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Pacs1 Gene Detail
Summary
  • Symbol
    Pacs1
  • Name
    phosphofurin acidic cluster sorting protein 1
  • Synonyms
    MGC:37046
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277113
    NCBI Gene: 107975
  • Gene Overview
    MyGene.info: PACS1
Location & Maps
more
  • Sequence Map
    Chr19:5133688-5273119 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      139432 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 4.25 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    PACS1, phosphofurin acidic cluster sorting protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PACS1, phosphofurin acidic cluster sorting protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRD17, SHMS
  • Links
    NCBI Gene ID: 55690
    neXtProt AC: NX_Q6VY07

  • Chr Location
    11q13.1-q13.2; chr11:66070353-66244747 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9970
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: PACS1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PACS1 associations

Human Disease Mouse Models
       Schuurs-Hoeijmakers Syndrome; SHMS   OMIM: 615009
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotype references
  • All Mutations and Alleles
    20
  • Gene trapped
    19
  • Targeted
    1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024855 Ensembl Gene Model | MGI Sequence Detail 139432 C57BL/6J ±  kb
transcript ENSMUST00000025786 Ensembl | MGI Sequence Detail 4339 Not Applicable  
polypeptide ENSMUSP00000025786 Ensembl | MGI Sequence Detail 961 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    586 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000012215 phosphofurin acidic cluster sorting protein 1
  • InterPro Domains
    IPR019381 Phosphofurin acidic cluster sorting protein 1
Molecular
Reagents
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  • All nucleic 102
    cDNA 102

    Microarray probesets 3
Other
Accession IDs
less
MGI:2147510
References
more
  • Summaries
    All 30
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 4
  • Earliest
    J:48829 Wan L, et al., PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. Cell. 1998 Jul 24;94(2):205-16
  • Latest
    J:205418 Burgert T, et al., SORLA-dependent and -independent functions for PACS1 in control of amyloidogenic processes. Mol Cell Biol. 2013 Nov;33(21):4308-20

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory