Pacsin3 protein kinase C and casein kinase substrate in neurons 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pacsin3provided by MGI
Official Full Name: protein kinase C and casein kinase substrate in neurons 3provided by MGI
Primary source: MGI:MGI:1891410
See related: Ensembl:ENSMUSG00000027257 AllianceGenome:MGI:1891410
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: 4921507A02Rik; 6330413E15Rik
Summary: Enables calcium channel inhibitor activity; cytoskeletal protein binding activity; and lipid binding activity. Involved in negative regulation of calcium ion transport and plasma membrane tubulation. Acts upstream of or within negative regulation of endocytosis. Located in cytoplasm. Is expressed in central nervous system and retina. Orthologous to human PACSIN3 (protein kinase C and casein kinase substrate in neurons 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 20.1), cerebellum adult (RPKM 14.4) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 50.61 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (91086215..91095025)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (91255875..91264680)

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?

The authors show that muscle cells of syndapin III knockout mice show severe reductions of caveolae reminiscent of human caveolinopathies. The membrane-shaping protein syndapin III is crucial for caveolar invagination and gene knockout rendered the cells sensitive to membrane tensions.
Title: Deciphering caveolar functions by syndapin III KO-mediated impairment of caveolar invagination.
Show that in neuroendocrine chromaffin cells fusion pore expansion and catecholamine release are limited specifically by mutation of syndapin 3.
Title: Syndapin 3 modulates fusion pore expansion in mouse neuroendocrine chromaffin cells.
Rigidity of wedge loop in PACSIN 3 protein is a key factor in dictating diameters of tubules
Title: Rigidity of wedge loop in PACSIN 3 protein is a key factor in dictating diameters of tubules.
crystal of PACSIN 3 (1-341) diffracted to 2.6 A resolution and belonged to space group P2(1), with unit-cell parameters a = 46.9, b = 54.7, c = 193.7 A, alpha = 90, beta = 96.9, gamma = 90 degrees
Title: Cloning, purification, crystallization and preliminary X-ray diffraction analysis of mouse PACSIN 3 protein.
These findings suggest a novel function for PACSIN proteins 1, 2, and 3 in dynamic microtubule nucleation.
Title: PACSIN proteins bind tubulin and promote microtubule assembly.
PACSIN 3 acts as an auxiliary protein of TRPV4 channel that not only affects the channel's subcellular localization but also modulates its function in a stimulus-specific manner.
Title: Stimulus-specific modulation of the cation channel TRPV4 by PACSIN 3.
These results establish a role for PACSIN3 in regulating glucose uptake in adipocytes via its preferential participation in GLUT1 trafficking.
Title: PACSIN3 overexpression increases adipocyte glucose transport through GLUT1.
PACSIN 3 specifically affects the endocytosis of TRPV4, thereby modulating the subcellular localization
Title: PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4.

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Variation

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Alleles

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

Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pacsin3 (e-PCR), detects polymorphism
- UniSTS:527472

RH128846 (e-PCR)
- UniSTS:212154

AW413130 (e-PCR)
- UniSTS:178653

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of membrane protein ectodomain proteolysis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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 cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	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 II substrate protein 3

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_001289677.1 → NP_001276606.1 protein kinase C and casein kinase II substrate protein 3

See identical proteins and their annotated locations for NP_001276606.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AK049166, AK078060, AV333674

Consensus CDS

CCDS16429.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Related

ENSMUSP00000054391.5, ENSMUST00000059566.11

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001289678.1 → NP_001276607.1 protein kinase C and casein kinase II substrate protein 3

See identical proteins and their annotated locations for NP_001276607.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AF149824, AK049166, AV333674, BY250979

Consensus CDS

CCDS16429.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Related

ENSMUSP00000028694.6, ENSMUST00000028694.12

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_028733.4 → NP_083009.1 protein kinase C and casein kinase II substrate protein 3

See identical proteins and their annotated locations for NP_083009.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.

Source sequence(s)

AK049166, AV333674

Consensus CDS

CCDS16429.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Related

ENSMUSP00000106981.3, ENSMUST00000111349.9

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_030880.3 → NP_112019.2 protein kinase C and casein kinase II substrate protein 3

See identical proteins and their annotated locations for NP_112019.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.

Source sequence(s)

AK141063, AV333674, BY250979

Consensus CDS

CCDS16429.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Related

ENSMUSP00000129175.2, ENSMUST00000168916.8

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

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

91086215..91095025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252256.2 → XP_030108116.1 protein kinase C and casein kinase II substrate protein 3 isoform X1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006500427.5 → XP_006500490.1 protein kinase C and casein kinase II substrate protein 3 isoform X1

See identical proteins and their annotated locations for XP_006500490.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006500425.1 → XP_006500488.1 protein kinase C and casein kinase II substrate protein 3 isoform X1

See identical proteins and their annotated locations for XP_006500488.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006500428.5 → XP_006500491.1 protein kinase C and casein kinase II substrate protein 3 isoform X1

See identical proteins and their annotated locations for XP_006500491.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006500424.5 → XP_006500487.1 protein kinase C and casein kinase II substrate protein 3 isoform X1

See identical proteins and their annotated locations for XP_006500487.1

UniProtKB/Swiss-Prot

Q99JB8, Q9EQP9

UniProtKB/TrEMBL

Q543N7

Conserved Domains (2) summary

cd11997
Location:365 → 420

SH3_PACSIN3; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 3 (PACSIN3)

cl12013
Location:16 → 273

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature