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    Pacs2 phosphofurin acidic cluster sorting protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 217893, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Pacs2provided by MGI
    Official Full Name
    phosphofurin acidic cluster sorting protein 2provided by MGI
    Primary source
    MGI:MGI:1924399
    See related
    Ensembl:ENSMUSG00000021143 AllianceGenome:MGI:1924399
    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
    Also known as
    Pacs1l; mKIAA0602; E230011J22; 6720425G15Rik
    Summary
    Predicted to enable transmembrane transporter binding activity. Predicted to be involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Predicted to act upstream of or within protein localization to phagophore assembly site. Predicted to be located in endoplasmic reticulum and mitochondrion. Is expressed in several structures, including diaphragm; limb segment; nervous system; sensory organ; and skeletal musculature. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 66. Orthologous to human PACS2 (phosphofurin acidic cluster sorting protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 55.1), cerebellum adult (RPKM 32.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pacs2 in Genome Data Viewer
    Location:
    12 F1; 12 61.57 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (112977998..113038021)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (113014454..113074401)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit Neighboring gene BTB domain containing 6 Neighboring gene RIKEN cDNA 9230104M06 gene Neighboring gene STARR-positive B cell enhancer ABC_E1866 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:114285178-114285287 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:114285299-114285486 Neighboring gene testis expressed gene 22 Neighboring gene metastasis associated 1

    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-2 deficiency aggravates tubular injury in diabetic kidney disease by inhibiting ER-phagy. Yang J, et al. Cell Death Dis, 2023 Oct 4. PMID 37794057, Free PMC Article
    2. Mitochondria-associated membrane protein PACS2 maintains right cardiac function in hypobaric hypoxia. Yang J, et al. iScience, 2023 Apr 21. PMID 36968068, Free PMC Article
    3. PACS-2 Ameliorates Tubular Injury by Facilitating Endoplasmic Reticulum-Mitochondria Contact and Mitophagy in Diabetic Nephropathy. Li C, et al. Diabetes, 2022 May 1. PMID 35133431
    4. The multifunctional sorting protein PACS-2 regulates SIRT1-mediated deacetylation of p53 to modulate p21-dependent cell-cycle arrest. Atkins KM, et al. Cell Rep, 2014 Sep 11. PMID 25159152, Free PMC Article
    5. PACS-2 mediates the ATM and NF-κB-dependent induction of anti-apoptotic Bcl-xL in response to DNA damage. Barroso-González J, et al. Cell Death Differ, 2016 Sep 1. PMID 26943323, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism.
      Title: MAPK1 Mediates MAM Disruption and Mitochondrial Dysfunction in Diabetic Kidney Disease via the PACS-2-Dependent Mechanism.
    2. PACS-2 deficiency aggravates tubular injury in diabetic kidney disease by inhibiting ER-phagy.
      Title: PACS-2 deficiency aggravates tubular injury in diabetic kidney disease by inhibiting ER-phagy.
    3. Insulin acutely regulates SIRT1 activity by triggering recruitment of PACS-2 and DBC1 to the SIRT1 N terminal region creating a regulatory hub.
      Title: An Insulin-Responsive Sensor in the SIRT1 Disordered Region Binds DBC1 and PACS-2 to Control Enzyme Activity.
    4. PACS-2 coordinates p53/p21- dependent cell cycle arrest with NF-kappaB/Bcl-xL-dependent pro-survival signaling to support DNA repair in response to genotoxic damage.
      Title: PACS-2 mediates the ATM and NF-κB-dependent induction of anti-apoptotic Bcl-xL in response to DNA damage.
    5. CS-2 traffics to the nucleus where it regulates SIRT1-mediated p53 deacetylation. PACS-2 binds SIRT1 in vitro and directly inhibits SIRT1-catalyzed p53 deacetylation.
      Title: The multifunctional sorting protein PACS-2 regulates SIRT1-mediated deacetylation of p53 to modulate p21-dependent cell-cycle arrest.
    6. Results identify PACS-2 as an essential TRAIL effector, and show that Akt cooperates with 14-3-3 to regulate the homeostatic and apoptotic properties of PACS-2 that mediate TRAIL action.
      Title: Akt and 14-3-3 control a PACS-2 homeostatic switch that integrates membrane traffic with TRAIL-induced apoptosis.
    7. PACS-2 is required for Nef action and sorting of itinerant membrane cargo in the TGN/endosomal system
      Title: HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down-regulation: analysis using short interfering RNA and knock-out mice.
    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrion-endoplasmic reticulum membrane tethering ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein localization to phagophore assembly site ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    phosphofurin acidic cluster sorting protein 2
    Names
    PACS1-like protein

    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_001081170.1 → NP_001074639.1  phosphofurin acidic cluster sorting protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC073562
      Consensus CDS
      CCDS36573.1
      UniProtKB/TrEMBL
      E9Q7E9
      Related
      ENSMUSP00000081953.5, ENSMUST00000084891.5
      Conserved Domains (1) summary
      pfam10254
      Location:474 → 888
      Pacs-1; PACS-1 cytosolic sorting protein

    2. NM_001291444.1 → NP_001278373.1  phosphofurin acidic cluster sorting protein 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC073562
      Consensus CDS
      CCDS88411.1
      UniProtKB/TrEMBL
      A0A1Y7VLZ7
      Related
      ENSMUSP00000152439.2, ENSMUST00000223502.2
      Conserved Domains (1) summary
      pfam10254
      Location:476 → 890
      Pacs-1; PACS-1 cytosolic sorting protein

    3. NM_001291445.1 → NP_001278374.1  phosphofurin acidic cluster sorting protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001278374.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC073562
      Consensus CDS
      CCDS88412.1
      UniProtKB/Swiss-Prot
      E9QKL3, Q3V3Q7, Q80TW2, Q80VG3
      Related
      ENSMUSP00000152145.2, ENSMUST00000220541.2
      Conserved Domains (1) summary
      pfam10254
      Location:444 → 858
      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_000078.7 Reference GRCm39 C57BL/6J

      Range
      112977998..113038021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157368.1 → XP_036013261.1  phosphofurin acidic cluster sorting protein 2 isoform X3

      Conserved Domains (1) summary
      pfam10254
      Location:476 → 866
      Pacs-1; PACS-1 cytosolic sorting protein

    2. XM_006515769.4 → XP_006515832.1  phosphofurin acidic cluster sorting protein 2 isoform X1

      Conserved Domains (1) summary
      pfam10254
      Location:476 → 912
      Pacs-1; PACS-1 cytosolic sorting protein

    3. XM_006515773.4 → XP_006515836.1  phosphofurin acidic cluster sorting protein 2 isoform X7

      Conserved Domains (1) summary
      pfam10254
      Location:476 → 901
      Pacs-1; PACS-1 cytosolic sorting protein

    4. XM_006515772.4 → XP_006515835.1  phosphofurin acidic cluster sorting protein 2 isoform X6

      Conserved Domains (1) summary
      pfam10254
      Location:476 → 901
      Pacs-1; PACS-1 cytosolic sorting protein

    5. XM_006515770.4 → XP_006515833.1  phosphofurin acidic cluster sorting protein 2 isoform X2

      Conserved Domains (1) summary
      pfam10254
      Location:474 → 910
      Pacs-1; PACS-1 cytosolic sorting protein

    6. XM_030246678.2 → XP_030102538.1  phosphofurin acidic cluster sorting protein 2 isoform X9

      Conserved Domains (1) summary
      pfam10254
      Location:474 → 899
      Pacs-1; PACS-1 cytosolic sorting protein

    7. XM_006515774.4 → XP_006515837.1  phosphofurin acidic cluster sorting protein 2 isoform X8

      Conserved Domains (1) summary
      pfam10254
      Location:474 → 899
      Pacs-1; PACS-1 cytosolic sorting protein

    8. XM_006515771.3 → XP_006515834.1  phosphofurin acidic cluster sorting protein 2 isoform X4

      Conserved Domains (1) summary
      pfam10254
      Location:468 → 904
      Pacs-1; PACS-1 cytosolic sorting protein

    9. XM_030246677.2 → XP_030102537.1  phosphofurin acidic cluster sorting protein 2 isoform X5

      Conserved Domains (1) summary
      pfam10254
      Location:466 → 902
      Pacs-1; PACS-1 cytosolic sorting protein

    10. XM_030246679.2 → XP_030102539.1  phosphofurin acidic cluster sorting protein 2 isoform X10

      Conserved Domains (1) summary
      pfam10254
      Location:466 → 891
      Pacs-1; PACS-1 cytosolic sorting protein

    11. XM_006515777.3 → XP_006515840.1  phosphofurin acidic cluster sorting protein 2 isoform X11

      Conserved Domains (1) summary
      pfam10254
      Location:466 → 880
      Pacs-1; PACS-1 cytosolic sorting protein

    12. XM_006515779.4 → XP_006515842.1  phosphofurin acidic cluster sorting protein 2 isoform X15

      Conserved Domains (1) summary
      pfam10254
      Location:476 → 507
      Pacs-1; PACS-1 cytosolic sorting protein

    13. XM_006515778.2 → XP_006515841.1  phosphofurin acidic cluster sorting protein 2 isoform X12

      Conserved Domains (1) summary
      pfam10254
      Location:409 → 845
      Pacs-1; PACS-1 cytosolic sorting protein

    14. XM_036157370.1 → XP_036013263.1  phosphofurin acidic cluster sorting protein 2 isoform X14

      Conserved Domains (1) summary
      pfam10254
      Location:407 → 821
      Pacs-1; PACS-1 cytosolic sorting protein

    15. XM_030246681.2 → XP_030102541.1  phosphofurin acidic cluster sorting protein 2 isoform X12

      Conserved Domains (1) summary
      pfam10254
      Location:409 → 845
      Pacs-1; PACS-1 cytosolic sorting protein

    16. XM_030246680.2 → XP_030102540.1  phosphofurin acidic cluster sorting protein 2 isoform X13

      Conserved Domains (1) summary
      pfam10254
      Location:407 → 843
      Pacs-1; PACS-1 cytosolic sorting protein

    RNA

    1. XR_381518.4 RNA Sequence

    2. XR_381519.5 RNA Sequence

    3. XR_004937491.1 RNA Sequence

    4. XR_003950043.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198165.1: Suppressed sequence

      Description
      NM_198165.1: This RefSeq was removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V3Q7.2 GenPept UniProtKB/Swiss-Prot:Q3V3Q7

    Gene LinkOut

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

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