LOCUS       NM_001143988            3356 bp    mRNA    linear   PRI 15-DEC-2024
DEFINITION  Homo sapiens NBPF member 6 (NBPF6), transcript variant 2, mRNA.
ACCESSION   NM_001143988 XM_926213
VERSION     NM_001143988.2
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 3356)
  AUTHORS   O'Bleness,M.S., Dickens,C.M., Dumas,L.J., Kehrer-Sawatzki,H.,
            Wyckoff,G.J. and Sikela,J.M.
  TITLE     Evolutionary history and genome organization of DUF1220 protein
            domains
  JOURNAL   G3 (Bethesda) 2 (9), 977-986 (2012)
   PUBMED   22973535
REFERENCE   2  (bases 1 to 3356)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL390038.18 and AL392088.12.
            
            On Jul 20, 2020 this sequence version replaced NM_001143988.1.
            
            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. Gene copy
            number variations in the 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. Alternative splicing of this
            gene results in multiple transcript variants encoding distinct
            isoforms. [provided by RefSeq, Mar 2013].
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000495380.7/ ENSP00000417277.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-122               AL390038.18        36798-36919
            123-335             AL390038.18        37022-37234
            336-435             AL390038.18        38645-38744
            436-650             AL390038.18        39636-39850
            651-729             AL390038.18        40894-40972
            730-941             AL390038.18        41841-42052
            942-993             AL390038.18        43462-43513
            994-1133            AL390038.18        44391-44530
            1134-1185           AL390038.18        45513-45564
            1186-1355           AL390038.18        46388-46557
            1356-1407           AL390038.18        47588-47639
            1408-1580           AL390038.18        48371-48543
            1581-1817           AL390038.18        51643-51879
            1818-2032           AL392088.12        2904-3118
            2033-3356           AL392088.12        6050-7373
FEATURES             Location/Qualifiers
     source          1..3356
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..3356
                     /gene="NBPF6"
                     /note="NBPF member 6"
                     /db_xref="GeneID:653149"
                     /db_xref="HGNC:HGNC:31988"
                     /db_xref="MIM:613996"
     exon            1..122
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            123..335
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..2074
                     /gene="NBPF6"
                     /note="isoform 2 is encoded by transcript variant 2;
                     neuroblastoma breakpoint family member 6; NBPF family
                     member NBPF6"
                     /codon_start=1
                     /product="NBPF family member NBPF6 isoform 2"
                     /protein_id="NP_001137460.1"
                     /db_xref="CCDS:CCDS44184.1"
                     /db_xref="GeneID:653149"
                     /db_xref="HGNC:HGNC:31988"
                     /db_xref="MIM:613996"
                     /translation="MVVSADPLSSERAEMNILEINQELRSQLAESNQQFRDLKEKFLI
                     TQATAYSLANQLKKYKCEEYKDIIDSVLRDELQSMEKLAEKLRQAEELRQYKALVHSQ
                     AKELTQLREKLREGRDASRWLNKHLKTLLTPDDPDKSQGQDLREQLAEGHRLAEHLVH
                     KLSPENDEDEDEDEDDKDEEVEKVQESPAPREVQKTEEKEVPQDSLEECAVTCSNSHN
                     PSNSNQPHRSTKITFKEHEVDSALVVESEHPHDEEEEALNIPPENQNDHEEEEGKAPV
                     PPRHHDKSNSYRHREVSFLALDEQKVCSAQDVARDYSNPKWDETSLGFLEKQSDLEEV
                     KGQETVAPRLSRGPLRVDKHEIPQESLDGCCLTPSILPDLTPSYHPYWSTLYSFEDKQ
                     VSLALVDKIKKDQEEIEDQSPPCPRLSQELPEVKEQEVPEDSVNEVYLTPSVHHDVSD
                     CHQPYSSTLSSLEDQLACSALDVASPTEAACPQGTWSGDLSHHRSEVQISQAQLEPST
                     LVPSCLRLQLDQGFHCGNGLAQRGLSSTTCSFSANADSGNQWPFQELVLEPSLGMKNP
                     PQLEDDALEGSASNTQGRQVTGRIRASLVLILKTIRRRLPFSKWRLAFRFAGPHAESA
                     EIPNTAERMQRMIG"
     exon            336..435
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            436..650
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            651..729
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            730..941
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            942..993
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            994..1133
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1185
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1355
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1407
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1580
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1581..1817
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            1818..2032
