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2019-03-23 03:31:51, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001002006            2898 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens 5'-nucleotidase, cytosolic IB (NT5C1B), transcript
            variant 1, mRNA.
ACCESSION   NM_001002006
VERSION     NM_001002006.2  GI:312283638
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 2898)
  AUTHORS   Gass,N., Ollila,H.M., Utge,S., Partonen,T., Kronholm,E.,
            Pirkola,S., Suhonen,J., Silander,K., Porkka-Heiskanen,T. and
            Paunio,T.
  TITLE     Contribution of adenosine related genes to the risk of depression
            with disturbed sleep
  JOURNAL   J Affect Disord 126 (1-2), 134-139 (2010)
   PUBMED   20392501
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 2898)
  AUTHORS   Cirulli,E.T., Kasperaviciute,D., Attix,D.K., Need,A.C., Ge,D.,
            Gibson,G. and Goldstein,D.B.
  TITLE     Common genetic variation and performance on standardized cognitive
            tests
  JOURNAL   Eur. J. Hum. Genet. 18 (7), 815-820 (2010)
   PUBMED   20125193
  REMARK    Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820]
REFERENCE   3  (bases 1 to 2898)
  AUTHORS   Sala-Newby,G.B. and Newby,A.C.
  TITLE     Cloning of a mouse cytosolic 5'-nucleotidase-I identifies a new
            gene related to human autoimmune infertility-related protein
  JOURNAL   Biochim. Biophys. Acta 1521 (1-3), 12-18 (2001)
   PUBMED   11690631
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB054653.1, AF417165.1, BC136387.1, AA774429.1 and AA974253.1.
            On Nov 20, 2010 this sequence version replaced gi:50593109.
            
            Summary: Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze
            production of adenosine, which regulates diverse physiologic
            processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied
            by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF417165.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025084, ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                DB054653.1         1-34
            35-628              AF417165.1         1-594
            629-1164            BC136387.1         402-937
            1165-2509           AF417165.1         1131-2475
            2510-2746           AA774429.1         127-363             c
            2747-2898           AA974253.1         1-152               c
FEATURES             Location/Qualifiers
     source          1..2898
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.2"
     gene            1..2898
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="5'-nucleotidase, cytosolic IB"
                     /db_xref="GeneID:93034"
                     /db_xref="HGNC:17818"
                     /db_xref="HPRD:11405"
                     /db_xref="MIM:610526"
     exon            1..142
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    8..10
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="upstream in-frame stop codon"
     CDS             113..1945
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /EC_number="3.1.3.5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytosolic 5'-nucleotidase 1B; autoimmune
                     infertility-related protein"
                     /codon_start=1
                     /product="cytosolic 5'-nucleotidase 1B isoform 1"
                     /protein_id="NP_001002006.1"
                     /db_xref="GI:50593110"
                     /db_xref="CCDS:CCDS33150.1"
                     /db_xref="GeneID:93034"
                     /db_xref="HGNC:17818"
                     /db_xref="HPRD:11405"
                     /db_xref="MIM:610526"
                     /translation="
MSQTSLKQKKNEPGMRSSKESLEAEKRKESDKTGVRLSNQMRRAVNPNHSLRCCPFQGHSSCRRCLCAAEGTALGPCHTIRIYIHMCLLWEQGQQITMMRGSQESSLRKTDSRGYLVRSQWSRISRSPSTKAPSIDEPRSRNTSAKLPSSSTSSRTPSTSPSLHDSSPPPLSGQPSLQPPASPQLPRSLDSRPPTPPEPDPGSRRSTKMQENPEAWAQGIVREIRQTRDSQPLEYSRTSPTEWKSSSQRRGIYPASTQLDRNSLSEQQQQQREDEDDYEAAYWASMRSFYEKNPSCSRPWPPKPKNAITIALSSCALFNMVDGRKIYEQEGLEKYMEYQLTNENVILTPGPAFRFVKALQYVNARLRDLYPDEQDLFDIVLMTNNHAQVGVRLINSVNHYGLLIDRFCLTGGKDPIGYLKAYLTNLYIAADSEKVQEAIQEGIASATMFDGAKDMAYCDTQLRVAFDGDAVLFSDESEHFTKEHGLDKFFQYDTLCESKPLAQGPLKGFLEDLGRLQKKFYAKNERLLCPIRTYLVTARSAASSGARVLKTLRRWGLEIDEALFLAGAPKSPILVKIRPHIFFDDHMFHIEGAQRLGSIAAYGFNKKFSS
"
     misc_feature    122..124
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1121..1897
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="5'-nucleotidase; Region: 5-nucleotidase; pfam06189"
                     /db_xref="CDD:148034"
     exon            143..232
