Details for: RAPGEF1

Gene ID: 2889

Symbol: RAPGEF1

Ensembl ID: ENSG00000107263

Description: Rap guanine nucleotide exchange factor 1

Associated with

Cells (max top 100)

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

  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 2.67
    Marker Score: 1,325
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.53
    Marker Score: 1,508
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.44
    Marker Score: 1,419
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.38
    Marker Score: 1,952
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.17
    Marker Score: 4,760
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 2.13
    Marker Score: 770
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 2.06
    Marker Score: 11,059
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.03
    Marker Score: 10,628
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.98
    Marker Score: 2,187
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.97
    Marker Score: 72,556
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.95
    Marker Score: 38,769
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.92
    Marker Score: 34,134
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.92
    Marker Score: 4,809
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.9
    Marker Score: 595
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.87
    Marker Score: 71,205
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.86
    Marker Score: 2,705
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.84
    Marker Score: 7,642
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.82
    Marker Score: 13,921
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.82
    Marker Score: 27,147
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.8
    Marker Score: 7,318
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.79
    Marker Score: 6,931
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.74
    Marker Score: 562
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.73
    Marker Score: 106,388
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.72
    Marker Score: 1,985
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.72
    Marker Score: 16,369
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.72
    Marker Score: 16,181
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.69
    Marker Score: 17,419
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.67
    Marker Score: 56,315
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.63
    Marker Score: 6,833
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.63
    Marker Score: 13,960
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.61
    Marker Score: 34,441
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.58
    Marker Score: 502
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.57
    Marker Score: 11,844
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.57
    Marker Score: 3,697
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.52
    Marker Score: 445
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.49
    Marker Score: 2,301
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.47
    Marker Score: 881
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.45
    Marker Score: 812
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.42
    Marker Score: 1,527
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.41
    Marker Score: 6,516
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.39
    Marker Score: 401
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.39
    Marker Score: 2,674
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.38
    Marker Score: 4,524
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.35
    Marker Score: 567
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.35
    Marker Score: 3,093
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.35
    Marker Score: 2,736
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.32
    Marker Score: 767
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.31
    Marker Score: 20,548
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.29
    Marker Score: 777
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.24
    Marker Score: 655
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.23
    Marker Score: 336
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.22
    Marker Score: 829
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.21
    Marker Score: 447
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.19
    Marker Score: 666
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.18
    Marker Score: 575
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.16
    Marker Score: 1,161
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.13
    Marker Score: 2,738
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.12
    Marker Score: 308
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.11
    Marker Score: 394
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.1
    Marker Score: 1,329
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.1
    Marker Score: 1,476
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.1
    Marker Score: 473
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.1
    Marker Score: 279
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.09
    Marker Score: 940
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.09
    Marker Score: 1,231
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.09
    Marker Score: 344
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.08
    Marker Score: 1,032
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.08
    Marker Score: 24,091
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.07
    Marker Score: 960
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.06
    Marker Score: 407
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.05
    Marker Score: 1,121
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.05
    Marker Score: 1,266
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.05
    Marker Score: 2,503
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.03
    Marker Score: 419
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.03
    Marker Score: 1,463
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.02
    Marker Score: 1,258
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.02
    Marker Score: 933
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.01
    Marker Score: 6,044
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1
    Marker Score: 6,433
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,635
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,860
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.99
    Marker Score: 4,287
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.99
    Marker Score: 414
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.99
    Marker Score: 25,364
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.99
    Marker Score: 1,231
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.98
    Marker Score: 310
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,381
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.98
    Marker Score: 1,036
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.97
    Marker Score: 844
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.97
    Marker Score: 2,772
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.97
    Marker Score: 3,256
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.97
    Marker Score: 477
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.97
    Marker Score: 909
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.96
    Marker Score: 1,613
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.95
    Marker Score: 1,060
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,391
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.94
    Marker Score: 184
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.93
    Marker Score: 208
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.93
    Marker Score: 468
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.93
    Marker Score: 315

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:

Q13905 Q5JUE4 Q68DL3 Q8IV73

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 5 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 19 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PROSITE 3 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 6 RefSeq 3 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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.