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Aliases for RAPH1 Gene

Aliases for RAPH1 Gene

  • Ras Association (RalGDS/AF-6) And Pleckstrin Homology Domains 1 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 18 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 9 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 9 2 3
  • Proline-Rich EVH1 Ligand 2 3 4
  • Lamellipodin 3 4
  • ALS2CR18 3 4
  • ALS2CR9 3 4
  • PREL-2 3 4
  • PREL2 3 4
  • RMO1 3 4
  • LPD 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 18 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region 2
  • Candidate 18 2
  • Protein RMO1 4
  • RalGDS/AF-6 3
  • KIAA1681 4

External Ids for RAPH1 Gene

Previous HGNC Symbols for RAPH1 Gene

  • ALS2CR9
  • ALS2CR18

Previous GeneCards Identifiers for RAPH1 Gene

  • GC02M204503
  • GC02M204501
  • GC02M204124
  • GC02M204006
  • GC02M204259
  • GC02M196146

Summaries for RAPH1 Gene

GeneCards Summary for RAPH1 Gene

RAPH1 (Ras Association (RalGDS/AF-6) And Pleckstrin Homology Domains 1) is a Protein Coding gene. Diseases associated with RAPH1 include Amyotrophic Lateral Sclerosis 2, Juvenile and Rectal Disease. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is GRB14.

UniProtKB/Swiss-Prot for RAPH1 Gene

  • Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion.

Gene Wiki entry for RAPH1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPH1 Gene

Genomics for RAPH1 Gene

Regulatory Elements for RAPH1 Gene

Enhancers for RAPH1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAPH1 on UCSC Golden Path with GeneCards custom track

Promoters for RAPH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAPH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAPH1 Gene

Chromosome:
2
Start:
203,394,345 bp from pter
End:
203,535,410 bp from pter
Size:
141,066 bases
Orientation:
Minus strand

Genomic View for RAPH1 Gene

Genes around RAPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPH1 Gene

Proteins for RAPH1 Gene

  • Protein details for RAPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70E73-RAPH1_HUMAN
    Recommended name:
    Ras-associated and pleckstrin homology domains-containing protein 1
    Protein Accession:
    Q70E73
    Secondary Accessions:
    • Q96Q37
    • Q9C0I2

    Protein attributes for RAPH1 Gene

    Size:
    1250 amino acids
    Molecular mass:
    135256 Da
    Quaternary structure:
    • Interacts with EVL and VASP and targets them to the leading edge (PubMed:15469845). Interacts (via Ras associating and PH domains) with RAC1 (PubMed:18499456).

    Three dimensional structures from OCA and Proteopedia for RAPH1 Gene

    Alternative splice isoforms for RAPH1 Gene

neXtProt entry for RAPH1 Gene

Proteomics data for RAPH1 Gene at MOPED

Post-translational modifications for RAPH1 Gene

  • Ubiquitination at Lys 483
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAPH1 Gene

Domains & Families for RAPH1 Gene

Gene Families for RAPH1 Gene

Protein Domains for RAPH1 Gene

Suggested Antigen Peptide Sequences for RAPH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q70E73

UniProtKB/Swiss-Prot:

RAPH1_HUMAN :
  • Contains 1 PH domain.
  • Belongs to the MRL family.
Domain:
  • Contains 1 PH domain.
  • Contains 1 Ras-associating domain.
Family:
  • Belongs to the MRL family.
genes like me logo Genes that share domains with RAPH1: view

Function for RAPH1 Gene

Molecular function for RAPH1 Gene

UniProtKB/Swiss-Prot Function:
Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion.
UniProtKB/Swiss-Prot Induction:
Reduced expression in metastatic osteosarcomas compared to primary osteosarcoma tumors. Down-regulated in both breast (43% of tissue samples) and ovarian (25% of tissue samples) cancers.
genes like me logo Genes that share phenotypes with RAPH1: view

Animal Model Products

miRNA for RAPH1 Gene

miRTarBase miRNAs that target RAPH1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAPH1 Gene

Localization for RAPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPH1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium. Cell projection, filopodium. Cytoplasm, cytoskeleton. Note=Recruited to the membrane, via the PH domain, by the phosphoinositide, PI(3,4)P2. Colocalizes with ENAH/VASP at the tips of lamellipodia and filopodia. Also colocalizes with the pathogens, Vaccinia and Enteropathogenic E.coli (EPEC) at the interface between the pathogen and their actin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAPH1 Gene COMPARTMENTS Subcellular localization image for RAPH1 gene
Compartment Confidence
cytoskeleton 4
nucleus 4
plasma membrane 4
cytosol 3

Gene Ontology (GO) - Cellular Components for RAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0030027 lamellipodium IEA --
GO:0031252 cell leading edge IEA --
genes like me logo Genes that share ontologies with RAPH1: view

