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    Arl2bp ADP-ribosylation factor-like 2 binding protein [ Mus musculus (house mouse) ]

    Gene ID: 107566, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Arl2bpprovided by MGI
    Official Full Name
    ADP-ribosylation factor-like 2 binding proteinprovided by MGI
    Primary source
    MGI:MGI:1349429
    See related
    Ensembl:ENSMUSG00000031776 AllianceGenome:MGI:1349429
    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
    BART; Bart1; 1700010P10Rik; 1700027H16Rik; 6330544B05Rik
    Summary
    Predicted to enable GTPase regulator activity and transcription coactivator activity. Predicted to be involved in maintenance of protein location in nucleus and positive regulation of tyrosine phosphorylation of STAT protein. Predicted to be located in several cellular components, including centrosome; midbody; and nucleoplasm. Predicted to be active in mitochondrial intermembrane space. Is expressed in genitourinary system. Used to study male infertility and retinitis pigmentosa with or without situs inversus. Human ortholog(s) of this gene implicated in retinitis pigmentosa with or without situs inversus. Orthologous to human ARL2BP (ADP ribosylation factor like GTPase 2 binding protein). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 119.3), CNS E11.5 (RPKM 53.4) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arl2bp in Genome Data Viewer
    Location:
    8 C5; 8 46.65 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (95393228..95401085)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (94666600..94674457)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene proteasome activator subunit 3 interacting protein 1 Neighboring gene STARR-positive B cell enhancer mm9_chr8:97125541-97125842 Neighboring gene predicted gene, 57522 Neighboring gene ring finger and SPRY domain containing 1 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8257 Neighboring gene plasma membrane proteolipid Neighboring gene predicted gene, 53412 Neighboring gene nuclear encoded tRNA leucine 5 (anticodon CAG)

    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. ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure. Moye AR, et al. Mol Biol Cell, 2018 Jul 1. PMID 29718757, Free PMC Article
    2. Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. Moye AR, et al. PLoS Genet, 2019 Aug. PMID 31425546, Free PMC Article
    3. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Davidson AE, et al. Am J Hum Genet, 2013 Aug 8. PMID 23849777, Free PMC Article
    4. The ARF-like 2 (ARL2)-binding protein, BART. Purification, cloning, and initial characterization. Sharer JD, et al. J Biol Chem, 1999 Sep 24. PMID 10488091
    5. ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter. Sharer JD, et al. Mol Biol Cell, 2002 Jan. PMID 11809823, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study identified multiple ciliopathy phenotypes associated with mutations in ARL2BP in human patients and in a mouse knockout model. Spermiogenesis is impaired, resulting in abnormally shaped heads, shortened and mis-assembled sperm tails, and loss of axonemal doublets. ARL2BP is required for the structural maintenance of cilia as well as of the sperm flagellum, and that its deficiency leads to syndromic ciliopathy.
      Title: Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
    2. ARL2BP is necessary for photoreceptor ciliary doublet formation and axoneme elongation.
      Title: ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure.
    3. BART is essential for the transcriptional activity and nuclear retention of STAT3
      Title: BART is essential for nuclear retention of STAT3.
    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables GTPase regulator activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in maintenance of protein location in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in maintenance of protein location in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of tyrosine phosphorylation of STAT protein ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of tyrosine phosphorylation of STAT protein ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ADP-ribosylation factor-like protein 2-binding protein
    Names
    ADP-ribosylation-like 2 binding protein
    ARF-like 2-binding protein
    binder of ARF2 protein 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_024191.2 → NP_077153.1  ADP-ribosylation factor-like protein 2-binding protein isoform 1

      See identical proteins and their annotated locations for NP_077153.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC123826, AK018229, BY159929
      Consensus CDS
      CCDS22545.1
      UniProtKB/Swiss-Prot
      Q9CQW6, Q9D385
      Related
      ENSMUSP00000034228.9, ENSMUST00000034228.16
      Conserved Domains (1) summary
      pfam11527
      Location:22 → 132
      ARL2_Bind_BART; The ARF-like 2 binding protein BART

    2. NM_024269.4 → NP_077231.1  ADP-ribosylation factor-like protein 2-binding protein isoform 2

      See identical proteins and their annotated locations for NP_077231.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC123826, AK006418
      Consensus CDS
      CCDS40440.1
      UniProtKB/Swiss-Prot
      Q9D385
      Related
      ENSMUSP00000105153.5, ENSMUST00000109527.6
      Conserved Domains (1) summary
      pfam11527
      Location:16 → 120
      ARL2_Bind_BART; The ARF-like 2 binding protein BART

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      95393228..95401085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D385.1 GenPept UniProtKB/Swiss-Prot:Q9D385

    Gene LinkOut

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

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