LOCUS       NM_183373               1878 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens PX domain containing 1 (PXDC1), mRNA.
ACCESSION   NM_183373 XM_166341
VERSION     NM_183373.4
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 1878)
  AUTHORS   Mozaffari,S.V., Stein,M.M., Magnaye,K.M., Nicolae,D.L. and Ober,C.
  TITLE     Parent of origin gene expression in a founder population identifies
            two new candidate imprinted genes at known imprinted regions
  JOURNAL   PLoS One 13 (9), e0203906 (2018)
   PUBMED   30204804
  REMARK    GeneRIF: We used allele specific expression in lymphoblastoid cell
            lines from 306 Hutterites related in a single pedigree to provide
            formal evidence for parent of origin effects. Our approach
            identified two putative novel imprinted genes, PXDC1 and PWAR6,
            with asymmetrical parent of origin gene expression.
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA164068.1, AK289598.1, BC056908.1 and AK024828.1.
            
            On Nov 30, 2019 this sequence version replaced NM_183373.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC056908.1, AK024828.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380283.5/ ENSP00000369636.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                DA164068.1         173-257
            86-167              AK289598.1         86-167
            168-567             BC056908.1         157-556
            568-1878            AK024828.1         340-1650
FEATURES             Location/Qualifiers
     source          1..1878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..1878
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /note="PX domain containing 1"
                     /db_xref="GeneID:221749"
                     /db_xref="HGNC:HGNC:21361"
     exon            1..438
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /inference="alignment:Splign:2.1.0"
     CDS             183..878
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /note="PX domain-containing protein C6orf145"
                     /codon_start=1
                     /product="PX domain-containing protein 1"
                     /protein_id="NP_899229.2"
                     /db_xref="CCDS:CCDS4486.1"
                     /db_xref="GeneID:221749"
                     /db_xref="HGNC:HGNC:21361"
                     /translation="MASAVFEGTSLVNMFVRGCWVNGIRRLIVSRRGDEEEFFEIRTE
                     WSDRSVLYLHRSLADLGRLWQRLRDAFPEDRSELAQGPLRQGLVAIKEAHDIETRLNE
                     VEKLLKTIISMPCKYSRSEVVLTFFERSPLDQVLKNDNVHKIQPSFQSPVKISEIMRS
                     NGFCLANTETIVIDHSIPNGRDQQLGVDPTEHLFENGSEFPSELEDGDDPAAYVTNLS
                     YYHLVPFETDIWD"
     exon            439..530
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            531..648
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            649..760
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            761..1878
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1860..1865
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /note="hexamer: AATAAA"
     polyA_site      1878
                     /gene="PXDC1"
                     /gene_synonym="C6orf145"
                     /note="major polyA site"
ORIGIN      
        1 actcgccgcc gcgccgcccc gctgccccga acgcgggcca tacgcagcct ccttggagtg
       61 acgggccgac cccggacgac cccggccacg gacagacccg ggacgacccc ggccggggcg
      121 cgcctcctgc gggcgggcgg gcggcggggc tggggagccc ttggcggggg catgcgtgcg
      181 acatggcctc ggcggtgttt gagggcacgt cgctcgtgaa catgttcgtg cgcggctgct
      241 gggtgaacgg catccgcagg ctcatcgtca gccggcgcgg cgacgaagag gagttcttcg
      301 agatccgcac ggagtggtcg gaccgcagcg tgctctacct gcaccgcagc ctggcggacc
      361 tgggccgcct gtggcagcgc ctgcgcgacg cctttcccga ggaccggtcc gaactggcgc
      421 aggggccgct gcggcaagga ctggttgcca taaaggaagc ccacgacata gagaccaggc
      481 ttaatgaggt ggagaagctg ctgaagacga tcataagcat gccctgtaaa tattctagat
      541 cggaagttgt gctcaccttc ttcgaaagat ctcctctgga tcaggtgtta aaaaatgata
      601 atgtgcataa aattcaaccc agctttcaaa gtccagtcaa aatatcagaa atcatgaggt
      661 ccaatggatt ttgtttagca aataccgaaa caatagttat tgaccacagt ataccaaatg
      721 gaagagacca gcagctgggc gtggacccaa cagagcattt atttgagaat ggcagtgagt
      781 ttccctcaga gctggaggac ggggacgacc cagcagccta cgtcaccaac ctgtcatatt
      841 accacctggt ccccttcgag acagacattt gggactgaac ctctctatca ggcctccccc
      901 gcctcagctg ttcactgcca gctctgatgc tgtccactgt gctggccccc atggtcacag
      961 ctgctgcccc agctctggaa ctcccagacg tcccaggccc cactgacgcc aggaggcctg
     1021 ggtgtcctgc aagtggagca gcaggggctc ctagtgggcc aggctgaccg cagagtctcc
     1081 agcaagctga ggtcacagcc ggaggccaca gggcctgtgt tctgagggtc ttcactccct
     1141 gcttggtgcc cacagggctg cgcactgcca gggcagggac agttcctgtg gggctcgctc
     1201 tcactgctac tgcttcctgg gaggtgcatc cctcttggtg aagtggccta gtgcccccca
     1261 gccaccctga ctccccacca ttccctccca cggcaaacgc acaaaacgtc ttgagggaga
     1321 ttttgacaag tcacccattc caggtgccac aggcagggga tgtttagtaa tccaggattt
     1381 ctctgagaac tgggatatgt ggcctttttt tttttctttt tatcttttat ctggaaactg
     1441 ggtttgggtc aaccccagga gtatttgcag aaggcccagc acagtggggg gtattggctg
     1501 cagggcaggg aaggcattgc cgactagata accgtgtgag cttggactga gcgttggtgg
     1561 ttcttcccaa aggaaaggaa tttcttcccg gcctgccagg tctctgggcc ttcagcgcgg
     1621 gtcctggtgc tgcggccaca ccaccctggg gtgctcattg acagagctgc cataatgaac
     1681 ttgaaaggac gggaatcacg agggaagctg gggctcccct gcccacagga gaggatcccc
     1741 gttcttcaag cttctctgct cagtgtctac taacgaccga catttgctaa tgtaaataat
     1801 agtaaattat tgagaattct aattctttta cacagtctgt ttttaatcta ttttaattaa
     1861 ataaaatcta tgactcta
//
