Functions/Dysfunctions Of Protein Processing Flashcards

(33 cards)

1
Q

Silent Mutation

A

Does not change the amino acid

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2
Q

Missense Mutation

A

Changes amino acid in the protein.

Either no effect or different function.

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3
Q

Nonsense Mutation

A

codon changes into a stop codon.

Causes premature chain termination (null mutation)

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4
Q

Sickle Cell Anemia

A

missense mutation

glutamic acid to valine
deforms RBCs

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5
Q

Duchenne Muscular Dystrophy

A

frameshift mutation

little/no expression of dystrophin protein

muscle wasting,

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6
Q

Cytoplasmic Pathway

A

for proteins going to cytosol, mitochondria, nucleus, and peroxisomes

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7
Q

Where does protein synthesis begin and end?

A

on free ribosomes

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8
Q

Cytoplasmic Pathway

A

for proteins going to cytosol, mitochondria, nucleus, and peroxisomes.

c mi nu pe(n)
see my new pen

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9
Q

Where does protein synthesis begin and end?

A

on free ribosomes

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10
Q

Secretory Pathway

A

for proteins going to the ER, lysosomes, plasma membranes, or for secretion

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11
Q

Where does translation begin and end?

A

Translation begins on free ribosomes but ends on ribosomes sent to ER

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12
Q

Who are TIM and TOM

A

transporter in inner membrane and transporter in outer member

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13
Q

What do TIM and TOM do?

A

recognize translocation sequence

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14
Q

General properties of secretory pathway

A

1 or 2 amino acids (Lys or Arg) near N terminus and an extremely hydrophobic sequence on C terminus

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15
Q

SRP

A

signal recognition particle.

binds to the ER-targeting signal and ribosome during translation

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16
Q

What does SRP wrap around, and why?

A

ribosome-mRNA-peptide complex, it pauses translation

17
Q

Enzymes on luminal side

A

cleave the signal to release the protein

18
Q

Signal Sequence for ER Lumen proteins

A
KDEL
K-Lysine
D-Aspartic acid
E-Glutamic acid
L-Leucine
19
Q

Signal sequence for lysosomal proteins

A

Mannose-6-phosphate (M6P)

20
Q

Signal sequence for lysosomal proteins

A

Mannose-6-phosphate (M6P)

21
Q

Signal sequence for membrane proteins

A

N terminal apolar sequences

22
Q

Signal sequence for secretory proteins

A

tryptophan rich domain

23
Q

Glycosylation (2 types)

A

O-linked are formed with the hydroxyl groups of Ser or Thr

N-linked are ALWAYS with Asparagine. Precursor sugar transferred from phospho Dolichol

24
Q

Phosphorylation Description

A

Ester bond between phosphate and OH of an amino acid (serine/threonine and tyrosine kinase)

25
What is the purpose of Phosphorylation?
regulate enzyme activity and protein function; cell growth, proliferation, differentiation, oncogenesis
26
Ascorbic acid's importance
lysyl and prolyl hydroxylases
27
Parkinson's Disease
impaired fine motor control
28
Huntington's Diseases
Loss of movement and cognitive functions and psychiatric problems
29
Crutzfeldt-Jacob Disease
failing memory, behavioral changes, lack of coordination. Late stages involve mental deterioration, blindness, weakness of extremities, and coma
30
Alzheimer's Diseases
Amyloid precursor protein (APP) breaks down to form amyloid beta peptide (AB). Misfolding, makes plaques - extracellular. Hyperphosphorylation of Tau (tangles) - intracellular.
31
Parkinson's Disease
aggregation of a-synuclein (AS) which deposits Lewy bodies in dopaminergic neurons in substantia nigra. Reduced availability of dopamine.
32
Huntington's Diseases
mutations in Huntingtin's gene, causes expansion of CAG triplet repeats. Polyglutamine repeats, selective death of cells in basal ganglia.
33
Crutzfeldt-Jacob Disease
misfold of prion proteins. Can be transmitted. Transmissable Spongiform Encephalopathies (TSEs).