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

Gene ID: 5175, updated on 3-Apr-2024

Summary

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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

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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_000017.11Genomic Context describing neighboring genes Neighboring gene testis expressed 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62293569-62294401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62294402-62295233 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62317605-62317814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8841 Neighboring gene Sharpr-MPRA regulatory region 13166 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62398397-62398608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12589 Neighboring gene ribosomal protein L31 pseudogene 57 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62469307-62469807 Neighboring gene mast cell immunoglobulin like receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62486099-62486273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62492349-62493208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12594 Neighboring gene ATP synthase membrane subunit f pseudogene 4 Neighboring gene DNA polymerase gamma 2, accessory subunit Neighboring gene microRNA 3064 Neighboring gene DEAD-box helicase 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. CD31 as a probable responding and gate-keeping protein of the blood-brain barrier and the risk of Alzheimer's disease. Zhang Z, et al. J Cereb Blood Flow Metab, 2023 Jul. PMID 37051650, Free PMC Article
  2. Colon tumor CD31 expression is associated with higher disease-free survival in patients with metabolic syndrome. Silva A, et al. Pathol Res Pract, 2022 Dec. PMID 36327819
  3. Immunohistochemical analysis of CD31 expression in myocardial tissues from autopsies of patients with ischemic heart disease. Kondo T, et al. Leg Med (Tokyo), 2022 Nov. PMID 35917764
  4. Atomic Level Dissection of the Platelet Endothelial Cell Adhesion Molecule 1 (PECAM-1) Homophilic Binding Interface: Implications for Endothelial Cell Barrier Function. Liao D, et al. Arterioscler Thromb Vasc Biol, 2022 Feb. PMID 34937389, Free PMC Article
  5. Characterization of CD31 expression in CD4+ and CD8+T cell subpopulations in chronic untreated HIV infection. Briceño O, et al. Immunol Lett, 2021 Jul. PMID 33852965

See all (330) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34100, FLJ58394

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 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

  1. NG_047009.1 RefSeqGene

    Range
    27942..99387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    64319415..64390860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B7Z8Y6

  2. XM_047436251.1 → XP_047292207.1  platelet endothelial cell adhesion molecule isoform X5

  3. XM_017024739.2 → XP_016880228.1  platelet endothelial cell adhesion molecule isoform X2

    UniProtKB/TrEMBL
    B7Z8Y6

  4. 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

  5. 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

  6. 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

  7. 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

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    65189155..65283610 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316422.1 → XP_054172397.1  platelet endothelial cell adhesion molecule isoform X8

  2. XM_054316432.1 → XP_054172407.1  platelet endothelial cell adhesion molecule isoform X3

  3. XM_054316442.1 → XP_054172417.1  platelet endothelial cell adhesion molecule isoform X6

  4. XM_054316437.1 → XP_054172412.1  platelet endothelial cell adhesion molecule isoform X4

  5. XM_054316433.1 → XP_054172408.1  platelet endothelial cell adhesion molecule isoform X3

  6. XM_054316427.1 → XP_054172402.1  platelet endothelial cell adhesion molecule isoform X1

  7. XM_054316421.1 → XP_054172396.1  platelet endothelial cell adhesion molecule isoform X8

  8. XM_054316423.1 → XP_054172398.1  platelet endothelial cell adhesion molecule isoform X8

  9. XM_054316438.1 → XP_054172413.1  platelet endothelial cell adhesion molecule isoform X4

  10. XM_054316428.1 → XP_054172403.1  platelet endothelial cell adhesion molecule isoform X1

  11. XM_054316430.1 → XP_054172405.1  platelet endothelial cell adhesion molecule isoform X2

  12. XM_054316434.1 → XP_054172409.1  platelet endothelial cell adhesion molecule isoform X3

  13. XM_054316424.1 → XP_054172399.1  platelet endothelial cell adhesion molecule isoform X8

  14. XM_054316429.1 → XP_054172404.1  platelet endothelial cell adhesion molecule isoform X1

  15. XM_054316431.1 → XP_054172406.1  platelet endothelial cell adhesion molecule isoform X2

  16. XM_054316439.1 → XP_054172414.1  platelet endothelial cell adhesion molecule isoform X4

  17. XM_054316435.1 → XP_054172410.1  platelet endothelial cell adhesion molecule isoform X3

  18. XM_054316441.1 → XP_054172416.1  platelet endothelial cell adhesion molecule isoform X7

  19. XM_054316436.1 → XP_054172411.1  platelet endothelial cell adhesion molecule isoform X5

  20. XM_054316426.1 → XP_054172401.1  platelet endothelial cell adhesion molecule isoform X2

  21. XM_054316440.1 → XP_054172415.1  platelet endothelial cell adhesion molecule isoform X6

  22. XM_054316425.1 → XP_054172400.1  platelet endothelial cell adhesion molecule isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P16284.2 GenPept UniProtKB/Swiss-Prot:P16284

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