LOCUS       NM_033253               2679 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens 5'-nucleotidase, cytosolic IB (NT5C1B), transcript
            variant 2, mRNA.
ACCESSION   NM_033253
VERSION     NM_033253.4
KEYWORDS    RefSeq; MANE Select.
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 2679)
  AUTHORS   Wade,T.D., Gordon,S., Medland,S., Bulik,C.M., Heath,A.C.,
            Montgomery,G.W. and Martin,N.G.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   2  (bases 1 to 2679)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   3  (bases 1 to 2679)
  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   4  (bases 1 to 2679)
  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   5  (bases 1 to 2679)
  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
            AK097422.1, BC136387.1, AA774429.1 and AA974253.1.
            
            On Jun 2, 2019 this sequence version replaced NM_033253.3.
            
            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
                                           SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304081.9/ ENSP00000305979.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-782               AK097422.1         1-782
            783-2437            BC136387.1         747-2401
            2438-2555           AA774429.1         127-244             c
            2556-2679           AA974253.1         29-152              c
FEATURES             Location/Qualifiers
     source          1..2679
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.2"
     gene            1..2679
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="5'-nucleotidase, cytosolic IB"
                     /db_xref="GeneID:93034"
                     /db_xref="HGNC:HGNC:17818"
                     /db_xref="MIM:610526"
     exon            1..131
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..1754
                     /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; testicular tissue protein Li
                     1"
                     /codon_start=1
                     /product="cytosolic 5'-nucleotidase 1B isoform 2"
                     /protein_id="NP_150278.2"
                     /db_xref="CCDS:CCDS33149.1"
                     /db_xref="GeneID:93034"
                     /db_xref="HGNC:HGNC:17818"
                     /db_xref="MIM:610526"
                     /translation="MSQTSLKQKKNEPGMRSSKESLEAEKRKESDKTGVRLSNQGSQE
                     SSLRKTDSRGYLVRSQWSRISRSPSTKAPSIDEPRSRNTSAKLPSSSTSSRTPSTSPS
                     LHDSSPPPLSGQPSLQPPASPQLPRSLDSRPPTPPEPDPGSRRSTKMQENPEAWAQGI
                     VREIRQTRDSQPLEYSRTSPTEWKSSSQRRGIYPASTQLDRNSLSEQQQQQREDEDDY
                     EAAYWASMRSFYEKNPSCSRPWPPKPKNAITIALSSCALFNMVDGRKIYEQEGLEKYM
                     EYQLTNENVILTPGPAFRFVKALQYVNARLRDLYPDEQDLFDIVLMTNNHAQVGVRLI
                     NSVNHYGLLIDRFCLTGGKDPIGYLKAYLTNLYIAADSEKVQEAIQEGIASATMFDGA
                     KDMAYCDTQLRVAFDGDAVLFSDESEHFTKEHGLDKFFQYDTLCESKPLAQGPLKGFL
                     EDLGRLQKKFYAKNERLLCPIRTYLVTARSAASSGARVLKTLRRWGLEIDEALFLAGA
                     PKSPILVKIRPHIFFDDHMFHIEGAQRLGSIAAYGFNKKFSS"
     exon            132..221
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            222..359
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            360..824
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            825..992
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1122
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1123..1245
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1430
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..2679
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2294..2299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="hexamer: AATAAA"
     polyA_site      2313
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
     regulatory      2590..2595
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="hexamer: ATTAAA"
