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    Pacs1 phosphofurin acidic cluster sorting protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 107975, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pacs1provided by MGI
    Official Full Name
    phosphofurin acidic cluster sorting protein 1provided by MGI
    Primary source
    MGI:MGI:1277113
    See related
    Ensembl:ENSMUSG00000024855 AllianceGenome:MGI:1277113
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable transmembrane transporter binding activity. Involved in lymphocyte homeostasis. Acts upstream of or within protein localization to Golgi apparatus. Located in COPI-coated vesicle. Is expressed in nervous system. Human ortholog(s) of this gene implicated in Schuurs-Hoeijmakers Syndrome. Orthologous to human PACS1 (phosphofurin acidic cluster sorting protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 76.2), ovary adult (RPKM 27.0) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pacs1 in Genome Data Viewer
    Location:
    19 A; 19 4.25 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (5183714..5323138, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (5133685..5273119, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30840 Neighboring gene heterogeneous nuclear ribonucleoprotein F pseudogene Neighboring gene STARR-seq mESC enhancer starr_45376 Neighboring gene splicing factor 3b, subunit 2 Neighboring gene STARR-seq mESC enhancer starr_45378 Neighboring gene galactose-3-O-sulfotransferase 3 Neighboring gene predicted gene, 42064

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. PACS-1 and adaptor protein-1 mediate ACTH trafficking to the regulated secretory pathway. Dirk BS, et al. Biochem Biophys Res Commun, 2018 Dec 9. PMID 30458990
    2. Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy. Villar-Pazos S, et al. Nat Commun, 2023 Oct 17. PMID 37848409, Free PMC Article
    3. Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases. Nair-Gill E, et al. EMBO J, 2021 May 3. PMID 33630350, Free PMC Article
    4. RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice. Villar-Pazos S, et al. Res Sq, 2023 Jan 27. PMID 36747781, Free PMC Article
    5. PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. Wan L, et al. Cell, 1998 Jul 24. PMID 9695949

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases.
      Title: Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases.
    2. the roles of the phosphofurin acidic cluster sorting protein - 1 (PACS-1) and the clathrin adaptor protein 1 (AP-1) in the targeting of Pro-opiomelanocortin to dense core secretory granules.
      Title: PACS-1 and adaptor protein-1 mediate ACTH trafficking to the regulated secretory pathway.
    3. casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
      Title: Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC37046

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in lymphocyte homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in COPI-coated vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphofurin acidic cluster sorting protein 1
    Names
    cytosolic sorting protein PACS-1

    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_001362451.3 → NP_001349380.1  phosphofurin acidic cluster sorting protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC125059
      UniProtKB/TrEMBL
      Q3TP27
      Conserved Domains (1) summary
      pfam10254
      Location:473 → 885
      Pacs-1; PACS-1 cytosolic sorting protein

    2. NM_001403566.1 → NP_001390495.1  phosphofurin acidic cluster sorting protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC125059
      UniProtKB/TrEMBL
      Q3TAB8

    3. NM_001403567.1 → NP_001390496.1  phosphofurin acidic cluster sorting protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC125059
      UniProtKB/TrEMBL
      Q3TAB8

    4. NM_001403568.1 → NP_001390497.1  phosphofurin acidic cluster sorting protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC125059
      UniProtKB/TrEMBL
      Q3TAB8

    5. NM_001403569.1 → NP_001390498.1  phosphofurin acidic cluster sorting protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC125059
      UniProtKB/TrEMBL
      Q3TAB8

    6. NM_001403570.1 → NP_001390499.1  phosphofurin acidic cluster sorting protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC125059
      UniProtKB/TrEMBL
      Q3TAB8

    7. NM_153129.4 → NP_694769.2  phosphofurin acidic cluster sorting protein 1 isoform 1

      See identical proteins and their annotated locations for NP_694769.2

      Status: VALIDATED

      Source sequence(s)
      AC125059
      Consensus CDS
      CCDS29453.1
      UniProtKB/Swiss-Prot
      Q6P5H8, Q8K212
      UniProtKB/TrEMBL
      Q3TAB8
      Related
      ENSMUSP00000025786.8, ENSMUST00000025786.9
      Conserved Domains (1) summary
      pfam10254
      Location:546 → 958
      Pacs-1; PACS-1 cytosolic sorting protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      5183714..5323138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K212.2 GenPept UniProtKB/Swiss-Prot:Q8K212

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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