PACSIN3 - protein kinase C and casein kinase substrate in neurons 3 Gene

Homo sapiens

Also known as SDPIII

Gene ID: 29763 | Gene type: protein coding

About PACSIN3

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,177,522-47,186,434 (from NCBI)

This gene has 11 transcripts (splice variants), 206 orthologues and 2 paralogues. Broad expression in heart (RPKM 38.4), adrenal (RPKM 19.1) and 17 other tissues.

Summary

This gene is a member of the protein kinase C and Casein Kinase substrate in neurons family. The encoded protein is involved in linking the actin Cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PACSIN3 Products(3)

mRNA	Protein	Name
NM_001184974.2	NP_001171903.1	protein kinase C and casein kinase substrate in neurons protein 3
NM_001184975.2	NP_001171904.1	protein kinase C and casein kinase substrate in neurons protein 3
NM_016223.5	NP_057307.2	protein kinase C and casein kinase substrate in neurons protein 3

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables lipid binding	IDA IDA: Inferred from direct assay	23236520	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10531379	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in plasma membrane tubulation	IDA IDA: Inferred from direct assay	23236520	GOA
involved in positive regulation of membrane protein ectodomain proteolysis	IMP IMP: Inferred from mutant phenotype	15280379	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PACSIN3 Protein Structure

FCH

SH3_9

0
100
200
300
400
424 a.a.

Protein Preferred Names

Protein Names

protein kinase C and casein kinase substrate in neurons protein 3

SH3 domain-containing protein 6511

Related Diseases

Diseases

Alias

Scapuloperoneal Spinal Muscular Atrophy

SPSMA	Amyotrophy, Neurogenic Scapuloperoneal, New England Type
Neurogenic Scapuloperoneal Amyotrophy, New England Type	Scapuloperoneal Neuronopathy
Spinal Muscular Atrophy, Scapuloperoneal	Amyotrophy Neurogenic Scapuloperoneal New England Type
Muscular Atrophy, Spinal	Scapuloperoneal Form Of Spinal Muscular Atrophy

Metatropic Dysplasia

Metatropic Dwarfism	MTD
Metatropic Dysplasia Type 1	Metatropic Dysplasia, Nonlethal Dominant

Spondylometaphyseal Dysplasia, Kozlowski Type

Spondylometaphyseal Dysplasia Kozlowski Type	Jequier Kozlowski Skeletal Dysplasia
Smd Kozlowski Type	SMDK
Dysmorphism Arthrogryposis Skeletal Maturation Advanced	Jequier-Kozlowski Syndrome
Skeletal Dysplasia Jequier-Kozlowski Type	Smd, Kozlowski Type

Parastremmatic Dwarfism

Parastremmatic Dysplasia	PSTD
Dwarfism, Parastremmatic

Hereditary Motor And Sensory Neuropathy, Type Iic

CMT2C	Charcot-Marie-Tooth Disease Axonal Type 2c
HMSN2C	Hmsn Iic
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c	Charcot-Marie-Tooth Neuropathy Type 2c
Hereditary Motor And Sensory Neuropathy Type Iic	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
Charcot-Marie-Tooth Neuropathy, Type 2c	Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease 2c	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
Charcot-Marie-Tooth Disease, Type 2c

Brachyolmia

Brachyrachia

Spondyloepiphyseal Dysplasia, Maroteaux Type

Spondyloepiphyseal Dysplasia Maroteaux Type	Pseudo-Morquio Syndrome Type 2
Sed, Maroteaux Type	Brachyolmia Type 2
Pseudo-Morquio Syndrome, Type 2	Spondyloepiphyseal Dysplasia Of Maroteaux
Brachyolmia Maroteaux Type	SEDM
Sed Maroteaux Type	Dysplasia, Spondyloepiphyseal, Maroteaux Type

Motor Peripheral Neuropathy

Motor Neuritis	Peripheral Motor Neuropathy
Hereditary Motor And Sensory Neuropathy	Hsmn
Hsmn - Hereditary Sensory And Motor Neuropathy	Neuropathic Muscular Atrophy
Hereditary Sensory And Motor Neuropathy	Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09959	PACSIN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PACSIN3	VGNC	VGNC:75746
Felis catus	PACSIN3	VGNC	VGNC:68683
Rattus norvegicus	PACSIN3	RGD	RGD:1307327
Bos taurus	PACSIN3	VGNC	VGNC:32544
Canis familiaris	PACSIN3	VGNC	VGNC:44233
Mus musculus	PACSIN3	MGD	MGI:1891410

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