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2025-05-09 18:23:27, 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 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
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