TRIP4 (thyroid hormone receptor interactor 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9325
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid hormone receptor interactor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRIP4
Synonyms (NCBI Gene) Gene synonyms aliases
ASC-1, ASC1, HsT17391, MDCDC, SMABF1, ZC2HC5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDCDC, SMABF1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(27)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 25219498
GO:0003713 Function Transcription coactivator activity IBA 21873635
GO:0003713 Function Transcription coactivator activity IMP 25219498
GO:0005515 Function Protein binding IPI 25219498
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604501 12310 ENSG00000103671
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (11)
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)		 24162737
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome rs200549601
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Show/Hide Text Mining Associations (25)
Associations from Text Mining
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