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    Xab2 XPA binding protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 67439, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Xab2provided by MGI
    Official Full Name
    XPA binding protein 2provided by MGI
    Primary source
    MGI:MGI:1914689
    See related
    Ensembl:ENSMUSG00000019470 AllianceGenome:MGI:1914689
    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
    0610041O14Rik
    Summary
    Acts upstream of or within blastocyst development. Predicted to be located in nucleoplasm. Predicted to be part of Prp19 complex; U2-type catalytic step 2 spliceosome; and post-mRNA release spliceosomal complex. Is expressed in central nervous system; embryo mesenchyme; and retina layer. Orthologous to human XAB2 (XPA binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary adult (RPKM 41.3), thymus adult (RPKM 39.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 A1.1; 8 1.92 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (3660089..3671311, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (3610087..3621334, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein S23, retrogene 1 Neighboring gene ribosomal protein S23, pseudogene 2 Neighboring gene calmodulin regulated spectrin-associated protein family, member 3 Neighboring gene STARR-seq mESC enhancer starr_20594 Neighboring gene STARR-positive B cell enhancer ABC_E3766 Neighboring gene PET100 homolog Neighboring gene Purkinje cell protein 2 (L7) Neighboring gene syntaxin binding protein 2

    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. The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing. Goulielmaki E, et al. Nat Commun, 2021 May 26. PMID 34039990, Free PMC Article
    2. Disruption of mouse XAB2 gene involved in pre-mRNA splicing, transcription and transcription-coupled DNA repair results in preimplantation lethality. Yonemasu R, et al. DNA Repair (Amst), 2005 Apr 4. PMID 15725628
    3. Transgenic mice expressing Cre-recombinase specifically in retinal rod bipolar neurons. Zhang XM, et al. Invest Ophthalmol Vis Sci, 2005 Oct. PMID 16186328
    4. Laser capture microdissection and cDNA array analysis for identification of mouse KIAA/FLJ genes differentially expressed in the embryonic dorsal spinal cord. Masuda T, et al. Brain Res, 2009 Jan 16. PMID 19026994
    5. Transcription factor Foxp3 and its protein partners form a complex regulatory network. Rudra D, et al. Nat Immunol, 2012 Oct. PMID 22922362, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing.
      Title: The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing.
    2. XAB2 has an essential function in mouse embryogenesis.
      Title: Disruption of mouse XAB2 gene involved in pre-mRNA splicing, transcription and transcription-coupled DNA repair results in preimplantation lethality.
    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
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within blastocyst development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in generation of catalytic spliceosome for first transesterification step IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Prp19 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U2-type catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of catalytic step 2 spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pre-mRNA-splicing factor SYF1

    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_026156.2 → NP_080432.1  pre-mRNA-splicing factor SYF1

      See identical proteins and their annotated locations for NP_080432.1

      Status: VALIDATED

      Source sequence(s)
      AK002890
      Consensus CDS
      CCDS22065.1
      UniProtKB/Swiss-Prot
      Q8VDT5, Q9CVD8, Q9DCD2
      UniProtKB/TrEMBL
      Q3UKP5
      Related
      ENSMUSP00000019614.7, ENSMUST00000019614.13
      Conserved Domains (3) summary
      TIGR02521
      Location:486 → 618
      type_IV_pilW; type IV pilus biogenesis/stability protein PilW
      COG0457
      Location:272 → 549
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:389 → 424
      TPR; TPR repeat [structural motif]

    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
      3660089..3671311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243737.2 → XP_030099597.1  pre-mRNA-splicing factor SYF1 isoform X2

      UniProtKB/TrEMBL
      Q3UKP5
      Conserved Domains (2) summary
      COG0457
      Location:167 → 444
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:284 → 319
      TPR; TPR repeat [structural motif]

    2. XM_036154251.1 → XP_036010144.1  pre-mRNA-splicing factor SYF1 isoform X3

      Related
      ENSMUST00000159909.8
      Conserved Domains (1) summary
      sd00006
      Location:32 → 60
      TPR; TPR repeat [structural motif]

    3. XM_006508864.2 → XP_006508927.1  pre-mRNA-splicing factor SYF1 isoform X1

      UniProtKB/TrEMBL
      Q3UKP5
      Conserved Domains (4) summary
      TIGR02521
      Location:446 → 578
      type_IV_pilW; type IV pilus biogenesis/stability protein PilW
      COG0457
      Location:232 → 509
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:349 → 384
      TPR; TPR repeat [structural motif]
      pfam07719
      Location:217 → 244
      TPR_2; Tetratricopeptide repeat
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DCD2.1 GenPept UniProtKB/Swiss-Prot:Q9DCD2

    Gene LinkOut

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

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