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Protein Page:
SLC17A5 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
SLC17A5 Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable). Defects in SLC17A5 are the cause of Salla disease (SD); also known as Finnish type sialuria. SD is a sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N- acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. Defects in SLC17A5 are the cause of infantile sialic acid storage disorder (ISSD); also known as N- acetylneuraminic acid storage disease (NSD). ISSD is a severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end- stage of a wide variety of disorders. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transporter, SLC family; Membrane protein, multi-pass; Membrane protein, integral; Vesicle protein; Transporter
Cellular Component: synaptic vesicle membrane; membrane; integral to plasma membrane; lysosomal membrane; cytoplasm; plasma membrane; cell junction
Molecular Function: sugar:hydrogen ion symporter activity; sialic acid transmembrane transporter activity
Biological Process: proton transport; sialic acid transport; amino acid transport; ion transport; transmembrane transport; anion transport
Reference #:  Q9NRA2 (UniProtKB)
Alt. Names/Synonyms: AST; FLJ22227; FLJ23268; ISSD; Membrane glycoprotein HP59; NSD; S17A5; SD; sialic acid storage disease; Sialin; SIASD; SLC17A5; SLD; Sodium/sialic acid cotransporter; solute carrier family 17 (anion/sugar transporter), member 5; Solute carrier family 17 member 5; solute carrier family 17, member 5
Gene Symbols: SLC17A5
Molecular weight: 54,640 Da
Basal Isoelectric point: 8.51  Predict pI for various phosphorylation states
Select Structure to View Below

SLC17A5

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

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 2 S3-p _____MRsPVRDLAR
0 3 S16-p ARNDGEEsTDRtPLL
0 4 T17 RNDGEEsTDRtPLLP
0 1 R19 DGEEsTDRtPLLPGA
0 1 T20-p GEEsTDRtPLLPGAP
0 2 Y261-p KHKRISHyEkEYILS
0 2 K263-ub KRISHyEkEYILSSL
0 1 R271 EYILSSLRNQLSSQk
0 2 K278-ub RNQLSSQkSVPWVPI
0 1 Y315-p LLTLLPTyMKEILRF
  mouse

 
P3 _____MRPLLRGPAG
S16-p AGNDDEEssDsTPLL
S17-p GNDDEEssDsTPLLP
S19-p DDEEssDsTPLLPGA
T20 DEEssDsTPLLPGAR
Y261 THKTISHYEKEYIVS
K263 KTISHYEKEYIVSSL
K271-ub EYIVSSLkNQLSSQK
K278 kNQLSSQKVVPWGSI
Y315 LLTLLPTYMKEILRF
  rat

 
P3 _____MRPLLRGPAG
S16-p AGNDDEEssDsTPLL
S17-p GNDDEEssDsTPLLP
S19-p DDEEssDsTPLLPSA
T20 DEEssDsTPLLPSAR
Y261 THKTISHYEKEYIVS
K263 KTISHYEKEYIVSSL
K271 EYIVSSLKNQLSSQK
K278 KNQLSSQKVVPWVSI
Y315 LLTLLPTYMKEILRF
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