Protein Information

Cytoscape View

UniProt AC / UniProt ID Q5HYA8 / MKS3_HUMAN
Protein Name Meckelin precursor
Gene Name Name: TMEM67
Organism Homo sapiens (Human)

DAG View
PRO Name meckelin (human)
Definition A meckelin that is encoded in the genome of human.
Short Label hTMEM67
Category organism-gene

Interactive Sequence View

Select/align proteoforms across species

Q5HYA8 (TMEM67) as Substrate

Site PTM Type PTM Enzyme Score Source PMID
Y337 Phosphorylation PhosphoSitePlus
K435 Ubiquitination PhosphoSitePlus
S449 Phosphorylation PhosphoSitePlus
T543 Phosphorylation PhosphoSitePlus
K650 Ubiquitination PhosphoSitePlus
K810 Ubiquitination PhosphoSitePlus
Y874 Phosphorylation PhosphoSitePlus
K899 Ubiquitination PhosphoSitePlus
K986 Ubiquitination PhosphoSitePlus

PTM sites affected in variants

Site Variant Source PMID Disease [Sample source]
Y337 D337 Biomuta DOID:3571 / liver cancer [ icgc ] DOID:0070003 / blastoma [ cosmic ]
K986 R986 Biomuta DOID:363 / uterine cancer [ tcga ]