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    Exph5 exophilin 5 [ Mus musculus (house mouse) ]

    Gene ID: 320051, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Exph5provided by MGI
    Official Full Name
    exophilin 5provided by MGI
    Primary source
    MGI:MGI:2443248
    See related
    Ensembl:ENSMUSG00000034584 AllianceGenome:MGI:2443248
    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
    Slac2b; slac2-b; Kiaa0624; E030050P12; B130009M24Rik; AC079869.22gm5
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be involved in keratinocyte development; multivesicular body sorting pathway; and positive regulation of secretion by cell. Predicted to be active in endosome. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex. Orthologous to human EXPH5 (exophilin 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 6.3), large intestine adult (RPKM 1.7) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Exph5 in Genome Data Viewer
    Location:
    9 A5.3; 9 29.12 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (53212814..53292466)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (53301514..53381166)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39339 Neighboring gene DEAD box helicase 10 Neighboring gene STARR-positive B cell enhancer ABC_E1786 Neighboring gene STARR-seq mESC enhancer starr_24140 Neighboring gene STARR-seq mESC enhancer starr_24141 Neighboring gene RIKEN cDNA 4930550C14 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:53213128-53213311 Neighboring gene protein O-glucosyltransferase 3 Neighboring gene microRNA 130c

    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. Exophilin-5 regulates allergic airway inflammation by controlling IL-33-mediated Th2 responses. Okunishi K, et al. J Clin Invest, 2020 Jul 1. PMID 32240120, Free PMC Article
    2. Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells. Fukuda M. J Biol Chem, 2003 Apr 25. PMID 12590134
    3. The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain. Kuroda TS, et al. J Biol Chem, 2002 Mar 15. PMID 11773082
    4. Voltage-dependent conformational changes of Kv1.3 channels activate cell proliferation. Cidad P, et al. J Cell Physiol, 2021 Jun. PMID 33230847
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exophilin-5 regulates allergic airway inflammation by controlling IL-33-mediated Th2 responses.
      Title: Exophilin-5 regulates allergic airway inflammation by controlling IL-33-mediated Th2 responses.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in keratinocyte development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in keratinocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in multivesicular body sorting pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in multivesicular body sorting pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of exocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    exophilin-5
    Names
    slp homolog lacking C2 domains b
    synaptotagmin-like homologue lacking C2 domains b
    synaptotagmin-like protein homolog lacking C2 domains b

    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_176846.3 → NP_789816.2  exophilin-5

      See identical proteins and their annotated locations for NP_789816.2

      Status: VALIDATED

      Source sequence(s)
      AC079869, AC160139, BC120905
      Consensus CDS
      CCDS23181.1
      UniProtKB/Swiss-Prot
      Q0VAV2, Q3UNV5, Q6A034, Q812E3
      Related
      ENSMUSP00000062632.2, ENSMUST00000051014.2
      Conserved Domains (2) summary
      pfam15449
      Location:1588 → 1766
      Retinal; Retinal protein
      cl22851
      Location:11 → 46
      PHD_SF; PHD finger superfamily

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      53212814..53292466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510425.5 → XP_006510488.1  exophilin-5 isoform X1

      See identical proteins and their annotated locations for XP_006510488.1

      UniProtKB/Swiss-Prot
      Q0VAV2, Q3UNV5, Q6A034, Q812E3
      Conserved Domains (2) summary
      pfam15449
      Location:1588 → 1766
      Retinal; Retinal protein
      cl22851
      Location:11 → 46
      PHD_SF; PHD finger superfamily

    2. XM_017313428.3 → XP_017168917.1  exophilin-5 isoform X2

      Conserved Domains (1) summary
      pfam15449
      Location:1512 → 1690
      Retinal; Retinal protein

    3. XM_017313429.1 → XP_017168918.1  exophilin-5 isoform X3

      Conserved Domains (1) summary
      pfam15449
      Location:1403 → 1581
      Retinal; Retinal protein

    4. XM_017313430.3 → XP_017168919.1  exophilin-5 isoform X4

      Conserved Domains (1) summary
      pfam15449
      Location:1364 → 1542
      Retinal; Retinal protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0VAV2.1 GenPept UniProtKB/Swiss-Prot:Q0VAV2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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