UniProt | Protein Name |
---|---|
P07602 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of beta-galactosidase activity | ||
epithelial cell differentiation involved in prostate gland development | ||
sphingolipid metabolic process | ||
prostate gland growth | ||
regulation of autophagy |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular space | ||
lysosomal membrane |
|
|
lysosomal lumen |
|
|
extracellular exosome | ||
lysosome |
GO Term | Evidence Code | PMID |
---|---|---|
ganglioside GM1 binding | ||
ganglioside GM3 binding | ||
protein homodimerization activity | ||
ganglioside GT1b binding | ||
scaffold protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110552 | autosomal dominant nonsyndromic deafness 22 | |
DOID:0110553 | autosomal dominant nonsyndromic deafness 23 | |
DOID:0110554 | autosomal dominant nonsyndromic deafness 24 | |
DOID:0110555 | autosomal dominant nonsyndromic deafness 25 | |
DOID:0110556 | autosomal dominant nonsyndromic deafness 27 | |
DOID:0110557 | autosomal dominant nonsyndromic deafness 28 | |
DOID:0110558 | autosomal dominant nonsyndromic deafness 2A | |
DOID:0110559 | autosomal dominant nonsyndromic deafness 2B | |
DOID:0110560 | autosomal dominant nonsyndromic deafness 30 | |
DOID:0110561 | autosomal dominant nonsyndromic deafness 31 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000020 | Urinary incontinence |
HP:0000365 | Hearing impairment |
HP:0000467 | Neck muscle weakness |
HP:0000496 | Abnormality of eye movement |
HP:0000508 | Ptosis |
HP:0000572 | Visual loss |
HP:0000605 | Supranuclear gaze palsy |
HP:0000613 | Photophobia |
Disease ID | Disease Name |
---|---|
OMIM:611721 |
|
ORPHA:139406 |
|
ORPHA:309271 |
|
OMIM:611722 |
|
ORPHA:206436 |
|
ORPHA:309263 |
|
OMIM:610539 |
|
ORPHA:309256 |
|
OMIM:619491 |
|
OMIM:249900 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101871137 | MELUD00139 | ||
100567906 | ANOCA04330 | ||
103667803 | URSMA03605 | ||
114040376 | VOMUR13216 | ||
113885240 | BOBOX32536 | ||
100954560 | OTOGA17110 | ||
105722640 | AOTNA28199 | ||
101036085 | SAIBB14459 | ||
101976627 | ICTTR00281 | ||
101604750 | JACJA09319 |
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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