BSG basigin (Ok blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: BSGprovided by HGNC
Official Full Name: basigin (Ok blood group)provided by HGNC
Primary source: HGNC:HGNC:1116
See related: Ensembl:ENSG00000172270 MIM:109480; AllianceGenome:HGNC:1116
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: OK; 5F7; TCSF; CD147; EMPRIN; HAb18G; EMMPRIN
Summary: The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]
Expression: Ubiquitous expression in heart (RPKM 230.6), colon (RPKM 194.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (571283..583493)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (525174..537384)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (571283..583493)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CD147 mediates S protein pseudovirus of SARS-CoV-2 infection and its induction of spermatogonia apoptosis.
Title: CD147 mediates S protein pseudovirus of SARS-CoV-2 infection and its induction of spermatogonia apoptosis.
CD147 supports paclitaxel resistance via interacting with RanBP1.
Title: CD147 supports paclitaxel resistance via interacting with RanBP1.
ADAM12-Generated Basigin Ectodomain Binds beta1 Integrin and Enhances the Expression of Cancer-Related Extracellular Matrix Proteins.
Title: ADAM12-Generated Basigin Ectodomain Binds β1 Integrin and Enhances the Expression of Cancer-Related Extracellular Matrix Proteins.
MCT4 and CD147 colocalize with MMP14 in invadopodia and support matrix degradation and invasion by breast cancer cells.
Title: MCT4 and CD147 colocalize with MMP14 in invadopodia and support matrix degradation and invasion by breast cancer cells.
TIE1 promotes cervical cancer progression via Basigin-matrix metalloproteinase axis.
Title: TIE1 promotes cervical cancer progression via Basigin-matrix metalloproteinase axis.
A comprehensive investigation on the receptor BSG expression reveals the potential risk of healthy individuals and cancer patients to 2019-nCoV infection.
Title: A comprehensive investigation on the receptor BSG expression reveals the potential risk of healthy individuals and cancer patients to 2019-nCoV infection.
CD147/Basigin Is Involved in the Development of Malignant Tumors and T-Cell-Mediated Immunological Disorders via Regulation of Glycolysis.
Title: CD147/Basigin Is Involved in the Development of Malignant Tumors and T-Cell-Mediated Immunological Disorders via Regulation of Glycolysis.
Soluble CD147 regulates endostatin via its effects on the activities of MMP-9 and secreted proteasome 20S.
Title: Soluble CD147 regulates endostatin via its effects on the activities of MMP-9 and secreted proteasome 20S.
Potential Alternative Receptors for SARS-CoV-2-Induced Kidney Damage: TLR-4, KIM-1/TIM-1, and CD147.
Title: Potential Alternative Receptors for SARS-CoV-2-Induced Kidney Damage: TLR-4, KIM-1/TIM-1, and CD147.
CircCDK17 promotes the proliferation and metastasis of ovarian cancer cells by sponging miR-22-3p to regulate CD147 expression.
Title: CircCDK17 promotes the proliferation and metastasis of ovarian cancer cells by sponging miR-22-3p to regulate CD147 expression.

Submit: New GeneRIF Correction See all GeneRIFs (566)

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--OK MedGen: C1862209 OMIM: 111380 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	The functional interaction between CD98 and CD147 is involved in the regulation of HIV-1 gp160-mediated cell fusion	PubMed
Tat	tat	Application of HIV-1 Tat transmembrane transport peptide to cells induces PKN1 gene and slightly represses two genes, ZCD1 and BSG	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79940 (e-PCR)
- UniSTS:93076

RH80808 (e-PCR)
- UniSTS:87535

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-mannose binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	HDA more info	PubMed
enables cell-cell adhesion mediator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info
enables virus receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in decidualization	IEA Inferred from Electronic Annotation more info
involved_in dendrite self-avoidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryo implantation	IEA Inferred from Electronic Annotation more info
involved_in endothelial tube morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in neural retina development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neutrophil chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in photoreceptor cell maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of matrix metallopeptidase secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of matrix metallopeptidase secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of viral entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of viral entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in response to mercury ion	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in acrosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: basigin

Names: OK blood group antigen; collagenase stimulatory factor; extracellular matrix metalloproteinase inducer; hepatoma-associated antigen; leukocyte activation antigen M6; tumor cell-derived collagenase stimulatory factor

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

NG_007468.1 RefSeqGene

Range

6272..17169

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_816

mRNA and Protein(s)

NM_001322243.2 → NP_001309172.1 basigin isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variant 2, encodes isoform 2.

Source sequence(s)

AC009005, CB153773, GU557064

Consensus CDS

CCDS12034.1

UniProtKB/TrEMBL

A0A7P0TA85, A0A7P0TB04, Q54A51

Conserved Domains (1) summary

smart00409
Location:112 → 202

IG; Immunoglobulin
NM_001728.4 → NP_001719.2 basigin isoform 1 precursor

See identical proteins and their annotated locations for NP_001719.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AY358113, GU557064

Consensus CDS

CCDS12033.1

UniProtKB/Swiss-Prot

A6NJW1, D3YLG5, P35613, Q7Z796, Q8IZL7

UniProtKB/TrEMBL

B4DNE1

Related

ENSP00000333769.3, ENST00000333511.9

Conserved Domains (2) summary

smart00409
Location:228 → 318

IG; Immunoglobulin

cd20940
Location:23 → 138

Ig0_BSG1; Immunoglobulin-like Ig0 domain of basigin-1 (BSG1) and similar proteins
NM_198589.3 → NP_940991.1 basigin isoform 2 precursor

See identical proteins and their annotated locations for NP_940991.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).

Source sequence(s)

AB085790, GU557064

Consensus CDS

CCDS12034.1

UniProtKB/TrEMBL

A0A7P0TA85, A0A7P0TB04, Q54A51

Related

ENSP00000343809.4, ENST00000353555.9

Conserved Domains (1) summary

smart00409
Location:112 → 202

IG; Immunoglobulin
NM_198590.3 → NP_940992.1 basigin isoform 3

See identical proteins and their annotated locations for NP_940992.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

DA007913, GU557064

Consensus CDS

CCDS58635.1

UniProtKB/TrEMBL

A0A087WUV8

Related

ENSP00000473664.1, ENST00000545507.6

Conserved Domains (2) summary

smart00410
Location:19 → 109

IG_like; Immunoglobulin like

cd00096
Location:11 → 15

Ig; Ig strand A [structural motif]
NM_198591.4 → NP_940993.2 basigin isoform 3

Status: REVIEWED

Source sequence(s)

AC009005, GU557065

Consensus CDS

CCDS58635.1

UniProtKB/TrEMBL

A0A087WUV8

Related

ENSP00000344707.4, ENST00000346916.9

Conserved Domains (2) summary

smart00410
Location:19 → 109

IG_like; Immunoglobulin like

cd00096
Location:11 → 15

Ig; Ig strand A [structural motif]