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Chromosome 11 (human)

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. The shorter arm (p arm) is termed 11p while the longer arm (q arm) is 11q. At about 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 the chromosome.

Chromosome 11
Human male karyotpe high resolution - Chromosome 11.png
Chromosome 11 pair
in human male karyogram.
Features
Length (bp)135,086,622 bp
(GRCh38)[1]
No. of genes1,224 (CCDS)
TypeAutosome
Centromere positionSubmetacentric[2]
(53.4 Mbp[3])
Complete gene lists
CCDSGene list [29]
HGNCGene list [30]
UniProtGene list [31]
NCBIGene list [32]
External map viewers
EnsemblChromosome 11 [33]
EntrezChromosome 11 [34]
NCBIChromosome 11 [35]
UCSCChromosome 11 [36]
Full DNA sequences
RefSeqNC_000011 [37] (FASTA)
GenBankCM000673 [38] (FASTA)

Gene

Number of genes

The following are some of the gene count estimates of human chromosome 11. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[4]

Estimated byProtein-coding genesNon-coding RNA genesPseudogenesSourceRelease date
CCDS1,224——[5]2016-09-08
HGNC1,262271666[6]2017-05-12
Ensembl1,3011,060811[7]2017-03-29
UniProt1,327——[8]2018-02-28
NCBI1,314860839[9][10][11]2017-05-19

Gene list

The following is a partial list of genes on human chromosome 11. For complete list, see the link in the infobox on the right.

  • ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)

  • ACRV1: encoding protein Acrosomal protein SP-10

  • AKIP1: A kinase interacting protein 1

  • ALKBH3 encoding protein AlkB homolog 3, alpha-ketoglutaratedependent dioxygenase

  • AMOTL1: angiomotin-like protein 1

  • AMPD3: encoding enzyme AMP deaminase 3

  • API5: encoding protein Apoptosis inhibitor 5

  • APLNR: Apelin receptor (APJ receptor)

  • APOA4: apolipoprotein A-IV

  • ARCN1 encoding protein Archain 1

  • 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

  • C11orf52 encoding protein C11orf52

  • C11orf54: encoding protein Ester hydrolase C11orf54

  • C11orf58: small acidic protein

  • C11orf73: chromosome 11, open reading frame 73

  • C11orf86: encoding protein Uncharacterized protein C11orf86

  • C1QTNF4 encoding protein C1q and tumor necrosis factor related protein 4

  • C1QTNF5: encoding protein C1q and tumor necrosis factor related protein 5

  • CAPRIN1: encoding protein, cell cycle associated protein 1

  • CCDC90B: coiled coil domain containing 90B

  • CCL9: Chemokine (C-C motif) ligand 9

  • CD81: cluster of differentiation 81

  • CDHR5: cadherin related family member 5

  • COMMD9: COMM domain-containing protein 9

  • CPSF7: Cleavage and polyadenylation specificity factor subunit 7

  • CPT1A: carnitine palmitoyltransferase 1A (liver)

  • CREBZF encoding protein CREB/ATF bZIP transcription factor

  • DAK: Triokinase/FMN cyclase

  • DDI1: encoding protein DNA-damage inducible 1 homolog 1 (S. cerevisiae)

