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    Reps1 RalBP1 associated Eps domain containing protein [ Mus musculus (house mouse) ]

    Gene ID: 19707, updated on 5-Aug-2018

    Summary

    Official Symbol
    Reps1provided by MGI
    Official Full Name
    RalBP1 associated Eps domain containing proteinprovided by MGI
    Primary source
    MGI:MGI:1196373
    See related
    Ensembl:ENSMUSG00000019854 Vega:OTTMUSG00000033574
    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
    BB161292
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 16.9), whole brain E14.5 (RPKM 15.2) and 28 other tissues See more
    Orthologs

    Genomic context

    See Reps1 in Genome Data Viewer
    Location:
    10; 10 A3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 10 NC_000076.6 (18055492..18125155)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (17775746..17844961)

    Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene hdc homolog, cell cycle regulator Neighboring gene ABRA C-terminal like Neighboring gene epithelial cell transforming sequence 2 oncogene-like Neighboring gene coiled-coil domain containing 28A

    Genomic regions, transcripts, and products

    Expression

    • 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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC91085

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ralBP1-associated Eps domain-containing protein 1
    Names
    RalBP1 associated Eps domain containing 1
    ralBP1-interacting protein 1

    NCBI Reference Sequences (RefSeq)

    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_001111065.1NP_001104535.1  ralBP1-associated Eps domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid-coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AF031939, AK150284, BB812481, BC087547, BF318674
      Consensus CDS
      CCDS48507.1
      UniProtKB/Swiss-Prot
      O54916
      UniProtKB/TrEMBL
      E9Q632
      Related
      ENSMUSP00000130501.1, ENSMUST00000164556.7
      Conserved Domains (4) summary
      smart00027
      Location:278369
      EH; Eps15 homology domain
      cd00052
      Location:289355
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam05934
      Location:618707
      MCLC; Mid-1-related chloride channel (MCLC)
      cl08302
      Location:1481
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    2. NM_009048.2NP_033074.2  ralBP1-associated Eps domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_033074.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF031939, AK150284, BB812481, BF318674
      Consensus CDS
      CCDS23710.2
      UniProtKB/Swiss-Prot
      O54916
      Related
      ENSMUSP00000123238.1, OTTMUSP00000045590, ENSMUST00000126390.7, OTTMUST00000084560
      Conserved Domains (4) summary
      smart00027
      Location:278369
      EH; Eps15 homology domain
      cd00052
      Location:289355
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam05934
      Location:645734
      MCLC; Mid-1-related chloride channel (MCLC)
      cl08302
      Location:1481
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000076.6 Reference GRCm38.p4 C57BL/6J

      Range
      18055492..18125155
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313853.1XP_017169342.1  ralBP1-associated Eps domain-containing protein 1 isoform X3

    2. XM_006512621.2XP_006512684.1  ralBP1-associated Eps domain-containing protein 1 isoform X2

      Conserved Domains (4) summary
      smart00027
      Location:257348
      EH; Eps15 homology domain
      cd00052
      Location:268334
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam05934
      Location:624713
      MCLC; Mid-1-related chloride channel (MCLC)
      cl08302
      Location:1481
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    3. XM_017313852.1XP_017169341.1  ralBP1-associated Eps domain-containing protein 1 isoform X1

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