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    Snph syntaphilin [ Mus musculus (house mouse) ]

    Gene ID: 241727, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Snphprovided by MGI
    Official Full Name
    syntaphilinprovided by MGI
    Primary source
    MGI:MGI:2139270
    See related
    Ensembl:ENSMUSG00000027457 AllianceGenome:MGI:2139270
    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
    mKIAA0374; 6430515A01
    Summary
    Predicted to be involved in neuron differentiation. Predicted to act upstream of or within negative regulation of endocytosis and vesicle fusion. Located in mitochondrion. Is expressed in adrenal gland; alimentary system; eye; nervous system; and reproductive system. Orthologous to human SNPH (syntaphilin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cortex adult (RPKM 31.0), frontal lobe adult (RPKM 28.6) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Snph in Genome Data Viewer
    Location:
    2 G3; 2 74.83 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (151432469..151474527, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (151590549..151632607, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39959 Neighboring gene STARR-positive B cell enhancer ABC_E11170 Neighboring gene syndecan binding protein (syntenin) 2 Neighboring gene predicted gene, 46786 Neighboring gene acidic (leucine-rich) nuclear phosphoprotein 32 family, member E pseudogene

    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. Docking of axonal mitochondria by syntaphilin controls their mobility and affects short-term facilitation. Kang JS, et al. Cell, 2008 Jan 11. PMID 18191227, Free PMC Article
    2. Increased axonal mitochondrial mobility does not slow amyotrophic lateral sclerosis (ALS)-like disease in mutant SOD1 mice. Zhu YB, et al. J Biol Chem, 2011 Jul 1. PMID 21518771, Free PMC Article
    3. Tripartite Crosstalk between Cytokine IL-1β, NMDA-R and Misplaced Mitochondrial Anchor in Neuronal Dendrites Is a Novel Pathway for Neurodegeneration in Inflammatory Diseases. Joshi DC, et al. J Neurosci, 2022 Sep 21. PMID 35970564, Free PMC Article
    4. Reprogramming an energetic AKT-PAK5 axis boosts axon energy supply and facilitates neuron survival and regeneration after injury and ischemia. Huang N, et al. Curr Biol, 2021 Jul 26. PMID 34087103, Free PMC Article
    5. Restoring Cellular Energetics Promotes Axonal Regeneration and Functional Recovery after Spinal Cord Injury. Han Q, et al. Cell Metab, 2020 Mar 3. PMID 32130884, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Roles of syntaphilin and armadillo repeat-containing X-linked protein 1 in brain injury after experimental intracerebral hemorrhage.
      Title: Roles of syntaphilin and armadillo repeat-containing X-linked protein 1 in brain injury after experimental intracerebral hemorrhage.
    2. Syntaphilin Regulates Neutrophil Migration in Cancer.
      Title: Syntaphilin Regulates Neutrophil Migration in Cancer.
    3. DISC1 in association with SNPH is a component of a modulatory complex that determines mitochondrial anchoring in response to neuronal activation.
      Title: Disrupted-in-schizophrenia 1 (DISC1) and Syntaphilin collaborate to modulate axonal mitochondrial anchoring.
    4. SNPH is a stress-regulated mitochondrial switch of the cell proliferation-motility balance in cancer, and its pathway may represent a therapeutic target.
      Title: Syntaphilin controls a mitochondrial rheostat for proliferation-motility decisions in cancer.
    5. Stressed mitochondria are removed from axons triggered by the bulk release of mitochondrial anchoring protein syntaphilin via a new class of mitochondria-derived cargos independent of Parkin, Drp1, and autophagy.
      Title: Releasing Syntaphilin Removes Stressed Mitochondria from Axons Independent of Mitophagy under Pathophysiological Conditions.
    6. SNPH deletion produces striking benefits in the Shiverer mouse by prolonging survival, reducing cerebellar damage, suppressing oxidative stress, and improving itochondrial health.
      Title: Deletion of mitochondrial anchoring protects dysmyelinating shiverer: implications for progressive MS.
    7. syntaphilin expression in astrocytes at the optic nerve might be involved in axonal injury.
      Title: The expression of syntaphilin is down-regulated in the optic nerve after axonal injury.
    8. SNPH is required for activity-dependent regulation of mitochondrial transport.
      Title: Kinesin-1-syntaphilin coupling mediates activity-dependent regulation of axonal mitochondrial transport.
    9. Here, we report a role for axon-targeted syntaphilin (SNPH) in mitochondrial docking through its interaction with microtubules. Axonal mitochondria that contain exogenously or endogenously expressed SNPH lose mobility.
      Title: Docking of axonal mitochondria by syntaphilin controls their mobility and affects short-term facilitation.
    10. Our studies suggest an unexpected role for LC8 and provide new mechanistic insights into how SNPH and LC8 together immobilize mitochondria through a dynamic interaction between the docking receptor and axonal cytoskeleton.
      Title: Dynein light chain LC8 regulates syntaphilin-mediated mitochondrial docking in axons.
    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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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within vesicle fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    syntaphilin

