LOCUS       NM_001366298            3438 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens brain enriched myelin associated protein 1 (BCAS1),
            transcript variant 7, mRNA.
ACCESSION   NM_001366298 XM_005260587
VERSION     NM_001366298.2
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 3438)
  AUTHORS   Fard,M.K., van der Meer,F., Sanchez,P., Cantuti-Castelvetri,L.,
            Mandad,S., Jakel,S., Fornasiero,E.F., Schmitt,S., Ehrlich,M.,
            Starost,L., Kuhlmann,T., Sergiou,C., Schultz,V., Wrzos,C.,
            Bruck,W., Urlaub,H., Dimou,L., Stadelmann,C. and Simons,M.
  TITLE     BCAS1 expression defines a population of early myelinating
            oligodendrocytes in multiple sclerosis lesions
  JOURNAL   Sci Transl Med 9 (419) (2017)
   PUBMED   29212715
REFERENCE   2  (bases 1 to 3438)
  AUTHORS   Ishimoto,T., Ninomiya,K., Inoue,R., Koike,M., Uchiyama,Y. and
            Mori,H.
  TITLE     Mice lacking BCAS1, a novel myelin-associated protein, display
            hypomyelination, schizophrenia-like abnormal behaviors, and
            upregulation of inflammatory genes in the brain
  JOURNAL   Glia 65 (5), 727-739 (2017)
   PUBMED   28230289
REFERENCE   3  (bases 1 to 3438)
  AUTHORS   Burmester,J.K., Suarez,B.K., Lin,J.H., Jin,C.H., Miller,R.D.,
            Zhang,K.Q., Salzman,S.A., Reding,D.J. and Catalona,W.J.
  TITLE     Analysis of candidate genes for prostate cancer
  JOURNAL   Hum Hered 57 (4), 172-178 (2004)
   PUBMED   15583422
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3438)
  AUTHORS   Beardsley,D.I., Kowbel,D., Lataxes,T.A., Mannino,J.M., Xin,H.,
            Kim,W.J., Collins,C. and Brown,K.D.
  TITLE     Characterization of the novel amplified in breast cancer-1 (NABC1)
            gene product
  JOURNAL   Exp Cell Res 290 (2), 402-413 (2003)
   PUBMED   14567997
REFERENCE   5  (bases 1 to 3438)
  AUTHORS   Lo,K.W., Naisbitt,S., Fan,J.S., Sheng,M. and Zhang,M.
  TITLE     The 8-kDa dynein light chain binds to its targets via a conserved
            (K/R)XTQT motif
  JOURNAL   J Biol Chem 276 (17), 14059-14066 (2001)
   PUBMED   11148209
REFERENCE   6  (bases 1 to 3438)
  AUTHORS   Correa,R.G., de Carvalho,A.F., Pinheiro,N.A., Simpson,A.J. and de
            Souza,S.J.
  TITLE     NABC1 (BCAS1): alternative splicing and downregulation in
            colorectal tumors
  JOURNAL   Genomics 65 (3), 299-302 (2000)
   PUBMED   10857754
REFERENCE   7  (bases 1 to 3438)
  AUTHORS   Collins,C., Rommens,J.M., Kowbel,D., Godfrey,T., Tanner,M.,
            Hwang,S.I., Polikoff,D., Nonet,G., Cochran,J., Myambo,K., Jay,K.E.,
            Froula,J., Cloutier,T., Kuo,W.L., Yaswen,P., Dairkee,S.,
            Giovanola,J., Hutchinson,G.B., Isola,J., Kallioniemi,O.P.,
            Palazzolo,M., Martin,C., Ericsson,C., Pinkel,D., Albertson,D.,
            Li,W.B. and Gray,J.W.
