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Aliases for PACSIN3 Gene

Aliases for PACSIN3 Gene

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

External Ids for PACSIN3 Gene

Previous GeneCards Identifiers for PACSIN3 Gene

  • GC11M049138
  • GC11M048076
  • GC11M047230
  • GC11M047163
  • GC11M047155
  • GC11M046898
  • GC11M047199
  • GC11M047296
  • GC11M047938

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. GO annotations related to this gene include lipid binding and cytoskeletal protein binding. An important paralog of this gene is PACSIN1.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PACSIN3 Gene

Genomics for PACSIN3 Gene

Regulatory Elements for PACSIN3 Gene

Enhancers for PACSIN3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PACSIN3 on UCSC Golden Path with GeneCards custom track

Promoters for PACSIN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PACSIN3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PACSIN3 Gene

Chromosome:
11
Start:
47,177,522 bp from pter
End:
47,186,459 bp from pter
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 StructureGene Density

RefSeq DNA sequence for PACSIN3 Gene

Proteins for PACSIN3 Gene

  • 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

Proteomics data for PACSIN3 Gene at MOPED

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

No data available for DME Specific Peptides for PACSIN3 Gene

Domains & Families for PACSIN3 Gene

Protein Domains for PACSIN3 Gene

Suggested Antigen Peptide Sequences for PACSIN3 Gene

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.
  • Contains 1 F-BAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the PACSIN family.
genes like me logo Genes that share domains with PACSIN3: view

No data available for Gene Families for PACSIN3 Gene

Function for PACSIN3 Gene

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).
genes like me logo Genes that share phenotypes with PACSIN3: view

Animal Models for PACSIN3 Gene

MGI Knock Outs for PACSIN3:

Animal Model Products

CRISPR Products

miRNA for PACSIN3 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PACSIN3 Gene COMPARTMENTS Subcellular localization image for PACSIN3 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 4
endosome 3

Gene Ontology (GO) - Cellular Components for PACSIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PACSIN3: view

Pathways & Interactions for PACSIN3 Gene

SuperPathways for PACSIN3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PACSIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030100 regulation of endocytosis IBA --
GO:0045806 negative regulation of endocytosis IEA,ISS --
GO:0051926 negative regulation of calcium ion transport IEA,ISS --
genes like me logo Genes that share ontologies with PACSIN3: view

No data available for Pathways by source and SIGNOR curated interactions for PACSIN3 Gene

Drugs & Compounds for PACSIN3 Gene

No Compound Related Data Available

Transcripts for PACSIN3 Gene

Unigene Clusters for PACSIN3 Gene

Protein kinase C and casein kinase substrate in neurons 3:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PACSIN3

Expression for PACSIN3 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PACSIN3 Gene



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.
genes like me logo Genes that share expression patterns with PACSIN3: view

Protein tissue co-expression partners for PACSIN3 Gene

Primer Products

Orthologs for PACSIN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACSIN3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PACSIN3 35
  • 91.05 (n)
  • 95.49 (a)
PACSIN3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PACSIN3 35
  • 91.51 (n)
  • 96.46 (a)
PACSIN3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pacsin3 35
  • 87.58 (n)
  • 94.34 (a)
Pacsin3 16
Pacsin3 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PACSIN3 35
  • 99.69 (n)
  • 100 (a)
PACSIN3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pacsin3 35
  • 87.03 (n)
  • 93.63 (a)
oppossum
(Monodelphis domestica)
Mammalia PACSIN3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PACSIN3 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACSIN3 35
  • 71.39 (n)
  • 70.21 (a)
PACSIN3 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PACSIN3 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacsin3 35
  • 68.49 (n)
  • 66.03 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52683 35
zebrafish
(Danio rerio)
Actinopterygii pacsin3 35
  • 64.77 (n)
  • 62.22 (a)
pacsin3 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2770 35
fruit fly
(Drosophila melanogaster)
Insecta Synd 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sdpn-1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
ManyToMany
CSA.713 36
  • 39 (a)
ManyToMany
Species with no ortholog for PACSIN3:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PACSIN3 Gene

Paralogs for PACSIN3 Gene

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

Variants for PACSIN3 Gene

Sequence variations from dbSNP and Humsavar for PACSIN3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7106654 - 47,182,432(+) TTCGG(A/G)CCCAG reference, missense
rs901747 -- 47,183,430(-) GCCAA(C/G)ACAGA intron-variant
rs901748 -- 47,186,997(+) AAGGC(A/C)TGAGA upstream-variant-2KB
rs901749 -- 47,187,047(+) CTCCC(C/G)CTCCG upstream-variant-2KB
rs901750 -- 47,187,921(+) TCTGA(A/G)ACCAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PACSIN3 Gene

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294
nsv897324 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PACSIN3 Gene

Disorders for PACSIN3 Gene

Relevant External Links for PACSIN3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PACSIN3

No disorders were found for PACSIN3 Gene.

No data available for MalaCards , 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 C.P. (J. Biol. Chem. 1999) 2 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for PACSIN3 Gene

Sources for PACSIN3 Gene

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