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    PACSIN3 protein kinase C and casein kinase substrate in neurons 3 [ Homo sapiens (human) ]

    Gene ID: 29763, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PACSIN3provided by HGNC
    Official Full Name
    protein kinase C and casein kinase substrate in neurons 3provided by HGNC
    Primary source
    HGNC:HGNC:8572
    See related
    Ensembl:ENSG00000165912 MIM:606513; AllianceGenome:HGNC:8572
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDPIII
    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]
    Expression
    Broad expression in heart (RPKM 38.4), adrenal (RPKM 19.1) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PACSIN3 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47177522..47186434, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47334276..47343188, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47199073..47207985, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene centriolar satellite-associated tubulin polyglutamylase complex regulator 1 Neighboring gene uncharacterized LOC124902672 Neighboring gene Sharpr-MPRA regulatory region 11477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47198949-47199530 Neighboring gene ARF GTPase activating protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47207755-47208641 Neighboring gene microRNA 6745 Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47231264-47231443 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47235129-47235965 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:47236089-47237288 Neighboring gene damage specific DNA binding protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Show that in neuroendocrine chromaffin cells fusion pore expansion and catecholamine release are limited specifically by mutation of syndapin 3.
      Title: Syndapin 3 modulates fusion pore expansion in mouse neuroendocrine chromaffin cells.
    2. Rigidity of wedge loop in PACSIN 3 protein is a key factor in dictating diameters of tubules
      Title: Rigidity of wedge loop in PACSIN 3 protein is a key factor in dictating diameters of tubules.
    3. PACSIN 3 acts as an auxiliary protein of TRPV4 channel that not only affects the channel's subcellular localization but also modulates its function in a stimulus-specific manner.
      Title: Stimulus-specific modulation of the cation channel TRPV4 by PACSIN 3.
    4. PACSIN3 has a novel function as an up-regulator in the signaling of proHB-EGF shedding induced by TPA and angiotensin II
      Title: PACSIN3 binds ADAM12/meltrin alpha and up-regulates ectodomain shedding of heparin-binding epidermal growth factor-like growth factor.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ17861

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cytoskeletal protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in plasma membrane tubulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane tubulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of membrane protein ectodomain proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein kinase C and casein kinase substrate in neurons protein 3
    Names
    SH3 domain-containing protein 6511
    syndapin III

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001184974.2 → NP_001171903.1  protein kinase C and casein kinase substrate in neurons protein 3

      See identical proteins and their annotated locations for NP_001171903.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC090589, AF149825, BC007914
      Consensus CDS
      CCDS31481.1
      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6
      UniProtKB/TrEMBL
      A0A0C4DGG1
      Conserved Domains (2) summary
      cl12013
      Location:16 → 273
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:365 → 420
      SH3; Src Homology 3 domain superfamily

    2. NM_001184975.2 → NP_001171904.1  protein kinase C and casein kinase substrate in neurons protein 3

      See identical proteins and their annotated locations for NP_001171904.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK000577, BC007914
      Consensus CDS
      CCDS31481.1
      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6
      UniProtKB/TrEMBL
      A0A0C4DGG1
      Related
      ENSP00000440945.1, ENST00000539589.5
      Conserved Domains (2) summary
      cl12013
      Location:16 → 273
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:365 → 420
      SH3; Src Homology 3 domain superfamily

    3. NM_016223.5 → NP_057307.2  protein kinase C and casein kinase substrate in neurons protein 3

      See identical proteins and their annotated locations for NP_057307.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC007914, BC011889, BI601317
      Consensus CDS
      CCDS31481.1
      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6
      UniProtKB/TrEMBL
      A0A0C4DGG1
      Related
      ENSP00000298838.6, ENST00000298838.11
      Conserved Domains (2) summary
      cl12013
      Location:16 → 273
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17036
      Location:365 → 420
      SH3; Src Homology 3 domain superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47177522..47186434 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426852.1 → XP_047282808.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    2. XM_047426850.1 → XP_047282806.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    3. XM_047426857.1 → XP_047282813.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6

    4. XM_047426854.1 → XP_047282810.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    5. XM_047426853.1 → XP_047282809.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    6. XM_047426856.1 → XP_047282812.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6

    7. XM_047426851.1 → XP_047282807.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    8. XM_047426855.1 → XP_047282811.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47334276..47343188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368590.1 → XP_054224565.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    2. XM_054368589.1 → XP_054224564.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    3. XM_054368594.1 → XP_054224569.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6

    4. XM_054368592.1 → XP_054224567.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    5. XM_054368591.1 → XP_054224566.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    6. XM_054368596.1 → XP_054224571.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X1

    7. XM_054368593.1 → XP_054224568.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6

    8. XM_054368595.1 → XP_054224570.1  protein kinase C and casein kinase substrate in neurons protein 3 isoform X2

      UniProtKB/Swiss-Prot
      A6NH84, Q9H331, Q9NWV9, Q9UKS6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKS6.2 GenPept UniProtKB/Swiss-Prot:Q9UKS6

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