  TITLE     Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2
            and overexpressed in breast carcinoma
  JOURNAL   Proc Natl Acad Sci U S A 95 (15), 8703-8708 (1998)
   PUBMED   9671742
REFERENCE   8  (bases 1 to 3438)
  AUTHORS   Tanner,M.M., Tirkkonen,M., Kallioniemi,A., Isola,J.,
            Kuukasjarvi,T., Collins,C., Kowbel,D., Guan,X.Y., Trent,J.,
            Gray,J.W., Meltzer,P. and Kallioniemi,O.P.
  TITLE     Independent amplification and frequent co-amplification of three
            nonsyntenic regions on the long arm of chromosome 20 in human
            breast cancer
  JOURNAL   Cancer Res 56 (15), 3441-3445 (1996)
   PUBMED   8758909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354801.5, AC004501.1 and
            AC005220.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001366298.1.
            
            Summary: This gene resides in a region at 20q13 which is amplified
            in a variety of tumor types and associated with more aggressive
            tumor phenotypes. Among the genes identified from this region, it
            was found to be highly expressed in three amplified breast cancer
            cell lines and in one breast tumor without amplification at
            20q13.2. However, this gene is not in the common region of maximal
            amplification and its expression was not detected in the breast
            cancer cell line MCF7, in which this region is highly amplified.
            Although not consistently expressed, this gene is a candidate
            oncogene. [provided by RefSeq, Apr 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.2157101.1,
                                           SRR14038192.2386747.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000688948.1/ ENSP00000508731.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-162               AL354801.5         3660-3821           c
            163-239             AC004501.1         31281-31357         c
            240-309             AC004501.1         30719-30788         c
            310-530             AC004501.1         1386-1606           c
            531-890             AC005220.1         1-360
            891-1049            AC005220.1         32702-32860
            1050-1094           AC005220.1         33696-33740
            1095-1229           AC005220.1         36106-36240
            1230-1442           AC005220.1         43253-43465
            1443-1484           AC005220.1         53322-53363
            1485-1652           AC005220.1         61679-61846
            1653-1718           AC005220.1         71255-71320
            1719-1982           AC005220.1         75057-75320
            1983-3438           AC005220.1         83756-85211
FEATURES             Location/Qualifiers
     source          1..3438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     gene            1..3438
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /note="brain enriched myelin associated protein 1"
                     /db_xref="GeneID:8537"
                     /db_xref="HGNC:HGNC:974"
                     /db_xref="MIM:602968"
     exon            1..162
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            163..239
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..2057
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /note="isoform 6 is encoded by transcript variant 7; novel
                     amplified in breast cancer 1; amplified and overexpressed
