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Aliases for RAPGEFL1 Gene

Aliases for RAPGEFL1 Gene

  • Rap Guanine Nucleotide Exchange Factor Like 1 2 3 5
  • Link Guanine Nucleotide Exchange Factor II 2 3 4
  • Rap Guanine Nucleotide Exchange Factor (GEF)-Like 1 2 3
  • Link GEFII 3 4
  • RAP Guanine-Nucleotide-Exchange Factor (GEF)-Like 1 2
  • Rap Guanine Nucleotide Exchange Factor-Like 1 3
  • Link-GEFII 3

External Ids for RAPGEFL1 Gene

Previous GeneCards Identifiers for RAPGEFL1 Gene

  • GC17P038710
  • GC17P035588
  • GC17P038333
  • GC17P034127

Summaries for RAPGEFL1 Gene

GeneCards Summary for RAPGEFL1 Gene

RAPGEFL1 (Rap Guanine Nucleotide Exchange Factor Like 1) is a Protein Coding gene. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and signal transducer activity, downstream of receptor. An important paralog of this gene is RAPGEF5.

UniProtKB/Swiss-Prot for RAPGEFL1 Gene

  • Probable guanine nucleotide exchange factor (GEF).

Additional gene information for RAPGEFL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPGEFL1 Gene

Genomics for RAPGEFL1 Gene

Regulatory Elements for RAPGEFL1 Gene

Enhancers for RAPGEFL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H040217 1.5 FANTOM5 ENCODE 19.6 +42.1 42111 2.8 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MED1 CDK12 SMARCE1 RAPGEFL1 LOC105371776 PGAP3 MSL1 STARD3 IGFBP4 ENSG00000266208
GH17H040061 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.7 -107.7 -107715 14.8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 MED24 MED1 GSDMA SMARCE1 MSL1 RAPGEFL1 PSMD3 TCAP ORMDL3 THRA
GH17H040337 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +168.1 168141 15.1 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 FOS SP3 SP5 RARA MSL1 MED1 SMARCE1 RAPGEFL1 CDK12 ENSG00000266208 RARA-AS1 WIPF2 CASC3
GH17H040432 1.2 Ensembl ENCODE dbSUPER 18.8 +256.5 256535 1.5 BCOR CTCF PKNOX1 ZMYM3 RAD21 CC2D1A ZFHX2 GATA2 ZNF143 PRDM10 RAPGEFL1 CDC6 ENSG00000266208 RARA-AS1 GC17M040441 GC17M040417
GH17H039673 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6.7 -499.4 -499353 7.4 HDGF PKNOX1 ARID4B DMAP1 ZNF121 GLIS2 ATF7 SP3 SP5 MXD4 PGAP3 STARD3 NEUROD2 RAPGEFL1 ORMDL3 ERBB2 GRB7 GSDMB PNMT GC17P039685
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAPGEFL1 on UCSC Golden Path with GeneCards custom track

Promoters for RAPGEFL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094044 790 801 HDGF CTCF MXI1 RB1 BACH1 MAX CCNT2 CTBP1 EGR1 POLR2A

Genomic Locations for RAPGEFL1 Gene

Genomic Locations for RAPGEFL1 Gene
chr17:40,177,010-40,195,656
(GRCh38/hg38)
Size:
18,647 bases
Orientation:
Plus strand
chr17:38,333,263-38,351,908
(GRCh37/hg19)

Genomic View for RAPGEFL1 Gene

Genes around RAPGEFL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPGEFL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPGEFL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPGEFL1 Gene

Proteins for RAPGEFL1 Gene

  • Protein details for RAPGEFL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHV5-RPGFL_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor-like 1
    Protein Accession:
    Q9UHV5

    Protein attributes for RAPGEFL1 Gene

    Size:
    662 amino acids
    Molecular mass:
    73265 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAG36274.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAPGEFL1 Gene

    Alternative splice isoforms for RAPGEFL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAPGEFL1 Gene

Post-translational modifications for RAPGEFL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAPGEFL1 Gene

Domains & Families for RAPGEFL1 Gene

Gene Families for RAPGEFL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RAPGEFL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RAPGEFL1: view

No data available for UniProtKB/Swiss-Prot for RAPGEFL1 Gene

Function for RAPGEFL1 Gene

Molecular function for RAPGEFL1 Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor (GEF).

