PACSIN3 Gene (Protein Coding)

Protein Kinase C And Casein Kinase Substrate In Neurons 3

GC11M061115
GIFtS:
37
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] See more...

Aliases for PACSIN3 Gene

Aliases for PACSIN3 Gene

  • Protein Kinase C And Casein Kinase Substrate In Neurons 3 2 3 5
  • Protein Kinase C And Casein Kinase Substrate In Neurons Protein 3 3 4
  • SH3 Domain-Containing Protein 6511 3 4
  • Syndapin III 2 3
  • SDPIII 2 3
  • PACSIN3 5

External Ids for PACSIN3 Gene

Previous GeneCards Identifiers for PACSIN3 Gene

  • GC11M049138
  • GC11M048076
  • GC11M047230
  • GC11M047163
  • GC11M047155
  • GC11M046898
  • GC11M047199
  • GC11M047296
  • GC11M047938
  • GC11M055804
  • GC11M056026
  • GC11M056168
  • GC11M059685
  • GC11M050791
  • GC11M051586
  • GC11M052248
  • GC11M052908
  • GC11M053576
  • GC11M054242
  • GC11M054908
  • GC11M055607

Summaries for PACSIN3 Gene

Entrez Gene Summary for PACSIN3 Gene

  • 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]

GeneCards Summary for PACSIN3 Gene

PACSIN3 (Protein Kinase C And Casein Kinase Substrate In Neurons 3) is a Protein Coding gene. Diseases associated with PACSIN3 include Hereditary Motor And Sensory Neuropathy, Type Iic and Metatropic Dysplasia. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and cytoskeletal protein binding. An important paralog of this gene is PACSIN2.

UniProtKB/Swiss-Prot Summary for PACSIN3 Gene

  • Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity).

Gene Wiki entry for PACSIN3 Gene

Additional gene information for PACSIN3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PACSIN3 Gene

Genomics for PACSIN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PACSIN3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PACSIN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PACSIN3

Top Transcription factor binding sites by QIAGEN in the PACSIN3 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • COMP1
  • NF-1
  • NF-1/L
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for PACSIN3 Gene

Genomic Locations for PACSIN3 Gene
chr11:47,177,521-47,186,446
(GRCh38/hg38)
Size:
8,926 bases
Orientation:
Minus strand
chr11:47,199,073-47,208,010
(GRCh37/hg19)
Size:
8,938 bases
Orientation:
Minus strand

Genomic View for PACSIN3 Gene

Genes around PACSIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PACSIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PACSIN3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PACSIN3 Gene

Proteins for PACSIN3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PACSIN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKS6-PACN3_HUMAN
    Recommended name:
    Protein kinase C and casein kinase substrate in neurons protein 3
    Protein Accession:
    Q9UKS6
    Secondary Accessions:
    • A6NH84
    • Q9H331
    • Q9NWV9

    Protein attributes for PACSIN3 Gene

    Size:
    424 amino acids
    Molecular mass:
    48487 Da
    Quaternary structure:
    • Homodimer. May form heterooligomers with other PACSINs. Interacts (via SH3 domain) with DNM1, SYNJ1 and WASL. Interacts with TRPV4 (By similarity).

neXtProt entry for PACSIN3 Gene

Protein Expression for PACSIN3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PACSIN3 Gene

  • Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PACSIN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PACSIN3 Gene

Domains & Families for PACSIN3 Gene

Gene Families for PACSIN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PACSIN3 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Cdc15/Fes/CIP4
ProtoNet:

Suggested Antigen Peptide Sequences for PACSIN3 Gene

GenScript: Design optimal peptide antigens:
  • Protein kinase C and casein kinase substrate in neurons 3, isoform CRA_b (D3DQR0_HUMAN)
  • SH3 domain-containing protein 6511 (PACN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKS6

UniProtKB/Swiss-Prot:

PACN3_HUMAN :
  • The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation.
  • Belongs to the PACSIN family.
Domain:
  • The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation.
Family:
  • Belongs to the PACSIN family.
genes like me logo Genes that share domains with PACSIN3: view

Function for PACSIN3 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PACSIN3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity (By similarity).

Phenotypes From GWAS Catalog for PACSIN3 Gene

Gene Ontology (GO) - Molecular Function for PACSIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10531379
GO:0005543 phospholipid binding IBA 21873635
GO:0008092 cytoskeletal protein binding IEA,ISS --
GO:0008289 lipid binding IEA,IDA 23236520
GO:0019855 calcium channel inhibitor activity IEA,ISS --
genes like me logo Genes that share ontologies with PACSIN3: view
genes like me logo Genes that share phenotypes with PACSIN3: view

Animal Models for PACSIN3 Gene

MGI Knock Outs for PACSIN3:
  • Pacsin3 Pacsin3<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PACSIN3 Gene

miRTarBase miRNAs that target PACSIN3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PACSIN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PACSIN3 Gene