                     in breast cancer; protein having mRNA enriched in
                     synaptosomes 2; breast carcinoma amplified sequence 1"
                     /codon_start=1
                     /product="breast carcinoma-amplified sequence 1 isoform 6"
                     /protein_id="NP_001353227.1"
                     /db_xref="CCDS:CCDS93061.1"
                     /db_xref="GeneID:8537"
                     /db_xref="HGNC:HGNC:974"
                     /db_xref="MIM:602968"
                     /translation="MGNQMSVPQRVEDQENEPEAETYQDNASALNGVPVVVSTHTVQH
                     LEEVDLGISVKTDNVATSSPETTEISAVADANGKNLGKEAKPEAPAAKSRFFLMLSRP
                     VPGRTGDQAADSSLGSVKLDVSSNKAPANKDPSESWTLPVAAGPGQDTDKTPGHAPAQ
                     DKVLSAARDPTLLPPETGGAGGEAPSKPKDSSFFDKFFKLDKGQEKVPGDSQQEAKRA
                     EHQDKVDEVPGLSGQSDDVPAGKDIVDGKEKEGQELGTADCSVPGDPEGLETAKDDSQ
                     AAAIAENNNSIMSFFKTLVSPNKAETKKDPEDTASKAESVCDGQAGQKTSEIQARGTK
                     KKHLDSPRLGLAFRKFFRHKGAEKSPTTSADLKSDKANFTSQETQGAGKNSKGCNPSG
                     HTQSVTTPEPAKEGTKEKSGPTSLPLGKLFWKKSVKEDSVPTGAEENVVCESPVEIIK
                     SKEVESALQTVDLNEGDAAPEPTEAKLKREESKPRTSLMAFLRQMSVKGDGGITHSEE
                     INGKDSSCQTSDSTEKTITPPEPEPTGAPQKGKEGSSKDKKSAAEMNKQKSNKQEAKE
                     PAQCTEQATVDTNSLQNGDKLQKRPEKRQQSLGGFFKGLGPKRMLDAQVQTDPVSIGP
                     VGKSK"
     exon            240..309
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            310..890
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            891..1049
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1094
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1229
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1442
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..1484
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1652
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1653..1718
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1719..1982
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1983..3438
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3261..3266
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /note="hexamer: AATAAA"
     polyA_site      3288
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /note="major polyA site"
     regulatory      3421..3426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
                     /note="hexamer: AATACA"
     polyA_site      3438
                     /gene="BCAS1"
                     /gene_synonym="AIBC1; NABC1; PMES-2"
ORIGIN      
        1 gtattcagcc agcaggctct gcacaaggaa gcaaagtgca gggagccagg ctccaccgac
       61 agccaggcac tgggcagcac gcactggaga cccaggaccc tgtgcaggag cagctccggg
      121 tgacacgagg ggactgaaga tactcccaca ggggctcagc aggagcaatg ggtaaccaaa
      181 tgagtgttcc ccaaagagtt gaagaccaag agaatgaacc agaagcagag acttaccagg
      241 acaacgcgtc tgctctgaac ggggttccag tggtggtgtc gacccacaca gttcagcact
      301 tagaggaagt cgacttggga ataagtgtca agacggataa tgtggccact tcttcccccg
      361 agacaacgga gataagtgct gttgcggatg ccaacggaaa gaatcttggg aaagaggcca
      421 aacccgaggc accagctgct aaatctcgtt ttttcttgat gctctctcgg cctgtaccag
      481 gacgtaccgg agaccaagcc gcagattcat cccttggatc agtgaagctt gatgtcagct
      541 ccaataaagc tccagcgaac aaagacccaa gtgagagctg gacacttccg gtggcagctg
      601 gaccggggca ggacacagat aaaaccccag ggcacgcccc ggcccaagac aaggtcctct
      661 ctgccgccag ggatcccacg cttctcccac ctgagacagg gggagcagga ggagaagctc
