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    Arfrp1 ARF related protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 76688, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Arfrp1provided by MGI
    Official Full Name
    ARF related protein 1provided by MGI
    Primary source
    MGI:MGI:1923938
    See related
    Ensembl:ENSMUSG00000038671 AllianceGenome:MGI:1923938
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1500006I01Rik
    Summary
    The gene encodes a membrane-associated GTPase that is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) genes. It plays an essential role in Golgi function controlling recruitment of GRIP domain proteins and ARL1 to the trans-Golgi and trans-Golgi to plasma membrane trafficking of cell surface proteins such as E-cadherin. Deletion of this gene in mice leads to embryonic lethality during early gastrulation, which is at least partly caused by the disruption of E-cadherin trafficking to the cell surface and therefore lack of sufficient cell-cell adhesion in the embryo. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 16.3), CNS E18 (RPKM 14.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arfrp1 in Genome Data Viewer
    Location:
    2 H4; 2 103.63 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (180999483..181007197, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (181357690..181365404, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10172 Neighboring gene STARR-seq mESC enhancer starr_06749 Neighboring gene stathmin-like 3 Neighboring gene STARR-seq mESC enhancer starr_06750 Neighboring gene STARR-seq mESC enhancer starr_06751 Neighboring gene regulator of telomere elongation helicase 1 Neighboring gene STARR-positive B cell enhancer ABC_E4532 Neighboring gene STARR-positive B cell enhancer ABC_E11178 Neighboring gene zinc finger, CCCH-type with G patch domain Neighboring gene zinc finger and BTB domain containing 46 Neighboring gene Slc2a4 regulator, pseudogene Neighboring gene Lck interacting transmembrane adaptor 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. Distinct changes in endosomal composition promote NLRP3 inflammasome activation. Zhang Z, et al. Nat Immunol, 2023 Jan. PMID 36443515, Free PMC Article
    2. Distribution of ADP-ribosylation factor-related protein 1 in mouse brain. Paratore S, et al. Arch Ital Biol, 2008 Mar. PMID 18666447
    3. The ARF-like GTPase ARFRP1 is essential for lipid droplet growth and is involved in the regulation of lipolysis. Hommel A, et al. Mol Cell Biol, 2010 Mar. PMID 20038528, Free PMC Article
    4. Embryonic lethality caused by apoptosis during gastrulation in mice lacking the gene of the ADP-ribosylation factor-related protein 1. Mueller AG, et al. Mol Cell Biol, 2002 Mar. PMID 11839814, Free PMC Article
    5. Hepatic trans-Golgi action coordinated by the GTPase ARFRP1 is crucial for lipoprotein lipidation and assembly. Hesse D, et al. J Lipid Res, 2014 Jan. PMID 24186947, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic beta-cells.
      Title: The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic β-cells.
    2. ARFRP1 and the Golgi apparatus play an important role in lipoprotein maturation in the liver.
      Title: Hepatic trans-Golgi action coordinated by the GTPase ARFRP1 is crucial for lipoprotein lipidation and assembly.
    3. The GTPase ARFRP1 controls the lipidation of chylomicrons in the Golgi of the intestinal epithelium.
      Title: The GTPase ARFRP1 controls the lipidation of chylomicrons in the Golgi of the intestinal epithelium.
    4. data indicate that ARFRP1 in the liver is involved in the regulation of IGF1 secretion and GLUT2 sorting and is thereby essential for normal growth and glycogen storage
      Title: GTPase ARFRP1 is essential for normal hepatic glycogen storage and insulin-like growth factor 1 secretion.
    5. Arfrp1 appears to be involved in sorting of GLUT4.
      Title: Altered GLUT4 trafficking in adipocytes in the absence of the GTPase Arfrp1.
    6. Lipid droplets of adipocytes of Arfrp1(-/-) mice were smaller and exhibited ultrastructural alterations, such as a disturbed interaction of small lipid particles with larger droplets.
      Title: The ARF-like GTPase ARFRP1 is essential for lipid droplet growth and is involved in the regulation of lipolysis.
    7. ADP-ribosylation factor-like GTPase ARFRP1 is required for trans-Golgi to plasma membrane trafficking of E-cadherin.
      Title: ADP-ribosylation factor-like GTPase ARFRP1 is required for trans-Golgi to plasma membrane trafficking of E-cadherin.
    8. This study provides the first detailed analysis of the regional distribution of ARFRP1 in the mouse brain and a quantitative view of its changes following sleep deprivation.
      Title: Distribution of ADP-ribosylation factor-related protein 1 in mouse brain.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC6837

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi to plasma membrane protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi to plasma membrane protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Golgi to plasma membrane protein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor-related protein 1
    Names
    ADP-ribosylation factor related protein 1
    NP_001159463.1
    NP_001159464.1
    NP_001159467.1
    NP_083978.3

    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_001165991.1 → NP_001159463.1  ADP-ribosylation factor-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001159463.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AK005174, AL928965, BB770913, BC046786
      Consensus CDS
      CCDS17209.1
      UniProtKB/Swiss-Prot
      Q8BXL7
      Related
      ENSMUSP00000104436.2, ENSMUST00000108808.8
      Conserved Domains (1) summary
      cd04160
      Location:19 → 186
      Arfrp1; Arf-related protein 1 (Arfrp1)

    2. NM_001165992.1 → NP_001159464.1  ADP-ribosylation factor-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001159464.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AL928965
      Consensus CDS
      CCDS17209.1
      UniProtKB/Swiss-Prot
      Q8BXL7
      Conserved Domains (1) summary
      cd04160
      Location:19 → 186
      Arfrp1; Arf-related protein 1 (Arfrp1)

    3. NM_001165995.1 → NP_001159467.1  ADP-ribosylation factor-related protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001159467.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' region that results in a distinct 5' UTR and causes translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL928965
      Consensus CDS
      CCDS50853.1
      UniProtKB/TrEMBL
      E9PZK7
      Related
      ENSMUSP00000126387.2, ENSMUST00000170190.8
      Conserved Domains (1) summary
      cd04160
      Location:1 → 139
      Arfrp1; Arf-related protein 1 (Arfrp1)

    4. NM_029702.4 → NP_083978.3  ADP-ribosylation factor-related protein 1 isoform 1

      See identical proteins and their annotated locations for NP_083978.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
      Source sequence(s)
      AK005174, AL928965, BB770913, BC046786, CA539216
      Consensus CDS
      CCDS17209.1
      UniProtKB/Swiss-Prot
      Q8BXL7
      Related
      ENSMUSP00000122066.2, ENSMUST00000127988.8
      Conserved Domains (1) summary
      cd04160
      Location:19 → 186
      Arfrp1; Arf-related protein 1 (Arfrp1)

    RNA

    1. NR_028585.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL928965, BB770913, BC046786, CA539216
      Related
      ENSMUST00000185118.8

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      180999483..181007197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_003953743.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BXL7.2 GenPept UniProtKB/Swiss-Prot:Q8BXL7

    Gene LinkOut

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

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