Chromosome 1
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.
It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. Among various projects, the collaborative consensus coding sequence project takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.| Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
| CCDS | 1,961 | — | — | 2016-09-08 | |
| HGNC | 1,993 | 707 | 1,113 | 2017-05-12 | |
| Ensembl | 2,044 | 1,924 | 1,223 | 2017-03-29 | |
| UniProt | 2,064 | — | — | 2018-02-28 | |
| NCBI | 2,093 | 1,790 | 1,426 | 2017-05-19 |
Gene list
The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.- DENN1B hypothesized to be related to asthma
p-arm
q-arm
Partial list of the genes located on q-arm of human chromosome 1:Diseases and disorders
There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.Complete monosomy is invariably lethal before birth. Complete trisomy is lethal within days after conception. Some partial deletions and partial duplications produce birth defects.
The following diseases are some of those related to genes on chromosome 1 :
- 1q21.1 deletion syndrome
- 1q21.1 duplication syndrome
- Alzheimer's disease
- Breast cancer
- Brooke Greenberg Disease
- Carnitine palmitoyltransferase II deficiency
- Charcot–Marie–Tooth disease, types 1 and 2
- collagenopathy, types II and XI
- congenital hypothyroidism
- Ehlers-Danlos syndrome
- Factor V Leiden thrombophilia
- Familial adenomatous polyposis
- galactosemia
- Gaucher disease
- Gaucher-like disease
- Gelatinous drop-like corneal dystrophy
- Glaucoma
- Hearing loss, autosomal recessive deafness 36
- Hemochromatosis
- Hepatoerythropoietic porphyria
- Homocystinuria
- Hutchinson Gilford progeria syndrome
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
- maple syrup urine disease
- medium-chain acyl-coenzyme A dehydrogenase deficiency
- Microcephaly
- Muckle-Wells Syndrome
- Nonsyndromic deafness
- Oligodendroglioma
- Parkinson disease
- Pheochromocytoma
- porphyria
- porphyria cutanea tarda
- popliteal pterygium syndrome
- prostate cancer
- Stickler syndrome
- TAR syndrome
- trimethylaminuria
- Usher syndrome
- Usher syndrome type II
- Van der Woude syndrome
- Variegate porphyria
Cytogenetic band
| Chr. | Arm | Band | ISCN start | ISCN stop | Basepair start | Basepair stop | Stain | Density |
| 1 | p | 36.33 | 0 | 100 | gneg | |||
| 1 | p | 36.32 | 100 | 244 | gpos | 25 | ||
| 1 | p | 36.31 | 244 | 344 | gneg | |||
| 1 | p | 36.23 | 344 | 459 | gpos | 25 | ||
| 1 | p | 36.22 | 459 | 660 | gneg | |||
| 1 | p | 36.21 | 660 | 861 | gpos | 50 | ||
| 1 | p | 36.13 | 861 | 1206 | gneg | |||
| 1 | p | 36.12 | 1206 | 1321 | gpos | 25 | ||
| 1 | p | 36.11 | 1321 | 1521 | gneg | |||
| 1 | p | 35.3 | 1521 | 1651 | gpos | 25 | ||
| 1 | p | 35.2 | 1651 | 1780 | gneg | |||
| 1 | p | 35.1 | 1780 | 1895 | gpos | 25 | ||
| 1 | p | 34.3 | 1895 | 2210 | gneg | |||
| 1 | p | 34.2 | 2210 | 2411 | gpos | 25 | ||
| 1 | p | 34.1 | 2411 | 2770 | gneg | |||
| 1 | p | 33 | 2770 | 2986 | gpos | 75 | ||
| 1 | p | 32.3 | 2986 | 3273 | gneg | |||
| 1 | p | 32.2 | 3273 | 3416 | gpos | 50 | ||
| 1 | p | 32.1 | 3416 | 3732 | gneg | |||
| 1 | p | 31.3 | 3732 | 3976 | gpos | 50 | ||
| 1 | p | 31.2 | 3976 | 4206 | gneg | |||
| 1 | p | 31.1 | 4206 | 4852 | gpos | 100 | ||
| 1 | p | 22.3 | 4852 | 5210 | gneg | |||
| 1 | p | 22.2 | 5210 | 5440 | gpos | 75 | ||
| 1 | p | 22.1 | 5440 | 5741 | gneg | |||
| 1 | p | 21.3 | 5741 | 5957 | gpos | 75 | ||
| 1 | p | 21.2 | 5957 | 6029 | gneg | |||
| 1 | p | 21.1 | 6029 | 6244 | gpos | 100 | ||
| 1 | p | 13.3 | 6244 | 6459 | gneg | |||
| 1 | p | 13.2 | 6459 | 6660 | gpos | 50 | ||
| 1 | p | 13.1 | 6660 | 6861 | gneg | |||
| 1 | p | 12 | 6861 | 7048 | gpos | 50 | ||
| 1 | p | 11.2 | 7048 | 7119 | gneg | |||
| 1 | p | 11.1 | 7119 | 7335 | acen | |||
| 1 | q | 11 | 7335 | 7579 | acen | |||
| 1 | q | 12 | 7579 | 8483 | gvar | |||
| 1 | q | 21.1 | 8483 | 8756 | gneg | |||
| 1 | q | 21.2 | 8756 | 8957 | gpos | 50 | ||
| 1 | q | 21.3 | 8957 | 9244 | gneg | |||
| 1 | q | 22 | 9244 | 9459 | gpos | 50 | ||
| 1 | q | 23.1 | 9459 | 9832 | gneg | |||
| 1 | q | 23.2 | 9832 | 10048 | gpos | 50 | ||
| 1 | q | 23.3 | 10048 | 10349 | gneg | |||
| 1 | q | 24.1 | 10349 | 10507 | gpos | 50 | ||
| 1 | q | 24.2 | 10507 | 10679 | gneg | |||
| 1 | q | 24.3 | 10679 | 10894 | gpos | 75 | ||
| 1 | q | 25.1 | 10894 | 11009 | gneg | |||
| 1 | q | 25.2 | 11009 | 11196 | gpos | 50 | ||
| 1 | q | 25.3 | 11196 | 11598 | gneg | |||
| 1 | q | 31.1 | 11598 | 11827 | gpos | 100 | ||
| 1 | q | 31.2 | 11827 | 11942 | gneg | |||
| 1 | q | 31.3 | 11942 | 12172 | gpos | 100 | ||
| 1 | q | 32.1 | 12172 | 12617 | gneg | |||
| 1 | q | 32.2 | 12617 | 12803 | gpos | 25 | ||
| 1 | q | 32.3 | 12803 | 13033 | gneg | |||
| 1 | q | 41 | 13033 | 13320 | gpos | 100 | ||
| 1 | q | 42.11 | 13320 | 13406 | gneg | |||
| 1 | q | 42.12 | 13406 | 13607 | gpos | 25 | ||
| 1 | q | 42.13 | 13607 | 13966 | gneg | |||
| 1 | q | 42.2 | 13966 | 14153 | gpos | 50 | ||
| 1 | q | 42.3 | 14153 | 14397 | gneg | |||
| 1 | q | 43 | 14397 | 14756 | gpos | 75 | ||
| 1 | q | 44 | 14756 | 15100 | gneg |