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

Also Known as SDPIII

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29763

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
Molecular Function GO Annotation Evidence References 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 References 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

FCH: Fes/CIP4, and EFC/F-BAR homology domain (15 - 102)

SH3_9

SH3_9: Variant SH3 domain (370 - 420)

  • 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

PACSIN3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PACSIN3 Q9UKS6 KRTAP12-2 Homo sapiens P59991 32296183
Intra
PACSIN3 Q9UKS6 KRTAP12-2 Homo sapiens P59991 32296183
Intra
PACSIN3 Q9UKS6 SOS1 Homo sapiens Q07889 14679214
Intra
PACSIN3 Q9UKS6 SOS1 Homo sapiens Q07889 14679214
Intra
PACSIN3 Q9UKS6 SOS2 Homo sapiens Q07890 14679214
Intra
PACSIN3 Q9UKS6 SOS2 Homo sapiens Q07890 14679214
Intra
PACSIN3 Q9UKS6 LGALS13 Homo sapiens Q9UHV8 25416956
Intra
PACSIN3 Q9UKS6 LGALS13 Homo sapiens Q9UHV8 25416956
Intra
PACSIN3 Q9UKS6 FASLG Homo sapiens P48023 16318909
Intra
PACSIN3 Q9UKS6 FASLG Homo sapiens P48023 16318909
Intra
PACSIN3 Q9UKS6 FASLG Homo sapiens P48023 16318909
Intra
PACSIN3 Q9UKS6 PACSIN1 Homo sapiens Q9BY11 25416956
Intra
PACSIN3 Q9UKS6 PACSIN1 Homo sapiens Q9BY11 32296183
Intra
PACSIN3 Q9UKS6 PACSIN1 Homo sapiens Q9BY11 32296183
Intra
PACSIN3 Q9UKS6 PACSIN2 Homo sapiens Q9UNF0 32296183
Intra
PACSIN3 Q9UKS6 PACSIN2 Homo sapiens Q9UNF0 35271311
Intra
PACSIN3 Q9UKS6 PACSIN2 Homo sapiens Q9UNF0 33961781
Intra
PACSIN3 Q9UKS6 ADAM15 Homo sapiens Q13444 10531379
Intra
PACSIN3 Q9UKS6 ADAM9 Homo sapiens Q13443
Y2H
10531379
Intra
PACSIN3 Q9UKS6 ADAM9 Homo sapiens Q13443 10531379
Intra
PACSIN3 Q9UKS6 WASL Homo sapiens O00401 32296183
Intra
PACSIN3 Q9UKS6 WASL Homo sapiens O00401 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

PACSIN3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82795 PACSIN3 Antibody (YA2540) WB, IHC-F, IHC-P, ICC/IF, IP Human
HY-P82795A PACSIN3 Antibody (YA2540)(PBS only) WB, IHC-F, IHC-P, ICC/IF, IP Human
HY-P86280 PACSIN3 Antibody (YA5972) WB, IHC-P, ICC/IF, FC, IP Human

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

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
Others PACSIN3 NCBI