Chromosome 1 (human)

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Chromosome 1 (human)
Human male karyotpe high resolution - Chromosome 1 cropped.png
Pair of human chromosome 1 (after G-banding). One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 1.png
Chromosome 1 pair in human male karyogram.
Length (bp) 247,249,719 bp
Number of genes 3,958
Type Autosome
Centromere position 125 Mbp[1]
RefSeq NC_000001
GenBank CM000663
Map of Chromosome 1
Ideogram of human chromosome 1. Mbp means mega base pair. See locus for other notation.

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.[2] It represents about 9% of the total DNA in human cells.[3]

Identifying genes on each chromosome is an active area of genetic research. Chromosome 1 is currently thought to have 4,316 genes, exceeding previous predictions based on its size.[2] It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.


The following are some of the genes located on chromosome 1:


  • ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
  • COL11A1: collagen, type XI, alpha 1
  • CPT2: carnitine palmitoyltransferase II
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • ESPN: espin (autosomal recessive deafness 36)
  • GALE: UDP-galactose-4-epimerase
  • GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
  • KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
  • KIF1B: kinesin family member 1B
  • MFN2: mitofusin 2
  • MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
  • MUTYH: mutY homolog (E. coli)
  • NGF: Nerve Growth Factor
  • PARK7: Parkinson disease (autosomal recessive, early onset) 7
  • PINK1: PTEN induced putative kinase 1
  • PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • TACSTD2: tumour-associated calcium signal transducer 2
  • TSHB: thyroid stimulating hormone, beta
  • UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)


Chromosome 1 contains 246 million base pairs[4]

Diseases and disorders[edit]

There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer 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. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):


  1. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  2. ^ a b Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
  3. ^ Gregory SG, Barlow KF, McLay KE; et al. (May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414. 
  4. ^ Chromosome 1

Further reading[edit]

External links[edit]