UniProt | Protein Name |
---|---|
Q9H9S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
reproductive process | ||
muscle contraction | ||
protein processing |
GO Term | Evidence Code | PMID |
---|---|---|
Golgi membrane | ||
rough endoplasmic reticulum | ||
nucleoplasm |
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:0050453 | lissencephaly | |
DOID:0050463 | campomelic dysplasia | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0080033 | craniometaphyseal dysplasia | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0080102 | congenital myopathy 4A |
HPO ID | HPO Term |
---|---|
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
HP:0001349 | Facial diplegia |
HP:0001360 | Holoprosencephaly |
HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
HP:0001608 | Abnormality of the voice |
HP:0001638 | Cardiomyopathy |
HP:0001644 | Dilated cardiomyopathy |
HP:0001712 | Left ventricular hypertrophy |
HP:0001771 | Achilles tendon contracture |
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