LOCUS       NM_032264               3767 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens NBPF member 3 (NBPF3), transcript variant 1, mRNA.
ACCESSION   NM_032264 XM_939326
VERSION     NM_032264.6
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 3767)
  AUTHORS   Tomioka,Y., Numata,S., Kinoshita,M., Umehara,H., Watanabe,S.Y.,
            Nakataki,M., Iwayama,Y., Toyota,T., Ikeda,M., Yamamori,H.,
            Shimodera,S., Tajima,A., Hashimoto,R., Iwata,N., Yoshikawa,T. and
            Ohmori,T.
  TITLE     Decreased serum pyridoxal levels in schizophrenia: meta-analysis
            and Mendelian randomization analysis
  JOURNAL   J Psychiatry Neurosci 43 (3), 194-200 (2018)
   PUBMED   29688875
  REMARK    GeneRIF: failed to find a significant association between nbpf3 and
            schizophrenia.
REFERENCE   2  (bases 1 to 3767)
  AUTHORS   Keene,K.L., Chen,W.M., Chen,F., Williams,S.R., Elkhatib,S.D.,
            Hsu,F.C., Mychaleckyj,J.C., Doheny,K.F., Pugh,E.W., Ling,H.,
            Laurie,C.C., Gogarten,S.M., Madden,E.B., Worrall,B.B. and Sale,M.M.
  TITLE     Genetic Associations with Plasma B12, B6, and Folate Levels in an
            Ischemic Stroke Population from the Vitamin Intervention for Stroke
            Prevention (VISP) Trial
  JOURNAL   Front Public Health 2, 112 (2014)
   PUBMED   25147783
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3767)
  AUTHORS   Hasson,S.A., Kane,L.A., Yamano,K., Huang,C.H., Sliter,D.A.,
            Buehler,E., Wang,C., Heman-Ackah,S.M., Hessa,T., Guha,R.,
            Martin,S.E. and Youle,R.J.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   4  (bases 1 to 3767)
  AUTHORS   Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der
            Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E.,
            Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J.,
            Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo
            Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P.,
            Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z.,
            Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F.,
            Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G.,
            Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N.,
            Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L.,
            Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E.,
            Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P.,
            Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P.,
            Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B.,
            Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I.,
            Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R.,
            Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N.,
            Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H.,
            Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T.,
            Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C.,
            Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C.,
            Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I.,
            Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K.,
            McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H.,
            Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C.,
            Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J.,
            Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C.,
            Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K.,
            Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R.,
            Elliott,P. and Kooner,J.S.
  CONSRTM   Alcohol Genome-wide Association (AlcGen) Consortium; Diabetes
            Genetics Replication and Meta-analyses (DIAGRAM+) Study; Genetic
            Investigation of Anthropometric Traits (GIANT) Consortium; Global
            Lipids Genetics Consortium; Genetics of Liver Disease (GOLD)
            Consortium; International Consortium for Blood Pressure
            (ICBP-GWAS); Meta-analyses of Glucose and Insulin-Related Traits
            Consortium (MAGIC)
  TITLE     Genome-wide association study identifies loci influencing
            concentrations of liver enzymes in plasma
  JOURNAL   Nat Genet 43 (11), 1131-1138 (2011)
   PUBMED   22001757
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3767)
  AUTHORS   Kestenbaum,B., Glazer,N.L., Kottgen,A., Felix,J.F., Hwang,S.J.,
            Liu,Y., Lohman,K., Kritchevsky,S.B., Hausman,D.B., Petersen,A.K.,
            Gieger,C., Ried,J.S., Meitinger,T., Strom,T.M., Wichmann,H.E.,
            Campbell,H., Hayward,C., Rudan,I., de Boer,I.H., Psaty,B.M.,
            Rice,K.M., Chen,Y.D., Li,M., Arking,D.E., Boerwinkle,E., Coresh,J.,
            Yang,Q., Levy,D., van Rooij,F.J., Dehghan,A., Rivadeneira,F.,
            Uitterlinden,A.G., Hofman,A., van Duijn,C.M., Shlipak,M.G.,
            Kao,W.H., Witteman,J.C., Siscovick,D.S. and Fox,C.S.
  TITLE     Common genetic variants associate with serum phosphorus
            concentration
  JOURNAL   J Am Soc Nephrol 21 (7), 1223-1232 (2010)
   PUBMED   20558539
REFERENCE   6  (bases 1 to 3767)
  AUTHORS   Hazra,A., Kraft,P., Lazarus,R., Chen,C., Chanock,S.J., Jacques,P.,
            Selhub,J. and Hunter,D.J.
