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

Gene ID: 107566, updated on 5-Mar-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 centrosome; cytoplasm; and midbody. Predicted to be active in mitochondrial intermembrane space. Is expressed in urinary 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, Apr 2022]
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 (23) 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
  
Process Evidence Code Pubs
involved_in maintenance of protein location in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in maintenance of protein location in nucleus ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of tyrosine phosphorylation of STAT protein IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of tyrosine phosphorylation of STAT protein ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cell projection 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 cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
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

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