Phenotypes From GWAS Catalog for RAPGEFL1 Gene

Gene Ontology (GO) - Molecular Function for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with RAPGEFL1: view
genes like me logo Genes that share phenotypes with RAPGEFL1: view

Animal Models for RAPGEFL1 Gene

MGI Knock Outs for RAPGEFL1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAPGEFL1 Gene

Localization for RAPGEFL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAPGEFL1 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0016020 membrane TAS 9582122
genes like me logo Genes that share ontologies with RAPGEFL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RAPGEFL1 Gene

Pathways & Interactions for RAPGEFL1 Gene

SuperPathways for RAPGEFL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 9582122
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007399 nervous system development TAS 9789079
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RAPGEFL1: view

No data available for Pathways by source and SIGNOR curated interactions for RAPGEFL1 Gene

Drugs & Compounds for RAPGEFL1 Gene

(3) Drugs for RAPGEFL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RAPGEFL1: view

Transcripts for RAPGEFL1 Gene

Unigene Clusters for RAPGEFL1 Gene

Rap guanine nucleotide exchange factor (GEF)-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEFL1 Gene

No ASD Table

Relevant External Links for RAPGEFL1 Gene

GeneLoc Exon Structure for
RAPGEFL1
ECgene alternative splicing isoforms for
RAPGEFL1

Expression for RAPGEFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAPGEFL1 Gene

mRNA differential expression in normal tissues according to GTEx for RAPGEFL1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x7.4), Skin - Not Sun Exposed (Suprapubic) (x7.0), and Esophagus - Mucosa (x6.3).

Protein differential expression in normal tissues from HIPED for RAPGEFL1 Gene

This gene is overexpressed in Esophagus (39.2) and Heart (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RAPGEFL1 Gene



Protein tissue co-expression partners for RAPGEFL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAPGEFL1 Gene:

RAPGEFL1

SOURCE GeneReport for Unigene cluster for RAPGEFL1 Gene:

Hs.632254

Evidence on tissue expression from TISSUES for RAPGEFL1 Gene

  • Nervous system(3.3)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with RAPGEFL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAPGEFL1 Gene

Orthologs for RAPGEFL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPGEFL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAPGEFL1 33 34
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia RAPGEFL1 33 34
  • 92.91 (n)
dog
(Canis familiaris)
Mammalia RAPGEFL1 33 34
  • 92.25 (n)
mouse
(Mus musculus)
Mammalia Rapgefl1 16 34 33
  • 89.04 (n)
rat
(Rattus norvegicus)
Mammalia Rapgefl1 33
  • 88.43 (n)
oppossum
(Monodelphis domestica)
Mammalia RAPGEFL1 34
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAPGEFL1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rapgefl1 33
  • 68.57 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100149497 33
  • 63.33 (n)
RAPGEFL1 34
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Epac 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea epac-1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
OneToMany
Species where no ortholog for RAPGEFL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAPGEFL1 Gene

ENSEMBL:
Gene Tree for RAPGEFL1 (if available)
TreeFam:
Gene Tree for RAPGEFL1 (if available)

Paralogs for RAPGEFL1 Gene

(5) SIMAP similar genes for RAPGEFL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with RAPGEFL1: view

Variants for RAPGEFL1 Gene

Sequence variations from dbSNP and Humsavar for RAPGEFL1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs864622033 Uncertain significance 40,188,883(+) GAACC(A/G)GCCAC reference, missense
rs1000002518 -- 40,175,807(+) ACAGG(C/T)GTGAG upstream-variant-2KB
rs1000202385 -- 40,195,833(+) GGGCA(C/G)ATCAC downstream-variant-500B
rs1000212969 -- 40,179,256(+) GAGAC(-/AG)GGGTT intron-variant, upstream-variant-2KB
rs1000245370 -- 40,179,573(+) TAAAT(G/T)ATGAT intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for RAPGEFL1 Gene

Variant ID Type Subtype PubMed ID
nsv833444 CNV loss 17160897
nsv525796 CNV gain 19592680
nsv1146669 OTHER inversion 26484159

Variation tolerance for RAPGEFL1 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAPGEFL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAPGEFL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEFL1 Gene

Disorders for RAPGEFL1 Gene

Relevant External Links for RAPGEFL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAPGEFL1

No disorders were found for RAPGEFL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAPGEFL1 Gene

Publications for RAPGEFL1 Gene

  1. Screening aberrant methylation profile in esophageal squamous cell carcinoma for Kazakhs in Xinjiang area of China. (PMID: 25304811) Chen Y … Tian W (Molecular biology reports 2015) 3 60
  2. Estimation of the fraction of cancer cells in a tumor DNA sample using DNA methylation. (PMID: 24312652) Takahashi T … Ushijima T (PloS one 2013) 3 60
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 60
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 60
  5. Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (PMID: 20706999) Brieger A … Trojan J (Proteomics 2010) 3 60

Products for RAPGEFL1 Gene

Sources for RAPGEFL1 Gene

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