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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
  • Protein Kinase C And Casein Kinase Substrate In Neurons Protein 3 3
  • SDPIII 3

External Ids for PACSIN3 Gene

Previous GeneCards Identifiers for PACSIN3 Gene

  • GC11M049138
  • GC11M048076
  • GC11M047230
  • GC11M047163
  • GC11M047155
  • GC11M046898
  • GC11M047199
  • GC11M047296
  • GC11M047938
  • GC11M050791
  • GC11M051586
  • GC11M052248
  • GC11M052908

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. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. GO annotations related to this gene include lipid binding and cytoskeletal protein binding. An important paralog of this gene is PACSIN2.

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

Additional gene information for PACSIN3 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H047182 2 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +0.1 91 8 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ENSG00000271350 PACSIN3 LRP4 CELF1 C11orf49 MADD NR1H3 MIR6745
GH11H047267 1.4 ENCODE dbSUPER 20.6 -83.9 -83886 5 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF766 ACP2 FNBP4 PACSIN3 NUP160 ENSG00000200090 ENSG00000270060 DDB2 RPS10P19 NR1H3 ARFGAP2
GH11H047256 1.3 ENCODE dbSUPER 21.1 -72.4 -72355 3 MLX ARID4B DMAP1 BRCA1 YY1 ZNF121 GLIS2 ELK1 ZNF143 DEK PACSIN3 ACP2 ARFGAP2 MADD C1QTNF4
GH11H047247 1.2 ENCODE 19.6 -62.3 -62327 2 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 ZC3H11A MEF2D SSRP1 ZNF610 DDB2 NUP160 PACSIN3 ACP2 RPS10P19 FNBP4 ENSG00000200090 ENSG00000256897 SLC39A13 AMBRA1
GH11H047213 1.4 ENCODE dbSUPER 14.9 -28.9 -28882 3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 FOS LRP4 PACSIN3 SNORD67 LOC100287189 LOC105376662 C11orf49 ATG13 DDB2 ENSG00000256897
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000039646 359 1401 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B GLIS2 ATF7 DEK SP3

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

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

Gene Families for PACSIN3 Gene

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

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.
Family:
  • Belongs to the PACSIN family.
genes like me logo Genes that share domains with PACSIN3: view

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).

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:0008092 cytoskeletal protein binding ISS,IEA --
GO:0008289 lipid binding IDA,IEA 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:

Animal Model Products

CRISPR Products

miRNA for PACSIN3 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PACSIN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
cytosol 5
nucleus 3
endosome 3

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 ISS --
GO:0005768 endosome IBA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0016020 membrane IEA --
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:0030100 regulation of endocytosis IBA --
GO:0045806 negative regulation of endocytosis ISS,IEA --
GO:0051044 positive regulation of membrane protein ectodomain proteolysis IMP 15280379
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 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PACSIN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PACSIN3 Gene



Protein tissue co-expression partners for PACSIN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PACSIN3 Gene:

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

  • Liver(4.2)
  • Skin(4.2)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with PACSIN3: view

Primer Products

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 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia PACSIN3 33 34
  • 91.51 (n)
cow
(Bos Taurus)
Mammalia PACSIN3 33 34
  • 91.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PACSIN3 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PACSIN3 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pacsin3 33 16 34
  • 87.58 (n)
rat
(Rattus norvegicus)
Mammalia Pacsin3 33
  • 87.03 (n)
chicken
(Gallus gallus)
Aves PACSIN3 33 34
  • 71.39 (n)
lizard
(Anolis carolinensis)
Reptilia PACSIN3 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacsin3 33
  • 68.49 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52683 33
zebrafish
(Danio rerio)
Actinopterygii pacsin3 33 34
  • 64.77 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2770 33
fruit fly
(Drosophila melanogaster)
Insecta Synd 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sdpn-1 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.713 34
  • 39 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
Species where no ortholog for PACSIN3 was found in the sources mined by GeneCards:
  • 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
rs1000520132 -- 47,187,385(+) AGGGG(C/G)AGCGC upstream-variant-2KB
rs1000727989 -- 47,177,127(+) TAGTA(C/T)CCTTC downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs1000796273 -- 47,183,088(+) AGAGC(A/G)GGGGT intron-variant
rs1000843883 -- 47,181,044(+) GATCA(C/T)AAGGT intron-variant, upstream-variant-2KB
rs1000863849 -- 47,184,354(+) CTTCC(C/T)CTGTT intron-variant

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)

Relevant External Links 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

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 CP (The Journal of biological chemistry 1999) 2 3 4 60
  2. Versatile membrane deformation potential of activated pacsin. (PMID: 23236520) Goh SL … Sondermann H (PloS one 2012) 3 4 60
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for PACSIN3 Gene

Sources for PACSIN3 Gene

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