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Beta-hexosaminidase subunit beta
Summary
- UniProt ID
- P07686
- Gene Symbol
-
- HEXB
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Cytoplasmic vesicle
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Gangliosidosis
- Glycoprotein
- Glycosidase
- Lipid metabolism
- Lysosome
- Neurodegeneration
- Reference proteome
- Signal
- Zymogen
- Gene Ontology (GO)
| GO Term |
|---|
| identical protein binding |
| beta-N-acetylhexosaminidase activity |
| acetylglucosaminyltransferase activity |
| N-acetyl-beta-D-galactosaminidase activity |
- Site Annotations
| Position | Description |
|---|---|
| 497 | Not glycosylated |
Sequence
MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLLVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTIVEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 84 | N-linked (GlcNAc...) asparagine | |||
| 142 | N-linked (GlcNAc...) asparagine | |||
| 190 | N-linked (GlcNAc...) asparagine | |||
| 232 |
|
|
||
| 323 |
|
|
||
| 327 | N-linked (GlcNAc...) asparagine | |||
|
|
G88989HA
G05724UK
G25386IJ
G39188ZX
G84155GY
G06110VR
G51623PN
G08011QI
G74724QE
G82348BZ
G02402FF
G22768VO
G43734MM
G40926MX
G49906RN
G10601XM
G10486CT
G31852PQ
G43947VZ
G23719VF
G39446WN
G41247ZX
G02815KT
G92050GC
G28681TP
G82443XX
G55132BD
G92135MA
G34989PA
G43223CG
G37412TK
G00912UN
G01650EU
G25079LO
G80920RR
G64409MC
G62765YT
G47644PP
G88891KO
G90734RJ
G28541PG
G95865ZB
G90575OW
G50282JC
G84349RE
G92275SC
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| CS/DS degradation | Homo sapiens |
| Defective HEXB causes GM2G2 | Homo sapiens |
| Glycosphingolipid catabolism | Homo sapiens |
| Hyaluronan uptake and degradation | Homo sapiens |
| Keratan sulfate degradation | Homo sapiens |
| Neutrophil degranulation | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2841 | asthma | |
| DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
| DOID:0060194 | amyotrophic lateral sclerosis type 2 | |
| DOID:0060196 | amyotrophic lateral sclerosis type 4 | |
| DOID:0060490 | Schimke immuno-osseous dysplasia | |
| DOID:0111064 | autosomal recessive distal hereditary motor neuronopathy 1 | |
| DOID:0111154 | postural orthostatic tachycardia syndrome | |
| DOID:11120 | psychologic dyspareunia | |
| DOID:11155 | hypohidrosis | |
| DOID:11156 | anhidrosis |
