LOCUS       NM_005581               2409 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens basal cell adhesion molecule (Lutheran blood group)
            (BCAM), transcript variant 1, mRNA.
ACCESSION   NM_005581
VERSION     NM_005581.5
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 2409)
  AUTHORS   An,X., Gauthier,E., Zhang,X., Guo,X., Anstee,D.J., Mohandas,N. and
            Chasis,J.A.
  TITLE     Adhesive activity of Lu glycoproteins is regulated by interaction
            with spectrin
  JOURNAL   Blood 112 (13), 5212-5218 (2008)
   PUBMED   18815288
  REMARK    GeneRIF: the interaction of the Lu cytoplasmic tail with the
            cytoskeleton regulates its adhesive receptor function
REFERENCE   2  (bases 1 to 2409)
  AUTHORS   Mankelow,T.J., Burton,N., Stefansdottir,F.O., Spring,F.A.,
            Parsons,S.F., Pedersen,J.S., Oliveira,C.L., Lammie,D., Wess,T.,
            Mohandas,N., Chasis,J.A., Brady,R.L. and Anstee,D.J.
  TITLE     The Laminin 511/521-binding site on the Lutheran blood group
            glycoprotein is located at the flexible junction of Ig domains 2
            and 3
  JOURNAL   Blood 110 (9), 3398-3406 (2007)
   PUBMED   17638854
  REMARK    GeneRIF: The Laminin 511/521-binding site on the Lutheran blood
            group glycoprotein is located at the flexible junction of Ig
            domains 2 and 3.
REFERENCE   3  (bases 1 to 2409)
  AUTHORS   El Nemer,W., Gane,P., Colin,Y., D'Ambrosio,A.M., Callebaut,I.,
            Cartron,J.P. and Van Kim,C.L.
  TITLE     Characterization of the laminin binding domains of the Lutheran
            blood group glycoprotein
  JOURNAL   J Biol Chem 276 (26), 23757-23762 (2001)
   PUBMED   11319237
REFERENCE   4  (bases 1 to 2409)
  AUTHORS   Parsons,S.F., Lee,G., Spring,F.A., Willig,T.N., Peters,L.L.,
            Gimm,J.A., Tanner,M.J., Mohandas,N., Anstee,D.J. and Chasis,J.A.
  TITLE     Lutheran blood group glycoprotein and its newly characterized mouse
            homologue specifically bind alpha5 chain-containing human laminin
            with high affinity
  JOURNAL   Blood 97 (1), 312-320 (2001)
   PUBMED   11133776
REFERENCE   5  (bases 1 to 2409)
  AUTHORS   El Nemer,W., Gane,P., Colin,Y., Bony,V., Rahuel,C., Galacteros,F.,
            Cartron,J.P. and Le Van Kim,C.
  TITLE     The Lutheran blood group glycoproteins, the erythroid receptors for
            laminin, are adhesion molecules
  JOURNAL   J Biol Chem 273 (27), 16686-16693 (1998)
   PUBMED   9642222
REFERENCE   6  (bases 1 to 2409)
  AUTHORS   El Nemer,W., Rahuel,C., Colin,Y., Gane,P., Cartron,J.P. and Le Van
            Kim,C.
  TITLE     Organization of the human LU gene and molecular basis of the
            Lu(a)/Lu(b) blood group polymorphism
  JOURNAL   Blood 89 (12), 4608-4616 (1997)
   PUBMED   9192786
REFERENCE   7  (bases 1 to 2409)
  AUTHORS   Rahuel,C., Le Van Kim,C., Mattei,M.G., Cartron,J.P. and Colin,Y.
  TITLE     A unique gene encodes spliceoforms of the B-cell adhesion molecule
            cell surface glycoprotein of epithelial cancer and of the Lutheran
            blood group glycoprotein
  JOURNAL   Blood 88 (5), 1865-1872 (1996)
   PUBMED   8781446
REFERENCE   8  (bases 1 to 2409)
  AUTHORS   Parsons,S.F., Mallinson,G., Holmes,C.H., Houlihan,J.M.,
            Simpson,K.L., Mawby,W.J., Spurr,N.K., Warne,D., Barclay,A.N. and
            Anstee,D.J.
  TITLE     The Lutheran blood group glycoprotein, another member of the
            immunoglobulin superfamily, is widely expressed in human tissues
            and is developmentally regulated in human liver
  JOURNAL   Proc Natl Acad Sci U S A 92 (12), 5496-5500 (1995)
   PUBMED   7777537
REFERENCE   9  (bases 1 to 2409)
  AUTHORS   Campbell,I.G., Foulkes,W.D., Senger,G., Trowsdale,J.,
            Garin-Chesa,P. and Rettig,W.J.
