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Aliases for PACSIN1 Gene

Aliases for PACSIN1 Gene

  • Protein Kinase C And Casein Kinase Substrate In Neurons 1 2 3 5
  • Syndapin I 2 3
  • Syndapin-1 3 4
  • Protein Kinase C And Casein Kinase Substrate In Neurons Protein 1 3
  • KIAA1379 4
  • SDPI 3

External Ids for PACSIN1 Gene

Previous GeneCards Identifiers for PACSIN1 Gene

  • GC06P034435
  • GC06P034480
  • GC06P034541
  • GC06P034156
  • GC06P034562
  • GC06P035769
  • GC06P036299
  • GC06P037285
  • GC06P034921
  • GC06P035504
  • GC06P037625
  • GC06P038314

Summaries for PACSIN1 Gene

GeneCards Summary for PACSIN1 Gene

PACSIN1 (Protein Kinase C And Casein Kinase Substrate In Neurons 1) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. GO annotations related to this gene include phospholipid binding and cytoskeletal protein binding. An important paralog of this gene is PACSIN2.

UniProtKB/Swiss-Prot for PACSIN1 Gene

  • Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane tubulation.

Gene Wiki entry for PACSIN1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PACSIN1 Gene

Genomics for PACSIN1 Gene

Regulatory Elements for PACSIN1 Gene

Enhancers for PACSIN1 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
GH06F034143 0.3 FANTOM5 1.6 -322.2 -322217 0.3 CTCF PKNOX1 ZIC2 ZNF2 ZBTB48 PATZ1 ZNF600 ZBTB20 EZH2 L3MBTL2 GRM4 MLN LEMD2 PACSIN1 PIR53321
GH06F034142 1.1 FANTOM5 ENCODE 1.4 -323.3 -323295 0.3 ZIC2 EGR2 GRM4 IP6K3 MLN PACSIN1 PIR53321
GH06F034144 0.6 FANTOM5 1.3 -321.4 -321425 0.4 RING1 CTCF ZNF76 BCL11B ZFHX2 GLIS2 POLR2A PATZ1 ZNF600 ZSCAN29 LEMD2 HCG25 GRM4 RXRB MLN VPS52 PACSIN1 PIR53321
GH06F034462 0.6 Ensembl ENCODE 0.8 -3.3 -3330 0.7 HDGF PKNOX1 KLF17 NFXL1 RAD21 ZNF2 ZNF121 ZNF391 EGR2 ZNF263 PACSIN1 RPS10 RPS10-NUDT3
GH06F034468 0.5 ENCODE 0.8 +2.5 2518 0.2 MAZ MTA2 BHLHE40 EBF1 TBX21 EP300 ZNF623 EED IKZF1 TARDBP UHRF1BP1 PACSIN1 SPDEF
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PACSIN1 on UCSC Golden Path with GeneCards custom track

Promoters for PACSIN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001880036 39 1001 BCOR PKNOX1 ZIC2 HIC1 ZFHX2 GLIS2 POLR2A PRDM10 ZNF600 CREM

Genomic Location for PACSIN1 Gene

Chromosome:
6
Start:
34,466,061 bp from pter
End:
34,536,262 bp from pter
Size:
70,202 bases
Orientation:
Plus strand

Genomic View for PACSIN1 Gene

Genes around PACSIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PACSIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PACSIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PACSIN1 Gene

Proteins for PACSIN1 Gene

  • Protein details for PACSIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BY11-PACN1_HUMAN
    Recommended name:
    Protein kinase C and casein kinase substrate in neurons protein 1
    Protein Accession:
    Q9BY11
    Secondary Accessions:
    • Q9P2G8

