GenTIGSA Gene Database on Rare Genetic Disorders

Thyroid hormone receptor interactor 11 (TRIP11) Associated conditions:  1. Achondrogenesis 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_001321851.1 NP_001308780.1 NC_000014.9 (91965990..92040058, complement) Reference GRCh38.p14 Primary Assembly -
2 REVIEWED NM_004239.4 NP_004230.2 NC_000014.9 (91965990..92040058, complement) Reference GRCh38.p14 Primary Assembly -
3 REVIEWED XR_001750598.3 - NC_000014.9 (91965990..92040058, complement) Reference GRCh38.p14 Primary Assembly -
4 REVIEWED XR_943560.3 - NC_000014.9 (91965990..92040058, complement) Reference GRCh38.p14 Primary Assembly -

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 1101 reference articles

Variant Information Thyroid hormone receptor interactor 11 (TRIP11) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns

GO Term of Thyroid hormone receptor interactor 11 (TRIP11)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensTASlocated_inGolgi membraneComponent- 
2Homo sapiensIEAlocated_inacrosomal membraneComponent- 
3Homo sapiensTASenablestranscription coactivator activityFunction9256431 
4Homo sapiensIPIenablesprotein bindingFunction17438371 19112494 25473115 
30021884 33961781 
5Homo sapiensIDAlocated_inendoplasmic reticulum-Golgi intermediate compartmentComponent25473115 
6Homo sapiensIBAis_active_inGolgi apparatusComponent- 
7Homo sapiensIDAlocated_inGolgi apparatusComponent- 
8Homo sapiensIEAlocated_inGolgi apparatusComponent- 
9Homo sapiensIEAlocated_incis-Golgi networkComponent- 
10Homo sapiensIEAlocated_incytoskeletonComponent- 
11Homo sapiensTASinvolved_intranscription by RNA polymerase IIProcess9256431 
12Homo sapiensIBAinvolved_inendoplasmic reticulum to Golgi vesicle-mediated transportProcess- 
13Homo sapiensIBAinvolved_inGolgi organizationProcess- 
14Homo sapiensTASlocated_intransport vesicleComponent- 
15Homo sapiensIBAenablessmall GTPase bindingFunction- 
16Homo sapiensIEAlocated_inendoplasmic reticulum-Golgi intermediate compartment membraneComponent- 
17Homo sapiensIEAinvolved_inpositive regulation of DNA-templated transcriptionProcess- 
18Homo sapiensIMPinvolved_incartilage developmentProcess30728324 
19Homo sapiensIMPinvolved_inGolgi ribbon formationProcess25473115 
20Homo sapiensIMPinvolved_invesicle tethering to GolgiProcess25473115 
21Homo sapiensIEAinvolved_inprotein localization to ciliary membraneProcess-