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

    Gene ID: 5175, updated on 2-Nov-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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    See PECAM1 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64319415..64390860, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65189155..65283610, complement)
    RS_2024_09 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 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. The unfolding tale of PECAM-1. Jackson DE. FEBS Lett, 2003 Apr 10. PMID 12681475
    2. Platelet endothelial cell adhesion molecule-1 and angiogenic factor expression in idiopathic membranous nephropathy. Sivridis E, et al. Am J Kidney Dis, 2003 Feb. PMID 12552497
    3. [Association of platelet endothelial cell adhesion molecule-1 gene polymorphism with coronary heart disease]. Song FC, et al. Di Yi Jun Yi Da Xue Xue Bao, 2003 Feb. PMID 12581968
    4. Targeted recycling of PECAM from endothelial surface-connected compartments during diapedesis. Mamdouh Z, et al. Nature, 2003 Feb 13. PMID 12610627
    5. Modulation of PECAM-1 expression and alternative splicing during differentiation and activation of hematopoietic cells. Wang Y, et al. J Cell Biochem, 2003 Apr 1. PMID 12616538

    See all (335) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Increased shedding of PECAM-1 associated with elevated serum MMP-14 levels as new blood indicators of dengue disease manifestation.
      Title: Increased shedding of PECAM-1 associated with elevated serum MMP-14 levels as new blood indicators of dengue disease manifestation.
    2. Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels.
      Title: Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels.
    3. Effects of Nox4 upregulation on PECAM-1 expression in a mouse model of diabetic retinopathy.
      Title: Effects of Nox4 upregulation on PECAM-1 expression in a mouse model of diabetic retinopathy.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (246)

    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)

    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_2024_08

    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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