GGRNA Home | Help | Advanced search

2019-03-23 04:15:46, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001199086            2847 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens 5'-nucleotidase, cytosolic IB (NT5C1B), transcript
            variant 3, mRNA.
ACCESSION   NM_001199086
VERSION     NM_001199086.1  GI:312283639
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 2847)
  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 2847)
  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 2847)
  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, AK302200.1, BC136387.1, AA774429.1 and AA974253.1.
            
            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 (3) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1,
            resulting in an isoform (3) that is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302200.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025085 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-54                DB054653.1         1-54
            55-1059             AK302200.1         1-1005
            1060-1060           BC136387.1         884-884
            1061-1933           AK302200.1         1007-1879
            1934-2577           BC136387.1         1758-2401
            2578-2695           AA774429.1         127-244             c
            2696-2847           AA974253.1         1-152               c
FEATURES             Location/Qualifiers
     source          1..2847
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.2"
     gene            1..2847
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="5'-nucleotidase, cytosolic IB"
                     /db_xref="GeneID:93034"
                     /db_xref="HGNC:17818"
                     /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..1894
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /EC_number="3.1.3.5"
                     /note="isoform 3 is encoded by transcript variant 3;
                     cytosolic 5'-nucleotidase 1B; autoimmune
                     infertility-related protein"
                     /codon_start=1
                     /product="cytosolic 5'-nucleotidase 1B isoform 3"
                     /protein_id="NP_001186015.1"
                     /db_xref="GI:312283640"
                     /db_xref="GeneID:93034"
                     /db_xref="HGNC:17818"
                     /db_xref="MIM:610526"
                     /translation="
MSQTSLKQKKNEPGMRSSKESLEAEKRKESDKTGVRLSNQGHSSCRRCLCAAEGTALGPCHTIRIYIHMCLLWEQGQQITMMRGSQESSLRKTDSRGYLVRSQWSRISRSPSTKAPSIDEPRSRNTSAKLPSSSTSSRTPSTSPSLHDSSPPPLSGQPSLQPPASPQLPRSLDSRPPTPPEPDPGSRRSTKMQENPEAWAQGIVREIRQTRDSQPLEYSRTSPTEWKSSSQRRGIYPASTQLDRNSLSEQQQQQREDEDDYEAAYWASMRSFYEKNPSCSRPWPPKPKNAITIALSSCALFNMVDGRKIYEQEGLEKYMEYQLTNENVILTPGPAFRFVKALQYVNARLRDLYPDEQDLFDIVLMTNNHAQVGVRLINSVNHYGLLIDRFCLTGGKDPIGYLKAYLTNLYIAADSEKVQEAIQEGIASATMFDGAKDMAYCDTQLRVAFDGDAVLFSDESEHFTKEHGLDKFFQYDTLCESKPLAQGPLKGFLEDLGRLQKKFYAKNERLLCPIRTYLVTARSAASSGARVLKTLRRWGLEIDEALFLAGAPKSPILVKIRPHIFFDDHMFHIEGAQRLGSIAAYGFNKKFSS
"
     misc_feature    1070..1846
                     /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..361
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            362..499
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            500..964
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            965..1132
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1133..1262
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1263..1385
