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

Gene ID: 4059, updated on 5-Nov-2017
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; Vega:OTTHUMG00000180838
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; CD239; MSK19
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]
Orthologs
Location:
19q13.32
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (44809059..44821421)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45312316..45324678)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene B-cell CLL/lymphoma 3 Neighboring gene microRNA 8085 Neighboring gene Cbl proto-oncogene C Neighboring gene nectin cell adhesion molecule 2 Neighboring gene translocase of outer mitochondrial membrane 40

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

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

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
laminin binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
laminin receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein C-terminus binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IC
Inferred by Curator
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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)

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_001013257.2NP_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/Swiss-Prot
    P50895
    UniProtKB/TrEMBL
    A0A087WXM8
    Related
    ENSP00000481153.1, ENST00000611077.4
    Conserved Domains (5) summary
    smart00408
    Location:283341
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:280358
    IG_like; Immunoglobulin like
    pfam08205
    Location:151248
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13895
    Location:373444
    Ig_2; Immunoglobulin domain
    cl11960
    Location:466530
    Ig; Immunoglobulin domain
  2. NM_005581.4NP_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
    P50895
    Related
    ENSP00000270233.5, OTTHUMP00000265436, ENST00000270233.10, OTTHUMT00000453220
    Conserved Domains (5) summary
    smart00408
    Location:377427
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:280358
    IG_like; Immunoglobulin like
    pfam08205
    Location:151248
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:464526
    Ig_3; Immunoglobulin domain
    cl11960
    Location:37143
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    45315022..45327384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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