Protein Information

Cytoscape View


UniProt AC / UniProt ID Q8IWZ6 / BBS7_HUMAN
Protein Name Bardet-Biedl syndrome 7 protein
Gene Name Name: BBS7
Synonyms:BBS2L1;
Organism Homo sapiens (Human)

PRO ID PR:Q8IWZ6
DAG View
PRO Name Bardet-Biedl syndrome 7 protein (human)
Definition A Bardet-Biedl syndrome 7 protein that is encoded in the genome of human.
Short Label hBBS7
Category organism-gene

Interactive Sequence View

Select/align proteoforms across species


Q8IWZ6 (BBS7) as Substrate



Site PTM Type PTM Enzyme Score Source PMID
M1 Acetylation UniProt 22814378
K19 Ubiquitination PhosphoSitePlus
K22 Ubiquitination PhosphoSitePlus
T32 Phosphorylation PhosphoSitePlus
K51 Ubiquitination PhosphoSitePlus
K59 Ubiquitination PhosphoSitePlus
K65 Ubiquitination PhosphoSitePlus
S88 Phosphorylation PhosphoSitePlus
S126 Phosphorylation PhosphoSitePlus
K333 Ubiquitination PhosphoSitePlus
K341 Ubiquitination PhosphoSitePlus
K355 Ubiquitination PhosphoSitePlus
K384 Ubiquitination PhosphoSitePlus
S460 Phosphorylation PhosphoSitePlus
K479 Ubiquitination PhosphoSitePlus
K489 Ubiquitination PhosphoSitePlus
S567 Phosphorylation PhosphoSitePlus
K577 Ubiquitination PhosphoSitePlus
K582 Ubiquitination PhosphoSitePlus
Y615 Phosphorylation PhosphoSitePlus
K621 Acetylation PhosphoSitePlus
K622 Acetylation PhosphoSitePlus
K622 Ubiquitination PhosphoSitePlus
K662 Ubiquitination PhosphoSitePlus
Site PTM Type PTM Enzyme Score Source PMID
T32 Phosphorylation HPRD 20058876
Y615 Phosphorylation HPRD 19664994
Site PTM Type PTM Enzyme Score Source PMID
T32 Phosphorylation HPRD 20058876
Y615 Phosphorylation HPRD 19664994


PTM sites affected in variants

Site Variant Source PMID Disease [Sample source]
K59 N59 Biomuta DOID:1324 / lung cancer [ cosmic, icgc, tcga ]
S88 Y88 Biomuta DOID:1793 / pancreatic cancer [ tcga ]
K355 Q355 Biomuta DOID:9256 / colorectal cancer [ tcga ]
K384 T384 Biomuta DOID:363 / uterine cancer [ tcga ]
S460 L460 Biomuta DOID:3070 / malignant glioma [ tcga ]
S460 * Biomuta DOID:11934 / head and neck cancer [ tcga ]
K489 R489 Biomuta DOID:363 / uterine cancer [ cosmic, icgc, tcga ]
K577 I577 Biomuta DOID:3963 / thyroid carcinoma [ cosmic, icgc ]