FKRP_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: FKRP_HUMAN
• UniProt AC: Q9H9S5
• Protein Name: Fukutin-related protein
• Gene Name: FKRP
• Organism: Homo sapiens (Human).
• Sequence Length: 495
• Subcellular Localization: Golgi apparatus membrane ; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma. Rough endoplasmic reticulum. According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and t
• Protein Description: Transferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity..
• Protein Sequence: MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFDNAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETYVATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTARYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTFAAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTVVGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWDYDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPFYPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIENPQYPNPALLSLTGSG

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
123	O-linked_Glycosylation	RPETYVATEFVALVP CCCCEEEEEEEEECC	21.66	OGP
162	Phosphorylation	LVAAPVATANPARCL EEEECCCCCCHHHHH	27.48	24719451
172	N-linked_Glycosylation	PARCLALNVSLREWT HHHHHEEECCHHHHH	18.74	21886772
174	Phosphorylation	RCLALNVSLREWTAR HHHEEECCHHHHHHH	22.19	24719451
209	N-linked_Glycosylation	LRARDLFNLSAPLAR EEHHHHHCCCCCCCC	40.14	21886772
396	Ubiquitination	ERGFVWEKAVEGDFF CCCCEEEEEEECCEE	41.86	-

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Oops, there are no upstream regulatory protein records of FKRP_HUMAN !!

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of FKRP_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of FKRP_HUMAN !!

Protein-Protein Interaction

Oops, there are no PPI records of FKRP_HUMAN !!

Drug and Disease Associations

• Kegg Disease
• H00120: Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenit
• H00590: Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UC
• H00593: Limb-girdle muscular dystrophy (LGMD)
• OMIM Disease
• 613153: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5)
• 606612: Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)
• 607155: Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.

Related Literatures of Post-Translational Modification

N-linked Glycosylation

"Fukutin-related protein resides in the Golgi cisternae of skeletalmuscle fibres and forms disulfide-linked homodimers via an N-Terminalinteraction.";
Alhamidi M., Kjeldsen Buvang E., Fagerheim T., Brox V., Lindal S.,Van Ghelue M., Nilssen O.;
PLoS ONE 6:E22968-E22968(2011).
Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION AT ASN-172 AND ASN-209, SUBUNIT,AND DISULFIDE BOND.
PubMed: 21886772