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            233..412
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            413..550
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            551..1015
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1016..1183
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1184..1313
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1314..1436
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1437..1621
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1622..2870
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     variation       2249
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3747660"
     STS             2572..2734
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /standard_name="RH99272"
                     /db_xref="UniSTS:88382"
ORIGIN      
ataaatttgacattctaaatgcaaagctagactgagcaagggaagtgacaggaaatggagctggggagacaaaaatgtggataacaacaaaagaatttcaacaggtaaaaaaatgagtcaaacatctctcaaacagaaaaagaatgagcctggaatgaggtcctcaaaagagagtctagaagcagaaaaaagaaaggaatctgacaaaacaggagttcgtctgagcaatcagatgaggcgtgcagtcaatccgaatcactcgctgagatgttgccccttccagggtcactcgtcgtgtagacgctgcctttgtgcagctgagggaacagcccttggcccctgccacacaatacgtatttatattcacatgtgcctgttgtgggagcagggccagcagatcaccatgatgaggggatcacaagaatcatcactgcggaagacagactctcgagggtaccttgtgcgcagtcaatggtctagaatatcccggagcccatccaccaaggctccatccatagatgagcctagaagcaggaacaccagtgctaagctccccagcagctccacgagctcccggactccatccacctccccaagcctgcatgactcctcaccgccgccgctgtccgggcagccctcgctccagccacccgcgtcgccccagctgccccggtcgctggactcgcggcctcccacgcccccagagcccgatcctggctcccggcgcagcaccaaaatgcaagagaatccggaggcctgggcccaaggcatcgtgcgggaaatccgccagacccgggactcgcagccgctggaatattcgcgcacgtcccccaccgagtggaagtcctccagccagcgcagggggatctaccccgcctccacccagctggaccgcaactctctgtccgagcagcagcagcagcagcgggaggacgaggacgactacgaggctgcctactgggcatccatgaggtcgttctacgagaagaacccgagctgctcgcgcccctggccgcccaaacccaagaacgccatcaccattgctctctcatcctgcgcgctcttcaacatggtggacggcaggaaaatctacgagcaagagggtctggaaaagtacatggagtatcagctcaccaatgagaacgtcatcctgaccccgggcccggcgttccgcttcgtcaaggcactacagtatgtcaatgctagactccgtgatctatatcctgatgaacaggacttatttgatattgtactgatgactaataaccatgcccaagtgggagtgcggcttataaacagcgtcaatcactacggcttactgattgaccgcttctgtctgaccgggggaaaagaccccattggctatttgaaggcatatcttaccaacttgtatattgctgcagattctgaaaaagtgcaagaggcaatacaagaaggtattgcctctgcgacaatgtttgatggagccaaagacatggcttactgtgacactcagctccgtgtagcctttgatggggatgctgtcctcttctctgatgagtctgaacattttaccaaggagcatgggctcgacaaattcttccagtatgatacattatgtgaaagtaagcctcttgctcagggtcccctaaaaggctttctggaagatttaggcagactgcaaaagaagttctatgccaaaaatgaacggttactttgtcctatcaggacctacctggttacagctaggagtgcagccagttcaggcgcccgtgtgctgaagacccttcgacgctggggtctagagatagacgaagctcttttccttgctggagcccccaaaagtcccatcttggtgaagatccggccccacatcttctttgatgaccacatgttccacattgaaggggcacagaggttaggttccatcgcagcttatggctttaataaaaaattcagtagttaggggcagggaggagaaataaagtggtgatagtctggtgttacagaagccacttcttttggctctctaggataattagataggtatttcagaaaattggaccttaaaactttgcttctttggaaaggttttctcctgattttttggaaaaccttttgaaccctcaagttaccatcaaactacttctctttgaactaccaatactgttgaatgccattacacctatctctgtgtaagtcataatgatgactctttaggataagtttagaacttgaatatttgcatgcttaaggcactgttttagaagcttacttagttttataaacactgctcatttttggatgtttgtagataacaatgaattgttacccatcagcattgtagaatagtgtcttcaaaggtagaaggagtatggttaagcacactcttgaaaactggagctttgtattctgtgactgctatggctagctttgtaaccaaagcaaaatgagaatttcactctacctgcatgagtataacaattttgatactgctcatttagaaataaatcatctggttgttcctccagggtactttctaagataagccttaaacagaaacccctaagaaaggttctctgaaaattatttggtgggttaaatgcctctgatccacagagtttcatatttgaagtctccggctttgggcctggcaggctggcacatccatatttgtatggaaaaaaaaaaaaaagaccctacgctaccacttcaaaaagtgacatgaagtgtagtatcctggcccttcattgtcattctctcatgatttttgttttgttttcaacaaaaattggttggtcattaaatatatcatatgttaggcacagtgacctggttattttcacatgttacttcattttcttatcaaattaaatgtttgtgacatagtaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:93034 -> Molecular function: GO:0000166 [nucleotide binding] evidence: IEA
            GeneID:93034 -> Molecular function: GO:0000287 [magnesium ion binding] evidence: IEA
            GeneID:93034 -> Molecular function: GO:0008253 [5'-nucleotidase activity] evidence: IEA
            GeneID:93034 -> Biological process: GO:0006144 [purine nucleobase metabolic process] evidence: TAS
            GeneID:93034 -> Biological process: GO:0006195 [purine nucleotide catabolic process] evidence: TAS
            GeneID:93034 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
            GeneID:93034 -> Biological process: GO:0055086 [nucleobase-containing small molecule metabolic process] evidence: TAS
            GeneID:93034 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
            NP_001002006 -> EC 3.1.3.5

by @meso_cacase at DBCLS
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