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    Rab5if RAB5 interacting factor [ Mus musculus (house mouse) ]

    Gene ID: 67388, updated on 9-Dec-2024

    Summary

    Official Symbol
    Rab5ifprovided by MGI
    Official Full Name
    RAB5 interacting factorprovided by MGI
    Primary source
    MGI:MGI:1914638
    See related
    Ensembl:ENSMUSG00000027637 AllianceGenome:MGI:1914638
    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
    RIP5; RCAF1; 1110008F13Rik
    Summary
    Involved in mitochondrial respirasome assembly. Located in mitochondrion. Is expressed in adrenal gland; gut; liver lobe; and submandibular gland primordium. Human ortholog(s) of this gene implicated in craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2. Orthologous to human RAB5IF (RAB5 interacting factor). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 124.4), ovary adult (RPKM 75.6) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Rab5if in Genome Data Viewer
    Location:
    2 H1; 2 77.89 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (156705042..156715483)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (156863122..156873563)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene 14230 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:156665530-156665639 Neighboring gene TGFB-induced factor homeobox 2 Neighboring gene RIKEN cDNA 5430405H02 gene Neighboring gene STARR-positive B cell enhancer ABC_E1606 Neighboring gene Src-like-adaptor 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:156712828-156713029 Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex 8 pseudogene

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of multi-pass translocon complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of multi-pass translocon complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of respiratory chain complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    GEL complex subunit OPTI
    Names
    novel transcript
    obligate partner of TMCO1 insertase
    rab5-interacting protein
    respirasome Complex Assembly Factor 1
    uncharacterized protein C20orf24 homolog

    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_026124.3NP_080400.1  GEL complex subunit OPTI

      See identical proteins and their annotated locations for NP_080400.1

      Status: VALIDATED

      Source sequence(s)
      AK003568, AW493966, BY165552
      Consensus CDS
      CCDS16970.1
      UniProtKB/Swiss-Prot
      Q9CQT9
      Related
      ENSMUSP00000029165.4, ENSMUST00000029165.4
      Conserved Domains (1) summary
      pfam07019
      Location:44120
      Rab5ip; Rab5-interacting protein (Rab5ip)

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      156705042..156715483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)