U2AF1 | ENSG00000160201 | NCBI 7307

Details for: U2AF1

Gene ID: 7307

Symbol: U2AF1

Ensembl ID: ENSG00000160201

Description: U2 small nuclear RNA auxiliary factor 1

Associated with

Gene expression (transcription)
(R-HSA-74160)
Metabolism of rna
(R-HSA-8953854)
Mrna 3'-end processing
(R-HSA-72187)
Mrna splicing
(R-HSA-72172)
Mrna splicing - major pathway
(R-HSA-72163)
Processing of capped intron-containing pre-mrna
(R-HSA-72203)
Rna polymerase ii transcription
(R-HSA-73857)
Rna polymerase ii transcription termination
(R-HSA-73856)
Transport of mature mrna derived from an intron-containing transcript
(R-HSA-159236)
Transport of mature transcript to cytoplasm
(R-HSA-72202)
Cajal body
(GO:0015030)
Catalytic step 2 spliceosome
(GO:0071013)
Metal ion binding
(GO:0046872)
Mrna processing
(GO:0006397)
Mrna splicing, via spliceosome
(GO:0000398)
Nuclear speck
(GO:0016607)
Nucleoplasm
(GO:0005654)
Pre-mrna 3'-splice site binding
(GO:0030628)
Protein binding
(GO:0005515)
Rna binding
(GO:0003723)
Rna splicing
(GO:0008380)
Rs domain binding
(GO:0050733)
Spliceosomal complex
(GO:0005681)
U2af complex
(GO:0089701)

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: 75.8622
Cell Significance Index: -11.8000
Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 38.1426
Cell Significance Index: -19.6200
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 37.2570
Cell Significance Index: -9.4500
Cell Name: stem cell of epidermis (CL1000428)
Fold Change: 24.7443
Cell Significance Index: 73.5900
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 12.8553
Cell Significance Index: -15.8500
Cell Name: inflammatory cell (CL0009002)
Fold Change: 8.6958
Cell Significance Index: 49.8600
Cell Name: reticular cell (CL0000432)
Fold Change: 5.8759
Cell Significance Index: 37.4400
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 4.2676
Cell Significance Index: -16.8400
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 4.1942
Cell Significance Index: 123.1800
Cell Name: decidual cell (CL2000002)
Fold Change: 2.0918
Cell Significance Index: 33.5600
Cell Name: theca cell (CL0000503)
Fold Change: 2.0051
Cell Significance Index: 11.7800
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.8536
Cell Significance Index: 533.3400
Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 1.6952
Cell Significance Index: -3.7100
Cell Name: cell in vitro (CL0001034)
Fold Change: 1.2979
Cell Significance Index: 708.8100
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.0540
Cell Significance Index: 14.3800
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.8384
Cell Significance Index: 22.4700
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.5019
Cell Significance Index: 3.1100
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.3927
Cell Significance Index: 74.7300
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.2772
Cell Significance Index: 6.0700
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.2660
Cell Significance Index: 5.6900
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.2597
Cell Significance Index: 15.5900
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.2548
Cell Significance Index: 11.5500
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.2542
Cell Significance Index: 7.3300
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.2499
Cell Significance Index: 5.2300
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.2288
Cell Significance Index: 206.6200
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.2149
Cell Significance Index: 10.0200
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.2104
Cell Significance Index: 28.9000
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.2063
Cell Significance Index: 24.0400
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.2010
Cell Significance Index: 10.4400
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.1997
Cell Significance Index: 5.5800
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1919
Cell Significance Index: 34.6000
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1867
Cell Significance Index: 22.9600
Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.1794
Cell Significance Index: 1.9500
Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1655
Cell Significance Index: 16.3700
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.1642
Cell Significance Index: 17.8600
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.1592
Cell Significance Index: 2.6700
Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.1553
Cell Significance Index: 9.7900
Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: 0.1546
Cell Significance Index: 17.6500
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.1159
Cell Significance Index: 18.8500
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.1116
Cell Significance Index: 2.7900
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0682
Cell Significance Index: 13.6900
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0544
Cell Significance Index: 10.8000
Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.0508
Cell Significance Index: 3.2800
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0392
Cell Significance Index: 5.0300
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.0391
Cell Significance Index: 3.9900
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0285
Cell Significance Index: 1.0000
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.0259
Cell Significance Index: 0.6800
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0222
Cell Significance Index: 3.7900
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.0146
Cell Significance Index: 1.0100
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 0.0117
Cell Significance Index: 1.3500
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0105
Cell Significance Index: 19.7300
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0082
Cell Significance Index: 2.9500
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0079
Cell Significance Index: 14.5000
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0071
Cell Significance Index: 11.0000
Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0025
Cell Significance Index: 1.5300
Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0028
Cell Significance Index: -1.2300
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0029
Cell Significance Index: -3.8900
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0037
Cell Significance Index: -2.8000
Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0048
Cell Significance Index: -0.2500
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0050
Cell Significance Index: -0.1600
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0051
Cell Significance Index: -3.7600
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0108
Cell Significance Index: -6.1000
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.0155
Cell Significance Index: -0.1600
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0172
Cell Significance Index: -10.9200
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0202
Cell Significance Index: -9.1700
Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0213
Cell Significance Index: -15.6200
Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0267
Cell Significance Index: -5.6300
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.0405
Cell Significance Index: -0.8400
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0407
Cell Significance Index: -5.9100
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0408
Cell Significance Index: -4.8100
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: -0.0431
Cell Significance Index: -0.4500
Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.0481
Cell Significance Index: -1.6700
Cell Name: lactocyte (CL0002325)
Fold Change: -0.0591
Cell Significance Index: -7.6300
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.0716
Cell Significance Index: -3.6200
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: -0.0834
Cell Significance Index: -0.5000
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1028
Cell Significance Index: -5.7700
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1132
Cell Significance Index: -8.4400
Cell Name: pro-T cell (CL0000827)
Fold Change: -0.1245
Cell Significance Index: -3.1800
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.1319
Cell Significance Index: -10.1200
Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.1379
Cell Significance Index: -9.7500
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.1400
Cell Significance Index: -5.7400
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1467
Cell Significance Index: -15.2700
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1468
Cell Significance Index: -6.9000
Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.1493
Cell Significance Index: -2.2500
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.1502
Cell Significance Index: -4.0100
Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.1594
Cell Significance Index: -3.8900
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.1653
Cell Significance Index: -1.1200
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.1860
Cell Significance Index: -4.0300
Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.2175
Cell Significance Index: -13.3700
Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.2192
Cell Significance Index: -14.7400
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.2194
Cell Significance Index: -5.6400
Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.2299
Cell Significance Index: -2.7400
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.2300
Cell Significance Index: -14.1000
Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2422
Cell Significance Index: -19.1800
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.2486
Cell Significance Index: -4.6000
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.2528
Cell Significance Index: -6.8800
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.2538
Cell Significance Index: -6.7900
Cell Name: kidney cell (CL1000497)
Fold Change: -0.2568
Cell Significance Index: -2.0500
Cell Name: melanocyte of skin (CL1000458)
Fold Change: -0.2654
Cell Significance Index: -3.7200
Cell Name: preadipocyte (CL0002334)
Fold Change: -0.2762
Cell Significance Index: -5.3900

