
            Carrell,D.S., Carlson,C.S., Chen,L., Crosslin,D.R., Denny,J.C.,
            Jarvik,G., Li,R., Linneman,J.G., Pathak,J., Peissig,P.,
            Rasmussen,L.V., Ramirez,A.H., Wang,X., Wilke,R.A., Wolf,W.A.,
            Torstenson,E.S., Turner,S.D. and McCarty,C.A.
  TITLE     Electronic medical records and genomics (eMERGE) network
            exploration in cataract: several new potential susceptibility loci
  JOURNAL   Mol Vis 20, 1281-1295 (2014)
   PUBMED   25352737
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC006115.1, BC033550.1, AL353621.19 and AJ420439.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032342.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.275616.1,
                                           SRR1803614.154816.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374848.8/ ENSP00000363981.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-355               BC006115.1         21-375
            356-2067            BC033550.1         1202-2913
            2068-3304           AL353621.19        97800-99036         c
            3305-4225           AJ420439.1         9-929
FEATURES             Location/Qualifiers
     source          1..4225
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..4225
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /note="post-GPI attachment to proteins GalNAc transferase
                     4"
                     /db_xref="GeneID:84302"
                     /db_xref="HGNC:HGNC:28180"
                     /db_xref="MIM:620264"
     exon            1..225
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /inference="alignment:Splign:2.1.0"
     exon            226..4225
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /inference="alignment:Splign:2.1.0"
     CDS             303..1514
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /note="transmembrane protein C9orf125; transmembrane
                     protein 246"
                     /codon_start=1
                     /product="post-GPI attachment to proteins factor 4"
                     /protein_id="NP_115718.1"
                     /db_xref="CCDS:CCDS6757.1"
                     /db_xref="GeneID:84302"
                     /db_xref="HGNC:HGNC:28180"
                     /db_xref="MIM:620264"
                     /translation="MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACH
                     RLLHSYFYLRHWHLNQMSQEFLQQSLKEGEAALHYFEELPSANGSVPIVWQATPRPWL
                     VITIITVDRQPGFHYVLQVVSQFHRLLQQCGPQCEGHQLFLCNVERSVSHFDAKLLSK
                     YVPVANRYEGTEDDYGDDPSTNSFEKEKQDYVYCLESSLQTYNPDYVLMVEDDAVPEE
                     QIFPVLEHLLRARFSEPHLRDALYLKLYHPERLQHYINPEPMRILEWVGVGMLLGPLL
                     TWIYMRFASRPGFSWPVMLFFSLYSMGLVELVGRHYFLELRRLSPSLYSVVPASQCCT
                     PAMLFPAPAARRTLTYLSQVYCHKGFGKDMALYSLLRAKGERAYVVEPNLVKHIGLFS
                     SLRYNFHPSLL"
     regulatory      2038..2043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /note="hexamer: GATAAA"
     polyA_site      2069
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /note="major polyA site"
     regulatory      4200..4205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /note="hexamer: AATAAA"
     polyA_site      4225
                     /gene="PGAP4"
                     /gene_synonym="C9orf125; TMEM246"
                     /note="major polyA site"
ORIGIN      
        1 ctctccgcag ctcgcgggtc acatggcccg cctgagcaag gggagccctg cgcctgagct
       61 gcgaggcggg aggaggtgag gctccggcgc acacccaaac cgcgctgcgc ccgctccttc
      121 cgggccccgg agatggcgcc tccaccggga tgagctagcc agcctgggca ataccagagg
      181 cggccctcgg cgcgcgcagg ggaccgagct ggtcgcccca accgggtttg atttctgatg
      241 actctggcct gagttccagg atggtttttt cttgggacca gacatgaaca aaagttgacc
      301 tcatgagcac ttcaacctct ccagctgcca tgctcctccg gaggctgcgg cgactctcct
      361 ggggcagcac tgctgtccag ctcttcatcc taacagtggt gacgtttggc ctgctggccc
      421 ccctggcctg tcaccgactt ctacactctt acttctatct gcgccattgg catctgaacc
      481 aaatgagcca agagttcctg cagcaaagct tgaaagaggg tgaggctgcc ctccactatt
      541 ttgaggagct tccctctgcc aatggctcag tgcccattgt ctggcaggcc accccccggc
      601 cctggctggt gatcaccatc atcactgtgg acaggcagcc tggcttccac tacgtcctgc
      661 aggttgtgtc ccagttccac cggcttcttc agcaatgtgg cccccagtgc gaggggcacc
      721 aactcttcct gtgcaacgtg gagcgtagtg tgagccattt tgatgccaag ttgctctcca
