iPTMnet Report for Q6QNY1 (BLOC1S2)
Protein Information
UniProt AC / UniProt ID | Q6QNY1 / BL1S2_HUMAN |
Protein Name | Biogenesis of lysosome-related organelles complex 1 subunit 2 |
Gene Name | Name: BLOC1S2 Synonyms:BLOS2,CEAP; |
Organism | Homo sapiens (Human) |
PRO ID | PR:Q6QNY1 |
PRO Name | biogenesis of lysosome-related organelles complex 1 subunit 2 (human) |
Definition | A biogenesis of lysosome-related organelles complex 1 subunit 2 that is encoded in the genome of human. |
Short Label | hBLOC1S2 |
Category | organism-gene |
Q6QNY1 (BLOC1S2) as Substrate
Site | PTM Type | PTM Enzyme | Score | Source | PMID | |
---|---|---|---|---|---|---|
A2 | Acetylation | score1 | UniProt | 22814378, 25944712 | ||
K30 | Ubiquitination | score1 | PhosphoSitePlus | |||
K64 | Acetylation | score1 | PhosphoSitePlus | |||
K71 | Ubiquitination | score1 | PhosphoSitePlus | |||
K76 | Ubiquitination | score1 | PhosphoSitePlus |
PTM sites affected in variants
Site | Variant | Source | PMID | Disease [Sample source] |
---|---|---|---|---|
K30 | E30 | Biomuta | DOID:2394 / ovarian cancer [ cosmic, icgc ] | |
K64 | T64 | Biomuta | DOID:9256 / colorectal cancer [ icgc ] |