LOCUS NP_001013275 588 aa linear PRI 21-SEP-2008
DEFINITION basal cell adhesion molecule isoform 2 precursor [Homo sapiens].
ACCESSION NP_001013275
VERSION NP_001013275.1 GI:61742797
DBSOURCE REFSEQ: accession NM_001013257.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 588)
AUTHORS Kikkawa,Y., Sudo,R., Kon,J., Mizuguchi,T., Nomizu,M., Hirata,K. and
Mitaka,T.
TITLE Laminin alpha 5 mediates ectopic adhesion of hepatocellular
carcinoma through integrins and/or Lutheran/basal cell adhesion
molecule
JOURNAL Exp. Cell Res. 314 (14), 2579-2590 (2008)
PUBMED 18635166
REMARK GeneRIF: These results suggest that laminins containing alpha 5
serve as functional substrates regulating progression of
hepatocellular carcinoma.
REFERENCE 2 (residues 1 to 588)
AUTHORS Polin,H., Danzer,M., Proll,J., Hofer,K., Heilinger,U., Zopf,A. and
Gabriel,C.
TITLE Introduction of a real-time based blood group genotyping approach
JOURNAL Vox Sang. 95 (2), 125-130 (2008)
PUBMED 18510579
REMARK GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE 3 (residues 1 to 588)
AUTHORS El Nemer,W., Gauthier,E., Wautier,M.P., Rahuel,C., Gane,P.,
Galacteros,F., Wautier,J.L., Cartron,J.P., Colin,Y. and Le Van
Kim,C.
TITLE Role of Lu/BCAM in abnormal adhesion of sickle red blood cells to
vascular endothelium
JOURNAL Transfus Clin Biol 15 (1-2), 29-33 (2008)
PUBMED 18514010
REMARK GeneRIF: Lu/BCAM gps expressed on erythroid or on endothelial cells
are involved in SS RBC-endothelium interactions & could play a role
in abnormal adhesion of SS RBCs to vascular endothelium
contributing to vaso-occlusive crises reported for sickle cell
disease.
REFERENCE 4 (residues 1 to 588)
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 5 (residues 1 to 588)
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 6 (residues 1 to 588)
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 7 (residues 1 to 588)
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 8 (residues 1 to 588)
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 (residues 1 to 588)
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 (residues 1 to 588)
AUTHORS Lewis,M., Kaita,H., Coghlan,G., Philipps,S., Belcher,E.,
McAlpine,P.J., Coopland,G.R. and Woods,R.A.
TITLE The chromosome 19 linkage group LDLR, C3, LW, APOC2, LU, SE in man
JOURNAL Ann. Hum. Genet. 52 (PT 2), 137-144 (1988)
PUBMED 2907851
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BX387680.2, BC050450.1,
X80026.1 and AC092306.2.
Summary: Lutheran blood group glycoprotein is a member of the
immunoglobulin superfamily and a receptor for the extracellular
matrix protein, laminin. The protein contains five, N-terminus,
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. Two transcript variants
encoding different isoforms have been found for this gene.
[provided by RefSeq].
Transcript Variant: This variant (2) includes an alternate segment
in the 3' coding region which results in an early stop codon,
compared to variant 1. The encoded isoform (2) is shorter, compared
to isoform 1. The cytoplasmic C-terminus of isoform 2 lacks a 40 aa
domain which carries a consensus binding site for SRC homology 3
(SH3) motifs, relative to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..588
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.2"
Protein 1..588
/product="basal cell adhesion molecule isoform 2
precursor"
/note="B-CAM cell surface glycoprotein; Auberger b
antigen; F8/G253 antigen; antigen identified by monoclonal
antibody F8; glycoprotein 95kDa; B-cell adhesion molecule;
Lutheran blood group (Auberger b antigen included); basal
cell adhesion molecule (Lu and Au blood groups)"
sig_peptide 1..31
/calculated_mol_wt=3175
mat_peptide 32..588
/product="Lutheran blood group glycoprotein isoform 2"
/calculated_mol_wt=60537
CDS 1..588
/gene="BCAM"
/gene_synonym="AU"
/gene_synonym="LU"
/gene_synonym="CD239"
/gene_synonym="MSK19"
/coded_by="NM_001013257.1:45..1811"
/note="isoform 2 precursor is encoded by transcript
variant 2"
/db_xref="CCDS:CCDS42575.1"
/db_xref="GeneID:4059"
/db_xref="HGNC:6722"
/db_xref="HPRD:00197"
/db_xref="MIM:111200"
ORIGIN
1 meppdapaqa rgaprlllla vllaahpdaq aevrlsvppl vevmrgksvi ldctptgthd
61 hymlewfltd rsgarprlas aemqgselqv tmhdtrgrsp pyqldsqgrl vlaeaqvgde
121 rdyvcvvrag aagtaeatar lnvfakpeat evspnkgtls vmedsaqeia tcnsrngnpa
181 pkitwyrngq rlevpvemnp egymtsrtvr easgllslts tlylrlrkdd rdasfhcaah
241 yslpegrhgr ldsptfhltl hyptehvqfw vgspstpagw vregdtvqll crgdgspspe
301 ytlfrlqdeq eevlnvnleg nltlegvtrg qsgtygcrve dydaaddvql sktlelrvay
361 ldplelsegk vlslplnssa vvncsvhglp tpalrwtkds tplgdgpmls lssitfdsng
421 tyvceaslpt vpvlsrtqnf tllvqgspel ktaeiepkad gswregdevt licsarghpd
481 pklswsqlgg spaepipgrq gwvsssltlk vtsalsrdgi sceasnphgn krhvfhfgtv
541 spqtsqagva vmavavsvgl lllvvavfyc vrrkggpccr qrrekgap
//