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2020-10-24 06:31:59, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001082619            1263 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant
            2, mRNA.
ACCESSION   NM_001082619
VERSION     NM_001082619.1  GI:130499471
KEYWORDS    RefSeq.
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 1263)
  AUTHORS   Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
            Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
            McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
            Dunham,I., Hill,D.E. and Vidal,M.
  TITLE     hORFeome v3.1: a resource of human open reading frames representing
            over 10,000 human genes
  JOURNAL   Genomics 89 (3), 307-315 (2007)
   PUBMED   17207965
REFERENCE   2  (bases 1 to 1263)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem. Biophys. Res. Commun. 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB159963.1, AP000907.6 and CA312666.1.
            
            Transcript Variant: This variant (2) uses an alternate 3'-terminal
            exon, compared to variant 1, which results in a protein (isoform 2)
            with a shorter and distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns ERS025084,
                              ERS025085 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-544               CB159963.1         1-544
            545-710             AP000907.6         172715-172880       c
            711-1263            CA312666.1         1-553               c
FEATURES             Location/Qualifiers
     source          1..1263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..1263
                     /gene="PIH1D2"
                     /note="PIH1 domain containing 2"
                     /db_xref="GeneID:120379"
                     /db_xref="HGNC:25210"
     exon            1..192
                     /gene="PIH1D2"
                     /inference="alignment:Splign:1.39.8"
     variation       127
                     /gene="PIH1D2"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4091707"
     exon            193..400
                     /gene="PIH1D2"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    218..220
                     /gene="PIH1D2"
                     /note="upstream in-frame stop codon"
     CDS             224..1090
                     /gene="PIH1D2"
                     /note="isoform 2 is encoded by transcript variant 2; PIH1
                     domain-containing protein 2"
                     /codon_start=1
                     /product="PIH1 domain-containing protein 2 isoform 2"
                     /protein_id="NP_001076088.1"
                     /db_xref="GI:130499472"
                     /db_xref="CCDS:CCDS44730.1"
                     /db_xref="GeneID:120379"
                     /db_xref="HGNC:25210"
                     /translation="
METSSKGLLTQVTQFWNLLDDLAQSDPEGYEKFIQQQLKEGKQLCAAPEPQLCLQTRILKPKEKILFINLCQWTRIPAPQSTTHPVPLTVGKPEDTTEISDAYTVIDVAYNPDVLHAAEKDQVKKNQLIQMAMKCIEEKFQFTLSHSYHITKFRIKGSIQRMKQNLMGIQTDSIDLREKMRRELTLGQIRSSTMSNPDHFPQLLLPKDQVSGKAVCLIEEISSTEIQVEMKMPAYELKIVHDHSEKPLKIELKVELPGINSVSLCDLSVSEGTTEPQALAKDELSLKF
"
     misc_feature    278..1036
                     /gene="PIH1D2"
                     /note="pre-RNA processing PIH1/Nop17; Region: PIH1;
                     pfam08190"
                     /db_xref="CDD:203872"
     exon            401..524
                     /gene="PIH1D2"
                     /inference="alignment:Splign:1.39.8"
     exon            525..770
                     /gene="PIH1D2"
                     /inference="alignment:Splign:1.39.8"
     exon            771..1036
                     /gene="PIH1D2"
                     /inference="alignment:Splign:1.39.8"
     exon            1037..1248
                     /gene="PIH1D2"
                     /inference="alignment:Splign:1.39.8"
ORIGIN      
cgggcgctttcctggaagagaagtgggtcaggcccaactgaaaagcaagcctggcaccagaagggggacattccggaactagatatgaagagacttttctccctgaagttccccggacccaattagatgttgtacccaggctggttaccctggtaacaggcgtcgcggtttgtcaaggaactgagagaagaggcttaagaaaattattcaccactcataagtcatggagacatcctcaaaaggtctgcttacccaagttactcagttttggaacctcctagatgatctagctcagagtgaccctgagggctatgagaagtttattcagcagcagctgaaagaagggaaacagctctgtgctgccccagaaccacagctttgtctacagaccaggattctgaaaccaaaagaaaaaatactttttatcaacctgtgtcagtggacaaggatcccagctccccaatcaaccactcatccagtacctctaactgttggcaaaccagaagatacaactgagatatcagatgcttacacagtcattgatgttgcctacaatcctgatgttcttcatgcagcagaaaaggaccaagtgaaaaaaaatcagttaattcagatggccatgaaatgcattgaggagaaattccagttcaccctctcacactcttaccatattaccaaatttagaataaaaggaagcattcaaagaatgaaacaaaatctgatgggaatccaaactgattccatagatttaagagaaaaaatgagaagggaactaactcttggacagatacgaagcagtactatgagcaatccagatcactttcctcaactgttactgccaaaagaccaagtttcaggcaaagcagtgtgtctgatagaagagatttccagtactgaaatccaggtggagatgaagatgccagcctatgaactaaaaattgtgcatgatcacagtgagaaacctctgaaaattgagttgaaagttgaattacctggtattaattctgtctctctctgtgaccttagtgtttctgagggaacaacagaaccacaagcattagcgaaagatgaattatctttgaagttttgaatgtttgaaccagatttggatcatattgatgatggtcccttgtgataagcttgtttcttttggataatcttcaacctaaaattactaattactgaaaaatcaaattaatgtattgttttcataataatacagcaaggtaaaagtctgtgtggaatataaaaaaaaaaaaaaaa
//

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