  • DGAT2 encoding protein Diacylglycerol O-acyltransferase 2

  • DHCR7: 7-dehydrocholesterol reductase

  • DKK3: Dickkopf-related protein 3

  • DPF2: Double PHD fingers 2

  • DRD4: Dopamine receptor D4 at 11p15.5

  • DSCAML1: encoding protein Down syndrome cell adhesion molecule like 1

  • EI24: Etoposide-induced protein 2.4 homolog

  • FAM118B: encoding protein Family with sequence similarity 118, member B

  • FAM76B: Family with sequence similarity 76 member B

  • FAR1: fatty acyl-coA reductase 1

  • FAT3: fat atypical cadherin 3

  • FHIP: FTS and Hook-interacting protein

  • FNBP4: Formin-binding protein 4

  • GLB1L3: galactosidase, beta 1-like 3

  • GLYAT: Glycine-N-acyltransferase

  • GLYATL2 encoding protein Glycine-N-acyltransferase like 2

  • GPHA2: Glycoprotein hormone alpha-2

  • GYLTL1B: Glycosyltransferase-like protein LARGE2

  • HBB: hemoglobin, beta

  • HBBP1: encoding protein Hemoglobin, beta pseudogene 1

  • HMBS: hydroxymethylbilane VIIA

  • HRASLS3: adipose phospholipase A2

  • HTATIP2: HIV-1 Tat interactive protein 2

  • HYOU1: hypoxia upregulated protein 1

  • IFITM2 encoding protein Interferon induced transmembrane protein 2

  • IFT46: intraflagellar transport protein 46 homolog

  • INS: insulin gene [12]

  • KDM2A: lysine demethylase 2A

  • KIAA1549L encoding protein KIAA1549-like

  • LPXN: leupaxin

  • LRFN4 encoding protein Leucine rich repeat and fibronectin type III domain containing 4

  • MADD: MAP kinase-activating death domain protein

  • MEN1: Multiple endocrine neoplasia type 1

  • MIRLET7A2: microRNA let-7a-2

  • MMP7: Matrix metalloproteinases (MMP family)

  • MOGAT2: monoacylglycerol O-acyltransferase 2

  • MTRNR2L8: encoding protein MT-RNR2-like 8

  • NADSYN1: NAD synthetase 1

  • NAP1L4: nucleosome assembly protein 1-like 4

  • NFRKB: nuclear factor related to kappa-B binding protein

  • NNMT: nicotinamide N-methyltransferase

  • NRGN: neurogranin

  • P53AIP1: p53-regulated apoptosis-inducing protein 1

  • PAX6: paired box 6

  • PCNX3 encoding protein Pecanex homolog 3

  • PGA3 encoding protein Pepsinogen 3, group I (pepsinogen A)

  • PIWIL4 encoding protein Piwi like RNA-mediated gene silencing 4

  • PRR5L: proline rich 5 like

  • PTPRCAP: protein tyrosine phosphatase receptor type C associated protein

  • PTS: 6-pyruvoyltetrahydropterin synthase

  • QSER1: glutamine serine rich protein 1

  • RAG1/RAG2: recombination activating genes

  • RELT: tumor necrosis factor recepteor

  • REXO2: RNA exonuclease 2

  • RNH1: ribonuclease inhibitor 1

  • RNU2-2: encoding protein RNA, U2 small nuclear 2

  • ROM1: retinal outer segment membrane protein 1

  • RPL27A: encoding protein 60S ribosomal protein L27a

  • RPL36A: encoding protein 60S ribosomal protein L36a

  • RSF1: remodeling and spacing factor 1

  • SAA1: serum amyloid A1

  • SAA2: serum amyloid A2

  • SAC3D1: SAC3 domain-containing protein 1

  • SART1: squamous cell carcinoma antigen recognized by T-cells 1

  • SBF2: SET binding factor 2

  • SCGB1D2: secretoglobin family 1D member 2

  • SESN3 encoding protein Sestrin 3

  • SIDT2 encoding protein SID1 transmembrane family member 2

  • SLC17A6: encoding protein Solute carrier family 17 (vesicular glutamate transporter), member 6

  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)

  • SPA17: sperm autoantigenic protein 17

  • SRPRA: Srp receptor alpha subunit

  • TAF1D: TATA box binding protein associated factor RNA polymerase 1 subunit D

  • TALDO1 encoding protein Transaldolase 1

  • TBRG1: transforming growth factor beta regulator 1

  • TECTA: tectorin alpha (nonsyndromic deafness)

  • TH: tyrosine hydroxylase

  • THRSP: thyroid hormone inducible hepatic protein

  • THYN1: thymocyte nuclear protein 1

  • TIMM10: translocase of inner mitochondrial membrane 10

  • TIMM10B: Mitochondrial import inner membrane translocase subunit Tim9 B

  • TM7SF2: transmembrane 7 superfamily member 2

  • TMEM109: encoding protein Transmembrane protein 109

  • TMEM123: transmembrane protein 123

  • TMEM126B: transmembrane protein 126B

  • TMEM134: transmembrane protein 134

  • TMEM25: transmembrane protein 25

  • TP53I11: tumor protein 53 inducible protein 11

  • TRAPPC4: trafficking protein particle complex subunit 4

  • TRPT1: tRNA 2'-phosphotransferase 1

  • UNC93B1: Unc-93 homolog B1

  • UPK2: uroplakin-2

  • USH1C: Usher syndrome 1C (autosomal recessive, severe)

