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Exph5 exophilin 5 [ Mus musculus (house mouse) ]

Gene ID: 320051, updated on 8-Mar-2025

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, Mar 2025]
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

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