Hmdb loader
Identification
HMDB Protein ID HMDBP02797
Secondary Accession Numbers
  • 8303
Name Sialin
Synonyms
  1. AST
  2. Membrane glycoprotein HP59
  3. Sodium/sialic acid cotransporter
  4. Solute carrier family 17 member 5
Gene Name SLC17A5
Protein Type Unknown
Biological Properties
General Function Involved in transmembrane transport
Specific Function Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable)
Pathways
  • Amino Sugar Metabolism
  • G(M2)-Gangliosidosis: Variant B, Tay-sachs disease
  • Salla Disease/Infantile Sialic Acid Storage Disease
  • Sialuria or French Type Sialuria
  • Tay-Sachs Disease
Reactions Not Available
GO Classification
Process
establishment of localization
transport
transmembrane transport
Cellular Location
  1. Lysosome membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:6
Locus 6q14-q15
SNPs SLC17A5
Gene Sequence
>1488 bp
ATGAGGTCTCCGGTTCGAGACCTGGCCCGGAACGATGGCGAGGAGAGCACGGACCGCACG
CCTCTTCTACCGGGCGCCCCACGGGCCGAAGCCGCTCCAGTGTGCTGCTCTGCTCGTTAC
AACTTAGCAATTTTGGCCTTTTTTGGTTTCTTCATTGTGTATGCATTACGTGTGAATCTG
AGTGTTGCGTTAGTGGATATGGTAGATTCAAATACAACTTTAGAAGATAATAGAACTTCC
AAGGCGTGTCCAGAGCATTCTGCTCCCATAAAAGTTCATCATAATCAAACGGGTAAGAAG
TACCAATGGGATGCAGAAACTCAAGGATGGATTCTCGGTTCCTTTTTTTATGGCTACATC
ATCACACAGATTCCTGGAGGATATGTTGCCAGCAAAATAGGGGGGAAAATGCTGCTAGGA
TTTGGGATCCTTGGCACTGCTGTCCTCACCCTGTTCACTCCCATTGCTGCAGATTTAGGA
GTTGGACCACTCATTGTACTCAGAGCACTAGAAGGACTAGGAGAGGGTGTTACATTTCCA
GCCATGCATGCCATGTGGTCTTCTTGGGCTCCCCCTCTTGAAAGAAGCAAACTTCTTAGC
ATTTCATATGCAGGAGCACAGCTTGGGACAGTAATTTCTCTTCCTCTTTCTGGAATAATT
TGCTACTATATGAATTGGACTTATGTCTTCTACTTTTTTGGTACTATTGGAATATTTTGG
TTTCTTTTGTGGATCTGGTTAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCAT
TATGAAAAGGAATACATTCTTTCATCATTAAGAAATCAGCTTTCTTCACAGAAGTCAGTG
CCGTGGGTACCCATTTTAAAATCCCTGCCACTTTGGGCTATCGTAGTTGCACACTTTTCT
TACAACTGGACTTTTTATACTTTATTGACATTATTGCCTACTTATATGAAGGAGATCCTA
AGGTTCAATGTTCAAGAGAATGGGTTTTTATCTTCATTGCCTTATTTAGGCTCTTGGTTA
TGTATGATCCTGTCTGGTCAAGCTGCTGACAATTTAAGGGCAAAATGGAATTTTTCAACT
TTATGTGTTCGCAGAATTTTTAGCCTTATAGGAATGATTGGACCTGCAGTATTCCTGGTA
GCTGCTGGCTTCATTGGCTGTGATTATTCTTTGGCCGTTGCTTTCCTAACTATATCAACA
ACACTGGGAGGCTTTTGCTCTTCTGGATTTAGCATCAACCATCTGGATATTGCTCCTTCG
TATGCTGGTATCCTCCTGGGCATCACAAATACATTTGCCACTATTCCAGGAATGGTTGGG
CCCGTCATTGCTAAAAGTCTGACCCCTGATAACACTGTTGGAGAATGGCAAACCGTGTTC
TATATTGCTGCTGCTATTAATGTTTTTGGTGCCATTTTCTTTACACTATTCGCCAAAGGT
GAAGTACAAAACTGGGCTCTCAATGATCACCATGGACACAGACACTGA
Protein Properties
Number of Residues 495
Molecular Weight 54639.0
Theoretical pI 8.36
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 42-62
  • 110-130
  • 137-157
  • 159-179
  • 201-221
  • 228-248
  • 280-300
  • 329-349
  • 366-386
  • 392-412
  • 424-444
  • 458-478
Protein Sequence
>Sialin
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNL
SVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYI
ITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFP
AMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFST
LCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH
GenBank ID Protein 6912666
UniProtKB/Swiss-Prot ID Q9NRA2
UniProtKB/Swiss-Prot Entry Name S17A5_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_012434.4
GeneCard ID SLC17A5
GenAtlas ID SLC17A5
HGNC ID HGNC:10933
References
General References
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  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  4. Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A: Integral and associated lysosomal membrane proteins. Traffic. 2007 Dec;8(12):1676-86. Epub 2007 Sep 26. [PubMed:17897319 ]
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  7. Aula N, Salomaki P, Timonen R, Verheijen F, Mancini G, Mansson JE, Aula P, Peltonen L: The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet. 2000 Oct;67(4):832-40. Epub 2000 Aug 17. [PubMed:10947946 ]
  8. Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA: Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. Am J Med Genet A. 2003 Jul 1;120A(1):23-7. [PubMed:12794687 ]