      721 cctccaagcc caaggactcc agcttttttg acaaattctt caagctggac aagggacagg
      781 aaaaggtgcc aggtgacagc caacaggaag ccaagagggc agagcatcaa gacaaggtgg
      841 atgaggttcc tggcttatca gggcagtccg atgatgtccc tgcagggaag gacatagttg
      901 acggcaagga aaaagaagga caagaacttg gaactgcgga ttgctctgtc cctggggacc
      961 cagaaggact ggagactgca aaggacgatt cccaggcagc agctatagca gagaataata
     1021 attccatcat gagtttcttt aaaactctgg tttcacctaa caaagctgaa acaaaaaagg
     1081 acccagaaga cacggcatcg aaagcagaaa gtgtctgtga tggacaagct ggtcagaaga
     1141 catccgagat ccaggctaga ggcaccaaga aaaagcacct ggatagcccc aggctaggac
     1201 tcgcctttag aaaattcttt aggcataagg gtgctgaaaa gtcacccacc acttcagctg
     1261 accttaagtc agacaaagcc aactttacat cccaggagac ccaaggggct ggcaagaatt
     1321 ccaaaggatg caacccatcg gggcacacac agtccgtgac aacccctgaa cctgcgaagg
     1381 aaggcaccaa ggagaaatca ggacccacct ctctgcctct gggcaaactg ttttggaaaa
     1441 agtcagttaa agaggactca gtccccacag gtgcggagga gaatgtggtg tgtgagtcac
     1501 cagtagagat tataaagtcc aaggaagtag aatcagcctt acaaacagtg gacctcaacg
     1561 aaggagatgc tgcacctgaa cccacagaag cgaaactcaa aagagaagaa agcaaaccaa
     1621 gaacctctct gatggcgttt ctcagacaaa tgtcagtgaa aggggatgga gggatcaccc
     1681 actcagaaga aataaatggg aaagactcca gctgccaaac atcagactcc acagaaaaga
     1741 ctatcacacc gccagagcct gaaccaacag gagcaccaca gaagggtaaa gagggctcct
     1801 cgaaggacaa gaagtcagca gccgagatga acaagcagaa gagcaacaag caggaagcca
     1861 aagaaccagc ccagtgcaca gagcaggcca cggtggacac gaactcactg cagaatgggg
     1921 acaagctcca aaagagacct gagaagcggc agcagtccct tgggggcttc tttaaaggcc
     1981 tgggaccaaa gcggatgttg gatgctcaag tgcaaacaga cccagtatcc atcggaccag
     2041 ttggcaaatc caagtaaaca aatcagcacg gttcccacca ggttctcctg ccaccaagat
     2101 gtgttctcct tactccatct cctccccaaa cacgctccat gtatatattc ttctgatggc
     2161 cagcaaatga aattctgcct agaaattaag cccgagctgt tgtatattga ggtgtattat
     2221 ttacgtctct ggtccagtct tttctggcaa ataacagtaa agatggttta gcaggtcacc
     2281 tagttgggtc agaagagtcg atgatcacca agcaggaaag ggagggaata gaggaatgtg
     2341 ttcgggttaa gtgatgaaaa tggcagtggt ggccgggcgt ggtggctctc gcctgtaatc
     2401 tcagcacttt gggaggccga ggcaggtgga tcacctgagg tcaggagttc aagactagcc
     2461 tggccaacat catgaaaccc cgtctctact aaaaatacaa aaattagcca ggcatggtgg
     2521 cacacacctg tagtcccagc tactcgggag cccaacgcac gagaaccgct tgtacccagg
     2581 aggtggaggt tgcagtgagc cgaagttgca ccattgcact ccaccctggg cgacagagca
     2641 agattctatc aaaaaaaaaa aaaggcagtg gcaagtaagt tatagaagag aaatgctgct
     2701 agaaggaatt aagcgttgta gtaaatgcgt gcttatcctc taagcttgaa gaagggagac
     2761 gaaaatccat ttgtttaaat tcacatctca aggagggaga acccgggctg tgttgggtgg
     2821 ttgccaattt cctagaacgg aatgtgtggg gtatagaaaa aggaatgaat aagcgttgtt
     2881 tttcaaatag ggtccttgta agttattgat gagagggaaa agattgactg gggagggctt
     2941 aaaatgattt gggaaaacaa ttgcttttga ggctcagtga caacggcaaa gattacaact
     3001 taaaaaaaaa aaataaataa aaaataaagg aagttgcacg gttattttgc aacacaaggg
     3061 ggcggcaagg tccccatttt tatcctgtaa tactgtatcc ctaacaaaga tttggtctct
     3121 gctatcttac attattaatg tttctcagat ggctgagggg ctcgcttcat ctgttccgtc
     3181 tgacacttat ctcaagtgtg tctgtcattc ctaatgttct caggatgtgc tctgataaaa
     3241 ccctccccat aacctcagtt aataaaaatt tacagaagac ttctcaaata cctgagttgt
     3301 ttttaatacc tgtacaaagg agtaaatagg accctgagtc tattaaaatg taattcaaag
     3361 tagcatatga ttgactgaca gtcatgtaaa ctgtatcttt ctttttctga tttaataaaa
     3421 aatacattta cttctaaa
//
