CD83 CD83 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD83provided by HGNC
Official Full Name: CD83 moleculeprovided by HGNC
Primary source: HGNC:HGNC:1703
See related: Ensembl:ENSG00000112149 MIM:604534; AllianceGenome:HGNC:1703
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: BL11; HB15
Summary: The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression: Broad expression in bone marrow (RPKM 72.2), lymph node (RPKM 25.8) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p23

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (14117256..14136918)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (13989721..14009378)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (14117487..14137149)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Soluble CD83 modulates human-monocyte-derived macrophages toward alternative phenotype, function, and metabolism.
Title: Soluble CD83 modulates human-monocyte-derived macrophages toward alternative phenotype, function, and metabolism.
Human Effectors of Acute and Chronic GVHD Overexpress CD83 and Predict Mortality.
Title: Human Effectors of Acute and Chronic GVHD Overexpress CD83 and Predict Mortality.
CD83 Regulates the Immune Responses in Inflammatory Disorders.
Title: CD83 Regulates the Immune Responses in Inflammatory Disorders.
The soluble CD83 protein prevents bone destruction by inhibiting the formation of osteoclasts and inducing resolution of inflammation in arthritis.
Title: The soluble CD83 protein prevents bone destruction by inhibiting the formation of osteoclasts and inducing resolution of inflammation in arthritis.
Monocyte Maturation Mediators Upregulate CD83, ICAM-1 and MHC Class 1 Expression on Ewing's Sarcoma, Enhancing T Cell Cytotoxicity.
Title: Monocyte Maturation Mediators Upregulate CD83, ICAM-1 and MHC Class 1 Expression on Ewing's Sarcoma, Enhancing T Cell Cytotoxicity.
Soluble CD83 suppresses experimental food allergy via regulating aberrant T helper 2 responses.
Title: Soluble CD83 suppresses experimental food allergy via regulating aberrant T helper 2 responses.
Contribution of a European-Prevalent Variant near CD83 and an East Asian-Prevalent Variant near IL17RB to Herpes Zoster Risk in Tofacitinib Treatment: Results of Genome-Wide Association Study Meta-Analyses.
Title: Contribution of a European-Prevalent Variant near CD83 and an East Asian-Prevalent Variant near IL17RB to Herpes Zoster Risk in Tofacitinib Treatment: Results of Genome-Wide Association Study Meta-Analyses.
Difference in Presence and Number of CD83(+) Dendritic Cells in Patients with Ulcerative Colitis and Crohn's Disease.
Title: Difference in Presence and Number of CD83(+) Dendritic Cells in Patients with Ulcerative Colitis and Crohn's Disease.
Endogenous Expression of the Human CD83 Attenuates EAE Symptoms in Humanized Transgenic Mice and Increases the Activity of Regulatory T Cells.
Title: Endogenous Expression of the Human CD83 Attenuates EAE Symptoms in Humanized Transgenic Mice and Increases the Activity of Regulatory T Cells.
MHC II ubiquitination by E3 ubiquitin-protein ligase MARCH8 (MARCH8) and CD83 antigen (CD83) plays a critical role in T cell thymic selection [Review].
Title: MARCH ligases in immunity.

Submit: New GeneRIF Correction See all GeneRIFs (66)

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

EBI GWAS Catalog

Description
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD83	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of CD83 (BL11, HB15) in human B cells	PubMed
	env	Inhibition of CpG-B-induced maturation of plasmacytoid dendritic cells by HIV-1 gp120 results in downregulation of CD40, CD83, CCR7, and HLA-DR expression	PubMed
	env	HIV-1 gp120 inhibits TLR9-mediated upregulation of CD83 and the secretion of inflammatory cytokines TNF-alpha and IL-6, and chemokine IP10 in plasmacytoid dendritic cells (pDC)	PubMed
	env	The presence of HIV-1 gp120 inhibits the oral mucosal pathogen Porphyromonas gingivalis-induced CD80, CD83, and CD86 upregulation	PubMed
Nef	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD83	PubMed
	nef	HIV-1 Nef induces upregulation of CD80, CD83, and CD86 protein expression in a concentration dependent fashion in monocyte derived dendritic cells	PubMed
Pr55(Gag)	gag	Expression of CD80, CD83, CD86, and HLA-DR molecules are significantly downregulated in mature dendritic cells after transduction with ubiquitinated Gag compared to unubiquitinated Gag constructs	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of MHC and co-stimulatory molecules CD40, CD80, CD83 and CD86 in monocyte-derived dendritic cells, thereby driving T cell-mediated immune responses	PubMed
Vpr	vpr	HIV-1 Vpr inhibits the expression of co-stimulatory molecules including CD80, CD83, and CD86 at the transcriptional level without altering normal cellular transcription during dendritic cell maturation	PubMed
	vpr	HIV-1 Vpr downregulates the expression of several immunologically important molecules including CD40, CD80, CD83, and CD86 co-stimulatory molecules on monocyte-derived macrophage (MDM) and monocyte-derived dendritic cells (MDDC)	PubMed
Vpu	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD83	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

WI-21167 (e-PCR)
- UniSTS:24329

RH46624 (e-PCR)
- UniSTS:60755

D6S1838 (e-PCR)
- UniSTS:82905

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in CD4-positive, alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in humoral immune response	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of interleukin-4 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of CD4-positive, alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-10 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-2 production	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: CD83 antigen

Names: B-cell activation protein; CD83 antigen (activated B lymphocytes, immunoglobulin superfamily); cell surface protein HB15; cell-surface glycoprotein; hCD83

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_030372.1 RefSeqGene

Range

5517..24651

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040280.3 → NP_001035370.1 CD83 antigen isoform b precursor

See identical proteins and their annotated locations for NP_001035370.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.

Source sequence(s)

AK223315, AL133259, BC030830, DB178710

UniProtKB/Swiss-Prot

Q01151

Conserved Domains (2) summary

smart00410
Location:21 → 126

IG_like; Immunoglobulin like

cl11960
Location:21 → 127

Ig; Immunoglobulin domain
NM_001251901.1 → NP_001238830.1 CD83 antigen isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AL133259, BC030830, DA532022

Consensus CDS

CCDS75403.1

UniProtKB/TrEMBL

A0A087WX61

Related

ENSP00000480760.1, ENST00000612003.5

Conserved Domains (1) summary

cl11960
Location:12 → 60

Ig; Immunoglobulin domain
NM_004233.4 → NP_004224.1 CD83 antigen isoform a precursor

See identical proteins and their annotated locations for NP_004224.1

Status: REVIEWED

Description

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

Source sequence(s)

AL133259, BC030830, DB178710

Consensus CDS

CCDS4532.1

UniProtKB/Swiss-Prot

Q01151, Q5THX9

Related

ENSP00000368450.3, ENST00000379153.4

Conserved Domains (1) summary

cl11960
Location:21 → 127

Ig; Immunoglobulin domain