  TITLE     Genome-wide significant predictors of metabolites in the one-carbon
            metabolism pathway
  JOURNAL   Hum Mol Genet 18 (23), 4677-4687 (2009)
   PUBMED   19744961
REFERENCE   7  (bases 1 to 3767)
  AUTHORS   Vandepoele,K. and van Roy,F.
  TITLE     Insertion of an HERV(K) LTR in the intron of NBPF3 is not required
            for its transcriptional activity
  JOURNAL   Virology 362 (1), 1-5 (2007)
   PUBMED   17391723
  REMARK    GeneRIF: Study shows that an NBPF gene lacking this insertion,
            NBPF3, is expressed in a variety of tissues; thus the effect of
            HERV(K) LTR insertion on NBPF gene expression remains unknown.
            Erratum:[Virology. 2008 Jan 20;370(2):451]
REFERENCE   8  (bases 1 to 3767)
  AUTHORS   Vandepoele,K., Van Roy,N., Staes,K., Speleman,F. and van Roy,F.
  TITLE     A novel gene family NBPF: intricate structure generated by gene
            duplications during primate evolution
  JOURNAL   Mol Biol Evol 22 (11), 2265-2274 (2005)
   PUBMED   16079250
REFERENCE   9  (bases 1 to 3767)
  AUTHORS   Jons,T. and Drenckhahn,D.
  TITLE     Anion exchanger 2 (AE2) binds to erythrocyte ankyrin and is
            colocalized with ankyrin along the basolateral plasma membrane of
            human gastric parietal cells
  JOURNAL   Eur J Cell Biol 75 (3), 232-236 (1998)
   PUBMED   9587054
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL592309.24.
            
            On Jan 15, 2020 this sequence version replaced NM_032264.5.
            
            Summary: This gene is a member of the neuroblastoma breakpoint
            family (NBPF) which consists of dozens of recently duplicated genes
            primarily located in segmental duplications on human chromosome 1.
            This gene family has experienced its greatest expansion within the
            human lineage and has expanded, to a lesser extent, among primates
            in general. Members of this gene family are characterized by
            tandemly repeated copies of DUF1220 protein domains. DUF1220 copy
            number variations in human chromosomal region 1q21.1, where most
            DUF1220 domains are located, have been implicated in a number of
            developmental and neurogenetic diseases such as microcephaly,
            macrocephaly, autism, schizophrenia, cognitive disability,
            congenital heart disease, neuroblastoma, and congenital kidney and
            urinary tract anomalies. Altered expression of some gene family
            members is associated with several types of cancer. This gene
            family contains numerous pseudogenes. [provided by RefSeq, Feb
            2013].
            
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136890.1, SRR18074969.2268893.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318249.10/ ENSP00000316782.5
            RefSeq Select criteria :: based on manual assertion, longest
                                      protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-212               AL592309.24        30447-30658
            213-484             AL592309.24        35258-35529
            485-694             AL592309.24        58998-59207
            695-797             AL592309.24        60942-61044
            798-1012            AL592309.24        61879-62093
            1013-1085           AL592309.24        63153-63225
            1086-1291           AL592309.24        63690-63895
            1292-1343           AL592309.24        65210-65261
            1344-1507           AL592309.24        68454-68617
            1508-1559           AL592309.24        69659-69710
            1560-1732           AL592309.24        70361-70533
            1733-1784           AL592309.24        71240-71291
            1785-1957           AL592309.24        71907-72079
            1958-2009           AL592309.24        72794-72845
