PECAM1 platelet and endothelial cell adhesion molecule 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PECAM1provided by HGNC
Official Full Name: platelet and endothelial cell adhesion molecule 1provided by HGNC
Primary source: HGNC:HGNC:8823
See related: Ensembl:ENSG00000261371 MIM:173445; AllianceGenome:HGNC:8823
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: CD31; PECA1; GPIIA'; PECAM-1; endoCAM; CD31/EndoCAM
Summary: The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large portion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]
Expression: Broad expression in placenta (RPKM 145.1), lung (RPKM 87.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (64319415..64390860, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (65189155..65283610, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (62396775..62404856, complement)

Chromosome 17 - NC_000017.11 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
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?

CD31 defines a subpopulation of human adipose-derived regenerative cells with potent angiogenic effects.
Title: CD31 defines a subpopulation of human adipose-derived regenerative cells with potent angiogenic effects.
PECAM-1 drives beta-catenin-mediated EndMT via internalization in colon cancer with diabetes mellitus.
Title: PECAM-1 drives β-catenin-mediated EndMT via internalization in colon cancer with diabetes mellitus.
CD31 as a probable responding and gate-keeping protein of the blood-brain barrier and the risk of Alzheimer's disease.
Title: CD31 as a probable responding and gate-keeping protein of the blood-brain barrier and the risk of Alzheimer's disease.
Elevated shear rate-induced by exercise increases eNOS ser[1177] but not PECAM-1 Tyr[713] phosphorylation in human conduit artery endothelial cells.
Title: Elevated shear rate-induced by exercise increases eNOS ser(1177) but not PECAM-1 Tyr(713) phosphorylation in human conduit artery endothelial cells.
Colon tumor CD31 expression is associated with higher disease-free survival in patients with metabolic syndrome.
Title: Colon tumor CD31 expression is associated with higher disease-free survival in patients with metabolic syndrome.
Immunohistochemical analysis of CD31 expression in myocardial tissues from autopsies of patients with ischemic heart disease.
Title: Immunohistochemical analysis of CD31 expression in myocardial tissues from autopsies of patients with ischemic heart disease.
The expression pattern of CD10 and CD31 identifies fine fibrovascular stroma of grade 1-endometrial endometrioid carcinomas in cytology.
Title: The expression pattern of CD10 and CD31 identifies fine fibrovascular stroma of grade 1-endometrial endometrioid carcinomas in cytology.
Atomic Level Dissection of the Platelet Endothelial Cell Adhesion Molecule 1 (PECAM-1) Homophilic Binding Interface: Implications for Endothelial Cell Barrier Function.
Title: Atomic Level Dissection of the Platelet Endothelial Cell Adhesion Molecule 1 (PECAM-1) Homophilic Binding Interface: Implications for Endothelial Cell Barrier Function.
Characterization of CD31 expression in CD4+ and CD8+T cell subpopulations in chronic untreated HIV infection.
Title: Characterization of CD31 expression in CD4+ and CD8+T cell subpopulations in chronic untreated HIV infection.
Rare PECAM1 variants in three families with lymphedema.
Title: Rare PECAM1 variants in three families with lymphedema.

Submit: New GeneRIF Correction See all GeneRIFs (243)

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
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat enhances vIL-6-induced angiogenesis and tumorigenesis of fibroblasts and human endothelial cells, which correlates with upregulation of CD31, CD34, SMA, VEGF, b-FGF, and cyclin D1 expression	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of platelet/endothelial cell adhesion molecule 1 (PECAM1, PECA1) expression by HIV-1 Vpr in Vpr transduced macrophages	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

D11S2921 (e-PCR)
- UniSTS:152074

D17S1992 (e-PCR)
- UniSTS:4633

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-146770 (e-PCR)
- UniSTS:175421

PECAM1_1262 (e-PCR)
- UniSTS:462401

PECAM1_v371 (e-PCR)
- UniSTS:462401

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

RH11535 (e-PCR)
- UniSTS:50805

RH11719 (e-PCR)
- UniSTS:33698

G44352 (e-PCR)
- UniSTS:95139

G60155 (e-PCR)
- UniSTS:137410

RH17926 (e-PCR)
- UniSTS:60870

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell recognition	TAS Traceable Author Statement more info	PubMed
involved_in cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in diapedesis	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glomerular endothelium development	IEP Inferred from Expression Pattern more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in leukocyte cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in monocyte extravasation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neutrophil extravasation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	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 cell-cell junction	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	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in platelet alpha granule membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: platelet endothelial cell adhesion molecule

Names: CD31 antigen; platelet endothelial cell adhesion molecule-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.

