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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19q13.32

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (44809059..44821421)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (47633808..47646153)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45312316..45324678)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Basal cell adhesion molecule promotes metastasis-associated processes in ovarian cancer.
Title: Basal cell adhesion molecule promotes metastasis-associated processes in ovarian cancer.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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	Compare labs

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 EBI GWAS CatalogPubMed
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH91124 (e-PCR)
- UniSTS:84746

RH121966 (e-PCR)
- UniSTS:95014

RH91463 (e-PCR)
- UniSTS:87849

RH81078 (e-PCR)
- UniSTS:86716

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 more info	PubMed
located_in external side of plasma membrane	IC Inferred by Curator more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_007480.1 RefSeqGene

Range

4979..17341

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_798

mRNA and Protein(s)

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
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