Puneet Varma (Editor)

Chromosome 11 (human)

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Length (bp)
  
135,086,622 bp

Type
  
Autosome

RefSeq
  
NC_000011

No. of genes
  
2,920 2,893

Centromere position
  
Submetacentric

GenBank
  
CM000673

Chromosome 11 (human)

Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Contents

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed insignificantly (0.3%), with one estimate giving 2,920 genes, and the other estimate giving 2,893 genes.

At 21.5 genes per megabase, Chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome.

More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single-gene, and multi-gene, clusters along this chromosome.

Genes

The following are some of the genes located on chromosome 11:

  • ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
  • ACRV1: encoding protein Acrosomal protein SP-10
  • AMPD3: encoding enzyme AMP deaminase 3
  • APLNR: Apelin receptor (APJ receptor)
  • API5: encoding protein Apoptosis inhibitor 5
  • APOA4: apolipoprotein A-IV
  • ASRGL1: encoding enzyme L-asparaginase
  • ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D)
  • B3GNT1: encoding enzyme N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
  • BDNF: secretes BDNF, a member of the Neurotrophin family of proteins
  • C11orf1: encoding protein
  • C11orf16: encoding protein Uncharacterized protein C11orf16
  • C11orf49: encoding protein UPF0705 protein C11orf49
  • C11orf54: encoding protein Ester hydrolase C11orf54
  • C11orf86: encoding protein Uncharacterized protein C11orf86
  • C1QTNF5: encoding protein C1q and tumor necrosis factor related protein 5
  • CCL9: Chemokine (C-C motif) ligand 9
  • CD81
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • DHCR7: 7-dehydrocholesterol reductase
  • HBB: hemoglobin, beta
  • HMBS: hydroxymethylbilane VIIA
  • INS: insulin gene
  • MMP7: Matrix metalloproteinases (MMP family)
  • MEN1: Multiple endocrine neoplasia type 1
  • NRGN
  • PAX6
  • PTS: 6-pyruvoyltetrahydropterin synthase
  • RPL27A: encoding protein 60S ribosomal protein L27a
  • RPL36A: encoding protein 60S ribosomal protein L36a
  • SAA1: serum amyloid A1
  • SBF2: SET binding factor 2
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
  • TECTA: tectorin alpha (nonsyndromic deafness)
  • TH: tyrosine hydroxylase
  • USH1C: Usher syndrome 1C (autosomal recessive, severe)
  • WT1: Wilms tumor protein
  • RAG1/RAG2: recombination activating genes
  • Diseases and disorders

    The following diseases and disorders are some of those related to genes on chromosome 11:

  • autism (neurexin 1)
  • annidraedea
  • acute intermittent porphyria
  • albinism
  • ataxia-telangiectasia
  • Beckwith-Wiedemann syndrome
  • Best's disease
  • beta-ketothiolase deficiency
  • beta thalassemia
  • bladder cancer
  • breast cancer
  • carnitine palmitoyltransferase I deficiency
  • Charcot-Marie-Tooth disease
  • Charcot-Marie-Tooth disease, type 4
  • Cystic Fibrosis
  • Depression
  • Denys-Drash syndrome
  • familial Mediterranean fever
  • Hereditary angioedema OMIM: 106100
  • Jacobsen syndrome
  • Jervell and Lange-Nielsen syndrome
  • Mantle cell lymphoma (t11;14)
  • Meckel syndrome
  • methemoglobinemia, beta-globin type
  • Mixed Lineage Leukemia
  • multiple endocrine neoplasia type 1
  • Hereditary Multiple Exostoses
  • Niemann-Pick disease
  • nonsyndromic deafness
  • nonsyndromic deafness, autosomal dominant
  • nonsyndromic deafness, autosomal recessive
  • porphyria
  • Potocki-Shaffer Syndrome
  • Romano-Ward syndrome
  • Sickle cell anemia
  • Smith-Lemli-Opitz syndrome
  • tetrahydrobiopterin deficiency
  • Usher syndrome
  • Usher syndrome type I
  • WAGR syndrome
  • Wilms' tumor
  • References

    Chromosome 11 (human) Wikipedia