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    Scamp5 secretory carrier membrane protein 5 [ Mus musculus (house mouse) ]

    Gene ID: 56807, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Scamp5provided by MGI
    Official Full Name
    secretory carrier membrane protein 5provided by MGI
    Primary source
    MGI:MGI:1928948
    See related
    Ensembl:ENSMUSG00000040722 AllianceGenome:MGI:1928948
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Sc5
    Summary
    This gene encodes a member of the Scamp (secretory carrier membrane protein) family. The encoded protein may be involved in neuronal vesicle trafficking. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
    Expression
    Broad expression in cortex adult (RPKM 70.0), cerebellum adult (RPKM 68.8) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Scamp5 in Genome Data Viewer
    Location:
    9 B; 9 31.05 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (57348610..57375343, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (57441327..57468060, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_24228 Neighboring gene 40S ribosomal protein S8 pseudogene Neighboring gene STARR-seq mESC enhancer starr_24229 Neighboring gene RIKEN cDNA 4930430J02 gene Neighboring gene phosphopantothenoylcysteine decarboxylase Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57269067-57269268 Neighboring gene STARR-seq mESC enhancer starr_24230 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:57287043-57287152 Neighboring gene STARR-positive B cell enhancer ABC_E10550 Neighboring gene STARR-seq mESC enhancer starr_24235 Neighboring gene STARR-seq mESC enhancer starr_24236 Neighboring gene DNA segment, Chr 9, Wayne State University 149 Neighboring gene fatty acid-binding protein, epidermal-like

    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. Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain. Zhang D, et al. Hum Genet, 2020 Apr. PMID 32020363
    2. SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Castermans D, et al. Hum Mol Genet, 2010 Apr 1. PMID 20071347
    3. SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. Noh JY, et al. J Biol Chem, 2009 Apr 24. PMID 19240033, Free PMC Article
    4. Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery. Han C, et al. J Immunol, 2009 Mar 1. PMID 19234194
    5. Novel SCAMPs lacking NPF repeats: ubiquitous and synaptic vesicle-specific forms implicate SCAMPs in multiple membrane-trafficking functions. Fernández-Chacón R, et al. J Neurosci, 2000 Nov 1. PMID 11050114, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. exposure to ER stress increases SCAMP5 in the striatum, which positively regulates mtHTT aggregation via the endocytosis pathway
      Title: SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of calcium ion-dependent exocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of calcium ion-dependent exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of cytokine production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to endoplasmic reticulum stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to endoplasmic reticulum stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in recycling endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    secretory carrier-associated membrane protein 5

    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_001301634.1 → NP_001288563.1  secretory carrier-associated membrane protein 5 isoform 1

      See identical proteins and their annotated locations for NP_001288563.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC125321, BC018613, CJ148246
      Consensus CDS
      CCDS40649.1
      UniProtKB/Swiss-Prot
      Q9JKD3
      Related
      ENSMUSP00000150867.2, ENSMUST00000214256.2
      Conserved Domains (1) summary
      pfam04144
      Location:6 → 179
      SCAMP; SCAMP family

    2. NM_001301635.1 → NP_001288564.1  secretory carrier-associated membrane protein 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the central coding region, which results in the use of an alternate start codon and a frameshift, compared to variant 1. The encoded isoform (2), has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      BC018613, CJ131214, CJ148246
      UniProtKB/Swiss-Prot
      Q9JKD3
      Conserved Domains (1) summary
      pfam04144
      Location:44 → 108
      SCAMP; SCAMP family

    3. NM_020270.3 → NP_064666.1  secretory carrier-associated membrane protein 5 isoform 1

      See identical proteins and their annotated locations for NP_064666.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      BC018613, CJ148246
      Consensus CDS
      CCDS40649.1
      UniProtKB/Swiss-Prot
      Q9JKD3
      Related
      ENSMUSP00000035898.7, ENSMUST00000046587.8
      Conserved Domains (1) summary
      pfam04144
      Location:6 → 179
      SCAMP; SCAMP family

    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
      57348610..57375343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244475.2 → XP_030100335.1  secretory carrier-associated membrane protein 5 isoform X1

      Conserved Domains (1) summary
      pfam04144
      Location:107 → 240
      SCAMP; SCAMP family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JKD3.1 GenPept UniProtKB/Swiss-Prot:Q9JKD3

    Gene LinkOut

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

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