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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]
ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1) is a Protein Coding gene. Diseases associated with ASCC1 include Spinal Muscular Atrophy With Congenital Bone Fractures 2 and Barrett Esophagus. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 12077347 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IDA | 12077347 |
GO:0016607 | nuclear speck | IEA | -- |
GO:0031594 | neuromuscular junction | IMP | 26924529 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | DNA Damage Reversal | ||
2 | DNA Double-Strand Break Repair |
.53
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006307 | DNA dealkylation involved in DNA repair | TAS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IDA | 12077347 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASCC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASCC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASCC1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ascc1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ascc1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASCC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASCC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASCC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ascc1 30 |
|
||
Str.20363 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | ascc1 30 |
|
||
ASCC1 31 |
|
OneToOne | |||
Dr.16673 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007571 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12129 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C23H3.3 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G16230 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0231900 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
619021 | Pathogenic: Fetal akinesia sequence; Arthrogryposis multiplex congenita; Spinal muscular atrophy with congenital bone fractures 2; Pena-Shokeir syndrome type I | 72,161,537(-) | C/T | SPLICE_DONOR_VARIANT | |
711061 | Likely Benign: not provided | 72,102,875(-) | T/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
711537 | Benign: not provided | 72,128,128(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
712097 | Likely Benign: not provided | 72,128,097(-) | G/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
714485 | Conflicting Interpretations: not provided | 72,213,192(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv154e199 | CNV | deletion | 23128226 |
dgv477n106 | CNV | tandem duplication | 24896259 |
esv24033 | CNV | loss | 19812545 |
esv2667465 | CNV | deletion | 23128226 |
esv2670261 | CNV | deletion | 23128226 |
esv2671699 | CNV | deletion | 23128226 |
esv2738385 | CNV | deletion | 23290073 |
esv3623791 | CNV | loss | 21293372 |
esv3623792 | CNV | loss | 21293372 |
esv3623794 | CNV | loss | 21293372 |
esv3891857 | CNV | loss | 25118596 |
nsv1069497 | CNV | deletion | 25765185 |
nsv1126259 | CNV | deletion | 24896259 |
nsv1145468 | CNV | deletion | 24896259 |
nsv1161975 | CNV | duplication | 26073780 |
nsv442192 | CNV | loss | 18776908 |
nsv508592 | CNV | deletion | 20534489 |
nsv551513 | CNV | loss | 21841781 |
nsv948062 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinal muscular atrophy with congenital bone fractures 2 |
|
|
barrett esophagus |
|
|
prenatal-onset spinal muscular atrophy with congenital bone fractures |
|
|
arthrogryposis, distal, type 1a |
|
|
fetal akinesia deformation sequence 1 |
|
|