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

    Gene ID: 19707, updated on 27-Nov-2024

    Summary

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    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 AllianceGenome:MGI:1196373
    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
    Summary
    Predicted to enable SH3 domain binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to be located in clathrin-coated pit; cytosol; and nucleoplasm. Predicted to be active in cytoplasm and plasma membrane. Is expressed in cranium; lung; nervous system; otic capsule; and thymus primordium. Human ortholog(s) of this gene implicated in neurodegeneration with brain iron accumulation. Orthologous to human REPS1 (RALBP1 associated Eps domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 16.9), whole brain E14.5 (RPKM 15.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Reps1 in Genome Data Viewer
    Location:
    10 A3; 10 7.42 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (17931301..18000892)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (18055562..18125155)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_25887 Neighboring gene hdc homolog, cell cycle regulator Neighboring gene STARR-positive B cell enhancer mm9_chr10:17667807-17668108 Neighboring gene STARR-positive B cell enhancer ABC_E5120 Neighboring gene ABRA C-terminal like Neighboring gene STARR-seq mESC enhancer starr_25888 Neighboring gene STARR-seq mESC enhancer starr_25889 Neighboring gene epithelial cell transforming sequence 2 oncogene-like Neighboring gene STARR-positive B cell enhancer ABC_E8992 Neighboring gene STARR-positive B cell enhancer mm9_chr10:17930879-17931180 Neighboring gene STARR-positive B cell enhancer ABC_E8325 Neighboring gene coiled-coil domain containing 28A

    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. Solution structure of the Reps1 EH domain and characterization of its binding to NPF target sequences. Kim S, et al. Biochemistry, 2001 Jun 12. PMID 11389591
    2. Cloning, expression and characterization of a novel human REPS1 gene. Xu J, et al. Biochim Biophys Acta, 2001 Dec 3. PMID 11750063
    3. A genome scanning approach to assess the genetic effects of radiation in mice and humans. Asakawa J, et al. Radiat Res, 2004 Apr. PMID 15038760
    4. An Eps homology (EH) domain protein that binds to the Ral-GTPase target, RalBP1. Yamaguchi A, et al. J Biol Chem, 1997 Dec 12. PMID 9395447
    5. Mfn2 ubiquitination by PINK1/parkin gates the p97-dependent release of ER from mitochondria to drive mitophagy. McLelland GL, et al. Elife, 2018 Apr 20. PMID 29676259, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC91085

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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

    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_001111065.2 → NP_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)
      AC153433
      Consensus CDS
      CCDS48507.1
      UniProtKB/TrEMBL
      E9Q632, F6R6F1
      Related
      ENSMUSP00000130501.2, ENSMUST00000164556.8
      Conserved Domains (4) summary
      smart00027
      Location:278 → 369
      EH; Eps15 homology domain
      cd00052
      Location:289 → 355
      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:618 → 707
      MCLC; Mid-1-related chloride channel (MCLC)
      cl08302
      Location:14 → 81
      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_001428799.1 → NP_001415728.1  ralBP1-associated Eps domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC153433

    3. NM_001428800.1 → NP_001415729.1  ralBP1-associated Eps domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC153433

    4. NM_001428801.1 → NP_001415730.1  ralBP1-associated Eps domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC153433

    5. NM_001428802.1 → NP_001415731.1  ralBP1-associated Eps domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC153433

    6. NM_009048.3 → NP_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 longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC153433
      Consensus CDS
      CCDS23710.2
      UniProtKB/Swiss-Prot
      O54916, Q3UAM3, Q5PPQ9, Q8C9J9, Q99LR8
      UniProtKB/TrEMBL
      F6R6F1
      Related
      ENSMUSP00000123238.2, ENSMUST00000126390.8
      Conserved Domains (2) summary
      smart00027
      Location:278 → 369
      EH; Eps15 homology domain
      PRK07764
      Location:99 → 228
      PRK07764; DNA polymerase III subunits gamma and tau; Validated

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      17931301..18000892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313852.3 → XP_017169341.1  ralBP1-associated Eps domain-containing protein 1 isoform X1

      Conserved Domains (3) summary
      smart00027
      Location:278 → 369
      EH; Eps15 homology domain
      PRK07764
      Location:99 → 228
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cl27812
      Location:6 → 85
      EF-hand_4; Cytoskeletal-regulatory complex EF hand

    2. XM_006512621.4 → XP_006512684.1  ralBP1-associated Eps domain-containing protein 1 isoform X2

      Conserved Domains (3) summary
      smart00027
      Location:257 → 348
      EH; Eps15 homology domain
      PRK07764
      Location:129 → 258
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cl27812
      Location:6 → 85
      EF-hand_4; Cytoskeletal-regulatory complex EF hand

    3. XM_030244961.2 → XP_030100821.1  ralBP1-associated Eps domain-containing protein 1 isoform X3

      Conserved Domains (3) summary
      smart00027
      Location:257 → 348
      EH; Eps15 homology domain
      PRK07764
      Location:129 → 258
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cl27812
      Location:6 → 85
      EF-hand_4; Cytoskeletal-regulatory complex EF hand

    4. XM_017313853.3 → XP_017169342.1  ralBP1-associated Eps domain-containing protein 1 isoform X4

      Conserved Domains (3) summary
      smart00027
      Location:257 → 348
      EH; Eps15 homology domain
      PRK07764
      Location:129 → 258
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      cl27812
      Location:6 → 85
      EF-hand_4; Cytoskeletal-regulatory complex EF hand

    5. XM_036155707.1 → XP_036011600.1  ralBP1-associated Eps domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      F6R6F1
      Conserved Domains (2) summary
      smart00027
      Location:220 → 311
      EH; Eps15 homology domain
      PRK07764
      Location:41 → 170
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O54916.2 GenPept UniProtKB/Swiss-Prot:O54916

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