    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_001291076.1 → NP_001278005.1  syntaphilin isoform b

      See identical proteins and their annotated locations for NP_001278005.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AK032279, AK138230, BC072567, BX630275, BY235740
      Consensus CDS
      CCDS71162.1
      UniProtKB/Swiss-Prot
      A2AT08, A2AT09, A2AT10, A2AT11, A4FUV3, A4VCI7, Q4VA51, Q6GQX4, Q80U23, Q8C8B8
      Related
      ENSMUSP00000092026.4, ENSMUST00000094456.10
      Conserved Domains (1) summary
      pfam15290
      Location:20 → 320
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    2. NM_001291077.1 → NP_001278006.1  syntaphilin isoform c

      See identical proteins and their annotated locations for NP_001278006.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AK138230, BC072567, BC096541, BX630275, BY235740
      Consensus CDS
      CCDS71161.1
      UniProtKB/Swiss-Prot
      Q80U23
      Related
      ENSMUSP00000105503.4, ENSMUST00000109877.10
      Conserved Domains (1) summary
      pfam15290
      Location:20 → 205
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    3. NM_198214.3 → NP_937857.1  syntaphilin isoform a

      See identical proteins and their annotated locations for NP_937857.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK138230, BC072567, BX630275, BY235740
      Consensus CDS
      CCDS16871.1
      UniProtKB/Swiss-Prot
      Q80U23
      Related
      ENSMUSP00000028951.8, ENSMUST00000028951.14
      Conserved Domains (1) summary
      pfam15290
      Location:53 → 353
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    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
      151432469..151474527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251169.2 → XP_030107029.1  syntaphilin isoform X2

      Conserved Domains (1) summary
      pfam15290
      Location:63 → 376
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    2. XM_030251167.2 → XP_030107027.1  syntaphilin isoform X1

      Conserved Domains (1) summary
      pfam15290
      Location:95 → 409
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    3. XM_030251172.2 → XP_030107032.1  syntaphilin isoform X5

      UniProtKB/Swiss-Prot
      A2AT08, A2AT09, A2AT10, A2AT11, A4FUV3, A4VCI7, Q4VA51, Q6GQX4, Q80U23, Q8C8B8
      Conserved Domains (1) summary
      pfam15290
      Location:20 → 320
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    4. XM_030251171.2 → XP_030107031.1  syntaphilin isoform X4

      Conserved Domains (1) summary
      pfam15290
      Location:64 → 340
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    5. XM_011239538.2 → XP_011237840.1  syntaphilin isoform X3

      See identical proteins and their annotated locations for XP_011237840.1

      UniProtKB/Swiss-Prot
      Q80U23
      Conserved Domains (1) summary
      pfam15290
      Location:53 → 353
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    6. XM_036162003.1 → XP_036017896.1  syntaphilin isoform X4

      Conserved Domains (1) summary
      pfam15290
      Location:64 → 340
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    7. XM_036162002.1 → XP_036017895.1  syntaphilin isoform X2

      Conserved Domains (1) summary
      pfam15290
      Location:63 → 376
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp

    8. XM_036162000.1 → XP_036017893.1  syntaphilin isoform X1

      Conserved Domains (1) summary
      pfam15290
      Location:95 → 409
      Syntaphilin; Golgi-localized syntaxin-1-binding clamp
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80U23.3 GenPept UniProtKB/Swiss-Prot:Q80U23

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