Human Gene BSG (ENST00000333511.9_5) from GENCODE V47lift37
  Description: basigin (Ok blood group), transcript variant 1 (from RefSeq NM_001728.4)
Gencode Transcript: ENST00000333511.9_5
Gencode Gene: ENSG00000172270.22_13
Transcript (Including UTRs)
   Position: hg19 chr19:572,596-583,493 Size: 10,898 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr19:572,635-582,577 Size: 9,943 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:572,596-583,493)mRNA (may differ from genome)Protein (385 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BASI_HUMAN
DESCRIPTION: RecName: Full=Basigin; AltName: Full=5F7; AltName: Full=Collagenase stimulatory factor; AltName: Full=Extracellular matrix metalloproteinase inducer; Short=EMMPRIN; AltName: Full=Leukocyte activation antigen M6; AltName: Full=OK blood group antigen; AltName: Full=Tumor cell-derived collagenase stimulatory factor; Short=TCSF; AltName: CD_antigen=CD147; Flags: Precursor;
FUNCTION: Plays pivotal roles in spermatogenesis, embryo implantation, neural network formation and tumor progression. Stimulates adjacent fibroblasts to produce matrix metalloproteinases (MMPS). May target monocarboxylate transporters SLC16A1, SLC16A3 and SLC16A8 to plasma membranes of retinal pigment epithelium and neural retina. Seems to be a receptor for oligomannosidic glycans. In vitro, promotes outgrowth of astrocytic processes (By similarity).
SUBUNIT: Forms homooligomers in a cis-dependent manner on the plasma membrane. Forms heterooligomers of isoform 2 and isoform 3. Forms a complex with MMP1 at the tumor cell surface. Interacts with SLC16A1 and SLC1A3; probably a BSG dimer is associated with a monocarboxylate transporter dimer. Interacts with ATP1B2, MAG and L1CAM (By similarity). Interacts with AJAP1.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Melanosome. Note=Colocalizes with SLC16A1 and SLC16A8 (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
TISSUE SPECIFICITY: Present only in vascular endothelium in non- neoplastic regions of the brain, whereas it is present in tumor cells but not in proliferating blood vessels in malignant gliomas.
INDUCTION: Enriched on the surface of tumor cells. Up-regulated in gliomas. Its expression levels correlate with malignant potential of the tumor.
PTM: N-glycosylated.
SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=ok";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/bsg/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BSG
Diseases sorted by gene-association score: brain stem cancer (12), brain stem glioma (10), ameloblastoma (8), accommodative esotropia (7), ascending cholangitis (7), necrotizing ulcerative gingivitis (7), mucolipidosis iii alpha/beta (6), tongue squamous cell carcinoma (6), spinal cord astrocytoma (6), newcastle disease (5), cerebral primitive neuroectodermal tumor (5), extraosseous ewing's sarcoma (4), larynx cancer (3), differentiated thyroid carcinoma (3), hepatocellular carcinoma (2), bladder cancer, somatic (2), ovarian cancer, somatic (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 481.34 RPKM in Heart - Left Ventricle
Total median expression: 9271.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.6039-0.144 Picture PostScript Text
3' UTR -280.30749-0.374 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3B5H - X-ray MuPIT 3I84 - X-ray MuPIT 3I85 - X-ray MuPIT 3QQN - X-ray MuPIT 3QR2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P35613
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0005537 mannose binding
GO:0008028 monocarboxylic acid transmembrane transporter activity
GO:0030246 carbohydrate binding
GO:0045296 cadherin binding

Biological Process:
GO:0006090 pyruvate metabolic process
GO:0007166 cell surface receptor signaling pathway
GO:0007566 embryo implantation
GO:0015718 monocarboxylic acid transport
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043434 response to peptide hormone
GO:0046689 response to mercury ion
GO:0046697 decidualization
GO:0050900 leukocyte migration
GO:0051591 response to cAMP
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0000139 Golgi membrane
GO:0002080 acrosomal membrane
GO:0005739 mitochondrion
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
GO:0042470 melanosome
GO:0043231 intracellular membrane-bounded organelle
GO:0045121 membrane raft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  GU557064 - Homo sapiens basigin isoform 3 (BSG) mRNA, complete cds.
GU557065 - Homo sapiens basigin isoform 4 (BSG) mRNA, complete cds.
AK302231 - Homo sapiens cDNA FLJ61188 complete cds, highly similar to Basigin precursor.
AF548371 - Homo sapiens basigin long isoform (BSG) mRNA, complete cds; alternatively spliced.
X64364 - H.sapiens mRNA for M6 antigen.
AY358113 - Homo sapiens clone DNA173157 EMMPRIN (UNQ6505) mRNA, complete cds.
JD407331 - Sequence 388355 from Patent EP1572962.
JD211174 - Sequence 192198 from Patent EP1572962.
JD462443 - Sequence 443467 from Patent EP1572962.
BC009040 - Homo sapiens basigin (Ok blood group), mRNA (cDNA clone MGC:17700 IMAGE:3867352), complete cds.
