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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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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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