Snph syntaphilin [Mus musculus (house mouse)] - Gene

Summary

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

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Syntaphilin Regulates Neutrophil Migration in Cancer.
Title: Syntaphilin Regulates Neutrophil Migration in Cancer.
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.
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.
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.
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.
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.
SNPH is required for activity-dependent regulation of mitochondrial transport.
Title: Kinesin-1-syntaphilin coupling mediates activity-dependent regulation of axonal mitochondrial transport.
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.
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.

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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

AW743098 (e-PCR)
- UniSTS:207424

D2Mit449 (e-PCR), detects polymorphism
- UniSTS:129359

AW045671 (e-PCR)
- UniSTS:165218

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 more info	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)

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
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
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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

151432469..151474527 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251169.2 → XP_030107029.1 syntaphilin isoform X2

Conserved Domains (1) summary

pfam15290
Location:63 → 376

Syntaphilin; Golgi-localized syntaxin-1-binding clamp
XM_030251167.2 → XP_030107027.1 syntaphilin isoform X1

Conserved Domains (1) summary

pfam15290
Location:95 → 409

Syntaphilin; Golgi-localized syntaxin-1-binding clamp
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
XM_030251171.2 → XP_030107031.1 syntaphilin isoform X4

Conserved Domains (1) summary

pfam15290
Location:64 → 340

Syntaphilin; Golgi-localized syntaxin-1-binding clamp
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
XM_036162003.1 → XP_036017896.1 syntaphilin isoform X4

Conserved Domains (1) summary

pfam15290
Location:64 → 340

Syntaphilin; Golgi-localized syntaxin-1-binding clamp
XM_036162002.1 → XP_036017895.1 syntaphilin isoform X2

Conserved Domains (1) summary

pfam15290
Location:63 → 376

Syntaphilin; Golgi-localized syntaxin-1-binding clamp
XM_036162000.1 → XP_036017893.1 syntaphilin isoform X1

Conserved Domains (1) summary

pfam15290
Location:95 → 409

Syntaphilin; Golgi-localized syntaxin-1-binding clamp