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

Gene ID: 29763, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47177522..47186434, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47334276..47343188, complement)
105.20220307 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 ADP ribosylation factor 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
  • 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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Related articles in PubMed

  1. Syndapin 3 modulates fusion pore expansion in mouse neuroendocrine chromaffin cells. Samasilp P, et al. Am J Physiol Cell Physiol, 2014 May 1. PMID 24500282, Free PMC Article
  2. The syndapin protein family: linking membrane trafficking with the cytoskeleton. Kessels MM, et al. J Cell Sci, 2004 Jul 1. PMID 15226389
  3. Versatile membrane deformation potential of activated pacsin. Goh SL, et al. PLoS One, 2012. PMID 23236520, Free PMC Article
  4. Rigidity of wedge loop in PACSIN 3 protein is a key factor in dictating diameters of tubules. Bai X, et al. J Biol Chem, 2012 Jun 22. PMID 22573331, Free PMC Article
  5. PACSIN3 binds ADAM12/meltrin alpha and up-regulates ectodomain shedding of heparin-binding epidermal growth factor-like growth factor. Mori S, et al. J Biol Chem, 2003 Nov 14. PMID 12952982

See all (65) citations in PubMed

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)

Genotypes

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_2023_10

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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