            2010-3767           AL592309.24        73453-75210
FEATURES             Location/Qualifiers
     source          1..3767
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.12"
     gene            1..3767
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /note="NBPF member 3"
                     /db_xref="GeneID:84224"
                     /db_xref="HGNC:HGNC:25076"
                     /db_xref="MIM:612992"
     exon            1..212
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            213..484
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             352..2253
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein SHIIIa4; neuroblastoma breakpoint family member 3;
                     NBPF family member NBPF3"
                     /codon_start=1
                     /product="NBPF family member NBPF3 isoform 1"
                     /protein_id="NP_115640.1"
                     /db_xref="CCDS:CCDS216.1"
                     /db_xref="GeneID:84224"
                     /db_xref="HGNC:HGNC:25076"
                     /db_xref="MIM:612992"
                     /translation="MPLTPTVQGFQWTLRGPDVETSPFGAPRAASHGVGRHQELRDPT
                     VPGPTSSATNVSMVVSAGPWSGEKAEMNILEINKKSRPQLAENKQQFRNLKQKCLVTQ
                     VAYFLANRQNNYDYEDCKDLIKSMLRDERLLTEEKLAEELGQAEELRQYKVLVHSQER
                     ELTQLREKLQEGRDASRSLNQHLQALLTPDEPDNSQGRDLREQLAEGCRLAQHLVQKL
                     SPENDDDEDEDVKVEEAEKVQELYAPREVQKAEEKEVPEDSLEECAITCSNSHHPCES
                     NQPYGNTRITFEEDQVDSTLIDSSSHDEWLDAVCIIPENESDHEQEEEKGPVSPRNLQ
                     ESEEEEAPQESWDEGDWTLSIPPDMSASYQSDRSTFHSVEEQQVGLALDIGRHWCDQV
                     KKEDQEATSPRLSRELLDEKEPEVLQDSLDRFYSTPFEYLELPDLCQPYRSDFYSLQE
                     QHLGLALDLDRMKKDQEEEEDQGPPCPRLSRELPEVVEPEDLQDSLDRWYSTPFSYPE
                     LPDSCQPYGSCFYSLEEEHVGFSLDVDEIEKYQEGEEDQKPPCPRLNEVLMEAEEPEV
                     LQDSLDRCYSTTSTYFQLHASFQQYRSAFYSFEEQDVSLALDVDNRFFTLTVIRHHLA
                     FQMGVIFPH"
     exon            485..694
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            695..797
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            798..1012
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1085
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1291
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1343
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1507
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1559
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1560..1732
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1733..1784
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1957
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2009
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     exon            2010..3767
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3747..3752
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /note="hexamer: ATTAAA"
     polyA_site      3767
                     /gene="NBPF3"
                     /gene_synonym="AE2"
                     /note="major polyA site"
ORIGIN      
        1 acaggcgagg ggttgggtgg cggttgagac agcggcggta ctgggatggg taggtgagga
       61 tcccgagact gagtgagctt ctgcgcgcgg tgcttttggg aacgcgggac tggcaacctg
      121 cggcgccagg agctgggccg aggcgcggcg gcgcggctgc gggccgccgt ctggatggga
      181 agttacggcg aagtccaccc agcgtttctc aggcaatctg aaggcaaatc ctgtttagac
      241 ccaggcgaag gttcctggtg acccaggctc tcaccagcca attgtccctt gccgtcctcc
      301 tgagggtatc tggagcttca gtgctgtgtg ctcttggcct ccacactggg gatgccactg
      361 actcccactg tccagggctt ccagtggact ctccgaggcc ctgatgtaga aacttcccca
      421 ttcggtgcac caagagcagc ctcacatggt gtgggccgac atcaagagct gcgagatcca
      481 acagtccctg gccccacctc ttctgccaca aacgtcagca tggtggtatc tgccggccct
      541 tggtccggtg agaaggcaga gatgaacatt ctagaaatca acaagaaatc gcgcccccag
      601 ctggcagaga acaaacagca gttcagaaac ctcaaacaga aatgtcttgt aactcaagtg
      661 gcctacttcc tggccaaccg gcaaaataat tacgactatg aagactgcaa agacctcata
      721 aaatctatgc tgagggatga gcggctgctc acagaagaga agcttgcaga ggagctcggg
      781 caagctgagg agctcaggca atataaagtc ctggttcact ctcaggaacg agagctgacc
      841 cagttaaggg agaagttaca ggaagggaga gatgcctccc gctcattgaa tcagcatctc
      901 caggccctcc tcactccgga tgagccggac aactcccagg gacgggacct ccgagaacag
      961 ctggctgagg gatgtaggct ggcacagcac ctcgtccaaa agctcagccc agaaaatgat
     1021 gacgatgagg atgaagatgt taaagttgag gaggctgaga aagtacagga attatatgcc
     1081 cccagggagg tgcagaaggc tgaagaaaag gaagtccctg aggactcact ggaggagtgt
     1141 gccatcactt gttcaaatag ccaccaccct tgtgagtcca accagcctta cgggaacacc
     1201 agaatcacat ttgaggaaga ccaagtcgac tcaactctca ttgactcatc ctctcatgat
     1261 gaatggttgg atgctgtatg cattatccca gaaaatgaaa gtgatcatga gcaagaggaa
     1321 gaaaaagggc cagtgtctcc caggaatctg caggagtctg aagaggagga agccccccag
     1381 gagtcctggg atgaaggtga ttggactctc tcaattcctc ctgacatgtc tgcctcatac
     1441 cagtctgaca ggagcacctt tcactcagta gaggaacagc aagtcggctt ggctcttgac
     1501 ataggcagac attggtgtga tcaagtgaaa aaggaggacc aagaggccac aagtcccagg
     1561 ctcagcaggg agctgctgga tgagaaagag cctgaagtct tgcaggactc actggataga
     1621 ttttattcaa ctccttttga gtacctggaa ctgcctgact tatgccagcc ctacagaagt
     1681 gacttttact cattgcagga acaacacctt ggcttggctc ttgacttgga cagaatgaaa
     1741 aaggaccaag aagaggaaga agaccaaggc ccaccatgcc ccaggctcag cagagagctg
     1801 ccggaggtag tagagcctga ggacttgcag gactcactgg atagatggta ttcgactcct
     1861 ttcagttatc cagaactgcc tgattcatgc cagccctacg gaagttgctt ttactcattg
     1921 gaggaagaac acgttggctt ttctcttgac gtggatgaaa ttgaaaagta ccaagaaggg
     1981 gaagaagatc aaaagccacc atgccccagg ctcaacgagg tgctgatgga agcagaagag
     2041 cctgaagtct tgcaggactc actggataga tgttattcga ctacttcaac ttactttcaa
     2101 ctacatgcct cattccagca gtatagaagt gccttttact catttgagga acaggacgtc
     2161 agcttggccc ttgacgtgga caataggttt tttactttga cagtgataag gcaccacctg
     2221 gccttccaga tgggagtcat attcccacac taagcagccc ttactaagct gagagatgtc
     2281 attgctgcag gcaggacgta taggcacatg taggtttgaa tgaaactgta gttccctttg
     2341 gaagcccagt cataggatgg gaaagtgggc atggctctat tcctattctc agaccatgcc
     2401 agtggccacc tgtgctcagt ctgaagacgt tggacccaag ttaggtgtga cacgttcaca
     2461 cgactatgta gcacatgccg ggagtgatct gccagacatt ctaatttgaa ccagatatct
     2521 ctgggtagct acaaagttcc tcaggggttt cattttgcag gcatgtctct gagcttctat
     2581 acctgctcaa ggtcagtgtc atctttgtgt ttagctcatc caaaggtgtt accctggttt
     2641 cattgaacct aaccccattc tttgtatctt cagtgttggt ttgttttagc tgatccatct
     2701 gtaacacagg agggatcctt ggctgaggat tgtatttcag aaccactgac tgctcttgac
     2761 agttgttaac ccactaggct cctttgagta gagaagccat agtccttcag cctccaattg
     2821 atatcaatac ttaggaagac cacagctaga cggacaaaca gcattgggag gccttagtcc
     2881 tgctcctttc aattccatcc tgtaaagaac aggagtcagg agccgctggc aagagacagc
     2941 atgtcacctg ggactctgcc agtgcagaat atgaacaatg ccatgttctt gcagaaaatg
     3001 cttagcctga gtttcatagg aggtaatcac cagacaactg cagaatgtag aacactgagc
     3061 aggacaactg acctgtctcc ttcacacagt ccacgtcacc acgaatcaca caacaaaaag
     3121 gaggagagat attttgggtt cagaagaagt aaatgataat gtagctacat ttctttagtt
     3181 attttgaacc ccaaatattt cctcatcttt ttgttgttgt cattgatttt ggtgacatgg
     3241 acttgtttgt agaggacagg tcagctgtct ggctcaatgg tctacattct gaagttgtct
     3301 gaaaatgtct tcatgattaa attcagccta aacgtttcat caagaacact acagagtcga
     3361 tactgtgagt ttccaacctc agcccatctg tgggcagaga aggtctagtt tgtccatcag
     3421 cattatcatg atatcaggac tggttacttg gttaaggagg ggtctaggag atctgtccct
     3481 tttagagaca ccttacttat gatgaagtat ttgggagagt ggtttttcaa agtagaaatg
     3541 tcctgtattc cagtgatcat cctctaaacg ttttatcatt tattaatcat ccctgcctgt
     3601 gtctattatt atattcatat ctctacgctg gaaatttgct gcctcaatgt ttactgtgcc
     3661 tttgtttttg ctagtgtgtg ttgttgaaaa aaaaacattc tctgcctgag ttttaatttt
     3721 tgtccaaagt tattttaatc tatacaatta aaaacttttg cctatca
//