AB085790 - Homo sapiens mRNA for CD147, complete cds.
AK297880 - Homo sapiens cDNA FLJ52708 complete cds, highly similar to Basigin precursor.
AK296858 - Homo sapiens cDNA FLJ52516 complete cds, moderately similar to Basigin precursor.
D28441 - Homo sapiens mRNA for basigin, 5'UTR region.
D45131 - Homo sapiens BSG mRNA for basigin, complete cds.
E07941 - cDNA encoding human basigin1.
L20471 - Human extracellular matrix metalloproteinase inducer gene, complete cds.
AB072923 - Homo sapiens mRNA for EMMPRIN, complete cds.
L10240 - Human collagenase stimulatory factor (EMMPRIN) mRNA, complete cds.
AB091680 - Homo sapiens hEMMPRIN mRNA for cervical EMMPRIN, complete cds.
M87879 - Human (5F7) mRNA, complete cds.
AB463434 - Synthetic construct DNA, clone: pF1KB8270, Homo sapiens BSG gene for basigin, without stop codon, in Flexi system.
JF432780 - Synthetic construct Homo sapiens clone IMAGE:100074024 basigin (Ok blood group) (BSG) gene, encodes complete protein.
KJ896510 - Synthetic construct Homo sapiens clone ccsbBroadEn_05904 BSG gene, encodes complete protein.
KR709658 - Synthetic construct Homo sapiens clone CCSBHm_00004943 BSG (BSG) mRNA, encodes complete protein.
AK095912 - Homo sapiens cDNA FLJ38593 fis, clone HEART2000306, highly similar to BASIGIN PRECURSOR.
JD023529 - Sequence 4553 from Patent EP1572962.
JD029422 - Sequence 10446 from Patent EP1572962.
JD023351 - Sequence 4375 from Patent EP1572962.
JD025065 - Sequence 6089 from Patent EP1572962.
JD028937 - Sequence 9961 from Patent EP1572962.
JD035215 - Sequence 16239 from Patent EP1572962.
JD023253 - Sequence 4277 from Patent EP1572962.
JD020760 - Sequence 1784 from Patent EP1572962.
JD023155 - Sequence 4179 from Patent EP1572962.
JD023154 - Sequence 4178 from Patent EP1572962.
JD023156 - Sequence 4180 from Patent EP1572962.
JD023756 - Sequence 4780 from Patent EP1572962.
JD023755 - Sequence 4779 from Patent EP1572962.
JD025900 - Sequence 6924 from Patent EP1572962.
JD031627 - Sequence 12651 from Patent EP1572962.
JD029573 - Sequence 10597 from Patent EP1572962.
JD035461 - Sequence 16485 from Patent EP1572962.
JD157558 - Sequence 138582 from Patent EP1572962.
JD396688 - Sequence 377712 from Patent EP1572962.
JD496317 - Sequence 477341 from Patent EP1572962.
JD209067 - Sequence 190091 from Patent EP1572962.
JD396443 - Sequence 377467 from Patent EP1572962.
JD086286 - Sequence 67310 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P35613 (Reactome details) participates in the following event(s):

R-HSA-204392 Basigin binds MCT1, MCT3 and MCT4
R-HSA-204434 BSG (basigin) binds Integrin alpha3beta1, alpha6beta1
R-HSA-204465 Basigin interacts with CD43
R-HSA-204485 Basigin binds CyPA
R-HSA-204600 Basigin homodimerises
R-HSA-375131 Basigin binds CD98 complex
R-HSA-375133 Basigin binds Mannose-carrying cell recognition molecules
R-HSA-375135 Basigin binds Matrix metalloproteinase-1
R-HSA-204500 CyP60 chaperones Basigin
R-HSA-204549 Caveolin-1 binds Basigin
R-HSA-373867 BSG:MCTs cotransport LACT, H+ from extracellular region to cytosol
R-HSA-373875 BSG:MCTs cotransport LACT, H+ from cytosol to extracellular region
R-HSA-433698 SLC16A1,3,7,8 cotransport monocarboxylates, H+ from extracellular region to cytosol
R-HSA-210991 Basigin interactions
R-HSA-216083 Integrin cell surface interactions
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-1474244 Extracellular matrix organization
R-HSA-70268 Pyruvate metabolism
R-HSA-109582 Hemostasis
R-HSA-71406 Pyruvate metabolism and Citric Acid (TCA) cycle
R-HSA-433692 Proton-coupled monocarboxylate transport
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425471 Bile salt and organic anion SLC transporters
R-HSA-1430728 Metabolism
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJW1, BASI_HUMAN, BSG , D3YLG5, ENST00000333511.1, ENST00000333511.2, ENST00000333511.3, ENST00000333511.4, ENST00000333511.5, ENST00000333511.6, ENST00000333511.7, ENST00000333511.8, NM_001728, P35613, Q7Z796, Q8IZL7, uc317trs.1, uc317trs.2, UNQ6505/PRO21383
UCSC ID: ENST00000333511.9_5
RefSeq Accession: NM_001728.4
Protein: P35613 (aka BASI_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.