Quiz

1. What is the name of the mystery protein?
SP:HEM3_HUMAN
Homo sapiens
Porphobilinogen deaminase
Short=PBG-D

2. What is the species for the best hit
Bos taurus
Homo sapiens
Mus musculus
Rattus norvegicus

3. What is the UniProtKB/Swiss-Prot accession of the best hit?
P08397
Q2KIN5
P22907
P19356

4. What is the swissprot identifier of the best hit?
HEM3_BOVIN
HEM3_MOUSE
HEM3_RAT
HEM3_HUMAN

5. What is the sequence identity for the best hit
100.00%
92.80%
92.36%

6. What is the E-value for the best hit
2e-104
3e-107
0.0

7. What is the species for the second hit
Bos taurus
Homo sapiens
Mus musculus
Rattus norvegicus

8. What is the UniProtKB/Swiss-Prot accession of the second hit?
P08397
Q2KIN5
P22907
P19356

9. What is the swissprot identifier of the second hit?
HEM3_BOVIN
HEM3_MOUSE
HEM3_RAT
HEM3_HUMAN

10. What is the sequence identity for the second hit
100.00%
92.80%
92.36%

11. What is the E-value for the second hit
2e-104
3e-107
0.0

12. What is the function of the protein?
catalyzes the formation of porphobilinogen
catalyzes the formation of hydroxymethylbilane
catalyzes the breakdown of hydroxymethylbilane
catalyzes the breakdown of porphobilinogen

13. What cofactor(s) (if any) does the protein use
dipyrromethane
water
none
glycerol

14. In what overall biochemical pathway does the enzyme function?
coproporphyrinogen-III synthesis
the heme biosynthetic pathway
hydroxymethylbilane synthesis

15. In what disease (if any) is the protein involved?
Acute intermittent porphyria (AIP)
Anemia

16. What is the EC number
2.5.1.62
2.5.2.61
2.5.1.61

17. What is the OMIM code for the associated mutations
#176000
*609806

18. What is the OMIM code for the associated phenotypes
#176000
*609806

19. What is the Chromosomal locus
11q23.3
1q23
11q20

20. Are mutations in this protein dominant or recessive?
dominant
recessive
there is no disease association

21. What are the key symptoms of any associated disease?
there is no disease association
recurrent attacks of abdominal pain, gastrointestinal dysfunction and neurologic disturbances
headaches and paralysis
seizures and psychotic episodes

22. What is the main biochemical problem caused by mutations in the gene?
there are no known problems
defects in breakdown of heme
defects in the biosynthesis of heme
defects in globin synthesis

23. Which historical figures are believed to have suffered from any associated disease
Nobody known
Renoir and King George II
Picasso and Queen Victoria
Vincent van Gogh and King George III

24. What is the first amino acid annotated in the Catalytic Site Atlas?
Arg26
Ala31
Gln34
Asp99

25. What is the first amino acid to make contact with a ligand?
Arg26
Ala31
Gln34
Asp99

26. From the location of the residues known to be involved in disease, what can you say about their significance?
They are all buried in the structure and would disrupt it if mutated
They all interact with the substrate and/or product
They interact with a co-factor

27. What is the link with the American War of Independence?
A general in the British army suffered from a disease associated with the protein
A general amongst the US revolutionaries suffered from a disease associated with the protein
The British monarch at the time has mental and physical lapses, possibly as a result of associated disease that led to mishandling of the war.

28. Is there a valid link with stories of vampires?
Yes, drinking blood helps with the symptoms as it replenishes heme
Yes, people with the associated disease have extreme sensitivity to sunlight.
No, symptoms of a different types of porphyria (PCT) have extreme sensitivity to sunlight.