TRIOBP - TRIO and F-actin binding protein Gene
Also Known as TARA; TAP68; DFNB28; dJ37E16.4; HRIHFB2122
Species: Homo sapiens
About TRIOBP
This gene has 11 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 8.0), placenta (RPKM 7.0) and 25 other tissues.
Summary
This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin Cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]
TRIOBP Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001039141.3 | NP_001034230.1 | TRIO and F-actin-binding protein isoform 6 |
| NM_007032.5 | NP_008963.3 | TRIO and F-actin-binding protein isoform 1 |
| NM_138632.2 | NP_619538.2 | TRIO and F-actin-binding protein isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
11148140 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
24692559 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
18194665 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within positive regulation of substrate adhesion-dependent cell spreading |
IDA
IDA: Inferred from direct assay
|
11148140 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in actin cytoskeleton |
IDA
IDA: Inferred from direct assay
|
11148140 | GOA |
TRIOBP Protein Structure
PH: PH domain (1781 - 1886)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2365 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
TRIO and F-actin-binding protein |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 28 |
|
|
| Non-Syndromic Genetic Deafness |
|
|
| Nonsyndromic Hearing Loss |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Deafness, Autosomal Recessive |
|
|
| Deafness, Autosomal Recessive 79 |
|
|
| Sensorineural Hearing Loss |
|
|
| Autosomal Recessive Nonsyndromic Deafness 36 |
|
|
| Deafness, Autosomal Recessive 93 |
|
|
| Deafness, Autosomal Dominant 2b |
|
|
| Deafness, Autosomal Dominant 58 |
|
|
| Deafness, Autosomal Recessive 61 |
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
|
| Deafness, X-Linked 3 |
|
|
| Deafness, Autosomal Dominant 3a |
|
|
| Deafness, Autosomal Dominant 4b |
|
|
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
|
| Deafness, Autosomal Recessive 35 |
|
|
| Deafness, Autosomal Recessive 25 |
|
|
| Deafness, Autosomal Recessive 24 |
|
|
| Deafness, Autosomal Recessive 42 |
|
|
| Deafness, Autosomal Recessive 37 |
|
|
| Deafness, Autosomal Recessive 12 |
|
|
| Deafness, Autosomal Recessive 9 |
|
|
| Deafness, Autosomal Dominant 10 |
|
|
| Deafness, Autosomal Recessive 63 |
|
|
| Deafness, Autosomal Recessive 1a |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Auditory System Disease |
|
|
| Usher Syndrome, Type I |
|
|
| Usher Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | TRIOBP | VGNC | VGNC:98463 |
| Mus musculus | TRIOBP | MGD | MGI:1349410 |
| Canis familiaris | TRIOBP | VGNC | VGNC:47843 |
| Bos taurus | TRIOBP | VGNC | VGNC:36357 |
| Rattus norvegicus | TRIOBP | RGD | RGD:1308485 |
| Others | TRIOBP | NCBI |