Details for: RAPGEF1

Gene ID: 2889

Symbol: RAPGEF1

Ensembl ID: ENSG00000107263

Description: Rap guanine nucleotide exchange factor 1

Associated with

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: 290.5907
    Cell Significance Index: -45.2000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 177.8876
    Cell Significance Index: -45.1200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 107.6593
    Cell Significance Index: -44.3500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 102.8546
    Cell Significance Index: -48.5600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 102.4105
    Cell Significance Index: -41.6100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 90.2436
    Cell Significance Index: -46.4200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 36.8059
    Cell Significance Index: -45.3800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 20.2733
    Cell Significance Index: -44.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.7833
    Cell Significance Index: -44.9600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 14.4427
    Cell Significance Index: -44.3600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.5964
    Cell Significance Index: -45.7600
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 9.4604
    Cell Significance Index: 136.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.4433
    Cell Significance Index: 65.2400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.9383
    Cell Significance Index: 73.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.9301
    Cell Significance Index: 85.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8509
    Cell Significance Index: 371.2800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7913
    Cell Significance Index: 355.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.4102
    Cell Significance Index: 505.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.3951
    Cell Significance Index: 35.8600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.1910
    Cell Significance Index: 66.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0276
    Cell Significance Index: 78.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0095
    Cell Significance Index: 181.9800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8856
    Cell Significance Index: 23.7300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7764
    Cell Significance Index: 536.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5852
    Cell Significance Index: 95.1800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.5645
    Cell Significance Index: 61.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4802
    Cell Significance Index: 433.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4625
    Cell Significance Index: 11.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4468
    Cell Significance Index: 27.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3801
    Cell Significance Index: 46.7400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.3771
    Cell Significance Index: 7.3600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3746
    Cell Significance Index: 22.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3318
    Cell Significance Index: 9.5600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2832
    Cell Significance Index: 19.0400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2773
    Cell Significance Index: 3.4400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1972
    Cell Significance Index: 3.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1947
    Cell Significance Index: 22.9600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1899
    Cell Significance Index: 13.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1885
    Cell Significance Index: 355.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1832
    Cell Significance Index: 83.1600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1758
    Cell Significance Index: 3.8500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1750
    Cell Significance Index: 111.1600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1705
    Cell Significance Index: 1.0300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1624
    Cell Significance Index: 3.9600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1299
    Cell Significance Index: 24.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1142
    Cell Significance Index: 7.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1087
    Cell Significance Index: 59.3500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0967
    Cell Significance Index: 9.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0757
    Cell Significance Index: 2.6600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0690
    Cell Significance Index: 106.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0631
    Cell Significance Index: 10.7700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0630
    Cell Significance Index: 116.2400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0494
    Cell Significance Index: 1.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0210
    Cell Significance Index: 9.3000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0033
    Cell Significance Index: -4.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0212
    Cell Significance Index: -13.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0264
    Cell Significance Index: -19.5800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0386
    Cell Significance Index: -28.2900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0547
    Cell Significance Index: -1.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0580
    Cell Significance Index: -43.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0608
    Cell Significance Index: -34.3100
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.1127
    Cell Significance Index: -0.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1298
    Cell Significance Index: -17.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1333
    Cell Significance Index: -13.6200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1391
    Cell Significance Index: -40.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1433
    Cell Significance Index: -30.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1524
    Cell Significance Index: -22.1600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1610
    Cell Significance Index: -3.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1956
    Cell Significance Index: -9.1200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2116
    Cell Significance Index: -27.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2512
    Cell Significance Index: -29.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2527
    Cell Significance Index: -28.9500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2559
    Cell Significance Index: -4.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2647
    Cell Significance Index: -12.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2752
    Cell Significance Index: -35.5500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2967
    Cell Significance Index: -33.8700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3189
    Cell Significance Index: -33.2000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3963
    Cell Significance Index: -11.3100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4853
    Cell Significance Index: -25.2800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4958
    Cell Significance Index: -36.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4997
    Cell Significance Index: -25.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5126
    Cell Significance Index: -40.6000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5377
    Cell Significance Index: -11.6500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5520
    Cell Significance Index: -8.1500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5542
    Cell Significance Index: -34.9300
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.5613
    Cell Significance Index: -8.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5767
    Cell Significance Index: -18.4700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5933
    Cell Significance Index: -31.1500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6012
    Cell Significance Index: -42.5200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6517
    Cell Significance Index: -13.8800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6698
    Cell Significance Index: -41.0700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.6724
    Cell Significance Index: -14.2700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7096
    Cell Significance Index: -22.6000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.7146
    Cell Significance Index: -32.3900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7168
    Cell Significance Index: -10.2700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.7450
    Cell Significance Index: -13.7700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7544
    Cell Significance Index: -24.7000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.7733
    Cell Significance Index: -11.1100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.7764
    Cell Significance Index: -11.4600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.7911
    Cell Significance Index: -16.4100