      781 agtatgtccc tgtggccaat cgctatgagg gcactgagga tgattatggt gatgaccctt
      841 cgaccaactc gtttgagaaa gagaagcagg actatgtcta ttgcctggag tcatccctgc
      901 agacctacaa cccagactac gtcctgatgg tagaagacga tgctgtacca gaagagcaga
      961 tcttcccagt cttggagcac cttctgcggg ctcgcttctc tgagccacat ctcagagatg
     1021 ccctttatct caagctgtat caccccgaga ggctccagca ctacatcaat ccagagccca
     1081 tgcggatcct ggaatgggtt ggtgtaggca tgttgctggg gcccttacta acctggatat
     1141 acatgaggtt tgccagccgc ccagggttta gctggcctgt aatgctcttc ttctccctgt
     1201 atagcatggg tctggtggag ctggtgggtc ggcactattt cctggaactg cggcggctga
     1261 gtccttccct gtacagtgtg gttcctgcct ctcagtgttg caccccagcc atgctcttcc
     1321 cggcacctgc ggcccgccgg accctcacct acctgtccca agtgtactgc cacaagggct
     1381 ttggcaagga catggcactg tactcgctgt tgagggccaa gggagagagg gcctatgtag
     1441 tggagccgaa cctcgtgaaa cacatcgggc tcttctccag tctccggtac aactttcatc
     1501 ccagtctcct ctagggtgcc aagagatgcc tttctgaagt tggccacttc ttgaagattc
     1561 aaatatttat ctctttattt agacatggtt gcctgcaggt atttcactgt ttactgttgt
     1621 tagagatata ggcactgggg cagctgagga acctcaatat gttaagagcc ttggctttgg
     1681 tagcctcctg gcaggagcag cagtttgcca caggtccgga cctctccctc cacacagcca
     1741 cactgcctca tgcagtctga cccacccagt gagggtgcat ttgaacactg attatattct
     1801 ccatttgttt ttaagctctg ctttgtgtta gagcttgtga ctgccaaaaa ttttgtgcac
     1861 agtgatatga ctgttttagg atcttaaggg tagaattttg tgaaaggtga gatcctttgg
     1921 aattgagttc tttctcattg ggtatgaaaa tggatgtatg tttagaatat atgcccaacg
     1981 aggcaggacc atgtggatag attccatttg tttccttgac ctgatgtaat aaaaactgat
     2041 aaaagccgtg cagtgcccgg catcttggag gcaggtgatc tggcttttct gttacctggg
     2101 attttctttt cctatatatc tgtagtgcac tgataattga tattgttagt gagaacttta
     2161 aggcacgaca agatctggaa gagcttgtga accatcaaag tcagattgct tatgttgagt
     2221 agtgatttaa cattgaacat ttctgtacta ctctgactct ttgaaaattg gacatttcag
     2281 aatgatacaa tataggggag ctctttacaa gtagcatatc atttttcctg actttcctgg
     2341 ctgactgctt accttcattt ctttttcttc taggtagcat gatgttatag aaaaaaaaaa
     2401 aaaaaaatca tggactgaag tcagaagacc tgacctttta tttcagatct ctgccatggc
     2461 ctaacgacgt gaccaccttg ggcaggtcat ataatcactc tgggtctcaa tttcttcacc
     2521 tgtaaaatga ggacagtaat acttacatgt taaagttgcc ttgaggatta aatggcagaa
     2581 tatatgtaaa acacctagca agtgcttagt ccatagaaga cgcttggcaa acttttctct
     2641 cctataataa acatatacaa ctcaagctta tttcggaaaa agatattggt gatgttgttt
     2701 aaagtatgag atagggcatg gagctgccac ctatgtacca gctattccag atgaccaagc
     2761 cctgctagaa taaagactga cttttcattg tgacctctga aggatgtgca gctcagcttt
     2821 cacctatccc cacgttcacc caagccaaaa agaagaattg ttcattcaaa ctggaaatga
     2881 tctccagctt ggaaatgaga ctcctcatga gcttattcta agatcagagt ctgaaaatta
     2941 ttttctcaaa agttacaaat aaatgtcttt taacagtact gtcagactag tgaccaacaa
     3001 gttactttat gaggatggat gatgatatta gagttcaagc aattgtccag tttgtttcga
     3061 tgccacagtt tgcttttaaa ttcccatagt gagcttccat cttgagaccc actcaacaca
     3121 gaaggattac ataaaggttg atcacccacg ctctacagat gaacaaattg agacccagag
     3181 atgctaaact gctctgcagg tcacaaacct gaacagcagc atagccaaaa tgggaacgga
     3241 gctcttctga cttcaagccc ctgcactttt ttcttaacca cattaatttt atgaatatct
     3301 atgtggtcaa agtctctttt gtaaaatctg agtataagct gaactagatc atgtctctgt
     3361 aagctaagat ggcagaaaca cattgtcatg ttagtttgga ggagcaaaca gatataagta
     3421 tgtgttgtaa tgttatagtg agctgttatg tatcccccag caatgtccaa agtgatcaga
     3481 gctactagat gacttattac aatgttcaga tcccactcct tcattcctcc tctctcagtg
     3541 acctgtctac ccccaagctt tagaactgag ctctctccaa cttagaactc attagagttt
     3601 gttgcattag tgattggatc tcctcatgaa agttttttga ccaatgacag tagagcccct
     3661 ttaagctagc caggcccaag atagggaagc actgctggtt tacatttctg ctctttctaa
     3721 ttcagttgtc tattgcatgc agacatcccc tgcccgactt ctccattatg gaaggctaag
     3781 gccatccttc cttgtccagt ttctctacct acacactaac atgccttttc cccatggagt
     3841 gaactctgcc agttgtcttt ggacattttc tgcagatgca ggctcagttc tgctcttttg
     3901 ttcccaccca cttctagatc ttcctccatt taatccctta ttcttataag gagtctaatt
     3961 tttgtgtatt gtccttgatt agggcagctg acagctttac accaaagctg aagtctctca
     4021 cttaatccta agcaaggggc tagggagaac taagatatcc ttcccatatc aagggatata
     4081 ggttactaga agggtggagg tctcttaaca ggctcactca cctttcagag tttaaattat
     4141 ggtcaggctt aagaagctct ctcttgtgac tgagtgtatt gcatagacat gtctgtgaaa
     4201 ataaaagcac ccattttgct aaggc
//
