PIK3R3 | ENSG00000117461 | NCBI 8503

Details for: PIK3R3

Gene ID: 8503

Symbol: PIK3R3

Ensembl ID: ENSG00000117461

Description: phosphoinositide-3-kinase regulatory subunit 3

Associated with

Adaptive immune system
(R-HSA-1280218)
Axon guidance
(R-HSA-422475)
Cd28 co-stimulation
(R-HSA-389356)
Cd28 dependent pi3k/akt signaling
(R-HSA-389357)
Constitutive signaling by aberrant pi3k in cancer
(R-HSA-2219530)
Costimulation by the cd28 family
(R-HSA-388841)
Cytokine signaling in immune system
(R-HSA-1280215)
Developmental biology
(R-HSA-1266738)
Disease
(R-HSA-1643685)
Diseases of signal transduction by growth factor receptors and second messengers
(R-HSA-5663202)
Esr-mediated signaling
(R-HSA-8939211)
Extra-nuclear estrogen signaling
(R-HSA-9009391)
G alpha (q) signalling events
(R-HSA-416476)
Gpcr downstream signalling
(R-HSA-388396)
Gpvi-mediated activation cascade
(R-HSA-114604)
Hemostasis
(R-HSA-109582)
Immune system
(R-HSA-168256)
Interleukin-2 family signaling
(R-HSA-451927)
Interleukin-3, interleukin-5 and gm-csf signaling
(R-HSA-512988)
Interleukin-7 signaling
(R-HSA-1266695)
Interleukin receptor shc signaling
(R-HSA-912526)
Intracellular signaling by second messengers
(R-HSA-9006925)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Negative regulation of the pi3k/akt network
(R-HSA-199418)
Nervous system development
(R-HSA-9675108)
Phospholipid metabolism
(R-HSA-1483257)
Pi3k/akt signaling in cancer
(R-HSA-2219528)
Pi5p, pp2a and ier3 regulate pi3k/akt signaling
(R-HSA-6811558)
Pi metabolism
(R-HSA-1483255)
Pip3 activates akt signaling
(R-HSA-1257604)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Rac1 gtpase cycle
(R-HSA-9013149)
Rac2 gtpase cycle
(R-HSA-9013404)
Regulation of signaling by cbl
(R-HSA-912631)
Ret signaling
(R-HSA-8853659)
Rho gtpase cycle
(R-HSA-9012999)
Signaling by gpcr
(R-HSA-372790)
Signaling by interleukins
(R-HSA-449147)
Signaling by kit in disease
(R-HSA-9669938)
Signaling by nuclear receptors
(R-HSA-9006931)
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain kit mutants
(R-HSA-9670439)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signaling by rho gtpases
(R-HSA-194315)
Signaling by rho gtpases, miro gtpases and rhobtb3
(R-HSA-9716542)
Signaling by scf-kit
(R-HSA-1433557)
Signal transduction
(R-HSA-162582)
Synthesis of pips at the plasma membrane
(R-HSA-1660499)
1-phosphatidylinositol-3-kinase activity
(GO:0016303)
1-phosphatidylinositol-3-kinase regulator activity
(GO:0046935)
B cell differentiation
(GO:0030183)
Cell migration involved in sprouting angiogenesis
(GO:0002042)
Cytosol
(GO:0005829)
Immune response
(GO:0006955)
Insulin receptor signaling pathway
(GO:0008286)
Negative regulation of anoikis
(GO:2000811)
Phosphatidylinositol-3-phosphate biosynthetic process
(GO:0036092)
Phosphatidylinositol 3-kinase/protein kinase b signal transduction
(GO:0043491)
Phosphatidylinositol 3-kinase complex, class ia
(GO:0005943)
Phosphotyrosine residue binding
(GO:0001784)
Positive regulation of cell migration
(GO:0030335)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of protein phosphorylation
(GO:0001934)
Protein binding
(GO:0005515)
T cell differentiation
(GO:0030217)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 154.9389
Cell Significance Index: -24.1000
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 94.3845
Cell Significance Index: -23.9400
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 19.7493
Cell Significance Index: -24.3500
Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 9.2236
Cell Significance Index: -28.3300
Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 8.3618
Cell Significance Index: -22.4000
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 2.8326
Cell Significance Index: 815.0200
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 2.5388
Cell Significance Index: 194.8200
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.0749
Cell Significance Index: 744.2300
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.8849
Cell Significance Index: 27.1100
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 1.7541
Cell Significance Index: 98.4300
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 1.0739
Cell Significance Index: 13.3200
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.8426
Cell Significance Index: 103.6000
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.7083
Cell Significance Index: 15.5100
Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: 0.6509
Cell Significance Index: 6.7800
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.6357
Cell Significance Index: 114.5900
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.6093
Cell Significance Index: 115.9500
Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: 0.5460
Cell Significance Index: 3.3600
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.5371
Cell Significance Index: 33.0200
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.5329
Cell Significance Index: 24.1600
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.5314
Cell Significance Index: 61.9300