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:** 1. **Structural Composition:** U2AF1 is a trimeric protein composed of three subunits, each with a distinct domain structure. The RuvK-like domain is responsible for the recognition and binding of the U2 small nuclear RNA (snRNA), while the RS domain facilitates the interaction with the U4/U6.U5 tri-snRNP complex. 2. **RNA Binding:** U2AF1 exhibits high affinity for U2 snRNA, which is a critical component of the spliceosome. This interaction is essential for the recognition and binding of specific sequences within the pre-mRNA. 3. **Cellular Expression:** U2AF1 is expressed in various cell types, including erythroblasts, stem cells, peripheral nervous system neurons, and immune cells, such as CD4+ T cells and basophils. **Pathways and Functions:** 1. **RNA Splicing:** U2AF1 plays a central role in the splicing process by interacting with the U2 snRNA and the U4/U6.U5 tri-snRNP complex. This interaction enables the recognition and binding of specific sequences within the pre-mRNA, facilitating the removal of introns and the joining of exons. 2. **Cajal Body Formation:** U2AF1 is also involved in the formation of Cajal bodies, which are nuclear structures responsible for the synthesis and assembly of U4/U6.U5 tri-snRNP complexes. 3. **Gene Expression Regulation:** U2AF1 influences gene expression by regulating the levels of mature mRNA produced from pre-mRNA. Aberrant expression of U2AF1 has been linked to various diseases, including cancer and immunological disorders. **Clinical Significance:** 1. **Cancer Association:** Altered expression of U2AF1 has been observed in various types of cancer, including leukemia, lymphoma, and solid tumors. This suggests that U2AF1 may play a role in tumorigenesis and cancer progression. 2. **Immunological Disorders:** U2AF1 is highly expressed in immune cells, and alterations in its expression have been linked to immunological disorders, such as autoimmune diseases and immunodeficiency syndromes. 3. **Neurological Disorders:** U2AF1 has also been implicated in neurological disorders, including Alzheimer's disease and frontotemporal dementia, highlighting its potential role in the regulation of gene expression and neuronal function. In conclusion, U2AF1 is a crucial component of the spliceosome complex, playing a vital role in RNA processing and gene expression regulation. Its aberrant expression has been linked to various diseases, underscoring the importance of this gene in maintaining cellular homeostasis and regulating gene expression. Further studies are necessary to fully elucidate the mechanisms by which U2AF1 influences gene expression and its clinical significance in human diseases.

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.

Q7Z780_HUMAN

Genular Protein ID: 2190342922

Symbol: Q7Z780_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q7Z780

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: 167
Mass: 19814
Checksum: 2AEA59F8CD4DC36B
Sequence:

MQEHYDEFFE EVFTEMEEKY REVEEMNVCD NLGDHLVGNV YVKFRREEDA EKAVIDLNNR 
WFNGQPIHAE LSPVTDFREA CCRQYEMGEC TRGGFCNFMH LKPISRELRR ELYGRRRKKH 
RSRSRSRERR SRSRDRGRGG GGGGGGGGGG RERDRRRSRD RERSGRF

Database document: