Details for: ARFGEF1

Gene ID: 10565

Symbol: ARFGEF1

Ensembl ID: ENSG00000066777

Description: ADP ribosylation factor 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: anterior lens cell (CL0002223)
    Fold Change: 2.98
    Marker Score: 4,002
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.81
    Marker Score: 3,402
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.7
    Marker Score: 11,289
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.68
    Marker Score: 2,066
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.58
    Marker Score: 57,735
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.57
    Marker Score: 2,222
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.48
    Marker Score: 5,454
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.46
    Marker Score: 1,436
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.42
    Marker Score: 2,149
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.4
    Marker Score: 1,669
  • Cell Name: interneuron (CL0000099)
    Fold Change: 2.35
    Marker Score: 1,072
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.28
    Marker Score: 1,201
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.24
    Marker Score: 85,113
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.24
    Marker Score: 1,305
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.23
    Marker Score: 44,273
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.2
    Marker Score: 9,113
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.2
    Marker Score: 2,426
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.19
    Marker Score: 4,223
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.19
    Marker Score: 2,515
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.17
    Marker Score: 625
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.16
    Marker Score: 32,362
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.14
    Marker Score: 5,366
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.14
    Marker Score: 78,893
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.13
    Marker Score: 621
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.12
    Marker Score: 16,216
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.11
    Marker Score: 668
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.1
    Marker Score: 44,750
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.07
    Marker Score: 1,387
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.02
    Marker Score: 7,809
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.01
    Marker Score: 841
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.01
    Marker Score: 9,284
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.97
    Marker Score: 1,097
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.94
    Marker Score: 2,097
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.92
    Marker Score: 2,393
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.92
    Marker Score: 118,070
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.9
    Marker Score: 1,132
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.9
    Marker Score: 17,835
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.89
    Marker Score: 1,425
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.87
    Marker Score: 2,113
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.83
    Marker Score: 18,935
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.8
    Marker Score: 17,149
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.8
    Marker Score: 1,005
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.77
    Marker Score: 31,473
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.77
    Marker Score: 682
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.76
    Marker Score: 7,168
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.75
    Marker Score: 15,053
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.74
    Marker Score: 645
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.74
    Marker Score: 1,767
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.73
    Marker Score: 4,130
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.71
    Marker Score: 6,068
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.71
    Marker Score: 1,627
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.7
    Marker Score: 1,789
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.69
    Marker Score: 614
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.68
    Marker Score: 534
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1.67
    Marker Score: 903
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.64
    Marker Score: 814
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.63
    Marker Score: 949
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.62
    Marker Score: 6,772
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.62
    Marker Score: 4,618
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.6
    Marker Score: 8,380
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.59
    Marker Score: 2,339
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.59
    Marker Score: 2,307
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.59
    Marker Score: 540
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.58
    Marker Score: 25,382
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.57
    Marker Score: 1,947
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.56
    Marker Score: 1,668
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.54
    Marker Score: 420
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.54
    Marker Score: 746
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.52
    Marker Score: 482
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.51
    Marker Score: 385
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.51
    Marker Score: 2,138
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.51
    Marker Score: 2,328
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.5
    Marker Score: 5,322
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.49
    Marker Score: 1,803
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.48
    Marker Score: 535
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.45
    Marker Score: 717
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.44
    Marker Score: 540
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.43
    Marker Score: 427
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.43
    Marker Score: 288
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.43
    Marker Score: 3,598
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.42
    Marker Score: 795
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.4
    Marker Score: 4,698
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.39
    Marker Score: 3,418
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.37
    Marker Score: 904
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.37
    Marker Score: 1,190
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.37
    Marker Score: 1,718
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.37
    Marker Score: 433
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.36
    Marker Score: 7,323
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.36
    Marker Score: 4,683
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.36
    Marker Score: 1,916
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.35
    Marker Score: 3,608
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.33
    Marker Score: 641
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.32
    Marker Score: 45,785
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.32
    Marker Score: 497
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.31
    Marker Score: 341
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.3
    Marker Score: 1,513
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.28
    Marker Score: 520
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.28
    Marker Score: 43,216
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.28
    Marker Score: 1,649
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 1.25
    Marker Score: 540

