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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
  • Rap Guanine Nucleotide Exchange Factor (GEF)-Like 1 2 3
  • Link GEFII 3 4
  • 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 receptor signaling protein activity. An important paralog of this gene is RASGEF1A.

UniProtKB/Swiss-Prot for RAPGEFL1 Gene

  • Probable guanine nucleotide exchange factor (GEF).

No data available for Entrez Gene 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

Promoters for RAPGEFL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAPGEFL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAPGEFL1 Gene

Chromosome:
17
Start:
40,177,010 bp from pter
End:
40,195,656 bp from pter
Size:
18,647 bases
Orientation:
Plus strand

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

Proteomics data for RAPGEFL1 Gene at MOPED

Post-translational modifications for RAPGEFL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for RAPGEFL1 Gene

Domains & Families for RAPGEFL1 Gene

Protein Domains for RAPGEFL1 Gene

Suggested Antigen Peptide Sequences for RAPGEFL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHV5

UniProtKB/Swiss-Prot:

RPGFL_HUMAN :
  • Contains 1 Ras-GEF domain.
Domain:
  • Contains 1 Ras-GEF domain.
genes like me logo Genes that share domains with RAPGEFL1: view

No data available for Gene Families for RAPGEFL1 Gene

Function for RAPGEFL1 Gene

Molecular function for RAPGEFL1 Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor (GEF).
genes like me logo Genes that share phenotypes with RAPGEFL1: view

Animal Models for RAPGEFL1 Gene

MGI Knock Outs for RAPGEFL1:

Animal Model Products

CRISPR Products

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

Localization for RAPGEFL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAPGEFL1 Gene COMPARTMENTS Subcellular localization image for RAPGEFL1 gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RAPGEFL1 Gene

Pathways & Interactions for RAPGEFL1 Gene

SuperPathways for RAPGEFL1 Gene

No Data Available

Interacting Proteins for RAPGEFL1 Gene

Selected Interacting proteins: Q9UHV5-RPGFL_HUMAN for RAPGEFL1 Gene via I2D

Symbol External ID(s) Details
MLH1

Gene Ontology (GO) - Biological Process for RAPGEFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007399 nervous system development TAS 9789079
GO:0043547 positive regulation of GTPase activity IEA,TAS 9582122
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:

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 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 and MOPED for RAPGEFL1 Gene



SOURCE GeneReport for Unigene cluster for RAPGEFL1 Gene Hs.632254

genes like me logo Genes that share expression patterns with RAPGEFL1: view

Protein tissue co-expression partners for RAPGEFL1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RAPGEFL1 35
  • 92.91 (n)
  • 97.37 (a)
RAPGEFL1 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAPGEFL1 35
  • 92.25 (n)
  • 97.59 (a)
RAPGEFL1 36
  • 43 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rapgefl1 35
  • 89.04 (n)
  • 96.49 (a)
Rapgefl1 16
Rapgefl1 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAPGEFL1 35
  • 99.56 (n)
  • 99.56 (a)
RAPGEFL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rapgefl1 35
  • 88.43 (n)
  • 95.53 (a)
oppossum
(Monodelphis domestica)
Mammalia RAPGEFL1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAPGEFL1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rapgefl1 35
  • 68.57 (n)
  • 73.63 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100149497 35
  • 63.33 (n)
  • 61.11 (a)
RAPGEFL1 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Epac 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea epac-1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for RAPGEFL1:
  • 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
rs2314338 -- 40,188,233(+) CTTCC(C/T)GCTTT intron-variant
rs4254375 -- 40,194,307(-) GAGCA(A/C/G/T)GAGTG utr-variant-3-prime
rs3744806 -- 40,195,374(-) GAGGA(C/G)AGTGC utr-variant-3-prime
rs4992171 -- 40,182,293(+) GAGCC(A/C)TGTAC intron-variant
rs7221536 -- 40,194,478(+) CCAAG(C/G)TGCTT utr-variant-3-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

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

HapMap Linkage Disequilibrium report
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. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 67
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  3. Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (PMID: 20706999) Brieger A. … Trojan J. (Proteomics 2010) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. RasGRP, a Ras guanyl nucleotide- releasing protein with calcium- and diacylglycerol-binding motifs. (PMID: 9582122) Ebinu J.O. … Stone J.C. (Science 1998) 3

Products for RAPGEFL1 Gene

Sources for RAPGEFL1 Gene

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