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.4966
Cell Significance Index: 99.6200
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.4513
Cell Significance Index: 19.9600
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.4233
Cell Significance Index: 16.0300
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.4030
Cell Significance Index: 18.9400
Cell Name: cortical interneuron (CL0008031)
Fold Change: 0.3945
Cell Significance Index: 9.4600
Cell Name: germ cell (CL0000586)
Fold Change: 0.3880
Cell Significance Index: 2.9300
Cell Name: cell in vitro (CL0001034)
Fold Change: 0.3413
Cell Significance Index: 186.4000
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3363
Cell Significance Index: 9.6900
Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.2747
Cell Significance Index: 2.5300
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.2603
Cell Significance Index: 5.6400
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.2151
Cell Significance Index: 194.2000
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.2010
Cell Significance Index: 19.8900
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1320
Cell Significance Index: 18.1300
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.1255
Cell Significance Index: 20.4100
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.1219
Cell Significance Index: 6.3300
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.1189
Cell Significance Index: 7.1400
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.1167
Cell Significance Index: 12.6900
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.1030
Cell Significance Index: 3.6200
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0729
Cell Significance Index: 9.3400
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.0367
Cell Significance Index: 1.7100
Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: 0.0143
Cell Significance Index: 0.1100
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0011
Cell Significance Index: 0.5000
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0093
Cell Significance Index: -17.5000
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0098
Cell Significance Index: -7.2500
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0107
Cell Significance Index: -6.6800
Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0124
Cell Significance Index: -22.8200
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.0142
Cell Significance Index: -0.9800
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0144
Cell Significance Index: -19.5400
Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0145
Cell Significance Index: -22.2700
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0201
Cell Significance Index: -12.7900
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0204
Cell Significance Index: -11.5300
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0223
Cell Significance Index: -16.8700
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0269
Cell Significance Index: -19.7300
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0426
Cell Significance Index: -19.3600
Cell Name: thyroid follicular cell (CL0002258)
Fold Change: -0.0574
Cell Significance Index: -0.6100
Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.0616
Cell Significance Index: -0.7000
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0660
Cell Significance Index: -13.9000
Cell Name: granulosa cell (CL0000501)
Fold Change: -0.0673
Cell Significance Index: -1.7700
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.0681
Cell Significance Index: -4.2900
Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.0696
Cell Significance Index: -0.8300
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0727
Cell Significance Index: -12.4200
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0922
Cell Significance Index: -13.4000
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.0993
Cell Significance Index: -3.4500
Cell Name: lactocyte (CL0002325)
Fold Change: -0.1016
Cell Significance Index: -13.1200
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.1040
Cell Significance Index: -20.6300
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.1128
Cell Significance Index: -2.3400
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1230
Cell Significance Index: -12.5600
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1240
Cell Significance Index: -3.1000
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1260
Cell Significance Index: -14.4400
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: -0.1268
Cell Significance Index: -2.2400
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1417
Cell Significance Index: -16.1800
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1832
Cell Significance Index: -13.6600
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.1932
Cell Significance Index: -4.1000
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.2053
Cell Significance Index: -24.2100
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.2131
Cell Significance Index: -4.5600