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.

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 cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** RAPGEF1 is characterized by its unique structure, which consists of an SH3 domain, a GEF domain, and a catalytic domain. The SH3 domain allows for protein-protein interactions, while the GEF domain is responsible for the exchange of GDP for GTP in Rap GTPases, activating them. The catalytic domain is essential for the GEF activity. RAPGEF1 is also known for its involvement in various signaling pathways, including those mediated by receptor tyrosine kinases, growth factors, and cytokines. **Pathways and Functions** RAPGEF1 is involved in numerous signaling pathways, including: 1. **Rap GTPase cycle**: RAPGEF1 activates Rap GTPases, which in turn regulate various cellular processes, such as cell migration, adhesion, and survival. 2. **Met signaling pathway**: RAPGEF1 is a positive regulator of the Met receptor tyrosine kinase, promoting cell motility and migration. 3. **Nerve growth factor signaling pathway**: RAPGEF1 is involved in the regulation of NGF-induced signaling, influencing neuronal development and survival. 4. **Cytokine signaling**: RAPGEF1 is involved in the signaling pathways of cytokines, such as IL-3, IL-5, and GM-CSF, which regulate immune responses. 5. **Endothelial barrier establishment**: RAPGEF1 is involved in the regulation of endothelial barrier function, which is critical for maintaining tissue homeostasis. **Clinical Significance** RAPGEF1 dysregulation has been implicated in various diseases, including: 1. **Neurological disorders**: Mutations in RAPGEF1 have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Cancer**: RAPGEF1 is overexpressed in various types of cancer, including breast, lung, and colon cancer, and is associated with poor prognosis. 3. **Immune system disorders**: RAPGEF1 is involved in the regulation of immune responses, and dysregulation has been implicated in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. In conclusion, RAPGEF1 is a critical gene involved in various cellular processes, including signaling pathways, cell migration, and development. Its dysregulation has been implicated in various diseases, highlighting the importance of RAPGEF1 in maintaining tissue homeostasis and regulating immune responses.

Genular Protein ID: 1410279526

Symbol: RPGF1_HUMAN

Name: Rap guanine nucleotide exchange factor 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7512734

Title: C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins.

PubMed ID: 7512734

DOI: 10.1073/pnas.91.8.3443

PubMed ID: 7806500

Title: Four proline-rich sequences of the guanine-nucleotide exchange factor C3G bind with unique specificity to the first Src homology 3 domain of Crk.

PubMed ID: 7806500

DOI: 10.1016/s0021-9258(20)30059-4

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

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

PubMed ID: 8662907

Title: Interaction between the amino-terminal SH3 domain of CRK and its natural target proteins.

PubMed ID: 8662907

DOI: 10.1074/jbc.271.24.14468

PubMed ID: 12432078

Title: Novel function of Chat in controlling cell adhesion via Cas-Crk-C3G-pathway-mediated Rap1 activation.

PubMed ID: 12432078

DOI: 10.1242/jcs.00207

PubMed ID: 14551197

Title: Physical and functional interaction between Hck tyrosine kinase and guanine nucleotide exchange factor C3G results in apoptosis, which is independent of C3G catalytic domain.

PubMed ID: 14551197

DOI: 10.1074/jbc.m310656200

PubMed ID: 15144186

Title: Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.

PubMed ID: 15144186

DOI: 10.1021/ac035352d

PubMed ID: 17724123

Title: Rap1-PDZ-GEF1 interacts with a neurotrophin receptor at late endosomes, leading to sustained activation of Rap1 and ERK and neurite outgrowth.

PubMed ID: 17724123

DOI: 10.1083/jcb.200610073

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21840392

Title: Epac1 and PDZ-GEF cooperate in Rap1 mediated endothelial junction control.

PubMed ID: 21840392

DOI: 10.1016/j.cellsig.2011.07.022

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 23033978

Title: Diagnostic exome sequencing in persons with severe intellectual disability.

PubMed ID: 23033978

DOI: 10.1056/nejmoa1206524

Sequence Information:

  • Length: 1077
  • Mass: 120548
  • Checksum: E700631A0EE76CA1
  • Sequence:
  • MDTDSQRSHL SSFTMKLMDK FHSPKIKRTP SKKGKPAEVS VKIPEKPVNK EATDRFLPEG 
    YPLPLDLEQQ AVEFMSTSAV ASRSQRQKNL SWLEEKEKEV VSALRYFKTI VDKMAIDKKV 
    LEMLPGSASK VLEAILPLVQ NDPRIQHSSA LSSCYSRVYQ SLANLIRWSD QVMLEGVNSE 
    DKEMVTTVKG VIKAVLDGVK ELVRLTIEKQ GRPSPTSPVK PSSPASKPDG PAELPLTDRE 
    VEILNKTTGM SQSTELLPDA TDEEVAPPKP PLPGIRVVDN SPPPALPPKK RQSAPSPTRV 
    AVVAPMSRAT SGSSLPVGIN RQDFDVDCYA QRRLSGGSHS YGGESPRLSP CSSIGKLSKS 
    DEQLSSLDRD SGQCSRNTSC ETLDHYDPDY EFLQQDLSNA DQIPQQTAWN LSPLPESLGE 
    SGSPFLGPPF QLPLGGHPQP DGPLAPGQQT DTPPALPEKK RRSAASQTAD GSGCRVSYER 
    HPSQYDNISG EDLQSTAPIP SVPYAPFAAI LPFQHGGSSA PVEFVGDFTA PESTGDPEKP 
    PPLPEKKNKH MLAYMQLLED YSEPQPSMFY QTPQNEHIYQ QKNKLLMEVY GFSDSFSGVD 
    SVQELAPPPA LPPKQRQLEP PAGKDGHPRD PSAVSGVPGK DSRDGSERAP KSPDALESAQ 
    SEEEVDELSL IDHNEIMSRL TLKQEGDDGP DVRGGSGDIL LVHATETDRK DLVLYCEAFL 
    TTYRTFISPE ELIKKLQYRY EKFSPFADTF KKRVSKNTFF VLVRVVDELC LVELTEEILK 
    LLMELVFRLV CNGELSLARV LRKNILDKVD QKKLLRCATS SQPLAARGVA ARPGTLHDFH 
    SHEIAEQLTL LDAELFYKIE IPEVLLWAKE QNEEKSPNLT QFTEHFNNMS YWVRSIIMLQ 
    EKAQDRERLL LKFIKIMKHL RKLNNFNSYL AILSALDSAP IRRLEWQKQT SEGLAEYCTL 
    IDSSSSFRAY RAALSEVEPP CIPYLGLILQ DLTFVHLGNP DYIDGKVNFS KRWQQFNILD 
    SMRCFQQAHY DMRRNDDIIN FFNDFSDHLA EEALWELSLK IKPRNITRRK TDREEKT

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.