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    BCAM basal cell adhesion molecule (Lutheran blood group) [ Homo sapiens (human) ]

    Gene ID: 4059, updated on 3-Nov-2024

    Summary

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    Official Symbol
    BCAMprovided by HGNC
    Official Full Name
    basal cell adhesion molecule (Lutheran blood group)provided by HGNC
    Primary source
    HGNC:HGNC:6722
    See related
    Ensembl:ENSG00000187244 MIM:612773; AllianceGenome:HGNC:6722
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AU; LU; B-CAM; CD239; MSK19; F8/G253
    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]
    Expression
    Broad expression in kidney (RPKM 99.8), prostate (RPKM 62.6) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BCAM in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44809059..44821421)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47633808..47646153)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45312316..45324678)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14772 Neighboring gene Cbl proto-oncogene C Neighboring gene MPRA-validated peak3507 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45315534-45316080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45316732-45317264 Neighboring gene Sharpr-MPRA regulatory region 5395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45351264-45352246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45353716-45354627 Neighboring gene nectin cell adhesion molecule 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45382143-45382992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45382993-45383842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45383843-45384692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45388007-45388506 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45388826-45389326 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45393067-45393568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10744 Neighboring gene translocase of outer mitochondrial membrane 40

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular structure of the extracellular region of Lutheran blood group glycoprotein and location of the laminin binding site. Burton NM, et al. Blood Cells Mol Dis, 2008 May-Jun. PMID 18302987
    2. Soluble Lutheran/basal cell adhesion molecule is detectable in plasma of hepatocellular carcinoma patients and modulates cellular interaction with laminin-511 in vitro. Kikkawa Y, et al. Exp Cell Res, 2014 Oct 15. PMID 25051049
    3. The molecular basis of the LU:7 and LU:-7 phenotypes. Hue-Roye K, et al. Immunohematology, 2012. PMID 23421542
    4. Combining phenotypic and proteomic approaches to identify membrane targets in a 'triple negative' breast cancer cell type. Rust S, et al. Mol Cancer, 2013 Feb 13. PMID 23406016, Free PMC Article
    5. A new method for quantitative analysis of cell surface glycoproteome. Sun Z, et al. Proteomics, 2012 Nov. PMID 23001842

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Basal cell adhesion molecule promotes metastasis-associated processes in ovarian cancer.
      Title: Basal cell adhesion molecule promotes metastasis-associated processes in ovarian cancer.
    2. Cell trajectory modeling identifies a primitive trophoblast state defined by BCAM enrichment.
      Title: Cell trajectory modeling identifies a primitive trophoblast state defined by BCAM enrichment.
    3. Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
      Title: Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
    4. Upregulation of BCAM and its sense lncRNA BAN are associated with gastric cancer metastasis and poor prognosis.
      Title: Upregulation of BCAM and its sense lncRNA BAN are associated with gastric cancer metastasis and poor prognosis.
    5. Lutheran (Lu)/Basal cell adhesion molecule (BCAM) regulates the morphogenesis of DR depending on liver disease models.
      Title: Differential expression of Lutheran/BCAM regulates biliary tissue remodeling in ductular reaction during liver regeneration.
    6. Lu/BCAM-mediated binding to laminin-alpha5 is restricted by interacting, in cis, with glycophorin-C-derived sialic acid residues.
      Title: Glycophorin-C sialylation regulates Lu/BCAM adhesive capacity during erythrocyte aging.
    7. Lu expression by erythrocytes from patients with myeloproliferative neoplasms and splanchnic venous thrombosi is significantly increased compared to erythrocytes from healthy individuals
      Title: Erythrocytes from patients with myeloproliferative neoplasms and splanchnic venous thrombosis show greater expression of Lu/BCAM.
    8. This is the first report showing that Lu/BCAM, in the presence of its ligand laminin, is oncogenic in human urothelial cancers and may have potential as a novel therapeutic target.
      Title: The role of Lutheran/basal cell adhesion molecule in human bladder carcinogenesis.
    9. data show that the BCAM/LAMA5 system plays a functional role in the metastatic spreading of KRAS-mutant colorectal cancer
      Title: BCAM and LAMA5 Mediate the Recognition between Tumor Cells and the Endothelium in the Metastatic Spreading of KRAS-Mutant Colorectal Cancer.
    10. The serum levels of IL-8, MIP-1 alpha, MIP-1 beta, MMP-8, Resistin, FLRG, and BCAM were significantly higher in breast cancer patients, but LAP and TSH-beta levels were lower.
      Title: Serum cytokine profile in patients with breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    BLOOD GROUP--LUTHERAN SYSTEM
    MedGen: C0024171 OMIM: 111200 GeneReviews: Not available
    		not available
    LuLu phenotype
    MedGen: C1292230 OMIM: 247420 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables laminin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables laminin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables laminin receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in external side of plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    basal cell adhesion molecule
    Names
    Auberger b antigen
    B-CAM cell surface glycoprotein
    B-cell adhesion molecule
    F8/G253 antigen
    Lutheran blood group variant LUGA
    basal cell adhesion molecule (Lu and Au blood groups)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007480.1 RefSeqGene

      Range
      4979..17341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_798

    mRNA and Protein(s)

    1. NM_001013257.2 → NP_001013275.1  basal cell adhesion molecule isoform 2 precursor

      See identical proteins and their annotated locations for NP_001013275.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an additional segment in its 3' coding region, which results in an early stop codon, compared to variant 1. The encoded isoform (2) is shorter at the C-terminus, compared to isoform 1. The full-length nature of this variant is supported by data in PMIDs 8781446 and 9192786.
      Source sequence(s)
      AC092306, BM985314, BP352029, X80026, X83425
      Consensus CDS
      CCDS42575.1
      UniProtKB/TrEMBL
      A0A087WXM8, A0A1A9C7B7
      Related
      ENSP00000481153.1, ENST00000611077.5
      Conserved Domains (5) summary
      smart00408
      Location:283 → 341
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:280 → 358
      IG_like; Immunoglobulin like
      pfam08205
      Location:151 → 248
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13895
      Location:373 → 444
      Ig_2; Immunoglobulin domain
      cl11960
      Location:466 → 530
      Ig; Immunoglobulin domain

    2. NM_005581.5 → NP_005572.2  basal cell adhesion molecule isoform 1 precursor

      See identical proteins and their annotated locations for NP_005572.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      BC050450, BM985314, BP352029
      Consensus CDS
      CCDS12644.1
      UniProtKB/Swiss-Prot
      A8MYF9, A9YWT5, A9YWT6, P50895, Q86VC7
      UniProtKB/TrEMBL
      A0A0A1TTQ0, G0TQY6, I7KDP0, I7L574
      Related
      ENSP00000270233.5, ENST00000270233.12
      Conserved Domains (5) summary
      smart00408
      Location:377 → 427
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:280 → 358
      IG_like; Immunoglobulin like
      pfam08205
      Location:151 → 248
      C2-set_2; CD80-like C2-set immunoglobulin domain
      pfam13927
      Location:464 → 526
      Ig_3; Immunoglobulin domain
      cl11960
      Location:37 → 143
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      44809059..44821421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47633808..47646153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50895.2 GenPept UniProtKB/Swiss-Prot:P50895

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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