Pathways & Interactions for RAPH1 Gene

SuperPathways for RAPH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with RAPH1: view

No data available for Pathways by source and SIGNOR curated interactions for RAPH1 Gene

Drugs & Compounds for RAPH1 Gene

(1) Additional Compounds for RAPH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAPH1: view

Transcripts for RAPH1 Gene

Unigene Clusters for RAPH1 Gene

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAPH1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18
SP1: - - -
SP2: - -
SP3: - - - - - -
SP4: -
SP5: -

Relevant External Links for RAPH1 Gene

GeneLoc Exon Structure for
RAPH1
ECgene alternative splicing isoforms for
RAPH1

Expression for RAPH1 Gene

mRNA expression in normal human tissues for RAPH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAPH1 Gene

This gene is overexpressed in Breast (17.9), Testis (10.3), Fetal Brain (8.7), and Lung (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAPH1 Gene



SOURCE GeneReport for Unigene cluster for RAPH1 Gene Hs.471162

mRNA Expression by UniProt/SwissProt for RAPH1 Gene

Q70E73-RAPH1_HUMAN
Tissue specificity: Isoform RMO1-RAPH1 is ubiquitously expressed with highest levels in brain, heart, ovary and developing embryo. Isoform RMO1 is widely expressed with highest levels in liver. Low expression in B-cells.
genes like me logo Genes that share expression patterns with RAPH1: view

Protein tissue co-expression partners for RAPH1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for RAPH1 Gene

Orthologs for RAPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAPH1 35
  • 88.35 (n)
  • 91.9 (a)
RAPH1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAPH1 35
  • 90.45 (n)
  • 93.78 (a)
RAPH1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Raph1 35
  • 87.8 (n)
  • 91.67 (a)
Raph1 16
Raph1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAPH1 35
  • 99.47 (n)
  • 99.6 (a)
RAPH1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Raph1 35
  • 87.32 (n)
  • 90.63 (a)
oppossum
(Monodelphis domestica)
Mammalia RAPH1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAPH1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAPH1 35
  • 77.07 (n)
  • 83.83 (a)
RAPH1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAPH1 36
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-1h24.3 35
  • 66.63 (n)
  • 71.18 (a)
raph1 36
  • 57 (a)
OneToMany
RAPH1 (2 of 2) 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta pico 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-10 36
  • 29 (a)
OneToMany
Species with no ortholog for RAPH1:
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RAPH1 Gene

ENSEMBL:
Gene Tree for RAPH1 (if available)
TreeFam:
Gene Tree for RAPH1 (if available)

Paralogs for RAPH1 Gene

Paralogs for RAPH1 Gene

(3) SIMAP similar genes for RAPH1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RAPH1: view

Variants for RAPH1 Gene

Sequence variations from dbSNP and Humsavar for RAPH1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_036009 A breast cancer sample
VAR_036010 A breast cancer sample
rs744421 -- 203,473,761(+) AGCTT(C/T)ATATA intron-variant
rs1562958 -- 203,466,685(+) TCACA(C/T)ATGTA intron-variant
rs2732868 -- 203,482,220(-) cgaca(C/G)caaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAPH1 Gene

Variant ID Type Subtype PubMed ID
esv25574 CNV Loss 19812545
nsv523309 CNV Gain 19592680
nsv523737 CNV Loss 19592680
nsv3116 CNV Insertion 18451855

Variation tolerance for RAPH1 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.87% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RAPH1 Gene

Disorders for RAPH1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAPH1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
rectal disease
  • rectal diseases
- elite association - COSMIC cancer census association via MalaCards
Search RAPH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RAPH1

Genetic Association Database (GAD)
RAPH1
Human Genome Epidemiology (HuGE) Navigator
RAPH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAPH1
genes like me logo Genes that share disorders with RAPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAPH1 Gene

Publications for RAPH1 Gene

  1. Lamellipodin, an Ena/VASP ligand, is implicated in the regulation of lamellipodial dynamics. (PMID: 15469845) Krause M. … Gertler F.B. (Dev. Cell 2004) 3 4 23 67
  2. Lamellipodin proline rich peptides associated with native plasma butyrylcholinesterase tetramers. (PMID: 18076380) Li H. … Lockridge O. (Biochem. J. 2008) 3 23
  3. Drosophila pico and its mammalian ortholog lamellipodin activate serum response factor and promote cell proliferation. (PMID: 19000833) Lyulcheva E. … Bennett D. (Dev. Cell 2008) 3 23
  4. Altered expression and deletion of RMO1 in osteosarcoma. (PMID: 15609301) Eppert K. … Andrulis I.L. (Int. J. Cancer 2005) 3 23
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3

Products for RAPH1 Gene

Sources for RAPH1 Gene

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