Home |
Help |
Advanced search
2025-05-09 18:22:32, 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 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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.