Chromosome 1
Chromosome 1
Length of DNA
248'956'422 bp
i.e. 8.2 cm
Estimated number of genes
2’092
Sequenced
in the UK and the USA
Link
+
Chromosome 1 is the biggest human chromosome and the last to have been sequenced.
on guard
ISG15: gene coding for a protein that plays a key role in the innate immune response against viral infections, both inside and outside infected cells.
The human genome odyssey
Imagine a very long text written by using only 4 letters: A, T, G and C. Three billion of these letters – spread over 23 chromosomes – are linked to one another to form our genome. This is what constitutes our DNA, our biological identity and the genetic heritage that we pass on to our children.
Catalysis
PARP1: gene coding for a protein involved in DNA repair. When it binds with another protein, HPF1, like two pieces of a jigsaw puzzle that lock to become a different shape, their active sites add up to create a novel one. PARP1 in the presence of HPF1 is still involved in DNA repair but acts differently.
Heat production
ALPL : gène codant pour une protéine qui joue un rôle important dans la minéralisation des os et des dents …et dans la production de chaleur en cas de besoin.
External links
Protein Spotlight: Constructive futility
Corresponding protein in UniProtKB/Swiss-Prot
Epilepsy and tarantula
KCNH1: Gene encoding a channel protein involved in the activation and deactivation of neurons. Mutations in this gene can lead to epileptic seizures. Peptides isolated from tarantula venom target this protein and could be potential candidates for the development of antiepileptic drugs.
Blood type
SMIM1: Gene involved in the formation of red blood cells. A particular mutation of this gene is associated with a very rare blood group called Vel-negative.
geometry
TRNP1: This gene is involved in brain development and the formation of grooves.
External links
Protein Spotlight : the geometry of intelligence
Corresponding protein in UniProtKB/Swiss-Protbeautiful hair
TCHH: Gene involved in producing hair. Certain variations of this gene are associated with frizzy hair.
External links
Corresponding protein in UniProtKB/Swiss-Prottemperature
PM20D1: Gene involved in the regulation of body temperature.
stench
FMO3 : When defective, this gene is involved in the release of disagreeable body smells (rotting fish).
External links
Protein Spotlight : a case for discomfort
Corresponding protein in UniProtKB/Swiss-Protramifications
SRGAP2 : This gene is involved in brain development. This gene is present in 2 copies in humans, but only once in great apes. The additional copy, called SRGAP2C, could have boosted the brain of our ancestors by increasing the number of connections between neurons.
External links
Protein Spotlight : branching out
Corresponding protein in UniProtKB/Swiss-Prot (SRGAP2A)
Corresponding protein in UniProtKB/Swiss-Prot (SRGAP2C)
contraception
BRDT : This gene is involved in making sperm and is an ideal target for male contraception.
External links
Protein Spotlight : asking life to be patient
Corresponding protein in UniProtKB/Swiss-Protduffy
ACKR1: This gene codes for the Duffy blood group antigens. Individuals who do not produce the Duffy FY(A-B-) antigen are more resistant to certain forms of malaria.
External links
Bioinformatics expert : DARC in the OMIM database
Corresponding protein in UniProtKB/Swiss-Prot
a sixth sense?
VN1R5: This gene codes for a pheromone receptor.
eternal youth…
KISS1: If this gene is dysfunctional, puberty stalls. A way of staying young?
headache?
COX2: This gene codes for a protein which is targeted by aspirin.
taxi for fat
ApoAII: This gene is involved in the transport of fats in our blood.
External links
Corresponding protein in UniProtKB/Swiss-ProtInternal links
Chromosome 19: ApoE
healing
CRP: This gene codes for a protein which induces tissue repair.
External links
Protein Spotlight: No more Christmas pudding?
Corresponding protein in UniProtKB/Swiss-Protchromosome scaffolding
HIST2H4A: This is one of the numerous genes that code for histone proteins. The characteristic architecture of a chromosome is due to the way DNA is wound around histones.
External links
Bioinformatics expert: DNA wound around histones in the PDB database
Corresponding protein in UniProtKB/Swiss-Prot
Internal links
Chromosome 6: HIST1H4
a painful story
PDE4B: This gene may be involved in the action of certain kinds of medication (antidepressants, anti-inflammatory drugs).
External links
Prolune - snapshot: Beta-arrestin 2 and pde4
Corresponding protein in UniProtKB/Swiss-Protboy or girl?
RSPO1: Gene involved in gender determination.
External links
Prolune - article: ♂ or ♀, that is the question
Corresponding protein in UniProtKB/Swiss-Protthe effects of cannabis
CNR2: This gene codes for a receptor which binds to one of the components of cannabis.
External links
Prolune - snapshot: Cannabinoid receptor 2 protein
Corresponding protein in UniProtKB/Swiss-Protsweet
TARS1/ TAR1S2/ TAR1S3: Groups of genes involved in the perception of sweet and umami tastes.
External links
Prolune - snapshot: The T1R2 receptor
Protein Spotlight: The taste experience
One of corresponding protein in UniProtKB/Swiss-Prot