Localization for PACSIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACSIN3 Gene

Cytoplasm. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Note=Detected at the inner aspect of the plasma membrane in myotubes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PACSIN3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 3
endosome 3
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PACSIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,ISS --
GO:0005768 endosome IBA 21873635
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane IBA,IDA --
genes like me logo Genes that share ontologies with PACSIN3: view

Pathways & Interactions for PACSIN3 Gene

genes like me logo Genes that share pathways with PACSIN3: view

Pathways by source for PACSIN3 Gene

Gene Ontology (GO) - Biological Process for PACSIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007010 cytoskeleton organization IBA 21873635
GO:0030100 regulation of endocytosis IBA 21873635
GO:0045806 negative regulation of endocytosis IEA,ISS --
GO:0051044 positive regulation of membrane protein ectodomain proteolysis IMP 15280379
genes like me logo Genes that share ontologies with PACSIN3: view

No data available for SIGNOR curated interactions for PACSIN3 Gene

Drugs & Compounds for PACSIN3 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for PACSIN3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PACSIN3 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PACSIN3

Alternative Splicing Database (ASD) splice patterns (SP) for PACSIN3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - -
SP7: - - - - - - -
SP8:
SP9: - -
SP10: -

Relevant External Links for PACSIN3 Gene

GeneLoc Exon Structure for
PACSIN3

Expression for PACSIN3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PACSIN3 Gene

mRNA expression in normal human tissues for PACSIN3 Gene
mRNA expression by GTEx for PACSIN3 GenemRNA expression by BioGPS for PACSIN3 Gene

mRNA differential expression in normal tissues according to GTEx for PACSIN3 Gene

This gene is overexpressed in Muscle - Skeletal (x9.9) and Heart - Left Ventricle (x5.4).

Protein differential expression in normal tissues from HIPED for PACSIN3 Gene

This gene is overexpressed in Heart (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PACSIN3 Gene



Protein tissue co-expression partners for PACSIN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PACSIN3

SOURCE GeneReport for Unigene cluster for PACSIN3 Gene:

Hs.334639

mRNA Expression by UniProt/SwissProt for PACSIN3 Gene:

Q9UKS6-PACN3_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart and skeletal muscle, intermediate levels in placenta, liver and pancreas, and very low levels in brain, lung and kidney.

Evidence on tissue expression from TISSUES for PACSIN3 Gene

  • Skin(4.4)
  • Liver(4.3)
  • Muscle(3.2)
  • Heart(2.5)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with PACSIN3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PACSIN3 Gene

Orthologs for PACSIN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACSIN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PACSIN3 30 31
  • 99.69 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PACSIN3 30 31
  • 91.51 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PACSIN3 30 31
  • 91.05 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PACSIN3 31
  • 89 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PACSIN3 31
  • 88 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pacsin3 30 17 31
  • 87.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pacsin3 30
  • 87.03 (n)
Chicken
(Gallus gallus)
 Aves PACSIN3 30 31
  • 71.39 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PACSIN3 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pacsin3 30
  • 68.49 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC52683 30
Zebrafish
(Danio rerio)
 Actinopterygii pacsin3 30 31
  • 64.77 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2770 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Synd 31
  • 35 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea sdpn-1 31
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.713 31
  • 39 (a)
 ManyToMany
-- 31
  • 32 (a)
 ManyToMany
Species where no ortholog for PACSIN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PACSIN3 Gene

ENSEMBL:
Gene Tree for PACSIN3 (if available)
TreeFam:
Gene Tree for PACSIN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PACSIN3: view image

Paralogs for PACSIN3 Gene

Paralogs for PACSIN3 Gene

(6) SIMAP similar genes for PACSIN3 Gene using alignment to 9 proteins:

  • PACN3_HUMAN
  • D3DQR0_HUMAN
  • E9PIY1_HUMAN
  • E9PIZ6_HUMAN
  • E9PJ33_HUMAN
  • E9PJ75_HUMAN
  • E9PNM9_HUMAN
  • E9PQ12_HUMAN
  • H0YDM6_HUMAN
genes like me logo Genes that share paralogs with PACSIN3: view

Variants for PACSIN3 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PACSIN3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs7106654 - p.Ala61Val

Additional dbSNP identifiers (rs#s) for PACSIN3 Gene

Variation tolerance for PACSIN3 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.23; 76.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PACSIN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PACSIN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PACSIN3 Gene

Disorders for PACSIN3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PACSIN3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PACSIN3

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PACSIN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PACSIN3 Gene

Publications for PACSIN3 Gene

  1. Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1. (PMID: 10531379) Howard L … Blobel CP (The Journal of biological chemistry 1999) 2 3 4
  2. Versatile membrane deformation potential of activated pacsin. (PMID: 23236520) Goh SL … Sondermann H (PloS one 2012) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for PACSIN3 gene in Mastermind

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