This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator prote... See more...

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 (Juvenile) Chromosome Region, Candidate 18 2 3
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 9 2 3
  • Ras-Associated And Pleckstrin Homology Domains-Containing Protein 1 3 4
  • 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 Chromosomal Region Candidate Gene 18 Protein 4
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 9 Protein 4
  • 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

Entrez Gene Summary for RAPH1 Gene

  • This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

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 Breast Cancer. Among its related pathways are Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is APBB1IP.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for RAPH1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAPH1 Gene

Genomics for RAPH1 Gene

GeneHancer (GH) Regulatory Elements for RAPH1 Gene

Promoters and enhancers for RAPH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J203531 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.1 1109 4.9 EP300 ZSCAN5C TCF12 POLR2G PHF8 FOS ZFX CTCF ZIC2 REST RAPH1 lnc-ABI2-1 lnc-WDR12-4 RNU6-474P ICA1L CARF CYP20A1 piR-53298
GH02J203781 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -250.9 -250866 10.4 EP300 FOXK2 CTCF POLR2G USF1 NCOR1 JUND FOS KDM6A TCF7 piR-33735-049 piR-39099-141 KRT18P39 RAPH1 CD28 CYP20A1 RF00026-611 RNU6-474P RF00017-3410
GH02J203648 Enhancer 1.3 Ensembl ENCODE dbSUPER 11 -121.3 -121265 17.2 FOXK2 CTCF ZSCAN5C TCF12 POLR2G NCOR1 ZNF10 KDM6A TCF7 FOXA1 RAPH1 RNU6-474P NBEAL1 ENSG00000228513 ICA1L piR-35565-003 LOC100287498
GH02J203497 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.6 +35.4 35434 6.2 JUND FOS ATF2 CREB1 ZBTB17 FOSL2 SPI1 USF1 FOSL1 PRDM6 NBEAL1 RAPH1 ICA1L CARF lnc-WDR12-4 piR-53298
GH02J203578 Enhancer 1 Ensembl ENCODE 12.6 -44.7 -44676 3.6 ZNF217 REST CLOCK JUND RELA MEF2C GATAD2B CTBP1 NR2F2 HCFC1 RAPH1 ENSG00000228513 CARF HSALNG0021681 piR-43325-056
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAPH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAPH1

Top Transcription factor binding sites by QIAGEN in the RAPH1 gene promoter:
  • Cdc5
  • GR
  • GR-alpha
  • NF-AT
  • Pax-4a
  • Roaz

Genomic Locations for RAPH1 Gene

Genomic Locations for RAPH1 Gene
chr2:203,394,345-203,535,335
(GRCh38/hg38)
Size:
140,991 bases
Orientation:
Minus strand
chr2:204,259,068-204,400,133
(GRCh37/hg19)
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

Post-translational modifications for RAPH1 Gene

  • Ubiquitination at Lys483
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RAPH1 Gene

Domains & Families for RAPH1 Gene

Gene Families for RAPH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAPH1 Gene

Blocks:
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAPH1 Gene

GenScript: Design optimal peptide antigens:
  • Protein RMO1 (RAPH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q70E73

UniProtKB/Swiss-Prot:

RAPH1_HUMAN :
  • Belongs to the MRL family.
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.

Phenotypes From GWAS Catalog for RAPH1 Gene

Gene Ontology (GO) - Molecular Function for RAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24076656
genes like me logo Genes that share ontologies with RAPH1: view
genes like me logo Genes that share phenotypes with RAPH1: view

Animal Models for RAPH1 Gene

MGI Knock Outs for RAPH1:
  • Raph1 Raph1<tm1.2Fbg>
  • Raph1 Raph1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RAPH1 Gene

miRTarBase miRNAs that target RAPH1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPH1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 RAPH1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 4
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Nuclear bodies (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAPH1: view

Pathways & Interactions for RAPH1 Gene

PathCards logo

SuperPathways for RAPH1 Gene

SuperPathway Contained pathways
1 Cytoskeletal Signaling
genes like me logo Genes that share pathways with RAPH1: view

Pathways by source for RAPH1 Gene

1 Cell Signaling Technology pathway for RAPH1 Gene

Gene Ontology (GO) - Biological Process for RAPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0048675 axon extension IEA --
genes like me logo Genes that share ontologies with RAPH1: view

No data available for 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

mRNA/cDNA for RAPH1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAPH1

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

Expression for RAPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for RAPH1 Gene



Protein tissue co-expression partners for RAPH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAPH1

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.

Evidence on tissue expression from TISSUES for RAPH1 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with RAPH1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RAPH1 31 30
  • 99.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAPH1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAPH1 31 30
  • 90.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAPH1 31 30
  • 88.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Raph1 17 31 30
  • 87.8 (n)
rat
(Rattus norvegicus)
Mammalia Raph1 30
  • 87.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAPH1 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAPH1 31 30
  • 77.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAPH1 31
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-1h24.3 30
  • 66.63 (n)
raph1 31
  • 57 (a)
OneToMany
RAPH1 (2 of 2) 31
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta pico 31
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-10 31
  • 29 (a)
OneToMany
Species where no ortholog for RAPH1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAPH1: view image

Paralogs for RAPH1 Gene

Paralogs for RAPH1 Gene

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

  • RAPH1_HUMAN
  • C9J0R8_HUMAN
  • C9J164_HUMAN
  • C9JLG4_HUMAN
  • C9K0J5_HUMAN
genes like me logo Genes that share paralogs with RAPH1: view

Variants for RAPH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAPH1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs193920935 Uncertain Significance: Malignant tumor of prostate 203,457,565(-) C/A NONSENSE
rs774304253 A breast cancer sample p.Thr1228Ala
VAR_036009 A breast cancer sample p.Ala891Ser

Additional dbSNP identifiers (rs#s) for RAPH1 Gene

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

Variant ID Type Subtype PubMed ID
esv25574 CNV loss 19812545
esv3377705 CNV insertion 20981092
esv3594015 CNV loss 21293372
nsv1001799 CNV gain 25217958
nsv1126575 CNV deletion 24896259
nsv1138886 CNV deletion 24896259
nsv3116 CNV insertion 18451855
nsv523309 CNV gain 19592680
nsv523737 CNV loss 19592680

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)

Additional Variant Information for RAPH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAPH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search RAPH1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAPH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Altered expression and deletion of RMO1 in osteosarcoma. (PMID: 15609301) Eppert K … Andrulis IL (International journal of cancer 2005) 3 4 23 54
  2. Lamellipodin, an Ena/VASP ligand, is implicated in the regulation of lamellipodial dynamics. (PMID: 15469845) Krause M … Gertler FB (Developmental cell 2004) 3 4 23 54
  3. c-Abl, Lamellipodin, and Ena/VASP proteins cooperate in dorsal ruffling of fibroblasts and axonal morphogenesis. (PMID: 20417104) Michael M … Krause M (Current biology : CB 2010) 4 23 54
  4. Lamellipodin proline rich peptides associated with native plasma butyrylcholinesterase tetramers. (PMID: 18076380) Li H … Lockridge O (The Biochemical journal 2008) 3 23 54
  5. CED-10/Rac1 mediates axon guidance by regulating the asymmetric distribution of MIG-10/lamellipodin. (PMID: 18499456) Quinn CC … Wadsworth WG (Current biology : CB 2008) 4 23 54

Products for RAPH1 Gene

Sources for RAPH1 Gene