CD274 CD274 molecule [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD274provided by HGNC
Official Full Name: CD274 moleculeprovided by HGNC
Primary source: HGNC:HGNC:17635
See related: Ensembl:ENSG00000120217 MIM:605402; AllianceGenome:HGNC:17635
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: B7-H; B7H1; PDL1; PD-L1; hPD-L1; PDCD1L1; PDCD1LG1
Summary: This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Expression: Broad expression in appendix (RPKM 6.7), placenta (RPKM 4.5) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9p24.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (5450542..5470554)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (5455669..5475674)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (5450542..5470554)

Chromosome 9 - NC_000009.12 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
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?

Tumour-intrinsic PDL1 signals regulate the Chk2 DNA damage response in cancer cells and mediate resistance to Chk1 inhibitors.
Title: Tumour-intrinsic PDL1 signals regulate the Chk2 DNA damage response in cancer cells and mediate resistance to Chk1 inhibitors.
PAK4 Is Involved in the Stabilization of PD-L1 and the Resistance to Doxorubicin in Osteosarcoma and Predicts the Survival of Diagnosed Patients.
Title: PAK4 Is Involved in the Stabilization of PD-L1 and the Resistance to Doxorubicin in Osteosarcoma and Predicts the Survival of Diagnosed Patients.
The Immune Checkpoint Protein PD-L1 Regulates Ciliogenesis and Hedgehog Signaling.
Title: The Immune Checkpoint Protein PD-L1 Regulates Ciliogenesis and Hedgehog Signaling.
Pan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich Syndrome Protein as a Potential Regulator of Programmed Death-Ligand 1.
Title: Pan-Cancer Proteomics Analysis Reveals Wiskott-Aldrich Syndrome Protein as a Potential Regulator of Programmed Death-Ligand 1.
Mechanistic study of PD-L1 regulation of metastatic proliferation in non-small cell lung cancer through modulation of IRE1alpha/XBP-1 signaling pathway in tumor-associated macrophages.
Title: Mechanistic study of PD-L1 regulation of metastatic proliferation in non-small cell lung cancer through modulation of IRE1α/XBP-1 signaling pathway in tumor-associated macrophages.
Programmed death-ligand 1 expression in patients with primary or secondary myelofibrosis.
Title: Programmed death-ligand 1 expression in patients with primary or secondary myelofibrosis.
PD-L1 expression in testicular germ cell tumors undergoing spontaneous regression.
Title: PD-L1 expression in testicular germ cell tumors undergoing spontaneous regression.
RNAi mediated silencing of STAT3/PD-L1 in tumor-associated immune cells induces robust anti-tumor effects in immunotherapy resistant tumors.
Title: RNAi mediated silencing of STAT3/PD-L1 in tumor-associated immune cells induces robust anti-tumor effects in immunotherapy resistant tumors.
Unveiling the immunoregulatory role of interferon-induced transmembrane protein 2 through the JAK/STAT3/PDL1 pathway in gastric cancer.
Title: Unveiling the immunoregulatory role of interferon-induced transmembrane protein 2 through the JAK/STAT3/PDL1 pathway in gastric cancer.
ELAVL1 regulates PD-L1 mRNA stability to disrupt the infiltration of CD4-positive T cells in prostate cancer.
Title: ELAVL1 regulates PD-L1 mRNA stability to disrupt the infiltration of CD4-positive T cells in prostate cancer.

Submit: New GeneRIF Correction See all GeneRIFs (2582)

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

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 gp120	env	The low mannose-level gp120 induces higher activation of plasmacytoid dendritic cells by upregulation of IFN-alpha, PD-L1, CD40, CCR7, CD80, and CD86 than the high mannose-level gp120 does	PubMed
Tat	tat	HIV-1 Tat-induced upregulation of PD-L1 on monocyte-derived dendritic cells involves a TNF-alpha-mediated mechanism through the TLR4 pathway	PubMed
	tat	The N-terminal domain (residues 1-45) of HIV-1 Tat is required for the Tat-induced upregulation of PD-L1 in monocyte-derived dendritic cells	PubMed
	tat	HIV-1 Tat upregulates the expression of PD-L1 on the surface of dendritic cells and monocyte-derived dendritic cells	PubMed
	tat	HIV-1 Tat-induced upregulation of B7-H1 protein expression requires activation of the ERK/MAPK signaling pathway in human endothelial cells	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

RH92039 (e-PCR)
- UniSTS:89611

RH78877 (e-PCR)
- UniSTS:19525

PDCD1LG1_2379 (e-PCR)
- UniSTS:280902

SHGC-83529 (e-PCR)
- UniSTS:101741

NoName (e-PCR)
- UniSTS:481934

RH45176 (e-PCR)
- UniSTS:1448

NoName (e-PCR)
- UniSTS:481761

NoName (e-PCR)
- UniSTS:486119

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell costimulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell costimulation	IDA Inferred from Direct Assay more info	PubMed
involved_in TRIF-dependent toll-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of CD4-positive, alpha-beta T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of CD8-positive, alpha-beta T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of CD8-positive, alpha-beta T cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell mediated immune response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell mediated immune response to tumor cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of activated T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-10 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of tumor necrosis factor superfamily cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-10 production	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of T cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of activated CD4-positive, alpha-beta T cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of activated T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cytokine	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in early endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
NOT is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: programmed cell death 1 ligand 1

Names: B7 homolog 1; CD274 antigen; PDCD1 ligand 1

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.

mRNA and Protein(s)

NM_001267706.2 → NP_001254635.1 programmed cell death 1 ligand 1 isoform b precursor

See identical proteins and their annotated locations for NP_001254635.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.

Source sequence(s)

AI826502, AL162253, AY291313, DQ836393

Consensus CDS

CCDS59118.1

UniProtKB/Swiss-Prot

Q9NZQ7

UniProtKB/TrEMBL

Q0GN75

Related

ENSP00000370985.4, ENST00000381573.8

Conserved Domains (2) summary

cd00096
Location:24 → 29

Ig; Ig strand A [structural motif]

cl11960
Location:24 → 97

Ig; Immunoglobulin domain
NM_001314029.2 → NP_001300958.1 programmed cell death 1 ligand 1 isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and novel 3' UTR compared to variant 1. It encodes isoform c which is shorter than and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AA399416, DB160805, DQ836393

UniProtKB/TrEMBL

Q0GN75

Conserved Domains (2) summary

smart00410
Location:24 → 130

IG_like; Immunoglobulin like

cl11960
Location:66 → 114

Ig; Immunoglobulin domain
NM_014143.4 → NP_054862.1 programmed cell death 1 ligand 1 isoform a precursor

See identical proteins and their annotated locations for NP_054862.1

Status: REVIEWED

Description

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

Source sequence(s)

AI826502, AK314567, AL162253

Consensus CDS

CCDS6464.1

UniProtKB/Swiss-Prot

B2RBA2, B4DU27, Q14CJ2, Q2V8D5, Q66RK1, Q6WEX4, Q9NUZ5, Q9NZQ7

Related

ENSP00000370989.3, ENST00000381577.4

Conserved Domains (1) summary

cl11960
Location:54 → 117

Ig; Immunoglobulin domain

RNA

NR_052005.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI826502, AL162253, AY714881, DQ836393