UniProt | Protein Name |
---|---|
B7ZAN4 |
|
Q9NX46 |
|
GO Term | Evidence Code | PMID |
---|---|---|
peptidyl-serine ADP-deribosylation | ||
cellular response to superoxide | ||
base-excision repair, gap-filling | ||
negative regulation of necroptotic process | ||
DNA repair |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
nuclear body | ||
cytoplasm | ||
site of DNA damage | ||
mitochondrial matrix |
GO Term | Evidence Code | PMID |
---|---|---|
ADP-ribosylserine hydrolase activity | ||
magnesium ion binding | ||
poly(ADP-ribose) glycohydrolase activity | ||
O-acetyl-ADP-ribose deacetylase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:9837 | hypertropia | |
DOID:9650 | pathologic nystagmus | |
DOID:0060260 | ptosis | |
DOID:0060261 | congenital ptosis | |
DOID:0070352 | stress-induced childhood-onset neurodegeneration with variable ataxia and seizures | |
DOID:0090105 | autosomal recessive hypercholesterolemia | |
DOID:10127 | cerebral artery occlusion | |
DOID:1059 | intellectual disability | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0000486 | Strabismus |
HP:0000508 | Ptosis |
HP:0000602 | Ophthalmoplegia |
HP:0000639 | Nystagmus |
HP:0000651 | Diplopia |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
Disease ID | Disease Name |
---|---|
OMIM:618170 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103185621 | CALMI32708 | ||
102353686 | LATCH18702 | ||
796446 | ZFIN:ZDB-GENE-040912-85 | DANRE12490 | |
103033656 | ASTMX09676 | ||
100528849 | ICTPU35257 | ||
113576641 | ELEEL19816 | ||
115162109 | SALTR56414 | ||
115543550 | GADMO49891 | ||
101170235 | ORYLA10674 | ||
100707617 | ORENI30931 |
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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