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2376
Cell Significance Index: -24.7400
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.2709
Cell Significance Index: -16.6100
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.2791
Cell Significance Index: -8.9400
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2881
Cell Significance Index: -22.8200
Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -0.2951
Cell Significance Index: -3.6800
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.2981
Cell Significance Index: -9.7600
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.3150
Cell Significance Index: -21.1800
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.3376
Cell Significance Index: -21.7800
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.3388
Cell Significance Index: -5.6700
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3454
Cell Significance Index: -11.0000
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.3482
Cell Significance Index: -24.6300
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.3617
Cell Significance Index: -5.1800
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: -0.3770
Cell Significance Index: -4.5700
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.3798
Cell Significance Index: -10.1400
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.3834
Cell Significance Index: -6.5700
Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.3859
Cell Significance Index: -4.8700
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.3893
Cell Significance Index: -8.2900
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.3902
Cell Significance Index: -8.4300
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: -0.3975
Cell Significance Index: -6.1500
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.4046
Cell Significance Index: -8.0000
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.4076
Cell Significance Index: -14.2800
Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
Fold Change: -0.4110
Cell Significance Index: -1.4300
Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.4249
Cell Significance Index: -8.5300
Cell Name: granule cell (CL0000120)
Fold Change: -0.4418
Cell Significance Index: -5.0300
Cell Name: peg cell (CL4033014)
Fold Change: -0.4480
Cell Significance Index: -10.3500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics** PIK3R3 is a highly conserved gene that belongs to the PI3K regulatory subunit family. It is encoded by a single gene and consists of three exons that encode a 55-kDa protein. The PIK3R3 protein is a regulatory subunit of the PI3K complex, which is composed of the PI3K catalytic subunit (PIK3CA) and the regulatory subunits (PIK3R1 and PIK3R3). PIK3R3 is specifically involved in the activation of the PI3K complex and the subsequent signaling pathways. **Pathways and Functions** PIK3R3 is involved in a wide range of signaling pathways, including: 1. **PI3K/AKT signaling pathway**: This pathway is involved in cell growth, proliferation, and survival. PIK3R3 is essential for the activation of the PI3K complex and the subsequent signaling of AKT. 2. **Adaptive immune responses**: PIK3R3 is highly expressed in immune cells, including T cells and B cells, and is involved in the regulation of adaptive immune responses. 3. **Cell migration**: PIK3R3 is involved in the regulation of cell migration, particularly in the context of axon guidance and angiogenesis. 4. **Neuronal signaling**: PIK3R3 is expressed in neurons and is involved in the regulation of neuronal signaling pathways. 5. **Endothelial cell function**: PIK3R3 is expressed in endothelial cells and is involved in the regulation of endothelial cell function, including cell migration and proliferation. **Clinical Significance** Dysregulation of the PI3K/AKT signaling pathway, including PIK3R3, has been implicated in various diseases, including: 1. **Cancer**: PIK3R3 is overexpressed in many types of cancer, including breast, lung, and colon cancer. The dysregulation of the PI3K/AKT signaling pathway contributes to tumor growth and progression. 2. **Autoimmune diseases**: PIK3R3 is involved in the regulation of adaptive immune responses, and dysregulation of the PI3K/AKT signaling pathway has been implicated in autoimmune diseases, including rheumatoid arthritis and multiple sclerosis. 3. **Neurological disorders**: PIK3R3 is expressed in neurons and is involved in the regulation of neuronal signaling pathways. Dysregulation of the PI3K/AKT signaling pathway has been implicated in neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, PIK3R3 is a critical regulator of signaling pathways in immune cells and beyond. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining tissue homeostasis and preventing disease. Further research is needed to fully understand the role of PIK3R3 in disease and to develop therapeutic strategies to target this gene.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Phosphatidylinositol 3-kinase regulatory subunit gamma
Q8N381_HUMAN

