Table 4 Selected proteins and their possible involvement in diseases.

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

biomarker.

P06703

10180

Calcyclin (Prolactin receptor

associated protein)

Preferentially expressed during quiescent fibroblast

proliferation.

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

activity.

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

(PARK7).

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

synpolydactyly

O75636-1

32903

Ficolin 3, splice isoform 1

Lectin activity.

Systemic lupus erythematosus

(SLE).

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

cells.

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

alpha-L/beta-2).

P13473

44961

Lysosome-associated membrane

glycoprotein 2, splice isoform 1 or

2

Lysosomal maintenance; intracellular signal

transduction.

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

ATP.

Neuroblastoma.

P10720

10845

Platelet factor 4 variant

Inhibitor of angiogenesis, endothelial cell

chemotaxis.

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

complex.

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

2

Protease inhibitor; host immune response

modulator.

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

formation.

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).