UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
response to alcohol | ||
connective tissue replacement | ||
basement membrane organization | ||
response to glucocorticoid | ||
phosphatidylinositol 3-kinase/protein kinase B signal transduction |
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:0060807 | syndromic X-linked intellectual disability Najm type | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0060857 | septooptic dysplasia | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
DOID:0090132 | complex cortical dysplasia with other brain malformations 7 | |
DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110213 | isolated cleft palate | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy |
HPO ID | HPO Term |
---|---|
HP:0007204 | Diffuse white matter abnormalities |
HP:0007256 | Abnormal pyramidal sign |
HP:0007260 | Type II lissencephaly |
HP:0007291 | Posterior fossa cyst |
HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
HP:0007361 | Abnormal pons morphology |
HP:0007731 | Chorioretinal dysplasia |
HP:0007957 | Corneal opacity |
HP:0007973 | Retinal dysplasia |
HP:0008180 | Mildly elevated creatine kinase |
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 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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