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HUMAN:MYOTI
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | MYOT (synonyms: TTID) | |
| Protein Name(s) | Myotilin
57 kDa cytoskeletal protein Myofibrillar titin-like Ig domains protein Titin immunoglobulin domain protein | |
| External Links | ||
| UniProt | Q9UBF9 | |
| EMBL | AF133820 AF144477 AK300088 AC106791 BC005376 | |
| CCDS | CCDS4194.1 CCDS47268.1 | |
| RefSeq | NP_001129412.1 NP_001287840.1 NP_006781.1 | |
| UniGene | Hs.84665 | |
| PDB | 2KDG 2KKQ | |
| PDBsum | 2KDG 2KKQ | |
| ProteinModelPortal | Q9UBF9 | |
| SMR | Q9UBF9 | |
| BioGrid | 114878 | |
| IntAct | Q9UBF9 | |
| STRING | 9606.ENSP00000239926 | |
| PhosphoSite | Q9UBF9 | |
| DMDM | 311033402 | |
| PaxDb | Q9UBF9 | |
| PRIDE | Q9UBF9 | |
| DNASU | 9499 | |
| Ensembl | ENST00000239926 ENST00000421631 | |
| GeneID | 9499 | |
| KEGG | hsa:9499 | |
| UCSC | uc003lbv.3 | |
| CTD | 9499 | |
| GeneCards | GC05P137203 | |
| GeneReviews | MYOT | |
| HGNC | HGNC:12399 | |
| HPA | HPA037733 | |
| MIM | 159000 182920 604103 609200 | |
| neXtProt | NX_Q9UBF9 | |
| Orphanet | 266 98911 268129 | |
| PharmGKB | PA37064 | |
| eggNOG | NOG147321 | |
| GeneTree | ENSGT00760000119215 | |
| HOGENOM | HOG000028074 | |
| HOVERGEN | HBG066530 | |
| InParanoid | Q9UBF9 | |
| OMA | DSVKLEC | |
| PhylomeDB | Q9UBF9 | |
| ChiTaRS | MYOT | |
| EvolutionaryTrace | Q9UBF9 | |
| GeneWiki | Myotilin | |
| GenomeRNAi | 9499 | |
| NextBio | 35590 | |
| PRO | PR:Q9UBF9 | |
| Proteomes | UP000005640 | |
| Bgee | Q9UBF9 | |
| CleanEx | HS_MYOT | |
| ExpressionAtlas | Q9UBF9 | |
| Genevestigator | Q9UBF9 | |
| GO | GO:0015629 GO:0042383 GO:0030018 GO:0051393 GO:0008307 GO:0006936 | |
| Gene3D | 2.60.40.10 | |
| InterPro | IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 | |
| Pfam | PF07679 | |
| SMART | SM00409 SM00408 | |
| PROSITE | PS50835 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
| GO:0030018 |
Z disc |
ECO:0000315 |
C |
Figure 2d shows LGMD1A muscle exhibiting patches of striking Z-line irregularity. |
complete | |||||
|
part_of |
GO:0030018 |
Z disc |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0050808 |
synapse organization |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002895063 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0043025 |
neuronal cell body |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002895063 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0030424 |
axon |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002895063 |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0008046 |
axon guidance receptor activity |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002895063 |
F |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0007156 |
homophilic cell adhesion via plasma membrane adhesion molecules |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0017590 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005886 |
plasma membrane |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
PANTHER:PTN002895062 |
C |
Seeded From UniProt |
complete | ||
|
enables |
GO:0051393 |
alpha-actinin binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0030018 |
Z disc |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007411 |
axon guidance |
ECO:0000364 |
evidence based on logical inference from manual annotation used in automatic assertion |
GO:0008046 |
P |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0015629 |
actin cytoskeleton |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0008307 |
structural constituent of muscle |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006936 |
muscle contraction |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005856 |
cytoskeleton |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005737 |
cytoplasm |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0016020 |
membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003779 |
actin binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005886 |
plasma membrane |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0042383 |
sarcolemma |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0030018 |
Z disc |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 Hauser, MA et al. (2000) Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum. Mol. Genet. 9 2141-7 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Salmikangas, P et al. (1999) Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum. Mol. Genet. 8 1329-36 PubMed GONUTS page
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