Genomic

NG_047009.1 RefSeqGene

Range

27942..99387

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000442.5 → NP_000433.4 platelet endothelial cell adhesion molecule precursor

See identical proteins and their annotated locations for NP_000433.4

Status: REVIEWED

Source sequence(s)

AC016489, AF281298, BC051822

Consensus CDS

CCDS74132.1

UniProtKB/Swiss-Prot

A0A075B738, A8K3S7, D3DU31, P16284, Q6LDA9, Q8TBH1, Q96RF5, Q96RF6, Q9NP65, Q9NPB7, Q9NPG9, Q9NQS9, Q9NQT0, Q9NQT1, Q9NQT2

UniProtKB/TrEMBL

B7Z8Y6

Related

ENSP00000457421.1, ENST00000563924.6

Conserved Domains (2) summary

smart00410
Location:43 → 127

IG_like; Immunoglobulin like

pfam13895
Location:327 → 404

Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

64319415..64390860 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024741.2 → XP_016880230.1 platelet endothelial cell adhesion molecule isoform X7

UniProtKB/TrEMBL

B7Z8Y6
XM_047436251.1 → XP_047292207.1 platelet endothelial cell adhesion molecule isoform X5
XM_017024739.2 → XP_016880228.1 platelet endothelial cell adhesion molecule isoform X2

UniProtKB/TrEMBL

B7Z8Y6
XM_005276883.3 → XP_005276940.1 platelet endothelial cell adhesion molecule isoform X6

UniProtKB/TrEMBL

B7Z8Y6

Conserved Domains (4) summary

smart00410
Location:43 → 127

IG_like; Immunoglobulin like

pfam13895
Location:328 → 404

Ig_2; Immunoglobulin domain

pfam13927
Location:507 → 576

Ig_3; Immunoglobulin domain

cl11960
Location:43 → 127

Ig; Immunoglobulin domain
XM_005276882.2 → XP_005276939.1 platelet endothelial cell adhesion molecule isoform X4

UniProtKB/TrEMBL

B7Z8Y6

Conserved Domains (4) summary

smart00410
Location:43 → 127

IG_like; Immunoglobulin like

pfam13895
Location:328 → 404

Ig_2; Immunoglobulin domain

pfam13927
Location:507 → 576

Ig_3; Immunoglobulin domain

cl11960
Location:43 → 127

Ig; Immunoglobulin domain
XM_005276881.2 → XP_005276938.1 platelet endothelial cell adhesion molecule isoform X3

UniProtKB/TrEMBL

B7Z8Y6

Conserved Domains (4) summary

smart00410
Location:43 → 127

IG_like; Immunoglobulin like

pfam13895
Location:328 → 404

Ig_2; Immunoglobulin domain

pfam13927
Location:507 → 576

Ig_3; Immunoglobulin domain

cl11960
Location:43 → 127

Ig; Immunoglobulin domain
XM_005276880.2 → XP_005276937.1 platelet endothelial cell adhesion molecule isoform X1

UniProtKB/TrEMBL

B7Z8Y6

Conserved Domains (4) summary

smart00410
Location:43 → 127

IG_like; Immunoglobulin like

pfam13895
Location:328 → 404

Ig_2; Immunoglobulin domain

pfam13927
Location:507 → 576

Ig_3; Immunoglobulin domain

cl11960
Location:43 → 127

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

65189155..65283610 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316422.1 → XP_054172397.1 platelet endothelial cell adhesion molecule isoform X8
XM_054316432.1 → XP_054172407.1 platelet endothelial cell adhesion molecule isoform X3
XM_054316442.1 → XP_054172417.1 platelet endothelial cell adhesion molecule isoform X6
XM_054316437.1 → XP_054172412.1 platelet endothelial cell adhesion molecule isoform X4
XM_054316433.1 → XP_054172408.1 platelet endothelial cell adhesion molecule isoform X3
XM_054316427.1 → XP_054172402.1 platelet endothelial cell adhesion molecule isoform X1
XM_054316421.1 → XP_054172396.1 platelet endothelial cell adhesion molecule isoform X8
XM_054316423.1 → XP_054172398.1 platelet endothelial cell adhesion molecule isoform X8
XM_054316438.1 → XP_054172413.1 platelet endothelial cell adhesion molecule isoform X4
XM_054316428.1 → XP_054172403.1 platelet endothelial cell adhesion molecule isoform X1
XM_054316430.1 → XP_054172405.1 platelet endothelial cell adhesion molecule isoform X2
XM_054316434.1 → XP_054172409.1 platelet endothelial cell adhesion molecule isoform X3
XM_054316424.1 → XP_054172399.1 platelet endothelial cell adhesion molecule isoform X8
XM_054316429.1 → XP_054172404.1 platelet endothelial cell adhesion molecule isoform X1
XM_054316431.1 → XP_054172406.1 platelet endothelial cell adhesion molecule isoform X2
XM_054316439.1 → XP_054172414.1 platelet endothelial cell adhesion molecule isoform X4
XM_054316435.1 → XP_054172410.1 platelet endothelial cell adhesion molecule isoform X3
XM_054316441.1 → XP_054172416.1 platelet endothelial cell adhesion molecule isoform X7
XM_054316436.1 → XP_054172411.1 platelet endothelial cell adhesion molecule isoform X5
XM_054316426.1 → XP_054172401.1 platelet endothelial cell adhesion molecule isoform X2
XM_054316440.1 → XP_054172415.1 platelet endothelial cell adhesion molecule isoform X6
XM_054316425.1 → XP_054172400.1 platelet endothelial cell adhesion molecule isoform X1