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    RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [ Homo sapiens (human) ]

    Gene ID: 65059, updated on 17-Jun-2024

    Summary

    Official Symbol
    RAPH1provided by HGNC
    Official Full Name
    Ras association (RalGDS/AF-6) and pleckstrin homology domains 1provided by HGNC
    Primary source
    HGNC:HGNC:14436
    See related
    Ensembl:ENSG00000173166 MIM:609035; AllianceGenome:HGNC:14436
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LPD; RMO1; PREL2; PREL-2; ALS2CR9; ALS2CR18; RalGDS/AF-6
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.2), liver (RPKM 12.2) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RAPH1 in Genome Data Viewer
    Location:
    2q33.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (203433682..203535301, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203915590..204017213, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (204298405..204400024, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:204192004-204192974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12255 Neighboring gene mitochondrial ribosomal protein L50 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:204209822-204210322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17011 Neighboring gene MPRA-validated peak4020 silencer Neighboring gene abl interactor 2 Neighboring gene tRNA-Glu (anticodon TTC) 9-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12258 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:204464991-204465874 Neighboring gene zinc finger protein 207 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:204530085-204530727 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1681

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ras-associated and pleckstrin homology domains-containing protein 1
    Names
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9
    lamellipodin
    proline-rich EVH1 ligand 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001329728.2NP_001316657.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC018891
      UniProtKB/TrEMBL
      C9J164
      Conserved Domains (3) summary
      cd01259
      Location:444566
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:449557
      PH; PH domain
      cl00155
      Location:321402
      UBQ; Ubiquitin-like proteins
    2. NM_203365.4NP_976241.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_976241.1

      Status: REVIEWED

      Source sequence(s)
      AC018891, AI217860, AY523978, BE967038
      Consensus CDS
      CCDS2360.1
      UniProtKB/TrEMBL
      C9J164
      Related
      ENSP00000311293.4, ENST00000308091.8
      Conserved Domains (3) summary
      cd01259
      Location:444566
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:449557
      PH; PH domain
      cl00155
      Location:321402
      UBQ; Ubiquitin-like proteins
    3. NM_213589.3NP_998754.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_998754.1

      Status: REVIEWED

      Source sequence(s)
      AC018891, AI217860, AJ584699, AY494951, CA503229
      Consensus CDS
      CCDS2359.1
      UniProtKB/Swiss-Prot
      Q70E73, Q96Q37, Q9C0I2
      Related
      ENSP00000316543.5, ENST00000319170.10
      Conserved Domains (3) summary
      cd01259
      Location:392514
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:397505
      PH; PH domain
      cl00155
      Location:269350
      UBQ; Ubiquitin-like proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      203433682..203535301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445545.1XP_047301501.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X6

    2. XM_047445544.1XP_047301500.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X5

    3. XM_005246777.5XP_005246834.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005246834.1

      UniProtKB/TrEMBL
      C9K0J5
      Related
      ENSP00000486548.1, ENST00000630330.2
      Conserved Domains (3) summary
      cd01259
      Location:444566
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:449557
      PH; PH domain
      cl00155
      Location:321402
      UBQ; Ubiquitin-like proteins
    4. XM_047445548.1XP_047301504.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X8

      UniProtKB/Swiss-Prot
      Q70E73, Q96Q37, Q9C0I2
    5. XM_047445546.1XP_047301502.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X6

    6. XM_011511646.4XP_011509948.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011509948.1

      UniProtKB/TrEMBL
      C9K0J5
      Conserved Domains (3) summary
      cd01259
      Location:444566
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:449557
      PH; PH domain
      cl00155
      Location:321402
      UBQ; Ubiquitin-like proteins
    7. XM_047445547.1XP_047301503.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X7

    8. XM_047445543.1XP_047301499.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X4

    9. XM_047445542.1XP_047301498.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X3

    10. XM_047445538.1XP_047301494.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X1

    11. XM_047445540.1XP_047301496.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    12. XM_047445541.1XP_047301497.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    13. XM_047445539.1XP_047301495.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    14. XM_006712695.4XP_006712758.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006712758.1

      UniProtKB/TrEMBL
      C9K0J5
      Conserved Domains (3) summary
      cd01259
      Location:444566
      PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
      pfam00169
      Location:449557
      PH; PH domain
      cl00155
      Location:321402
      UBQ; Ubiquitin-like proteins
    15. XM_047445549.1XP_047301505.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X9

    16. XM_047445551.1XP_047301507.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      C9J164
      Related
      ENSP00000411138.1, ENST00000439222.5
    17. XM_047445550.1XP_047301506.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      C9J164

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      203915590..204017213 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343441.1XP_054199416.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X6

    2. XM_054343440.1XP_054199415.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X5

    3. XM_054343436.1XP_054199411.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    4. XM_054343443.1XP_054199418.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X8

      UniProtKB/Swiss-Prot
      Q70E73, Q96Q37, Q9C0I2
    5. XM_054343442.1XP_054199417.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X6

    6. XM_054343437.1XP_054199412.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    7. XM_054343439.1XP_054199414.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    8. XM_054343438.1XP_054199413.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      C9K0J5
    9. XM_054343444.1XP_054199419.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_051287.1: Suppressed sequence

      Description
      NG_051287.1: This RefSeq was removed by NCBI staff. Please email info@ncbi.nlm.nih.gov for more information.
    2. NM_025252.3: Suppressed sequence

      Description
      NM_025252.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.