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    Ascc1 activating signal cointegrator 1 complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 69090, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Ascc1provided by MGI
    Official Full Name
    activating signal cointegrator 1 complex subunit 1provided by MGI
    Primary source
    MGI:MGI:1916340
    See related
    Ensembl:ENSMUSG00000044475 AllianceGenome:MGI:1916340
    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
    CGI-18; ASC1p50; 1810015P09Rik
    Summary
    Predicted to enable transcription coactivator activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within DNA repair. Predicted to be located in neuromuscular junction. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; bladder; brown fat; nervous system; and nose. Human ortholog(s) of this gene implicated in Barrett's esophagus. Orthologous to human ASCC1 (activating signal cointegrator 1 complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 16.8), kidney adult (RPKM 16.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ascc1 in Genome Data Viewer
    Location:
    10 B4; 10 29.67 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (59838414..59935812)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (60002592..60099990)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40673 Neighboring gene STARR-seq mESC enhancer starr_26789 Neighboring gene STARR-seq mESC enhancer starr_26790 Neighboring gene STARR-seq mESC enhancer starr_26791 Neighboring gene STARR-seq mESC enhancer starr_26792 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:59432972-59433155 Neighboring gene DNA-damage-inducible transcript 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:59436913-59437130 Neighboring gene STARR-positive B cell enhancer mm9_chr10:59460432-59460732 Neighboring gene anaphase promoting complex subunit 16 Neighboring gene STARR-positive B cell enhancer ABC_E2937 Neighboring gene predicted gene, 51801 Neighboring gene sparc/osteonectin, cwcv and kazal-like domains proteoglycan 2 Neighboring gene microRNA 6906

    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. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Knierim E, et al. Am J Hum Genet, 2016 Mar 3. PMID 26924529, Free PMC Article
    2. Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development. Yoo HM, et al. Mol Cell, 2014 Oct 23. PMID 25219498
    3. A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. McKee AE, et al. BMC Dev Biol, 2005 Jul 20. PMID 16033648, Free PMC Article
    4. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article
    5. An Interaction Landscape of Ubiquitin Signaling. Zhang X, et al. Mol Cell, 2017 Mar 2. PMID 28190767

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that cosegregated with the Prenatal Spinal Muscular Atrophy and Congenital Bone Fracture phenotype
      Title: Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    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 RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA alkylation repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of DNA repair complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuromuscular junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of transcription regulator complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    activating signal cointegrator 1 complex subunit 1
    Names
    ASC-1 complex subunit p50
    trip4 complex subunit p50

    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_001199187.2 → NP_001186116.1  activating signal cointegrator 1 complex subunit 1

      See identical proteins and their annotated locations for NP_001186116.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK139944, AW457357
      Consensus CDS
      CCDS23870.1
      UniProtKB/Swiss-Prot
      Q3TAC2, Q9D8Z1
      Related
      ENSMUSP00000126301.3, ENSMUST00000164083.4
      Conserved Domains (2) summary
      pfam10469
      Location:132 → 355
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
      cd22419
      Location:58 → 123
      KH-I_ASCC1; type I K homology (KH) RNA-binding domain found in activating signal cointegrator 1 complex subunit 1 (ASCC1) and similar proteins

    2. NM_026937.3 → NP_081213.1  activating signal cointegrator 1 complex subunit 1

      See identical proteins and their annotated locations for NP_081213.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK053811, AW457357, BC030905
      Consensus CDS
      CCDS23870.1
      UniProtKB/Swiss-Prot
      Q3TAC2, Q9D8Z1
      Related
      ENSMUSP00000052351.7, ENSMUST00000050516.14
      Conserved Domains (2) summary
      pfam10469
      Location:132 → 355
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
      cd22419
      Location:58 → 123
      KH-I_ASCC1; type I K homology (KH) RNA-binding domain found in activating signal cointegrator 1 complex subunit 1 (ASCC1) and similar proteins

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      59838414..59935812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314075.3 → XP_017169564.1  activating signal cointegrator 1 complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q3UMX8
      Conserved Domains (2) summary
      cd02394
      Location:91 → 149
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      cl26521
      Location:162 → 190
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    2. XM_017314074.2 → XP_017169563.1  activating signal cointegrator 1 complex subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q3UMX8
      Conserved Domains (2) summary
      cd02394
      Location:91 → 149
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      cl26521
      Location:162 → 195
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    3. XM_006514039.4 → XP_006514102.1  activating signal cointegrator 1 complex subunit 1 isoform X1

      Conserved Domains (2) summary
      cd02394
      Location:91 → 149
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      pfam10469
      Location:162 → 385
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    4. XM_006514041.5 → XP_006514104.1  activating signal cointegrator 1 complex subunit 1 isoform X3

      See identical proteins and their annotated locations for XP_006514104.1

      Conserved Domains (1) summary
      pfam10469
      Location:88 → 311
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    5. XM_030245250.1 → XP_030101110.1  activating signal cointegrator 1 complex subunit 1 isoform X2

      UniProtKB/Swiss-Prot
      Q3TAC2, Q9D8Z1
      Conserved Domains (2) summary
      pfam10469
      Location:132 → 355
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
      cd22419
      Location:58 → 123
      KH-I_ASCC1; type I K homology (KH) RNA-binding domain found in activating signal cointegrator 1 complex subunit 1 (ASCC1) and similar proteins

    6. XM_006514042.4 → XP_006514105.1  activating signal cointegrator 1 complex subunit 1 isoform X3

      See identical proteins and their annotated locations for XP_006514105.1

      Conserved Domains (1) summary
      pfam10469
      Location:88 → 311
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

    7. XM_006514040.4 → XP_006514103.1  activating signal cointegrator 1 complex subunit 1 isoform X2

      See identical proteins and their annotated locations for XP_006514103.1

      UniProtKB/Swiss-Prot
      Q3TAC2, Q9D8Z1
      Conserved Domains (2) summary
      pfam10469
      Location:132 → 355
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
      cd22419
      Location:58 → 123
      KH-I_ASCC1; type I K homology (KH) RNA-binding domain found in activating signal cointegrator 1 complex subunit 1 (ASCC1) and similar proteins

    8. XM_036155979.1 → XP_036011872.1  activating signal cointegrator 1 complex subunit 1 isoform X2

      UniProtKB/Swiss-Prot
      Q3TAC2, Q9D8Z1
      Conserved Domains (2) summary
      pfam10469
      Location:132 → 355
      AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
      cd22419
      Location:58 → 123
      KH-I_ASCC1; type I K homology (KH) RNA-binding domain found in activating signal cointegrator 1 complex subunit 1 (ASCC1) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D8Z1.1 GenPept UniProtKB/Swiss-Prot:Q9D8Z1

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