iPTMnet Report for Q8NFJ9 (BBS1)
Protein Information
UniProt AC / UniProt ID | Q8NFJ9 / BBS1_HUMAN |
Protein Name | Bardet-Biedl syndrome 1 protein |
Gene Name | Name: BBS1 Synonyms:BBS2L2; |
Organism | Homo sapiens (Human) |
PRO ID | PR:Q8NFJ9 |
PRO Name | Bardet-Biedl syndrome 1 protein (human) |
Definition | A Bardet-Biedl syndrome 1 protein that is encoded in the genome of human. |
Short Label | hBBS1 |
Category | organism-gene |
Q8NFJ9 (BBS1) as Substrate
Site | PTM Type | PTM Enzyme | Score | Source | PMID | |
---|---|---|---|---|---|---|
A2 | Acetylation | score1 | UniProt | 19413330 | ||
K143 | Ubiquitination | score1 | PhosphoSitePlus | |||
K153 | Ubiquitination | score1 | PhosphoSitePlus | |||
K208 | Ubiquitination | score1 | PhosphoSitePlus | |||
C285 | Methylation | score1 | IEDB | 31844290 | ||
K317 | Ubiquitination | score1 | PhosphoSitePlus | |||
T332 | Phosphorylation | score1 | PhosphoSitePlus | |||
S340 | Phosphorylation | score1 | PhosphoSitePlus | |||
K361 | Ubiquitination | score1 | PhosphoSitePlus | |||
T369 | Phosphorylation | score1 | PhosphoSitePlus | |||
Y381 | Phosphorylation | score1 | PhosphoSitePlus | |||
T387 | Phosphorylation | score1 | PhosphoSitePlus | |||
T391 | Phosphorylation | score1 | PhosphoSitePlus | |||
T392 | Phosphorylation | score1 | PhosphoSitePlus | |||
T454 | Phosphorylation | score1 | PhosphoSitePlus | |||
Y457 | Phosphorylation | score1 | PhosphoSitePlus | |||
T498 | Phosphorylation | score1 | PhosphoSitePlus | |||
K565 | Ubiquitination | score1 | PhosphoSitePlus |
Proteoform PPIs
Protein 1 | Relation | Protein 2 | Source | PMID | |
---|---|---|---|---|---|
PR:Q96QF0-1 (hRAB3IP/iso:1) | Interaction | PR:Q8NFJ9 (hBBS1) | PRO | 17574030 | |
PR:Q96QF0-2 (hRAB3IP/iso:2) | Interaction | PR:Q8NFJ9 (hBBS1) | PRO | 17574030 |
PTM sites affected in variants
Site | Variant | Source | PMID | Disease [Sample source] |
---|---|---|---|---|
K317 | N317 | Biomuta | DOID:4159 / skin cancer [ cosmic, icgc ] | |
S340 | F340 | Biomuta | DOID:4159 / skin cancer [ cosmic, icgc ] | |
K565 | M565 | Biomuta | DOID:8618 / oral cavity cancer [ cosmic ] |