Genular Protein ID: 3965879363

Symbol: P55G_HUMAN

Name: Phosphatidylinositol 3-kinase regulatory subunit gamma

UniProtKB Accession Codes:

Q92569 B2R9C1 D3DQ12 O60482 Q5T4P1 Q5T4P2

Database IDs:

Citations:

PubMed ID: 9524259

Title: Cloning of human p55 gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulin-like growth factor-I receptor.

PubMed ID: 9524259

DOI: 10.1016/s0378-1119(98)00045-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 12470648

Title: Interaction of Axl receptor tyrosine kinase with C1-TEN, a novel C1 domain-containing protein with homology to tensin.

PubMed ID: 12470648

DOI: 10.1016/s0006-291x(02)02718-3

Sequence Information:

Length: 461
Mass: 54448
Checksum: 303BCC2F9EEE5364
Sequence:

MYNTVWSMDR DDADWREVMM PYSTELIFYI EMDPPALPPK PPKPMTSAVP NGMKDSSVSL 
QDAEWYWGDI SREEVNDKLR DMPDGTFLVR DASTKMQGDY TLTLRKGGNN KLIKIYHRDG 
KYGFSDPLTF NSVVELINHY HHESLAQYNP KLDVKLMYPV SRYQQDQLVK EDNIDAVGKK 
LQEYHSQYQE KSKEYDRLYE EYTRTSQEIQ MKRTAIEAFN ETIKIFEEQC HTQEQHSKEY 
IERFRREGNE KEIERIMMNY DKLKSRLGEI HDSKMRLEQD LKNQALDNRE IDKKMNSIKP 
DLIQLRKIRD QHLVWLNHKG VRQKRLNVWL GIKNEDADEN YFINEEDENL PHYDEKTWFV 
EDINRVQAED LLYGKPDGAF LIRESSKKGC YACSVVADGE VKHCVIYSTA RGYGFAEPYN 
LYSSLKELVL HYQQTSLVQH NDSLNVRLAY PVHAQMPSLC R

Genular Protein ID: 2467205527

Symbol: Q8N381_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N381

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

Length: 461
Mass: 54404
Checksum: 303CBC2DEEEB5364
Sequence:

MYNTVWSMDR DDADWREVMM PYSTELIFYI EMDPPALPPK PPKPMTSAVP NGMKDSSVSL 
QDAEWYWGDI SREEVNDKLR DMPDGTFLVR DASTKMQGDY TLTLRKGGNN KLIKIYHRDG 
KYGFSDPLTF NSVVELINHY HHESLAQYNP KLDVKLMYPV SRYQQDQLVK EDNIDAVGKK 
LQEYHSQYQE KSKEYDRLYE EYTRTSQEIQ MKRTAIEAFN ETIKIFEEQC HTQEQHSKEY 
IERFRREGNE KEIERIMMNY DKLKSRLGEI HDSKMRLEQD LKNQALDNRE IDKKMNSIKP 
DLIQLRKIRD QHLVWLNHKG VRQKRLNVWL GIKNEDAAEN YFINEEDENL PHYDEKTWFV 
EDINRVQAED LLYGKPDGAF LIRESSKKGC YACSVVADGE VKHCVIYSTA RGYGFAEPYN 
LYSSLKELVL HYQQTSLVQH NDSLNVRLAY PVHAQMPSLC R

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PIK3R3

Associated with

Cells (max top 100)

Other Information

Cloning of human p55 gamma, a regulatory subunit of phosphatidylinositol 3-kinase, by a yeast two-hybrid library screen with the insulin-like growth factor-I receptor. PubMed ID: 9524259

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414