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Snph syntaphilin [ Mus musculus (house mouse) ]

Gene ID: 241727, updated on 5-Mar-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 enable syntaxin-1 binding activity. 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, Apr 2022]
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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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. Syntaphilin Regulates Neutrophil Migration in Cancer. Fu S, et al. Cancer Immunol Res, 2023 Mar 1. PMID 36548516, Free PMC Article
  2. 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
  3. The expression of syntaphilin is down-regulated in the optic nerve after axonal injury. Miki A, et al. Exp Eye Res, 2014 Dec. PMID 25447562
  4. Mitochondrial immobilization mediated by syntaphilin facilitates survival of demyelinated axons. Ohno N, et al. Proc Natl Acad Sci U S A, 2014 Jul 8. PMID 24958879, Free PMC Article
  5. Motile axonal mitochondria contribute to the variability of presynaptic strength. Sun T, et al. Cell Rep, 2013 Aug 15. PMID 23891000, Free PMC Article

See all (34) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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 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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