iPTMnet Report for Q8NFJ9 (BBS1)


Protein Information

Cytoscape View


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
DAG View
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

Interactive Sequence View

Select/align proteoforms across species


Q8NFJ9 (BBS1) as Substrate



Site PTM Type PTM Enzyme Score Source PMID
A2 Acetylation UniProt 19413330
K143 Ubiquitination PhosphoSitePlus
K153 Ubiquitination PhosphoSitePlus
K208 Ubiquitination PhosphoSitePlus
C285 Methylation IEDB 31844290
K317 Ubiquitination PhosphoSitePlus
T332 Phosphorylation PhosphoSitePlus
S340 Phosphorylation PhosphoSitePlus
K361 Ubiquitination PhosphoSitePlus
T369 Phosphorylation PhosphoSitePlus
Y381 Phosphorylation PhosphoSitePlus
T387 Phosphorylation PhosphoSitePlus
T391 Phosphorylation PhosphoSitePlus
T392 Phosphorylation PhosphoSitePlus
T454 Phosphorylation PhosphoSitePlus
Y457 Phosphorylation PhosphoSitePlus
T498 Phosphorylation PhosphoSitePlus
K565 Ubiquitination PhosphoSitePlus
Site PTM Type PTM Enzyme Score Source PMID
T392 Phosphorylation HPRD 17924679


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 ]