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2025-05-09 18:22:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033253 2718 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens 5'-nucleotidase, cytosolic IB (NT5C1B), transcript
variant 2, mRNA.
ACCESSION NM_033253
VERSION NM_033253.3 GI:312283637
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 2718)
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 2718)
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 2718)
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, AK097422.1, BC136387.1, AA774429.1 and AA974253.1.
On Nov 20, 2010 this sequence version replaced gi:50593107.
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 (2) lacks an in-frame exon in the
5' coding region, compared to variant 1, resulting in an isoform
(2) that is shorter than isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AK097422.1, BC026076.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-11 DB054653.1 1-11
12-793 AK097422.1 1-782
794-2448 BC136387.1 747-2401
2449-2566 AA774429.1 127-244 c
2567-2718 AA974253.1 1-152 c
FEATURES Location/Qualifiers
source 1..2718
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p24.2"
gene 1..2718
/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..1765
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/EC_number="3.1.3.5"
/note="isoform 2 is encoded by transcript variant 2;
cytosolic 5'-nucleotidase 1B; autoimmune
infertility-related protein"
/codon_start=1
/product="cytosolic 5'-nucleotidase 1B isoform 2"
/protein_id="NP_150278.2"
/db_xref="GI:50593108"
/db_xref="CCDS:CCDS33149.1"
/db_xref="GeneID:93034"
/db_xref="HGNC:17818"
/db_xref="HPRD:11405"
/db_xref="MIM:610526"
/translation="
MSQTSLKQKKNEPGMRSSKESLEAEKRKESDKTGVRLSNQGSQESSLRKTDSRGYLVRSQWSRISRSPSTKAPSIDEPRSRNTSAKLPSSSTSSRTPSTSPSLHDSSPPPLSGQPSLQPPASPQLPRSLDSRPPTPPEPDPGSRRSTKMQENPEAWAQGIVREIRQTRDSQPLEYSRTSPTEWKSSSQRRGIYPASTQLDRNSLSEQQQQQREDEDDYEAAYWASMRSFYEKNPSCSRPWPPKPKNAITIALSSCALFNMVDGRKIYEQEGLEKYMEYQLTNENVILTPGPAFRFVKALQYVNARLRDLYPDEQDLFDIVLMTNNHAQVGVRLINSVNHYGLLIDRFCLTGGKDPIGYLKAYLTNLYIAADSEKVQEAIQEGIASATMFDGAKDMAYCDTQLRVAFDGDAVLFSDESEHFTKEHGLDKFFQYDTLCESKPLAQGPLKGFLEDLGRLQKKFYAKNERLLCPIRTYLVTARSAASSGARVLKTLRRWGLEIDEALFLAGAPKSPILVKIRPHIFFDDHMFHIEGAQRLGSIAAYGFNKKFSS
"
misc_feature 122..124
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 941..1717
/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..370
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
exon 371..835
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
exon 836..1003
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
exon 1004..1133
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
exon 1134..1256
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
exon 1257..1441
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
exon 1442..2690
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/inference="alignment:Splign:1.39.8"
variation 2069
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/replace="a"
/replace="g"
/db_xref="dbSNP:3747660"
STS 2392..2554
/gene="NT5C1B"
/gene_synonym="AIRP; CN-IB; CN1B"
/standard_name="RH99272"
/db_xref="UniSTS:88382"
ORIGIN
ataaatttgacattctaaatgcaaagctagactgagcaagggaagtgacaggaaatggagctggggagacaaaaatgtggataacaacaaaagaatttcaacaggtaaaaaaatgagtcaaacatctctcaaacagaaaaagaatgagcctggaatgaggtcctcaaaagagagtctagaagcagaaaaaagaaaggaatctgacaaaacaggagttcgtctgagcaatcagggatcacaagaatcatcactgcggaagacagactctcgagggtaccttgtgcgcagtcaatggtctagaatatcccggagcccatccaccaaggctccatccatagatgagcctagaagcaggaacaccagtgctaagctccccagcagctccacgagctcccggactccatccacctccccaagcctgcatgactcctcaccgccgccgctgtccgggcagccctcgctccagccacccgcgtcgccccagctgccccggtcgctggactcgcggcctcccacgcccccagagcccgatcctggctcccggcgcagcaccaaaatgcaagagaatccggaggcctgggcccaaggcatcgtgcgggaaatccgccagacccgggactcgcagccgctggaatattcgcgcacgtcccccaccgagtggaagtcctccagccagcgcagggggatctaccccgcctccacccagctggaccgcaactctctgtccgagcagcagcagcagcagcgggaggacgaggacgactacgaggctgcctactgggcatccatgaggtcgttctacgagaagaacccgagctgctcgcgcccctggccgcccaaacccaagaacgccatcaccattgctctctcatcctgcgcgctcttcaacatggtggacggcaggaaaatctacgagcaagagggtctggaaaagtacatggagtatcagctcaccaatgagaacgtcatcctgaccccgggcccggcgttccgcttcgtcaaggcactacagtatgtcaatgctagactccgtgatctatatcctgatgaacaggacttatttgatattgtactgatgactaataaccatgcccaagtgggagtgcggcttataaacagcgtcaatcactacggcttactgattgaccgcttctgtctgaccgggggaaaagaccccattggctatttgaaggcatatcttaccaacttgtatattgctgcagattctgaaaaagtgcaagaggcaatacaagaaggtattgcctctgcgacaatgtttgatggagccaaagacatggcttactgtgacactcagctccgtgtagcctttgatggggatgctgtcctcttctctgatgagtctgaacattttaccaaggagcatgggctcgacaaattcttccagtatgatacattatgtgaaagtaagcctcttgctcagggtcccctaaaaggctttctggaagatttaggcagactgcaaaagaagttctatgccaaaaatgaacggttactttgtcctatcaggacctacctggttacagctaggagtgcagccagttcaggcgcccgtgtgctgaagacccttcgacgctggggtctagagatagacgaagctcttttccttgctggagcccccaaaagtcccatcttggtgaagatccggccccacatcttctttgatgaccacatgttccacattgaaggggcacagaggttaggttccatcgcagcttatggctttaataaaaaattcagtagttaggggcagggaggagaaataaagtggtgatagtctggtgttacagaagccacttcttttggctctctaggataattagataggtatttcagaaaattggaccttaaaactttgcttctttggaaaggttttctcctgattttttggaaaaccttttgaaccctcaagttaccatcaaactacttctctttgaactaccaatactgttgaatgccattacacctatctctgtgtaagtcataatgatgactctttaggataagtttagaacttgaatatttgcatgcttaaggcactgttttagaagcttacttagttttataaacactgctcatttttggatgtttgtagataacaatgaattgttacccatcagcattgtagaatagtgtcttcaaaggtagaaggagtatggttaagcacactcttgaaaactggagctttgtattctgtgactgctatggctagctttgtaaccaaagcaaaatgagaatttcactctacctgcatgagtataacaattttgatactgctcatttagaaataaatcatctggttgttcctccagggtactttctaagataagccttaaacagaaacccctaagaaaggttctctgaaaattatttggtgggttaaatgcctctgatccacagagtttcatatttgaagtctccggctttgggcctggcaggctggcacatccatatttgtatggaaaaaaaaaaaaaagaccctacgctaccacttcaaaaagtgacatgaagtgtagtatcctggcccttcattgtcattctctcatgatttttgttttgttttcaacaaaaattggttggtcattaaatatatcatatgttaggcacagtgacctggttattttcacatgttacttcattttcttatcaaattaaatgtttgtgacatagtaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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_150278 -> EC 3.1.3.5
by
@meso_cacase at
DBCLS
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