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ASCC1 activating signal cointegrator 1 complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 51008, updated on 2-Oct-2018

Summary

Official Symbol
ASCC1provided by HGNC
Official Full Name
activating signal cointegrator 1 complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:24268
See related
Ensembl:ENSG00000138303 MIM:614215; Vega:OTTHUMG00000018434
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p50; CGI-18; SMABF2; ASC1p50
Summary
This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See ASCC1 in Genome Data Viewer
Location:
10q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (72096032..72218777, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (73855790..73976892, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene carbohydrate sulfotransferase 3 Neighboring gene SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 Neighboring gene ribosomal protein L15 pseudogene 14 Neighboring gene anaphase promoting complex subunit 16 Neighboring gene DNA damage inducible transcript 4 Neighboring gene Sharpr-MPRA regulatory region 14427

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • ALKBH3 mediated reversal of alkylation damage, organism-specific biosystem (from REACTOME)
    ALKBH3 mediated reversal of alkylation damage, organism-specific biosystemALKBH3, like ALKBH2, is a homolog of E.coli alpha-ketoglutarate- and Fe(II)-dependent dioxygenase AlkB that oxidizes methyl groups on alkylated DNA bases and releases them as formaldehyde. Like ALKBH...
  • DNA Damage Reversal, organism-specific biosystem (from REACTOME)
    DNA Damage Reversal, organism-specific biosystemDNA damage can be directly reversed by dealkylation (Mitra and Kaina 1993). Three enzymes play a major role in reparative DNA dealkylation: MGMT, ALKBH2 and ALKBH3. MGMT dealkylates O-6-methylguanine...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Reversal of alkylation damage by DNA dioxygenases, organism-specific biosystem (from REACTOME)
    Reversal of alkylation damage by DNA dioxygenases, organism-specific biosystemDNA in cells is susceptible to different types of cytotoxic and mutagenic damage caused by alkylating agents. These genotoxic chemicals generate major lesions like 1-methyladenine, 3-methyladenine, 3...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA dealkylation involved in DNA repair TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
activating signal cointegrator 1 complex subunit 1
Names
ASC-1 complex subunit P50
trip4 complex subunit p50

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_031890.1 RefSeqGene

    Range
    5694..126103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001198798.2NP_001185727.1  activating signal cointegrator 1 complex subunit 1 isoform b

    See identical proteins and their annotated locations for NP_001185727.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC022392, BC012291, DA951859
    Consensus CDS
    CCDS31219.1
    UniProtKB/Swiss-Prot
    Q8N9N2
    UniProtKB/TrEMBL
    A0A024QZM0
    Related
    ENSP00000378377.1, ENST00000394919.5
    Conserved Domains (2) summary
    cd02394
    Location:62120
    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:133356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  2. NM_001198799.2NP_001185728.1  activating signal cointegrator 1 complex subunit 1 isoform a

    See identical proteins and their annotated locations for NP_001185728.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC022392, AK094170, DA582532, DA942671
    Consensus CDS
    CCDS55713.1
    UniProtKB/Swiss-Prot
    Q8N9N2
    Related
    ENSP00000339404.4, OTTHUMP00000019784, ENST00000342444.8, OTTHUMT00000048573
    Conserved Domains (3) summary
    PLN00108
    Location:157370
    PLN00108; unknown protein; Provisional
    cd02394
    Location:99148
    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:161349
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  3. NM_001198800.2NP_001185729.1  activating signal cointegrator 1 complex subunit 1 isoform b

    See identical proteins and their annotated locations for NP_001185729.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three exons in the coding region, which results in a translational frameshift, compared to variant 1. Variants 2 and 4 encode the same isoform (b) which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC022392, AK023436, DA582532
    Consensus CDS
    CCDS31219.1
    UniProtKB/Swiss-Prot
    Q8N9N2
    UniProtKB/TrEMBL
    A0A024QZM0
    Related
    ENSP00000320810.6, OTTHUMP00000019783, ENST00000317168.10, OTTHUMT00000048572
    Conserved Domains (2) summary
    cd02394
    Location:62120
    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:133356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain

RNA

  1. NR_045564.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks three internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC022392, AK298302, CD706699, DC361917

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    72096032..72218777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448030.1XP_024303798.1  activating signal cointegrator 1 complex subunit 1 isoform X1

    Conserved Domains (2) summary
    cd02394
    Location:84142
    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:155354
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  2. XM_024448032.1XP_024303800.1  activating signal cointegrator 1 complex subunit 1 isoform X4

    Conserved Domains (2) summary
    cd02394
    Location:84142
    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:155335
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  3. XM_024448031.1XP_024303799.1  activating signal cointegrator 1 complex subunit 1 isoform X2

    Conserved Domains (2) summary
    cd02394
    Location:84142
    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:155354
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  4. XM_017016293.2XP_016871782.1  activating signal cointegrator 1 complex subunit 1 isoform X7

    Conserved Domains (3) summary
    PLN00108
    Location:129333
    PLN00108; unknown protein; Provisional
    cd02394
    Location:62120
    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:133319
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  5. XM_011539841.3XP_011538143.1  activating signal cointegrator 1 complex subunit 1 isoform X5

    See identical proteins and their annotated locations for XP_011538143.1

    Related
    ENSP00000431299.1, OTTHUMP00000229899, ENST00000486689.6
    Conserved Domains (3) summary
    PLN00108
    Location:129342
    PLN00108; unknown protein; Provisional
    cd02394
    Location:62120
    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:133321
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  6. XM_017016291.2XP_016871780.1  activating signal cointegrator 1 complex subunit 1 isoform X3

  7. XM_006717873.4XP_006717936.1  activating signal cointegrator 1 complex subunit 1 isoform X6

    See identical proteins and their annotated locations for XP_006717936.1

    UniProtKB/Swiss-Prot
    Q8N9N2
    UniProtKB/TrEMBL
    A0A024QZM0
    Related
    ENSP00000320461.4, OTTHUMP00000229901, ENST00000317126.8
    Conserved Domains (2) summary
    cd02394
    Location:62120
    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:133356
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  8. XM_017016294.2XP_016871783.1  activating signal cointegrator 1 complex subunit 1 isoform X7

    Conserved Domains (3) summary
    PLN00108
    Location:129333
    PLN00108; unknown protein; Provisional
    cd02394
    Location:62120
    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:133319
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  9. XM_011539842.3XP_011538144.1  activating signal cointegrator 1 complex subunit 1 isoform X5

    See identical proteins and their annotated locations for XP_011538144.1

    Conserved Domains (3) summary
    PLN00108
    Location:129342
    PLN00108; unknown protein; Provisional
    cd02394
    Location:62120
    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:133321
    AKAP7_NLS; AKAP7 2'5' RNA ligase-like domain
  10. XM_017016292.2XP_016871781.1  activating signal cointegrator 1 complex subunit 1 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_015947.3: Suppressed sequence

    Description
    NM_015947.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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