  TITLE     Molecular cloning of the B-CAM cell surface glycoprotein of
            epithelial cancers: a novel member of the immunoglobulin
            superfamily
  JOURNAL   Cancer Res 54 (22), 5761-5765 (1994)
   PUBMED   7954395
REFERENCE   10 (bases 1 to 2409)
  AUTHORS   Parsons,S.F., Mallinson,G., Judson,P.A., Anstee,D.J., Tanner,M.J.
            and Daniels,G.L.
  TITLE     Evidence that the Lub blood group antigen is located on red cell
            membrane glycoproteins of 85 and 78 kd
  JOURNAL   Transfusion 27 (1), 61-63 (1987)
   PUBMED   3810828
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP352029.1, BC050450.1 and
            BM985314.1.
            
            On Aug 31, 2019 this sequence version replaced NM_005581.4.
            
            Summary: This gene encodes Lutheran blood group glycoprotein, a
            member of the immunoglobulin superfamily and a receptor for the
            extracellular matrix protein, laminin. The protein contains five
            extracellular immunoglobulin domains, a single transmembrane
            domain, and a short C-terminal cytoplasmic tail. This protein may
            play a role in epithelial cell cancer and in vaso-occlusion of red
            blood cells in sickle cell disease. Polymorphisms in this gene
            define some of the antigens in the Lutheran system and also the
            Auberger system. Inactivating variants of this gene result in the
            recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood
            group. Two transcript variants encoding different isoforms have
            been found for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X83425.1, BC050450.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270233.12/ ENSP00000270233.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BP352029.1         47-63
            18-2246             BC050450.1         1-2229
            2247-2409           BM985314.1         18-180              c
FEATURES             Location/Qualifiers
     source          1..2409
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..2409
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /note="basal cell adhesion molecule (Lutheran blood
                     group)"
                     /db_xref="GeneID:4059"
                     /db_xref="HGNC:HGNC:6722"
                     /db_xref="MIM:612773"
     exon            1..104
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1909
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; basal cell adhesion molecule (Lu and Au blood
                     groups); B-CAM cell surface glycoprotein; Auberger b
                     antigen; F8/G253 antigen; B-cell adhesion molecule;
                     Lutheran blood group variant LUGA"
                     /codon_start=1
                     /product="basal cell adhesion molecule isoform 1
                     precursor"
                     /protein_id="NP_005572.2"
                     /db_xref="CCDS:CCDS12644.1"
                     /db_xref="GeneID:4059"
                     /db_xref="HGNC:HGNC:6722"
                     /db_xref="MIM:612773"
                     /translation="MEPPDAPAQARGAPRLLLLAVLLAAHPDAQAEVRLSVPPLVEVM
                     RGKSVILDCTPTGTHDHYMLEWFLTDRSGARPRLASAEMQGSELQVTMHDTRGRSPPY
                     QLDSQGRLVLAEAQVGDERDYVCVVRAGAAGTAEATARLNVFAKPEATEVSPNKGTLS
                     VMEDSAQEIATCNSRNGNPAPKITWYRNGQRLEVPVEMNPEGYMTSRTVREASGLLSL
                     TSTLYLRLRKDDRDASFHCAAHYSLPEGRHGRLDSPTFHLTLHYPTEHVQFWVGSPST
                     PAGWVREGDTVQLLCRGDGSPSPEYTLFRLQDEQEEVLNVNLEGNLTLEGVTRGQSGT
                     YGCRVEDYDAADDVQLSKTLELRVAYLDPLELSEGKVLSLPLNSSAVVNCSVHGLPTP
                     ALRWTKDSTPLGDGPMLSLSSITFDSNGTYVCEASLPTVPVLSRTQNFTLLVQGSPEL
                     KTAEIEPKADGSWREGDEVTLICSARGHPDPKLSWSQLGGSPAEPIPGRQGWVSSSLT
                     LKVTSALSRDGISCEASNPHGNKRHVFHFGTVSPQTSQAGVAVMAVAVSVGLLLLVVA
                     VFYCVRRKGGPCCRQRREKGAPPPGEPGLSHSGSEQPEQTGLLMGGASGGARGGSGGF
                     GDEC"
     exon            105..226
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            227..455
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            456..526
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            527..623
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            624..806
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            807..943
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1100
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1216
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1358
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1359..1495
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1640
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1785
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..1903
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..2409
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2381..2386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /note="hexamer: AATAAA"
     polyA_site      2409
                     /gene="BCAM"
                     /gene_synonym="AU; B-CAM; CD239; F8/G253; LU; MSK19"
                     /note="major polyA site"
ORIGIN      
        1 agtctccgcc gccgccgtga acatggagcc cccggacgca ccggcccagg cgcgcggggc
       61 cccgcggctg ctgttgctcg cagtcctgct ggcggcgcac ccagatgccc aggcggaggt
      121 gcgcttgtct gtacccccgc tggtggaggt gatgcgagga aagtctgtca ttctggactg
      181 cacccctacg ggaacccacg accattatat gctggaatgg ttccttaccg accgctcggg
      241 agctcgcccc cgcctagcct cggctgagat gcagggctct gagctccagg tcacaatgca
      301 cgacacccgg ggccgcagtc ccccatacca gctggactcc caggggcgcc tggtgctggc
      361 tgaggcccag gtgggcgacg agcgagacta cgtgtgcgtg gtgagggcag gggcggcagg
      421 cactgctgag gccactgcgc ggctcaacgt gtttgcaaag ccagaggcca ctgaggtctc
      481 ccccaacaaa gggacactgt ctgtgatgga ggactctgcc caggagatcg ccacctgcaa
      541 cagccggaac gggaacccgg cccccaagat cacgtggtat cgcaacgggc agcgcctgga
      601 ggtgcccgta gagatgaacc cagagggcta catgaccagc cgcacggtcc gggaggcctc
      661 gggcctgctc tccctcacca gcaccctcta cctgcggctc cgcaaggatg accgagacgc
      721 cagcttccac tgcgccgccc actacagcct gcccgagggc cgccacggcc gcctggacag
      781 ccccaccttc cacctcaccc tgcactatcc cacggagcac gtgcagttct gggtgggcag
      841 cccgtccacc ccagcaggct gggtacgcga gggtgacact gtccagctgc tctgccgggg
      901 ggacggcagc cccagcccgg agtatacgct tttccgcctt caggatgagc aggaggaagt
      961 gctgaatgtg aatctcgagg ggaacttgac cctggaggga gtgacccggg gccagagcgg
     1021 gacctatggc tgcagagtgg aggattacga cgcggcagat gacgtgcagc tctccaagac
     1081 gctggagctg cgcgtggcct atctggaccc cctggagctc agcgagggga aggtgctttc
     1141 cttacctcta aacagcagtg cagtcgtgaa ctgctccgtg cacggcctgc ccacccctgc
     1201 cctacgctgg accaaggact ccactcccct gggcgatggc cccatgctgt cgctcagttc
     1261 tatcaccttc gattccaatg gcacctacgt atgtgaggcc tccctgccca cagtcccggt
     1321 cctcagccgc acccagaact tcacgctgct ggtccaaggc tcgccagagc taaagacagc
     1381 ggaaatagag cccaaggcag atggcagctg gagggaagga gacgaagtca cactcatctg
     1441 ctctgcccgc ggccatccag accccaaact cagctggagc caattggggg gcagccccgc
     1501 agagccaatc cccggacggc agggttgggt gagcagctct ctgaccctga aagtgaccag
     1561 cgccctgagc cgcgatggca tctcctgtga agcctccaac ccccacggga acaagcgcca
     1621 tgtcttccac ttcggcaccg tgagccccca gacctcccag gctggagtgg ccgtcatggc
     1681 cgtggccgtc agcgtgggcc tcctgctcct cgtcgttgct gtcttctact gcgtgagacg
     1741 caaagggggc ccctgctgcc gccagcggcg ggagaagggg gctccgccgc caggggagcc
     1801 agggctgagc cactcggggt cggagcaacc agagcagacc ggccttctca tgggaggtgc
     1861 ctccggagga gccaggggtg gcagcggggg cttcggagac gagtgctgag ccaagaacct
     1921 cctagaggct gtccctggac ctggagctgc aggcatcaga gaaccagccc tgctcacgcc
     1981 atgcccgccc ccgccttccc tcttccctct tccctctccc tgcccagccc tcccttcctt
     2041 cctctgccgg caaggcaggg acccacagtg gctgcctgcc tccgggaggg aaggagaggg
     2101 agggtgggtg ggtgggaggg ggccttcctc cagggaatgt gactctccca ggccccagaa
     2161 tagctcctgg acccaagccc aaggcccagc ctgggacaag gctccgaggg tcggctggcc
     2221 ggagctattt ttacctcccg cctcccctgc tggtcccccc acctgacgtc ttgctgcaga
     2281 gtctgacact ggattccccc ccctcacccc gcccctggtc ccactcctgc ccccgcccta
     2341 cctccgcccc accccatcat ctgtggacac tggagtctgg aataaatgct gtttgtcaca
     2401 tcaacacca
//