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     exon            2033..3356
                     /gene="NBPF6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3219..3224
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBPF6"
                     /note="hexamer: ATTAAA"
     polyA_site      3239
                     /gene="NBPF6"
                     /note="major polyA site"
     regulatory      3320..3325
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBPF6"
                     /note="hexamer: AATAAA"
     polyA_site      3356
                     /gene="NBPF6"
                     /note="major polyA site"
ORIGIN      
        1 actcttgtca gagtcggagc tacaggcagt gccttcagct ctgagctcag gcatcccggt
       61 ccctgttttt gcggttaagg actctaaagt gttgtgtcgt gttcatcaac tttttctcaa
      121 cctccctggc tctacctctt ctgccacaaa cgtcagcatg gtggtatctg ccgacccttt
      181 gtccagcgag agggcagaga tgaacatcct agaaatcaac caggaattgc gctcgcagct
      241 ggcagagagc aatcagcagt tccgagacct caaagagaaa ttccttataa ctcaagctac
      301 tgcctactcc ctggccaacc agctgaagaa atacaagtgt gaagagtaca aagacatcat
      361 agactctgtg ctgagggatg aactgcagtc catggagaag ctggcagaga agctcaggca
      421 agctgaggag ctcaggcagt ataaagccct ggttcactct caggcaaaag agctgaccca
      481 gttacgggag aagttacggg aagggagaga tgcctcccgc tggctgaaca agcatctgaa
      541 aaccctcctc actcctgatg accctgacaa gtcccagggt caggacctcc gagagcagct
      601 ggctgagggg cacaggctgg cagagcacct tgttcacaag ctgagcccag aaaatgatga
      661 agatgaagat gaggatgaag acgacaaaga cgaggaggtt gagaaagtac aggaatcacc
      721 tgcccccaga gaggtgcaga agactgaaga aaaggaagtc cctcaggact cactggagga
      781 atgtgctgtc acttgttcaa atagtcacaa cccttctaac tccaaccagc ctcacaggag
      841 caccaaaatc acatttaagg aacacgaagt cgactctgct ctggttgtag agagtgaaca
      901 ccctcatgat gaagaggagg aagctctaaa cattccccca gaaaatcaaa atgaccatga
      961 ggaggaggag gggaaagcgc cagtgccccc cagacaccat gacaagtcca actcttaccg
     1021 gcatcgtgaa gtctctttct tggcattgga tgaacagaaa gtttgctccg ctcaggatgt
     1081 tgccagggat tactccaatc ccaaatggga tgaaacctca cttggcttcc tcgaaaagca
     1141 aagtgatctt gaagaggtga aaggacaaga aacagttgct cccaggctca gcaggggacc
     1201 gctgagagtg gacaagcatg aaatccccca ggagtcactg gatggatgtt gcttgactcc
     1261 ttccatcctt cctgacctga ctccctccta ccacccttat tggagcactt tgtactcttt
     1321 tgaagacaag caagtcagct tggctcttgt agacaaaatt aaaaaggatc aagaggagat
     1381 agaagaccaa agcccaccat gccccaggct cagccaggag ctgccagagg tgaaggagca
     1441 ggaagtccca gaggactctg tgaatgaagt ttacttgact ccctcagttc accatgacgt
     1501 gtctgactgc caccagcctt atagcagcac cttgtcctca ttggaggatc agcttgcctg
     1561 ctctgctctg gatgtagcct cccccaccga ggcggcctgt ccccaaggga cttggagtgg
     1621 agacttgagc caccaccggt cagaggttca aatttcacag gcacagctgg aaccaagcac
     1681 cctggtgccc agttgtctgc gactacagct ggatcaaggg ttccactgtg ggaacggctt
     1741 ggcccagcgg ggcctttcct ccaccacctg cagcttctca gccaatgctg attctgggaa
     1801 ccaatggccc ttccaagagc tggttttaga gccctctctg gggatgaaga accctcccca
     1861 gctggaagat gatgcacttg aaggctcagc aagcaacaca caagggcgtc aagtcactgg
     1921 ccggattcgt gcctcccttg tcctgatact gaagaccatc agaagaagac tcccgttcag
     1981 caagtggaga ctggcattca gattcgctgg cccgcatgct gagagtgcag agataccaaa
     2041 tactgctgaa aggatgcaaa ggatgatagg atgaaagaat gtcacaaaaa gcagcttttc
     2101 cacttgataa aaacaactaa aacagcaaag caagtttaag tccaaacaca atactgcagg
     2161 ggtccttcac tgaggattga atttcagaca cagaatactc ttgatgactt caagccacta
     2221 tgctcctttg atttgagaag ccacattcca tccccctcca attgtgatca acacctaggg
     2281 agaccaatgc ccagatggac aaatagcatt gactggcgtt agccctgttt ctcaattccc
     2341 atcatgtaga gaacaggagt ccgcagctgc tggcaggaga cagcatgtca gccgggactc
     2401 tgccagggca gagtatgagc aatgccatgt tcttgctgaa aacgtttagc ctgagtttca
     2461 taggaggtaa ccctcagata actgcagaat gtagaacatt gaacaggaca actgacatgt
     2521 ctccttcaaa cagtccatgt caccaccaag aaaacaacaa aaaggagaag agacattttg
     2581 agttcaaaaa gagtaaaaag cctatgcagc ttatgctttt ttagtcattt tgaacccaaa
     2641 acatctcctt atctttttgt tgttgtcatc gatggtggtg acatggactt gtttgtggag
     2701 gacgggtcag ctctctggct caatggtcta cattctgaag ttatctgaaa atgtcgtcat
     2761 gattaaattc agcctaaaca ttttgccagg aactctgcag agtccatgct gtgagcttcc
     2821 tacctcagcc catctgcagg cagagaaggc ccagtgtgtc catccccagt gcggtgatac
     2881 taggatgttc acttggtcaa ggaggggtct aggagctctg tcccttgtaa agacacctta
     2941 tttataatta aattggaaag tggtttgaaa tagtataaat atcctgtatt ctaacaatct
     3001 tcttctgagt attttatcat caattaatca cccctgcctg tgtcagttat tatatttatg
     3061 tttttacatt ggaaattgtc ttctcaaaat tttactatgt acttgttttt gctggcattc
     3121 tgtcgtaaaa aggaacattc cctgcccaaa gtttgacttt catccaaaat taattttagt
     3181 ccattaaagt taaaatgtta aagttttaaa tcactttaat taaatttttt tgcctatcac
     3241 cctggactag tgaatttttc acatacaatg ttttaagctt ttattttatt attggttttc
     3301 atggataaga atatagatta ataaaaacat tcttatttac ctgtttatat tctaaa
//