     regulatory      2594..2599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="hexamer: AATATA"
     polyA_site      2609
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="major polyA site"
     polyA_site      2619
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
     regulatory      2658..2663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
                     /note="hexamer: ATTAAA"
     polyA_site      2679
                     /gene="NT5C1B"
                     /gene_synonym="AIRP; CN-IB; CN1B"
ORIGIN      
        1 attctaaatg caaagctaga ctgagcaagg gaagtgacag gaaatggagc tggggagaca
       61 aaaatgtgga taacaacaaa agaatttcaa caggtaaaaa aatgagtcaa acatctctca
      121 aacagaaaaa gaatgagcct ggaatgaggt cctcaaaaga gagtctagaa gcagaaaaaa
      181 gaaaggaatc tgacaaaaca ggagttcgtc tgagcaatca gggatcacaa gaatcatcac
      241 tgcggaagac agactctcga gggtaccttg tgcgcagtca atggtctaga atatcccgga
      301 gcccatccac caaggctcca tccatagatg agcctagaag caggaacacc agtgctaagc
      361 tccccagcag ctccacgagc tcccggactc catccacctc cccaagcctg catgactcct
      421 caccgccgcc gctgtccggg cagccctcgc tccagccacc cgcgtcgccc cagctgcccc
      481 ggtcgctgga ctcgcggcct cccacgcccc cagagcccga tcctggctcc cggcgcagca
      541 ccaaaatgca agagaatccg gaggcctggg cccaaggcat cgtgcgggaa atccgccaga
      601 cccgggactc gcagccgctg gaatattcgc gcacgtcccc caccgagtgg aagtcctcca
      661 gccagcgcag ggggatctac cccgcctcca cccagctgga ccgcaactct ctgtccgagc
      721 agcagcagca gcagcgggag gacgaggacg actacgaggc tgcctactgg gcatccatga
      781 ggtcgttcta cgagaagaac ccgagctgct cgcgcccctg gccgcccaaa cccaagaacg
      841 ccatcaccat tgctctctca tcctgcgcgc tcttcaacat ggtggacggc aggaaaatct
      901 acgagcaaga gggtctggaa aagtacatgg agtatcagct caccaatgag aacgtcatcc
      961 tgaccccggg cccggcgttc cgcttcgtca aggcactaca gtatgtcaat gctagactcc
     1021 gtgatctata tcctgatgaa caggacttat ttgatattgt actgatgact aataaccatg
     1081 cccaagtggg agtgcggctt ataaacagcg tcaatcacta cggcttactg attgaccgct
     1141 tctgtctgac cgggggaaaa gaccccattg gctatttgaa ggcatatctt accaacttgt
     1201 atattgctgc agattctgaa aaagtgcaag aggcaataca agaaggtatt gcctctgcga
     1261 caatgtttga tggagccaaa gacatggctt actgtgacac tcagctccgt gtagcctttg
     1321 atggggatgc tgtcctcttc tctgatgagt ctgaacattt taccaaggag catgggctcg
     1381 acaaattctt ccagtatgat acattatgtg aaagtaagcc tcttgctcag ggtcccctaa
     1441 aaggctttct ggaagattta ggcagactgc aaaagaagtt ctatgccaaa aatgaacggt
     1501 tactttgtcc tatcaggacc tacctggtta cagctaggag tgcagccagt tcaggcgccc
     1561 gtgtgctgaa gacccttcga cgctggggtc tagagataga cgaagctctt ttccttgctg
     1621 gagcccccaa aagtcccatc ttggtgaaga tccggcccca catcttcttt gatgaccaca
     1681 tgttccacat tgaaggggca cagaggttag gttccatcgc agcttatggc tttaataaaa
     1741 aattcagtag ttaggggcag ggaggagaaa taaagtggtg atagtctggt gttacagaag
     1801 ccacttcttt tggctctcta ggataattag ataggtattt cagaaaattg gaccttaaaa
     1861 ctttgcttct ttggaaaggt tttctcctga ttttttggaa aaccttttga accctcaagt
     1921 taccatcaaa ctacttctct ttgaactacc aatactgttg aatgccatta cacctatctc
     1981 tgtgtaagtc ataatgatga ctctttagga taagtttaga acttgaatat ttgcatgctt
     2041 aaggcactgt tttagaagct tacttagttt tataaacact gctcattttt ggatgtttgt
     2101 agataacaat gaattgttac ccatcagcat tgtagaatag tgtcttcaaa ggtagaagga
     2161 gtatggttaa gcacactctt gaaaactgga gctttgtatt ctgtgactgc tatggctagc
     2221 tttgtaacca aagcaaaatg agaatttcac tctacctgca tgagtataac aattttgata
     2281 ctgctcattt agaaataaat catctggttg ttcctccagg gtactttcta agataagcct
     2341 taaacagaaa cccctaagaa aggttctctg aaaattattt ggtgggttaa atgcctctga
     2401 tccacagagt ttcatatttg aagtctccgg ctttgggcct ggcaggctgg cacatccata
     2461 tttgtatgga aaaaaaaaaa aaagacccta cgctaccact tcaaaaagtg acatgaagtg
     2521 tagtatcctg gcccttcatt gtcattctct catgattttt gttttgtttt caacaaaaat
     2581 tggttggtca ttaaatatat catatgttag gcacagtgac ctggttattt tcacatgtta
     2641 cttcattttc ttatcaaatt aaatgtttgt gacatagta
//
