• Gene id: 5175

Gene Summary

• Gene Symbol: PECAM1   Gene   UCSC   Ensembl
• Aliases: CD31, CD31/EndoCAM, GPIIA', PECA1, PECAM-1, endoCAM
• Gene name: platelet and endothelial cell adhesion molecule 1
• Alternate names: platelet endothelial cell adhesion molecule, CD31 antigen, platelet endothelial cell adhesion molecule-1,
• Gene location: 17q23.3 (64413843: 64319414)     Exons: 19     NC_000017.11
• Gene summary(Entrez): 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 super
• OMIM: 609510

SNPs

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

Protein Summary

• Protein general information: P16284  
  • Name: Platelet endothelial cell adhesion molecule (PECAM 1) (EndoCAM) (GPIIA') (PECA1) (CD antigen CD31)
  • Length: 738  
  • Mass: 82522
  • Tissue specificity: Expressed on platelets and leukocytes and is primarily concentrated at the borders between endothelial cells (PubMed
• Sequence:

  MQPRWAQGATMWLGVLLTLLLCSSLEGQENSFTINSVDMKSLPDWTVQNGKNLTLQCFADVSTTSHVKPQHQMLF
  YKDDVLFYNISSMKSTESYFIPEVRIYDSGTYKCTVIVNNKEKTTAEYQVLVEGVPSPRVTLDKKEAIQGGIVRV
  NCSVPEEKAPIHFTIEKLELNEKMVKLKREKNSRDQNFVILEFPVEEQDRVLSFRCQARIISGIHMQTSESTKSE
  LVTVTESFSTPKFHISPTGMIMEGAQLHIKCTIQVTHLAQEFPEIIIQKDKAIVAHNRHGNKAVYSVMAMVEHSG
  NYTCKVESSRISKVSSIVVNITELFSKPELESSFTHLDQGERLNLSCSIPGAPPANFTIQKEDTIVSQTQDFTKI
  ASKSDSGTYICTAGIDKVVKKSNTVQIVVCEMLSQPRISYDAQFEVIKGQTIEVRCESISGTLPISYQLLKTSKV
  LENSTKNSNDPAVFKDNPTEDVEYQCVADNCHSHAKMLSEVLRVKVIAPVDEVQISILSSKVVESGEDIVLQCAV
  NEGSGPITYKFYREKEGKPFYQMTSNATQAFWTKQKASKEQEGEYYCTAFNRANHASSVPRSKILTVRVILAPWK
  KGLIAVVIIGVIIALLIIAAKCYFLRKAKAKQMPVEMSRPAVPLLNSNNEKMSDPNMEANSHYGHNDDVRNHAMK
  PINDNKEPLNSDVQYTEVQVSSAESHKDLGKKDTETVYSEVRKAVPDAVESRYSRTEGSLDGT

• Structural information:
  • Protein Domains: (35..12-)
    1 (/note="Ig-like-C2-type)
    (145..23-)
    2 (/note="Ig-like-C2-type)
    (236..31-)
    3 (/note="Ig-like-C2-type)
    (328..40-)
    4 (/note="Ig-like-C2-type)
    (424..49-)
    5 (/note="Ig-like-C2-type)
    (499..59-)
    (/note="Ig-lik-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR040878  IPR003599   IPR003598  
  • Prosite: PS50835
  • PDB: 2KY5 5C14 5GNI
  • PDBsum: 2KY5 5C14 5GNI
  • STRING: ENSP00000457421
• Other Databases: GeneCards:  PECAM1  Malacards:  PECAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0150107	positive regulation of protein localization to cell-cell junction	IDA	biological process
GO:0005911	cell-cell junction	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0035633	maintenance of blood-brain barrier	NAS	biological process
GO:0035696	monocyte extravasation	IMP	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0061028	establishment of endothelial barrier	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IBA	biological process
GO:0004888	transmembrane signaling receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007166	cell surface receptor signaling pathway	IBA	biological process
GO:0006909	phagocytosis	IDA	biological process
GO:0050904	diapedesis	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006909	phagocytosis	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008037	cell recognition	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090673	endothelial cell-matrix adhesion	IEA	biological process
GO:0071944	cell periphery	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0043542	endothelial cell migration	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0030334	regulation of cell migration	IEA	biological process
GO:0007266	Rho protein signal transduction	IEA	biological process
GO:0001886	endothelial cell morphogenesis	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0044291	cell-cell contact zone	IEA	cellular component
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0030485	smooth muscle contractile fiber	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072011	glomerular endothelium development	IEP	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IMP	biological process
GO:0007159	leukocyte cell-cell adhesion	IMP	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IMP	biological process
GO:0072672	neutrophil extravasation	IMP	biological process
GO:0072672	neutrophil extravasation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules
hsa05418	Fluid shear stress and atherosclerosis
hsa04670	Leukocyte transendothelial migration
hsa05144	Malaria

Diseases

Associated diseases	References
Pterygium	PMID:21892527
Sickle cell anemia	PMID:20306667
Polycystic ovary syndrome	PMID:22456311
common variable immunodeficiency	PMID:22697005
autistic disorder	PMID:22717029
Atherosclerosis	PMID:21960570
Ovarian cancer	PMID:25502723
Neurilemmoma	PMID:22555941
Coronary artery disease	PMID:12732396
Coronary artery disease	PMID:11795274
systemic scleroderma	PMID:20228226
Coronary stenosis	PMID:10571959
Myocardial infarction	PMID:11795274
neuroblastoma	PMID:22174364
Polymyalgia rheumatica	PMID:22211720
chronic myeloid leukemia	PMID:16521495
myeloid leukemia	PMID:23772643
Psoriatic arthritis	PMID:22751595
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray