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

Gene ID: 19707, updated on 2-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 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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