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:** ARFGEF1 is a member of the BIG (Brefeldin A-inhibited guanine nucleotide-exchange protein) family of GEFs, which are characterized by their ability to regulate ARF protein activity. The gene is primarily expressed in epithelial cells, including those found in the lens, prostate, and kidney. Notably, ARFGEF1 is also expressed in cardiac myocytes, suggesting its involvement in cardiovascular function. **Pathways and Functions:** ARFGEF1 is involved in various signaling pathways, including: 1. **Regulation of ARF protein signal transduction:** ARFGEF1 facilitates the activation of ARF proteins, which in turn regulate a range of cellular processes, including endomembrane organization, exocytosis, and protein transport. 2. **Golgi apparatus organization:** ARFGEF1 helps maintain the structure and function of the Golgi apparatus, a critical organelle involved in protein modification and secretion. 3. **Wound healing:** ARFGEF1 promotes wound healing by regulating the activation of ARF proteins, which are involved in the organization of the cytoskeleton and the regulation of cell polarity. 4. **Protein transport:** ARFGEF1 facilitates the transport of proteins between the Golgi apparatus and the plasma membrane, ensuring proper protein localization and function. **Clinical Significance:** Dysregulation of ARFGEF1 has been implicated in various diseases, including: 1. **Lens-related disorders:** Mutations in ARFGEF1 have been associated with lens-related disorders, such as cataracts and glaucoma. 2. **Prostate cancer:** Overexpression of ARFGEF1 has been observed in prostate cancer, suggesting its potential role as a tumor suppressor gene. 3. **Cardiovascular disease:** ARFGEF1 may play a role in regulating cardiac myocyte function and responding to cardiovascular stress. In conclusion, ARFGEF1 is a multifaceted gene that plays a critical role in regulating various cellular processes, including cell polarity, wound healing, and protein transport. Its dysregulation has been implicated in a range of diseases, highlighting the importance of further research into the functions and clinical significance of this gene.

Genular Protein ID: 3786793393

Symbol: BIG1_HUMAN

Name: Brefeldin A-inhibited guanine nucleotide-exchange protein 1

UniProtKB Accession Codes:

Q9Y6D6 Q9NV46 Q9UFV2 Q9UNL0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 4 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 22 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 3 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10212200

Title: Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors.

PubMed ID: 10212200

DOI: 10.1074/jbc.274.18.12308

PubMed ID: 10393931

Title: p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A.

PubMed ID: 10393931

DOI: 10.1073/pnas.96.14.7968

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 23572552

Title: ACBD3 interaction with TBC1 domain 22 protein is differentially affected by enteroviral and kobuviral 3A protein binding.

PubMed ID: 23572552

DOI: 10.1128/mbio.00098-13

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: 10716990

Title: Identification and localization of two brefeldin A-inhibited guanine nucleotide-exchange proteins for ADP-ribosylation factors in a macromolecular complex.

PubMed ID: 10716990

DOI: 10.1073/pnas.97.6.2567

PubMed ID: 12571360

Title: Protein kinase A-anchoring (AKAP) domains in brefeldin A-inhibited guanine nucleotide-exchange protein 2 (BIG2).

PubMed ID: 12571360

DOI: 10.1073/pnas.0337678100

PubMed ID: 12606707

Title: Interaction of FK506-binding protein 13 with brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1): effects of FK506.

PubMed ID: 12606707

DOI: 10.1073/pnas.2628047100

PubMed ID: 14973189

Title: Nuclear localization and molecular partners of BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors.

PubMed ID: 14973189

DOI: 10.1073/pnas.0307345101

PubMed ID: 15644318

Title: BIG1 is a binding partner of myosin IXb and regulates its Rho-GTPase activating protein activity.

PubMed ID: 15644318

DOI: 10.1074/jbc.m413415200

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16467138

Title: Effect of protein kinase A on accumulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) in HepG2 cell nuclei.

PubMed ID: 16467138

DOI: 10.1073/pnas.0510571103

PubMed ID: 17640864

Title: Interactions between conserved domains within homodimers in the BIG1, BIG2, and GBF1 Arf guanine nucleotide exchange factors.

PubMed ID: 17640864

DOI: 10.1074/jbc.m705525200

PubMed ID: 17227842

Title: BIG1, a brefeldin A-inhibited guanine nucleotide-exchange protein, is required for correct glycosylation and function of integrin beta1.

PubMed ID: 17227842

DOI: 10.1073/pnas.0610535104

PubMed ID: 17360629

Title: Regulation of brefeldin A-inhibited guanine nucleotide-exchange protein 1 (BIG1) and BIG2 activity via PKA and protein phosphatase 1gamma.

PubMed ID: 17360629

DOI: 10.1073/pnas.0611696104

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18292223

Title: Association of guanine nucleotide-exchange protein BIG1 in HepG2 cell nuclei with nucleolin, U3 snoRNA, and fibrillarin.

PubMed ID: 18292223

DOI: 10.1073/pnas.0712387105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19651892

Title: A role of histone H3 lysine 4 methyltransferase components in endosomal trafficking.

PubMed ID: 19651892

DOI: 10.1083/jcb.200902146

PubMed ID: 19332778

Title: Interaction of phosphodiesterase 3A with brefeldin A-inhibited guanine nucleotide-exchange proteins BIG1 and BIG2 and effect on ARF1 activity.

PubMed ID: 19332778

DOI: 10.1073/pnas.0901558106

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: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22084092

Title: Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing.

PubMed ID: 22084092

DOI: 10.1073/pnas.1117011108

PubMed ID: 20360857

Title: Specific functions of BIG1 and BIG2 in endomembrane organization.

PubMed ID: 20360857

DOI: 10.1371/journal.pone.0009898

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: 31678406

Title: Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors.

PubMed ID: 31678406

DOI: 10.1016/j.nbd.2019.104632

PubMed ID: 27373159

Title: Structural Insights into Arl1-Mediated Targeting of the Arf-GEF BIG1 to the trans-Golgi.

PubMed ID: 27373159

DOI: 10.1016/j.celrep.2016.06.022

PubMed ID: 27436755

Title: Structural basis for targeting BIG1 to Golgi apparatus through interaction of its DCB domain with Arl1.

PubMed ID: 27436755

DOI: 10.1093/jmcb/mjw033

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 34113008

Title: Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

PubMed ID: 34113008

DOI: 10.1038/s41436-021-01218-6

Sequence Information:

  • Length: 1849
  • Mass: 208767
  • Checksum: 1EB2547F28F63BCA
  • Sequence:
    • MYEGKKTKNM FLTRALEKIL ADKEVKKAHH SQLRKACEVA LEEIKAETEK QSPPHGEAKA 
GSSTLPPVKS KTNFIEADKY FLPFELACQS KCPRIVSTSL DCLQKLIAYG HLTGNAPDST 
TPGKKLIDRI IETICGCFQG PQTDEGVQLQ IIKALLTAVT SQHIEIHEGT VLQAVRTCYN 
IYLASKNLIN QTTAKATLTQ MLNVIFARME NQALQEAKQM EKERHRQHHH LLQSPVSHHE 
PESPQLRYLP PQTVDHISQE HEGDLDLHTN DVDKSLQDDT EPENGSDISS AENEQTEADQ 
ATAAETLSKN EVLYDGENHD CEEKPQDIVQ NIVEEMVNIV VGDMGEGTTI NASADGNIGT 
IEDGSDSENI QANGIPGTPI SVAYTPSLPD DRLSVSSNDT QESGNSSGPS PGAKFSHILQ 
KDAFLVFRSL CKLSMKPLSD GPPDPKSHEL RSKILSLQLL LSILQNAGPI FRTNEMFINA 
IKQYLCVALS KNGVSSVPEV FELSLSIFLT LLSNFKTHLK MQIEVFFKEI FLYILETSTS 
SFDHKWMVIQ TLTRICADAQ SVVDIYVNYD CDLNAANIFE RLVNDLSKIA QGRGSQELGM 
SNVQELSLRK KGLECLVSIL KCMVEWSKDQ YVNPNSQTTL GQEKPSEQEM SEIKHPETIN 
RYGSLNSLES TSSSGIGSYS TQMSGTDNPE QFEVLKQQKE IIEQGIDLFN KKPKRGIQYL 
QEQGMLGTTP EDIAQFLHQE ERLDSTQVGE FLGDNDKFNK EVMYAYVDQH DFSGKDFVSA 
LRMFLEGFRL PGEAQKIDRL MEKFAARYLE CNQGQTLFAS ADTAYVLAYS IIMLTTDLHS 
PQVKNKMTKE QYIKMNRGIN DSKDLPEEYL SAIYNEIAGK KISMKETKEL TIPTKSSKQN 
VASEKQRRLL YNLEMEQMAK TAKALMEAVS HVQAPFTSAT HLEHVRPMFK LAWTPFLAAF 
SVGLQDCDDT EVASLCLEGI RCAIRIACIF SIQLERDAYV QALARFTLLT VSSGITEMKQ 
KNIDTIKTLI TVAHTDGNYL GNSWHEILKC ISQLELAQLI GTGVKPRYIS GTVRGREGSL 
TGTKDQAPDE FVGLGLVGGN VDWKQIASIQ ESIGETSSQS VVVAVDRIFT GSTRLDGNAI 
VDFVRWLCAV SMDELLSTTH PRMFSLQKIV EISYYNMGRI RLQWSRIWEV IGDHFNKVGC 
NPNEDVAIFA VDSLRQLSMK FLEKGELANF RFQKDFLRPF EHIMKRNRSP TIRDMVVRCI 
AQMVNSQAAN IRSGWKNIFS VFHLAASDQD ESIVELAFQT TGHIVTLVFE KHFPATIDSF 
QDAVKCLSEF ACNAAFPDTS MEAIRLIRHC AKYVSDRPQA FKEYTSDDMN VAPEDRVWVR 
GWFPILFELS CIINRCKLDV RTRGLTVMFE IMKTYGHTYE KHWWQDLFRI VFRIFDNMKL 
PEQQTEKAEW MTTTCNHALY AICDVFTQYL EVLSDVLLDD IFAQLYWCVQ QDNEQLARSG 
TNCLENVVIL NGEKFTLEIW DKTCNCTLDI FKTTIPHALL TWRPNSGETA PPPPSPVSEK 
PLDTISQKSV DIHDSIQPRS VDNRPQAPLV SASAVNEEVS KIKSTAKFPE QKLFAALLIK 
CVVQLELIQT IDNIVFFPAT SKKEDAENLA AAQRDAVDFD VRVDTQDQGM YRFLTSQQLF 
KLLDCLLESH RFAKAFNSNN EQRTALWKAG FKGKSKPNLL KQETSSLACG LRILFRMYMD 
ESRVSAWEEV QQRLLNVCSE ALSYFLTLTS ESHREAWTNL LLLFLTKVLK ISDNRFKAHA 
SFYYPLLCEI MQFDLIPELR AVLRRFFLRI GVVFQISQPP EQELGINKQ

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.