Pacsin1 protein kinase C and casein kinase substrate in neurons 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pacsin1provided by MGI
Official Full Name: protein kinase C and casein kinase substrate in neurons 1provided by MGI
Primary source: MGI:MGI:1345181
See related: Ensembl:ENSMUSG00000040276 AllianceGenome:MGI:1345181
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: H74; syndapin; mKIAA1379; A830061D09Rik
Summary: Enables cytoskeletal protein binding activity; identical protein binding activity; and phospholipid binding activity. Involved in plasma membrane tubulation; protein localization to membrane; and synaptic vesicle endocytosis. Acts upstream of or within negative regulation of endocytosis. Located in COPI-coated vesicle and ruffle membrane. Is active in photoreceptor ribbon synapse and presynaptic endocytic zone. Is expressed in central nervous system; dorsal root ganglion; nasal cavity epithelium; and retina. Orthologous to human PACSIN1 (protein kinase C and casein kinase substrate in neurons 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in frontal lobe adult (RPKM 48.4), cerebellum adult (RPKM 46.5) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 14.59 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (27874565..27930092)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (27655591..27711118)

Chromosome 17 - NC_000083.7 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?

De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Title: De Novo PACSIN1 Gene Variant Found in Childhood Lupus and a Role for PACSIN1/TRAF4 Complex in Toll-like Receptor 7 Activation.
Syndapin I Loss-of-Function in Mice Leads to Schizophrenia-Like Symptoms.
Title: Syndapin I Loss-of-Function in Mice Leads to Schizophrenia-Like Symptoms.
Overall, the global native-KCC2 interactome and subsequent characterization revealed PACSIN1 as a novel and potent negative regulator of KCC2.
Title: Native KCC2 interactome reveals PACSIN1 as a critical regulator of synaptic inhibition.
Structure and function analysis reveals a requirement for the PACSIN1 F-BAR and SH3 domains in controlling NMDA receptor-dependent processes.
Title: PACSIN1 regulates the dynamics of AMPA receptor trafficking.
syndapin I functions reflected direct, SH3 domain-mediated associations and functional interactions with ProSAP1/Shank2.
Title: ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.
The SdpI-binding site was mapped to a proline-rich sequence of 22 amino acids within the intracellular loop of GlyRbeta.
Title: Proteomic analysis of glycine receptor β subunit (GlyRβ)-interacting proteins: evidence for syndapin I regulating synaptic glycine receptors.
upon BDNF signaling PACSIN 1 is phosphorylated by CK2 which is essential for spine formation
Title: Casein kinase 2 phosphorylation of protein kinase C and casein kinase 2 substrate in neurons (PACSIN) 1 protein regulates neuronal spine formation.
PACSIN1 is an important Tau binding partner in regulating microtubule dynamics and forming axonal plasticity.
Title: PACSIN1, a Tau-interacting protein, regulates axonal elongation and branching by facilitating microtubule instability.
These results implicate Pak5 in Pacsin1- and Synaptojanin1-mediated synaptic vesicle trafficking.
Title: Identification of neuronal substrates implicates Pak5 in synaptic vesicle trafficking.
syndapin I acts as pivotal membrane anchoring factor for dynamins during regeneration of synaptic vesicles.
Title: Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Gene trapped (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

D17Dcr1 (e-PCR), detects polymorphism
- UniSTS:507512

MARC_12871-12872:1000494470:1 (e-PCR)
- UniSTS:267466

AA858870 (e-PCR)
- UniSTS:243427

D17Mit198 (e-PCR), detects polymorphism
- UniSTS:116465

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of dendrite development	ISO Inferred from Sequence Orthology more info
involved_in protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic neurotransmitter receptor internalization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in COPI-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic endocytic zone	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	ISO Inferred from Sequence Orthology more info
NOT located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein kinase C and casein kinase substrate in neurons protein 1

Names: Syndapin I; syndapin-1

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_001286743.1 → NP_001273672.1 protein kinase C and casein kinase substrate in neurons protein 1

See identical proteins and their annotated locations for NP_001273672.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript. All variants encode the same protein.

Source sequence(s)

AC131800, AI842330, AK043967, AK158686

Consensus CDS

CCDS28567.1

UniProtKB/Swiss-Prot

Q61644

UniProtKB/TrEMBL

Q3TYF2, Q543Y7

Related

ENSMUSP00000110523.2, ENSMUST00000114873.8

Conserved Domains (2) summary

cd07680
Location:16 → 273

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:385 → 440

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_001286744.1 → NP_001273673.1 protein kinase C and casein kinase substrate in neurons protein 1

See identical proteins and their annotated locations for NP_001273673.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) has an alternate splice site in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC131800, AI842330, AK158686, BC014698

Consensus CDS

CCDS28567.1

UniProtKB/Swiss-Prot

Q61644

UniProtKB/TrEMBL

Q3TYF2, Q543Y7

Related

ENSMUSP00000044168.4, ENSMUST00000045896.11

Conserved Domains (2) summary

cd07680
Location:16 → 273

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:385 → 440

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_011861.3 → NP_035991.1 protein kinase C and casein kinase substrate in neurons protein 1

See identical proteins and their annotated locations for NP_035991.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) has an alternate splice site in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC131800, AI842330, AK043967, AK158686, X85124

Consensus CDS

CCDS28567.1

UniProtKB/Swiss-Prot

Q61644

UniProtKB/TrEMBL

Q3TYF2, Q543Y7

Related

ENSMUSP00000155999.2, ENSMUST00000232437.2

Conserved Domains (2) summary

cd07680
Location:16 → 273

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:385 → 440

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
NM_178365.4 → NP_848142.1 protein kinase C and casein kinase substrate in neurons protein 1

See identical proteins and their annotated locations for NP_848142.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate 5' UTR exon and an alternate splice site in the 5' UTR, compared to variant 3. All variants encode the same protein.

Source sequence(s)

AC131800, AI842330, AK043967, CX200478

Consensus CDS

CCDS28567.1

UniProtKB/Swiss-Prot

Q61644

UniProtKB/TrEMBL

Q3TYF2, Q543Y7

Related

ENSMUSP00000094973.3, ENSMUST00000097360.3

Conserved Domains (2) summary

cd07680
Location:16 → 273

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:385 → 440

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2

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_000083.7 Reference GRCm39 C57BL/6J

Range

27874565..27930092

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524226.4 → XP_006524289.1 protein kinase C and casein kinase substrate in neurons protein 1 isoform X1

See identical proteins and their annotated locations for XP_006524289.1

UniProtKB/Swiss-Prot

Q61644

UniProtKB/TrEMBL

Q3TYF2, Q543Y7

Related

ENSMUSP00000156003.2, ENSMUST00000231669.2

Conserved Domains (2) summary

cd07680
Location:16 → 273

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:385 → 440

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
XM_011246431.3 → XP_011244733.1 protein kinase C and casein kinase substrate in neurons protein 1 isoform X1

See identical proteins and their annotated locations for XP_011244733.1

UniProtKB/Swiss-Prot

Q61644

UniProtKB/TrEMBL

Q3TYF2, Q543Y7

Conserved Domains (2) summary

cd07680
Location:16 → 273

F-BAR_PACSIN1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1)

cd11998
Location:385 → 440

SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2