    Protein attributes for PACSIN1 Gene

    Size:
    444 amino acids
    Molecular mass:
    50966 Da
    Quaternary structure:
    • May form heterooligomers with other PACSINs. Interacts with MAPT. Interacts with TRPV4 (By similarity). Interacts (via SH3 domain) with SYNJ1 and WASL. Interacts with DNM2 and DNM3. Interacts with both COBL and DBNL. Identified in a complex composed of COBL, PACSIN1 and WASL. Interacts with EHD1 and EHD3 (By similarity). Homodimer. Interacts (via SH3 domain) with DNM1; the interaction is reduced by DNM1 phosphorylation.
    SequenceCaution:
    • Sequence=BAA92617.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PACSIN1 Gene

neXtProt entry for PACSIN1 Gene

Post-translational modifications for PACSIN1 Gene

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

Other Protein References for PACSIN1 Gene

Antibody Products

  • Abcam antibodies for PACSIN1
  • Santa Cruz Biotechnology (SCBT) Antibodies for PACSIN1

No data available for DME Specific Peptides for PACSIN1 Gene

Domains & Families for PACSIN1 Gene

Gene Families for PACSIN1 Gene

Protein Domains for PACSIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BY11

UniProtKB/Swiss-Prot:

PACN1_HUMAN :
  • The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR domain. DNM1 binding abolishes autoinhibition (By similarity).
  • Belongs to the PACSIN family.
Domain:
  • The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR domain. DNM1 binding abolishes autoinhibition (By similarity).
  • Contains 1 F-BAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the PACSIN family.
genes like me logo Genes that share domains with PACSIN1: view

Function for PACSIN1 Gene

Molecular function for PACSIN1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiting DNM1, DNM2 and DNM3 to membranes. Plays a role in the reorganization of the actin cytoskeleton and in neuron morphogenesis via its interaction with COBL and WASL, and by recruiting COBL to the cell cortex. Plays a role in the regulation of neurite formation, neurite branching and the regulation of neurite length. Required for normal synaptic vesicle endocytosis; this process retrieves previously released neurotransmitters to accommodate multiple cycles of neurotransmission. Required for normal excitatory and inhibitory synaptic transmission (By similarity). Binds to membranes via its F-BAR domain and mediates membrane tubulation.

Gene Ontology (GO) - Molecular Function for PACSIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005543 phospholipid binding IDA 19549836
GO:0008092 cytoskeletal protein binding IEA --
GO:0008289 lipid binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PACSIN1: view
genes like me logo Genes that share phenotypes with PACSIN1: view

Animal Models for PACSIN1 Gene

MGI Knock Outs for PACSIN1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PACSIN1

miRNA for PACSIN1 Gene

miRTarBase miRNAs that target PACSIN1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PACSIN1 Gene

Localization for PACSIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACSIN1 Gene

Cytoplasm. Cell projection. Cell junction, synapse, synaptosome. Cell projection, ruffle membrane. Membrane; Peripheral membrane protein. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cell junction, synapse. Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with MAPT in axons. In primary neuronal cultures, present at a high level in presynaptic nerve terminals and in the cell body. Colocalizes with DNM1 at vesicular structures in the cell body and neurites (By similarity). Associates with membranes via its F-BAR domain. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PACSIN1 Gene COMPARTMENTS Subcellular localization image for PACSIN1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
endosome 3
golgi apparatus 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PACSIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005768 endosome IBA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA,ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PACSIN1: view

Pathways & Interactions for PACSIN1 Gene

genes like me logo Genes that share pathways with PACSIN1: view

Pathways by source for PACSIN1 Gene

Gene Ontology (GO) - Biological Process for PACSIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007015 actin filament organization IEA --
GO:0016310 phosphorylation IEA --
GO:0030100 regulation of endocytosis IBA --
GO:0045806 negative regulation of endocytosis IEA --
genes like me logo Genes that share ontologies with PACSIN1: view

No data available for SIGNOR curated interactions for PACSIN1 Gene

Transcripts for PACSIN1 Gene

Unigene Clusters for PACSIN1 Gene

Protein kinase C and casein kinase substrate in neurons 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PACSIN1 Gene

No ASD Table

Relevant External Links for PACSIN1 Gene

GeneLoc Exon Structure for
PACSIN1
ECgene alternative splicing isoforms for
PACSIN1

Expression for PACSIN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PACSIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PACSIN1 Gene

This gene is overexpressed in Brain - Cortex (x8.1), Brain - Frontal Cortex (BA9) (x6.6), Brain - Anterior cingulate cortex (BA24) (x6.4), Brain - Amygdala (x5.2), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for PACSIN1 Gene

