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Protein Page:
SLC35C1 (human)

Overview
SLC35C1 Involved in GDP-fucose import from the cytoplasm into the Golgi lumen. Defects in SLC35C1 are the cause of congenital disorder of glycosylation type 2C (CDG2C); also known as leukocyte adhesion deficiency type II (LAD2). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. Belongs to the TPT transporter family. SLC35C subfamily. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 11p11.2
Cellular Component: Golgi membrane; integral to membrane
Biological Process: carbohydrate transport; lipid glycosylation; negative regulation of Notch signaling pathway; transmembrane transport
Reference #:  Q96A29 (UniProtKB)
Gene Symbols: SLC35C1
Molecular weight: 39,809 Da
Basal Isoelectric point: 8.66  Predict pI for various phosphorylation states
Select Structure to View Below

SLC35C1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 Y61 SMVFLNKYLLDSPSL
0 1 S353-p KKTPEEPsPKDSEKS
  mouse

 
Y60-p SMVFLNKyLLDSPSL
S352 QKTQEDPSSKDGEKS
  rat

 
Y60 SMVFLNKYLLDSPSL
S352 QKTQEDPSSKEGEKS
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