UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neuromuscular process | ||
skeletal muscle fiber differentiation | ||
protein tetramerization | ||
response to activity | ||
lipid metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
extracellular space | ||
sarcolemma | ||
Golgi apparatus | ||
skeletal muscle myofibril |
GO Term | Evidence Code | PMID |
---|---|---|
dystroglycan binding | ||
laminin binding | ||
metal ion binding | ||
protein binding | ||
phosphotransferase activity, for other substituted phosphate groups |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Rattus norvegicus | NP_001020849 | NM_001025678 |
Drosophila melanogaster | NP_611531 | NM_137687 |
Mus musculus | NP_775606 | NM_173430 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110454 | dilated cardiomyopathy 1S | |
DOID:0110455 | dilated cardiomyopathy 1U | |
DOID:0110456 | dilated cardiomyopathy 1R | |
DOID:0110457 | dilated cardiomyopathy 1Y | |
DOID:0110458 | dilated cardiomyopathy 1BB | |
DOID:0110459 | dilated cardiomyopathy 1FF | |
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0110632 | megaconial type congenital muscular dystrophy | |
DOID:0110633 | rigid spine muscular dystrophy 1 |
HPO ID | HPO Term |
---|---|
HP:0003327 | Axial muscle weakness |
HP:0003394 | Muscle spasm |
HP:0003457 | EMG abnormality |
HP:0003458 | EMG: myopathic abnormalities |
HP:0003547 | Shoulder girdle muscle weakness |
HP:0003549 | Abnormality of connective tissue |
HP:0003551 | Difficulty climbing stairs |
HP:0003560 | Muscular dystrophy |
HP:0003577 | Congenital onset |
HP:0003623 | Neonatal onset |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:34515 |
|
OMIM:606612 |
|
ORPHA:899 |
|
ORPHA:370968 |
|
OMIM:236670 |
|
ORPHA:370959 |
|
OMIM:607155 |
|
OMIM:613153 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
37375 | FB:FBgn0034567 | ||
102354608 | LATCH10430 | ||
571426 | ZFIN:ZDB-GENE-070412-4 | DANRE09821 | |
108277811 | ICTPU10772 | ||
113579447 | ELEEL24133 | ||
106612391 | SALSA141488 | ||
115528948 | GADMO19771 | ||
101164830 | ORYLA03404 | ||
100691656 | ORENI17492 | ||
115594198 | SPAAU17563 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024