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Table 4 Selected proteins and their possible involvement in diseases.

From: A high confidence, manually validated human blood plasma protein reference set

Accession MW Protein name Function Disease
Q15848 26414 Adiponectin Hematopoiesis, immune system; fat metabolism
and insulin sensitivity.
Adiponectin deficiency; obesity
insulin resistance, diabetes type 2.
P37840 14460 Alpha-synuclein, isoform 1, 2, or 3 Regulation of dopamine release and transport.
Decreased caspase 3 activation.
Defects in SNCA cause autosomal
dominant Parkinson disease 1 and
Lewy body dementia (DLB).
P02741-1 25039 C-reactive protein, splice
isoform 1
Enhances host defense. Inflammation, heart disease
P06703 10180 Calcyclin (Prolactin receptor
associated protein)
Preferentially expressed during quiescent fibroblast
It is inducible by growth factors
and overexpressed in acute
myeloid leukemias
P31944 27680 Caspase-14 Apoptosis.  
P07339 44552 Cathepsin D Acid protease active in intracellular
protein breakdown.
Disease pathogenesis:
breast cancer, possibly
Alzheimer's disease.
P81605 11284 Dermcidin Neuron survival; phosphatase and antimicrobial
Q99497 19891 DJ-1 protein (Oncogene DJ1) Androgen receptor-dependent transcription
regulator; prevents aggregation of SNCA; protects
neurons from oxidative stress and cell death; role
in fertilization.
Early-onset Parkinson disease 7
P23142-1 77261 Fibulin-1, splice isoform 1 or D Cell adhesion/migration, organization of ECM,
haemostasis and thrombosis, modulation of APP,
tumor suppressor.
human breast cancer;
synpolydactyly (limb malformation)
P23142-4 74462 Fibulin-1, splice isoform 4 or C   human breast cancer; does not
seem to be implicated in
O75636-1 32903 Ficolin 3, splice isoform 1 Lectin activity. Systemic lupus erythematosus
P16930 46374 Fumarylacetoacetase Not found Defects in FAH are the cause of
tyrosinemia type I.
Q7M4S4 2046 Granulocyte inhibitory protein Inhibits the biological activity of polymorphonuclear
P01344-1 20140 Insulin-like growth factor II,
splice isoform 1
Growth-promoting activity; fetal development.  
P05362 57826 Intercellular adhesion molecule-1 ICAM proteins are ligands for the leukocyte
adhesion LFA-1 protein (Integrin
P13473 44961 Lysosome-associated membrane
glycoprotein 2, splice isoform 1 or
Lysosomal maintenance; intracellular signal
Implicated in tumor cell metastasis.
P02144 17053 Myoglobin Reserve O2 supply, O2 movement within muscles.  
P58546 12764 Myotrophin Cerebellar morphogenesis. Seems to be associated with
cardiac hypertrophy.
P22392 17401 NM23-LV (contains Nucleoside
diphosphate kinase B sequence)
Nucleoside diphosphate kinase B is a
transcriptional activator of the c-Myc gene;
binds DNA nonspecifically.
Reduced amounts of Nucleoside
diphosphate kinase B in tumor cells
of high metastatic potential.
P15531 17149 Nucleoside diphosphate kinase A Synthesis of nucleoside triphosphates other than
P10720 10845 Platelet factor 4 variant Inhibitor of angiogenesis, endothelial cell
P01133 133946 Pro-epidermal growth factor Growth of epidermal and epithelial tissues.  
P27918 51276 Properdin (Factor P) Alternate complement pathway; binds C3- and C5-
convertase enzyme complexes.
Properdin deficiency (PFD); higher
susceptibility to bacterial infections;
especially meningococcal.
P61019 23546 Ras-related protein Rab-2A Protein transport; endoplasmic reticulum to Golgi
P51149 23490 Ras-related protein Rab-7 Protein transport. Vesicular traffic. Charcot-Marie-Tooth disease type
2B (CMT2B).
Q12913 145927 Receptor-type tyrosine-protein
phosphatase eta
Mechanism of contact inhibition of cell growth. Cancers of colon, lung, and breast.
P48594 44854 Squamous cell carcinoma antigen
Protease inhibitor; host immune response
Seems to also be secreted in
plasma by cancerous cells but at a
low level.
Q15582 74681 Transforming growth factor-beta
induced protein IG-H3
Cell-collagen interactions; endochondral bone
Corneal dystrophy Groenouw type
I (CDGG1).
P07911 69761 Uromodulin Not known. Possible regulation of cytokines. Familial juvenile hyperuricemic
nephropathy (HNFJ); medullary
cystic kidney disease 2 (MCKD2).
  1. We have provided a short selection of proteins that we identified in our experiments and that have important biological functions and/or may have some role in a disease process. The table includes a description of the protein function, the disease involved, the primary accession number of the protein, and the molecular weight and name of the protein and has been arranged alphabetically according to protein name.