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1386..1570
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     exon            1571..2819
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:1.39.8"
     variation       2198
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3747660"
     STS             2521..2683
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /standard_name="RH99272"
                     /db_xref="UniSTS:88382"
ORIGIN      
ataaatttgacattctaaatgcaaagctagactgagcaagggaagtgacaggaaatggagctggggagacaaaaatgtggataacaacaaaagaatttcaacaggtaaaaaaatgagtcaaacatctctcaaacagaaaaagaatgagcctggaatgaggtcctcaaaagagagtctagaagcagaaaaaagaaaggaatctgacaaaacaggagttcgtctgagcaatcagggtcactcgtcgtgtagacgctgcctttgtgcagctgagggaacagcccttggcccctgccacacaatacgtatttatattcacatgtgcctgttgtgggagcagggccagcagatcaccatgatgaggggatcacaagaatcatcactgcggaagacagactctcgagggtaccttgtgcgcagtcaatggtctagaatatcccggagcccatccaccaaggctccatccatagatgagcctagaagcaggaacaccagtgctaagctccccagcagctccacgagctcccggactccatccacctccccaagcctgcatgactcctcaccgccgccgctgtccgggcagccctcgctccagccacccgcgtcgccccagctgccccggtcgctggactcgcggcctcccacgcccccagagcccgatcctggctcccggcgcagcaccaaaatgcaagagaatccggaggcctgggcccaaggcatcgtgcgggaaatccgccagacccgggactcgcagccgctggaatattcgcgcacgtcccccaccgagtggaagtcctccagccagcgcagggggatctaccccgcctccacccagctggaccgcaactctctgtccgagcagcagcagcagcagcgggaggacgaggacgactacgaggctgcctactgggcatccatgaggtcgttctacgagaagaacccgagctgctcgcgcccctggccgcccaaacccaagaacgccatcaccattgctctctcatcctgcgcgctcttcaacatggtggacggcaggaaaatctacgagcaagagggtctggaaaagtacatggagtatcagctcaccaatgagaacgtcatcctgaccccgggcccggcgttccgcttcgtcaaggcactacagtatgtcaatgctagactccgtgatctatatcctgatgaacaggacttatttgatattgtactgatgactaataaccatgcccaagtgggagtgcggcttataaacagcgtcaatcactacggcttactgattgaccgcttctgtctgaccgggggaaaagaccccattggctatttgaaggcatatcttaccaacttgtatattgctgcagattctgaaaaagtgcaagaggcaatacaagaaggtattgcctctgcgacaatgtttgatggagccaaagacatggcttactgtgacactcagctccgtgtagcctttgatggggatgctgtcctcttctctgatgagtctgaacattttaccaaggagcatgggctcgacaaattcttccagtatgatacattatgtgaaagtaagcctcttgctcagggtcccctaaaaggctttctggaagatttaggcagactgcaaaagaagttctatgccaaaaatgaacggttactttgtcctatcaggacctacctggttacagctaggagtgcagccagttcaggcgcccgtgtgctgaagacccttcgacgctggggtctagagatagacgaagctcttttccttgctggagcccccaaaagtcccatcttggtgaagatccggccccacatcttctttgatgaccacatgttccacattgaaggggcacagaggttaggttccatcgcagcttatggctttaataaaaaattcagtagttaggggcagggaggagaaataaagtggtgatagtctggtgttacagaagccacttcttttggctctctaggataattagataggtatttcagaaaattggaccttaaaactttgcttctttggaaaggttttctcctgattttttggaaaaccttttgaaccctcaagttaccatcaaactacttctctttgaactaccaatactgttgaatgccattacacctatctctgtgtaagtcataatgatgactctttaggataagtttagaacttgaatatttgcatgcttaaggcactgttttagaagcttacttagttttataaacactgctcatttttggatgtttgtagataacaatgaattgttacccatcagcattgtagaatagtgtcttcaaaggtagaaggagtatggttaagcacactcttgaaaactggagctttgtattctgtgactgctatggctagctttgtaaccaaagcaaaatgagaatttcactctacctgcatgagtataacaattttgatactgctcatttagaaataaatcatctggttgttcctccagggtactttctaagataagccttaaacagaaacccctaagaaaggttctctgaaaattatttggtgggttaaatgcctctgatccacagagtttcatatttgaagtctccggctttgggcctggcaggctggcacatccatatttgtatggaaaaaaaaaaaaaagaccctacgctaccacttcaaaaagtgacatgaagtgtagtatcctggcccttcattgtcattctctcatgatttttgttttgttttcaacaaaaattggttggtcattaaatatatcatatgttaggcacagtgacctggttattttcacatgttacttcattttcttatcaaattaaatgtttgtgacatagtaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//

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_001186015 -> EC 3.1.3.5

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.