  • USP47: ubiquitin specific peptidase 47

  • UVRAG: UV radiation resistance associated

  • VPS26B: vacuolar protein sorting 26 homolog B

  • VSIG2: V-set and immunoglobulin domain containing 2

  • WT1: Wilms tumor protein

  • YIF1A: Yip1 interacting factor homolog A

  • ZFP91-CNTF

  • ZNF408: zinc finger protein 408

Diseases and disorders

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

  • autism (neurexin 1) [13]

  • 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

  • Cystic fibrosis

  • Depression

  • Denys–Drash syndrome

  • familial Mediterranean fever

  • Hereditary angioedema OMIM: 106100 [39]

  • 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

  • porphyria

  • Potocki–Shaffer syndrome

  • Romano–Ward syndrome

  • Sickle cell anemia[14]

  • Smith–Lemli–Opitz syndrome

  • tetrahydrobiopterin deficiency

  • Usher syndrome

  • WAGR syndrome

  • Wiedemann–Steiner syndrome

  • Wilms' tumor

Cytogenetic band

G-banding patterns of human chromosome 11 in three different resolutions (400, 550 and 850). Band length in this diagram is based on the ideograms from ISCN (2013). This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.

G-banding patterns of human chromosome 11 in three different resolutions (400,[15] 550[16] and 850[3]). Band length in this diagram is based on the ideograms from ISCN (2013).[17] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[18]

G-banding ideogram of human chromosome 11 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).

G-banding ideogram of human chromosome 11 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).

G-bands of human chromosome 11 in resolution 850 bphs[[CITE|19|ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1]]
Chr.Arm[20]Band[21]ISCN
start[22]		ISCN
stop[22]		Basepair
start		Basepair
stop		Stain[23]Density
11p15.5023012,800,000gneg
11p15.42304612,800,00111,700,000gpos50
11p15.346174511,700,00113,800,000gneg
11p15.274593513,800,00116,900,000gpos50
11p15.1935124616,900,00122,000,000gneg
11p14.31246149022,000,00126,200,000gpos100
11p14.21490154526,200,00127,200,000gneg
11p14.11545177527,200,00131,000,000gpos75
11p131775211431,000,00136,400,000gneg
11p122114235736,400,00143,400,000gpos100
11p11.22357265543,400,00148,800,000gneg
11p11.122655287248,800,00151,000,000gpos75
11p11.112872303551,000,00153,400,000acen
11q113035319753,400,00155,800,000acen
11q12.13197341455,800,00160,100,000gpos75
11q12.23414355060,100,00161,900,000gneg
11q12.33550368561,900,00163,600,000gpos25
11q13.13685403763,600,00166,100,000gneg
11q13.24037418666,100,00168,700,000gpos25
11q13.34186451268,700,00170,500,000gneg
11q13.44512468870,500,00175,500,000gpos50
11q13.54688487775,500,00177,400,000gneg
11q14.14877514877,400,00185,900,000gpos100
11q14.25148525785,900,00188,600,000gneg
11q14.35257547488,600,00193,000,000gpos100
11q215474569093,000,00197,400,000gneg
11q22.15690593497,400,001102,300,000gpos100
11q22.259346070102,300,001103,000,000gneg
11q22.360706300103,000,001110,600,000gpos100
11q23.163006503110,600,001112,700,000gneg
11q23.265036693112,700,001114,600,000gpos50
11q23.366937167114,600,001121,300,000gneg
11q24.171677316121,300,001124,000,000gpos50
11q24.273167533124,000,001127,900,000gneg
11q24.375337695127,900,001130,900,000gpos50
11q2576957980130,900,001135,086,622gneg

References

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Citation Linkopenlibrary.org"p": Short arm; "q": Long arm.
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