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Pacsin1 Gene Detail
Summary
  • Symbol
    Pacsin1
  • Name
    protein kinase C and casein kinase substrate in neurons 1
  • Synonyms
    A830061D09Rik, mKIAA1379, Syndapin I
  • Feature Type
    protein coding gene
  • IDs
    MGI:1345181
    NCBI Gene: 23969
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:27874565-27930092 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 14.59 cM, cytoband B1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    608 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1345181
 protein coding gene Chr17:27874483-27930456 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023425
 protein coding gene Chr17:26977952-27036839 (+)
A/J MGP_AJ_G0023383
 protein coding gene Chr17:26121151-26175977 (+)
AKR/J MGP_AKRJ_G0023348
 protein coding gene Chr17:26283783-26344530 (+)
BALB/cJ MGP_BALBcJ_G0023388
 protein coding gene Chr17:26393583-26447355 (+)
C3H/HeJ MGP_C3HHeJ_G0023149
 protein coding gene Chr17:26658532-26718485 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023830
 protein coding gene Chr17:28091072-28161355 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021305
 protein coding gene Chr17:23535634-23556654 (+)
CAST/EiJ MGP_CASTEiJ_G0022650
 protein coding gene Chr17:26653997-26684085 (+)
CBA/J MGP_CBAJ_G0023123
 protein coding gene Chr17:29062537-29141711 (+)
DBA/2J MGP_DBA2J_G0023254
 protein coding gene Chr17:25682003-25737552 (+)
FVB/NJ MGP_FVBNJ_G0023224
 protein coding gene Chr17:25468086-25527554 (+)
LP/J MGP_LPJ_G0023332
 protein coding gene Chr17:27246463-27302956 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023242
 protein coding gene Chr17:28552532-28620197 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023872
 protein coding gene Chr17:26701358-26758193 (+)
PWK/PhJ MGP_PWKPhJ_G0022400
 protein coding gene Chr17:24473908-24533482 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022218
 protein coding gene Chr17:24699945-24763526 (+)
WSB/EiJ MGP_WSBEiJ_G0022712
 protein coding gene Chr17:26716676-26739914 (+)



Homology
more
  • Human Ortholog
    PACSIN1, protein kinase C and casein kinase substrate in neurons 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PACSIN1, protein kinase C and casein kinase substrate in neurons 1
  • Synonyms
    SDPI
  • Links
    NCBI Gene ID: 29993
    neXtProt AC: NX_Q9BY11
    UniProt: Q9BY11

  • Chr Location
    6p21.31; chr6:34466061-34535229 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 3 alleles in 3 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a gene trapped allele show altered type I interferon responses in plasmacytoid dendritic cells. Homozygotes for a null allele show impaired synaptic vesicle formation, synaptic transmission and neuronal network activity, and develop generalized seizures with tonic-clonic convulsions.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    52
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    851
  • Tissues
    51
  • cDNA Data
    31
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 23969 NCBI Gene Model | MGI Sequence Detail 55528 C57BL/6J ±  kb
    transcript NM_001286743 RefSeq | MGI Sequence Detail 4250 C57BL/6  
    polypeptide Q61644 UniProt | EBI | MGI Sequence Detail 441 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 31

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2444712
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 4
      Gene Ontology 13
      Phenotypes 18
    • Earliest
      J:55204 Plomann M, et al., PACSIN, a brain protein that is upregulated upon differentiation into neuronal cells. Eur J Biochem. 1998 Aug 15;256(1):201-11
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory