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

Gene ID: 217893, updated on 2-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 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

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