BCAM
Basal cell adhesion molecule
Also known as: BCAM_HUMAN, CD239, LU
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P50895
- Gene
- BCAM
- Ensembl
- ENSG00000187244
- Chromosome
- 19
- Canonical length
- 628 aa
- Protein class
- Blood group antigen proteins, CD markers, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoli fibrillar center
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
628 residues, UniProt reviewed canonical sequence.
>P50895|BCAM
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 QRREKGAPPP GEPGLSHSGS
601 EQPEQTGLLM GGASGGARGG SGGFGDECLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BCAM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 346 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 346 nTPM
- kidney: 339 nTPM
- thyroid gland: 219 nTPM
- prostate: 139 nTPM
- heart muscle: 131 nTPM
- breast: 127 nTPM
Single-cell type
- cytotrophoblasts: 899 nCPM
- vascular smooth muscle cells: 539 nCPM
- fallopian secretory cells: 492 nCPM
- syncytiotrophoblasts: 485 nCPM
- breast myoepithelial cells: 472 nCPM
- migrating cytotrophoblasts: 407 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 55 nTPM
- hypothalamus: 33 nTPM
- thalamus: 33 nTPM
- midbrain: 32 nTPM
- medulla oblongata: 30 nTPM
- pons: 30 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BCAM.
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 158 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- BLOOD GROUP--LUTHERAN NULL
- BLOOD GROUP--LUTHERAN SYSTEM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.84
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.25
- DepMap mean gene effect
- 0.16
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Immunoglobulin-like domain
- Immunoglobulin V-set domain
- CD80-like, immunoglobulin C2-set
- Immunoglobulin-like fold
- Immunoglobulin-like domain superfamily
- Cell Surface Receptors and Adhesion Molecules
- Immunoglobulin V-set domain
- CD80-like C2-set immunoglobulin domain
- Immunoglobulin domain
- Immunoglobulin domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BCAM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BCAM as an antibody target. Whether an autoantibody or antibody against BCAM could matter depends on whether native BCAM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BCAM is annotated at the cell surface, where native BCAM is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label BCAM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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