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

• Sequence Map
  Chr19:5133688-5273119 bp, - strand
• From Ensembl annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    139432 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 19, 4.25 cM
• Mapping Data
  1 experiment

Homology

• 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
  HGNC:30032

  NCBI Gene ID: 55690

  neXtProt AC: NX_Q6VY07

  UniProt: Q6VY07

  
  
• Chr Location
  11q13.1-q13.2; chr11:66070276-66244747 (+)  GRCh38.p7

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• HomoloGene
  Vertebrate Homology Class 9970
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: PACS1
• Gene Tree
  Pacs1
  

Human Diseases

• Diseases
  1 with human PACS1 associations

				Human Disease	Mouse Models
				autosomal dominant non-syndromic intellectual disability IDs autosomal dominant non-syndromic intellectual disability       DOID:0060307 OMIM:156200 OMIM:612337 OMIM:612580 OMIM:612581 OMIM:612621 OMIM:613443 OMIM:613970 OMIM:614104 OMIM:614113 OMIM:614254 OMIM:614255 OMIM:614256 OMIM:614257 OMIM:614563 OMIM:614607 OMIM:614608 OMIM:614609 OMIM:615009 OMIM:615074 OMIM:615075 OMIM:615502 OMIM:615761 OMIM:615828 OMIM:615873 ORDO:178469

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  4 phenotype references
  

• All Mutations and Alleles
  20
• Gene trapped
  19
• Targeted
  1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  27 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  10
• GO References
  5

• External Resources
  FuncBase

Expression

• Assay Results
  70
• Tissues
  8
• cDNA Data
  102
• Literature Summary
  2

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  ZFIN pacs1a

Interactions

• Pacs1 interacts with 190 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

Sequences &
Gene Models

• All Sequences
  26
• RefSeq
  2
• UniProt
  3
• CCDS
  CCDS29453.1
• UniGene
  234923

• Ensembl
  ENSMUSG00000024855 (Evidence)
• NCBI Gene
  107975

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000024855	Ensembl Gene Model | MGI Sequence Detail	139432	C57BL/6J
transcript	ENSMUST00000025786	Ensembl | MGI Sequence Detail	4339	Not Applicable
polypeptide	ENSMUSP00000025786	Ensembl | MGI Sequence Detail	961	Not Applicable

Polymorphisms

• SNPs within 2kb
  586 from dbSNP Build 142

Protein
Information

• UniProt
  3 Sequences
• Protein Ontology
  PR:000012215 phosphofurin acidic cluster sorting protein 1
  (term hierarchy)
• InterPro Domains
  IPR019381 Phosphofurin acidic cluster sorting protein 1

Molecular
Reagents

• All nucleic 102

  cDNA 102

  
  

  Microarray probesets 3

Other
Accession IDs

MGI:2147510

References

• 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