This gene is overexpressed in Brain (33.6), Frontal cortex (19.5), and Retina (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PACSIN1 Gene



Protein tissue co-expression partners for PACSIN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PACSIN1 Gene:

PACSIN1

SOURCE GeneReport for Unigene cluster for PACSIN1 Gene:

Hs.520087

mRNA Expression by UniProt/SwissProt for PACSIN1 Gene:

Q9BY11-PACN1_HUMAN
Tissue specificity: Highly expressed in brain and, at much lower levels, in heart and pancreas.
genes like me logo Genes that share expression patterns with PACSIN1: view

Primer Products

Orthologs for PACSIN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACSIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PACSIN1 34 35
  • 92.86 (n)
cow
(Bos Taurus)
Mammalia PACSIN1 34 35
  • 92.34 (n)
dog
(Canis familiaris)
Mammalia PACSIN1 34 35
  • 91.97 (n)
mouse
(Mus musculus)
Mammalia Pacsin1 34 16 35
  • 89.8 (n)
rat
(Rattus norvegicus)
Mammalia Pacsin1 34
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PACSIN1 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PACSIN1 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACSIN1 34 35
  • 81.87 (n)
lizard
(Anolis carolinensis)
Reptilia PACSIN1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacsin1 34
  • 69.68 (n)
zebrafish
(Danio rerio)
Actinopterygii pacsin1b 34 35
  • 74.89 (n)
pacsin1a 35
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Synd 35
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F45E1.7 36
  • 30 (a)
sdpn-1 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.713 35
  • 43 (a)
ManyToMany
-- 35
  • 34 (a)
ManyToMany
Species where no ortholog for PACSIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PACSIN1 Gene

ENSEMBL:
Gene Tree for PACSIN1 (if available)
TreeFam:
Gene Tree for PACSIN1 (if available)

Paralogs for PACSIN1 Gene

Paralogs for PACSIN1 Gene

(6) SIMAP similar genes for PACSIN1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PACSIN1: view

Variants for PACSIN1 Gene

Sequence variations from dbSNP and Humsavar for PACSIN1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10608785 -- 34,483,660(+) TTTTT(-/TTT)GAGAC intron-variant, upstream-variant-2KB
rs10638490 -- 34,489,184(+) AAAAA(-/A)GTATA intron-variant
rs10664263 -- 34,468,904(+) AGTGA(-/GTGA)CTGTT intron-variant
rs10947505 -- 34,495,304(+) GAATT(C/G)TTTCC intron-variant
rs10947506 -- 34,497,104(+) CCACC(A/G)CACCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PACSIN1 Gene

Variant ID Type Subtype PubMed ID
dgv5953n100 CNV loss 25217958
esv2673003 CNV deletion 23128226
esv2759418 CNV gain 17122850
esv3608662 CNV loss 21293372
esv3608663 CNV loss 21293372
nsv1016788 CNV loss 25217958
nsv1026919 CNV loss 25217958
nsv462904 CNV gain 19166990
nsv516578 CNV loss 19592680
nsv602903 CNV gain 21841781
nsv950159 CNV deletion 24416366

Variation tolerance for PACSIN1 Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PACSIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PACSIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PACSIN1 Gene

Disorders for PACSIN1 Gene

Relevant External Links for PACSIN1

Genetic Association Database (GAD)
PACSIN1
Human Genome Epidemiology (HuGE) Navigator
PACSIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PACSIN1

No disorders were found for PACSIN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PACSIN1 Gene

Publications for PACSIN1 Gene

  1. PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. (PMID: 11179684) Sumoy L. … Escarceller M. (Gene 2001) 2 3 4 64
  2. Versatile membrane deformation potential of activated pacsin. (PMID: 23236520) Goh S.L. … Sondermann H. (PLoS ONE 2012) 3 4 64
  3. Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin. (PMID: 19549836) Wang Q. … Sondermann H. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
  4. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D. … Taylor P.R. (Int. J. Cancer 2008) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PACSIN1 Gene

Sources for PACSIN1 Gene

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