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    Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [ Mus musculus (house mouse) ]

    Gene ID: 77300, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Raph1provided by MGI
    Official Full Name
    Ras association (RalGDS/AF-6) and pleckstrin homology domains 1provided by MGI
    Primary source
    MGI:MGI:1924550
    See related
    Ensembl:ENSMUSG00000026014 AllianceGenome:MGI:1924550
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Lpd; 9430025M21Rik; C730009O10Rik
    Summary
    Acts upstream of or within axon extension. Located in cell leading edge. Is expressed in telencephalon. Orthologous to human RAPH1 (Ras association (RalGDS/AF-6) and pleckstrin homology domains 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in whole brain E14.5 (RPKM 6.0), CNS E18 (RPKM 5.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Raph1 in Genome Data Viewer
    Location:
    1 C2; 1 30.48 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (60509997..60606233, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (60471180..60567074, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene neurobeachin like 1 Neighboring gene STARR-seq mESC enhancer starr_01063 Neighboring gene protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) pseudogene Neighboring gene STARR-seq mESC enhancer starr_01064 Neighboring gene STARR-seq mESC enhancer starr_01065 Neighboring gene cytochrome P450, family 20, subfamily a, polypeptide 1 Neighboring gene abl interactor 2 Neighboring gene STARR-seq mESC enhancer starr_01070 Neighboring gene SEC61 translocon subunit gamma, pseudogene 2 Neighboring gene STARR-seq mESC enhancer starr_01072 Neighboring gene STARR-seq mESC enhancer starr_01073 Neighboring gene predicted gene 11578 Neighboring gene predicted gene, 38388 Neighboring gene predicted gene, 51626

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Brain specific Lamellipodin knockout results in hyperactivity and increased anxiety of mice. Bodo C, et al. Sci Rep, 2017 Jul 14. PMID 28710397, Free PMC Article
    2. Lamellipodin-Deficient Mice: A Model of Rectal Carcinoma. Miller CL, et al. PLoS One, 2016. PMID 27045955, Free PMC Article
    3. Lpd depletion reveals that SRF specifies radial versus tangential migration of pyramidal neurons. Pinheiro EM, et al. Nat Cell Biol, 2011 Jul 24. PMID 21785421, Free PMC Article
    4. GSK3 and lamellipodin balance lamellipodial protrusions and focal adhesion maturation in mouse neural crest migration. Dobson L, et al. Cell Rep, 2023 Sep 26. PMID 37632751
    5. A phosphatidylinositol lipids system, lamellipodin, and Ena/VASP regulate dynamic morphology of multipolar migrating cells in the developing cerebral cortex. Yoshinaga S, et al. J Neurosci, 2012 Aug 22. PMID 22915108, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GSK3 and lamellipodin balance lamellipodial protrusions and focal adhesion maturation in mouse neural crest migration.
      Title: GSK3 and lamellipodin balance lamellipodial protrusions and focal adhesion maturation in mouse neural crest migration.
    2. Detailed behavioural analysis of the resulting Nestin-Cre-Lpd knockout mouse line revealed a specific behavioural phenotype characterised by hyperactivity and increased anxiety.
      Title: Brain specific Lamellipodin knockout results in hyperactivity and increased anxiety of mice.
    3. Lpd directly binds active Rac, which regulates a direct interaction between Lpd and the Scar/WAVE complex
      Title: Lamellipodin and the Scar/WAVE complex cooperate to promote cell migration in vivo.
    4. Role of lamellipodin (Lpd) in corticogenesis. Lpd depletion caused bipolar pyramidal neurons to adopt a tangential, rather than radial-glial, migration mode without affecting cell fate.
      Title: Lpd depletion reveals that SRF specifies radial versus tangential migration of pyramidal neurons.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within axon extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ras-associated and pleckstrin homology domains-containing protein 1
    Names
    lamellipodin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001045513.3 → NP_001038978.3  ras-associated and pleckstrin homology domains-containing protein 1

      Status: VALIDATED

      Source sequence(s)
      AA199065, AC158969, BI134311, CB246004, DV652147
      Consensus CDS
      CCDS48275.2
      UniProtKB/TrEMBL
      F2Z3U3
      Related
      ENSMUSP00000121023.3, ENSMUST00000140485.8
      Conserved Domains (3) summary
      cd01259
      Location:393 → 515
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:398 → 506
      PH; PH domain
      cl00155
      Location:270 → 351
      UBQ; Ubiquitin-like proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      60509997..60606233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312876.3 → XP_017168365.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      F2Z4B7
      Conserved Domains (2) summary
      cd01259
      Location:445 → 567
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:320 → 409
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    2. XM_030243573.1 → XP_030099433.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      F2Z4B7
      Conserved Domains (2) summary
      cd01259
      Location:393 → 515
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:268 → 357
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    3. XM_006496324.2 → XP_006496387.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X3

      Conserved Domains (2) summary
      cd01259
      Location:418 → 540
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:293 → 382
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    4. XM_006496323.2 → XP_006496386.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      Conserved Domains (2) summary
      cd01259
      Location:420 → 542
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:295 → 384
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    5. XM_006496326.2 → XP_006496389.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X5

      See identical proteins and their annotated locations for XP_006496389.1

      UniProtKB/TrEMBL
      F2Z4B7, G5E867
      Related
      ENSMUSP00000027168.6, ENSMUST00000027168.12
      Conserved Domains (2) summary
      cd01259
      Location:445 → 567
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:320 → 409
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    6. XM_006496322.2 → XP_006496385.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X1

      Conserved Domains (2) summary
      cd01259
      Location:445 → 567
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:320 → 409
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    7. XM_030243566.1 → XP_030099426.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X4

    8. XM_030243571.1 → XP_030099431.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      F2Z4B7
      Conserved Domains (2) summary
      cd01259
      Location:420 → 542
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:295 → 384
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    9. XM_006496327.3 → XP_006496390.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      F2Z4B7
      Conserved Domains (2) summary
      cd01259
      Location:445 → 567
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      cd16136
      Location:320 → 409
      RA_MRL_Lpd; Ras-associating (RA) domain found in the adapter protein lamellipodin (Lpd)

    RNA

    1. XR_373268.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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