TRIP4 (thyroid hormone receptor interactor 4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9325
Gene name Thyroid hormone receptor interactor 4
Gene symbol TRIP4
Synonyms (NCBI Gene)
ASC-1ASC1HsT17391MDCDCSMABF1ZC2HC5
Chromosome 15
Chromosome location 15q22.31
Summary This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcri
SNPs SNP information provided by dbSNP.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs147303485 C>T Likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs200549601 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs760447338 CATA>-,CATACATA Likely-pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs761865592 C>T Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs869312827 C>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
482
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (482)
miRTarBase ID miRNA Experiments Reference
MIRT719627 hsa-miR-4728-3p HITS-CLIP 19536157
MIRT719626 hsa-miR-1537-5p HITS-CLIP 19536157
MIRT719625 hsa-miR-4718 HITS-CLIP 19536157
MIRT719624 hsa-miR-4999-5p HITS-CLIP 19536157
MIRT461191 hsa-miR-6768-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 25219498
GO:0003713 Function Transcription coactivator activity IMP 25219498
GO:0005515 Function Protein binding IPI 25219498
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 10454579, 12077347, 25219498, 26924529
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604501 12310 ENSG00000103671
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15650
Protein name Activating signal cointegrator 1 (ASC-1) (Thyroid receptor-interacting protein 4) (TR-interacting protein 4) (TRIP-4)
Protein function Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription (PubMed:
PDB 2E5O , 8ALZ , 8YEW , 8YEY , 8YFI , 8YFJ , 8YXW , 8YXX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06221 zf-C2HC5 168 → 216 Putative zinc finger motif, C2HC5-type Domain
PF04266 ASCH 437 → 551 ASCH domain Domain
Sequence 
MAVAGAVSGEPLVHWCTQQLRKTFGLDVSEEIIQYVLSIESAEEIREYVTDLLQGNEGKK
GQFIEELITKWQKNDQELISDPLQQCFKKDEILDGQKSGDHLKRGRKKGRNRQEVPAFTE
PDTTAEVKTPFDLAKAQENSNSVKKKTKFVNLYTREGQDRLAVLLPGRHPCDCLGQKHKL
INNCLICGRIVCEQEGSGPCLFCGTLVCTHEEQDILQRDSNKSQKLLKKLMSGVENSGKV
DISTKDLLPHQELRIKSGLEKAIKHKDKLLEFDRTSIRRTQVIDDESDYFASDSNQWLSK
LERETLQKREEELRELRHASRLSKKVTIDFAGRKILEEENSLAEYHSRLDETIQAIANGT
LNQPLTKLDRSSEEPLGVLVNPNMYQSPPQWVDHTGAASQKKAFRSSGFGLEFNSFQHQL
RIQDQEFQEGFDGGWCLSVHQPWASLLVRGIKRVEGRSWYTPHRGRLWIAATAKKPSPQE
VSELQATYRLLRGKDVEFPNDYPSGCLLGCVDLIDCLSQKQFKEQFPDISQESDSPFVFI
CKNPQEMVVKFPIKGNPKIWKLDSKIHQGAKKGLMKQNKAV
Sequence length 581
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Centronuclear myopathy Pathogenic rs2505390122, rs2505448975 RCV004587612
RCV004587613
Cervical cancer Likely pathogenic rs374032892 RCV005931138
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Pathogenic rs748828135, rs200549601 RCV005002857
RCV000239524
Gastric cancer Likely pathogenic rs374032892 RCV005931139
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs112913281 RCV005917043
Familial cancer of breast Likely benign rs200983450 RCV005917863
Sarcoma Benign rs112913281 RCV005917045
Thymoma Benign rs112913281 RCV005917047
Show/Hide Text Mining Associations (25)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24495969
Amyotrophic Lateral Sclerosis Associate 31794073
Carcinogenesis Associate 40180167
Carcinoma Renal Cell Associate 40765826
Cardiomyopathies Associate 31794073
Cardiomyopathy Dilated Associate 31794073
Cerebellar Hypoplasia Associate 34075209
Disease Associate 31794073
DNA Virus Infections Associate 27184836
Fractures Bone Associate 34075209, 38143368