Details for: SLC17A5

Gene ID: 26503

Symbol: SLC17A5

Ensembl ID: ENSG00000119899

Description: solute carrier family 17 member 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 197.8203
    Cell Significance Index: -30.7700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 118.0003
    Cell Significance Index: -29.9300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 68.3085
    Cell Significance Index: -32.2500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 61.1435
    Cell Significance Index: -24.8400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 48.0759
    Cell Significance Index: -32.2600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.0960
    Cell Significance Index: -24.9200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.2239
    Cell Significance Index: -31.1000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.1129
    Cell Significance Index: -29.7700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.9016
    Cell Significance Index: -31.1800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.8269
    Cell Significance Index: -24.0400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.3648
    Cell Significance Index: -13.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9836
    Cell Significance Index: 322.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.5138
    Cell Significance Index: 176.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4710
    Cell Significance Index: 295.0800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2246
    Cell Significance Index: 73.5200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.1609
    Cell Significance Index: 10.6900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0564
    Cell Significance Index: 114.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9225
    Cell Significance Index: 43.0100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.8645
    Cell Significance Index: 18.9300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7374
    Cell Significance Index: 72.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7118
    Cell Significance Index: 255.3300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6886
    Cell Significance Index: 52.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.6576
    Cell Significance Index: 17.5600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.6401
    Cell Significance Index: 7.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5958
    Cell Significance Index: 40.0600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5767
    Cell Significance Index: 39.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.5715
    Cell Significance Index: 14.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5498
    Cell Significance Index: 24.3200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5050
    Cell Significance Index: 31.8300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5047
    Cell Significance Index: 90.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4965
    Cell Significance Index: 18.8000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.3875
    Cell Significance Index: 3.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3372
    Cell Significance Index: 66.9100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2958
    Cell Significance Index: 204.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2789
    Cell Significance Index: 34.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2595
    Cell Significance Index: 13.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2503
    Cell Significance Index: 136.7200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1962
    Cell Significance Index: 4.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1007
    Cell Significance Index: 2.9000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0957
    Cell Significance Index: 2.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0836
    Cell Significance Index: 3.7900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0714
    Cell Significance Index: 131.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0588
    Cell Significance Index: 1.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0466
    Cell Significance Index: 21.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0438
    Cell Significance Index: 19.3600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0408
    Cell Significance Index: 76.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0403
    Cell Significance Index: 7.6600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0385
    Cell Significance Index: 0.6600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0374
    Cell Significance Index: 0.7300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0181
    Cell Significance Index: 11.4800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0140
    Cell Significance Index: 1.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0090
    Cell Significance Index: 13.7800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0039
    Cell Significance Index: 5.2800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: -0.0033
    Cell Significance Index: -3.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0254
    Cell Significance Index: -19.2000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0273
    Cell Significance Index: -20.0300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0274
    Cell Significance Index: -3.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0284
    Cell Significance Index: -21.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0492
    Cell Significance Index: -27.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0508
    Cell Significance Index: -5.1900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0572
    Cell Significance Index: -7.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0580
    Cell Significance Index: -36.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0619
    Cell Significance Index: -10.5700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0652
    Cell Significance Index: -4.0100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0906
    Cell Significance Index: -26.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1017
    Cell Significance Index: -14.7900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1215
    Cell Significance Index: -15.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1453
    Cell Significance Index: -7.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1588
    Cell Significance Index: -7.4700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1656
    Cell Significance Index: -34.8900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1737
    Cell Significance Index: -2.1600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1748
    Cell Significance Index: -1.8100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1759
    Cell Significance Index: -2.4000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1764
    Cell Significance Index: -20.2200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1940
    Cell Significance Index: -22.8800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2021
    Cell Significance Index: -2.5200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2028
    Cell Significance Index: -21.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2209
    Cell Significance Index: -11.6000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2341
    Cell Significance Index: -4.9900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2375
    Cell Significance Index: -5.0400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2415
    Cell Significance Index: -17.0800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2723
    Cell Significance Index: -15.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2815
    Cell Significance Index: -5.8400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2920
    Cell Significance Index: -8.1600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3004
    Cell Significance Index: -8.6100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3089
    Cell Significance Index: -19.9300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3150
    Cell Significance Index: -4.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3296
    Cell Significance Index: -26.1100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3581
    Cell Significance Index: -4.5200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.3802
    Cell Significance Index: -4.0400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4234
    Cell Significance Index: -10.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4268
    Cell Significance Index: -13.6700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4672
    Cell Significance Index: -9.3800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4687
    Cell Significance Index: -11.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4804
    Cell Significance Index: -15.3000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5050
    Cell Significance Index: -10.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5250
    Cell Significance Index: -17.1900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5321
    Cell Significance Index: -32.6200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5358
    Cell Significance Index: -10.6000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.5526
    Cell Significance Index: -16.2300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Expression Pattern:** SLC17A5 is widely expressed in various cell types, including OFF retinal ganglion cells, choroid plexus epithelial cells, and neurons. 2. **Protein Structure:** Sialin is a transmembrane protein consisting of 12 transmembrane domains, with a large extracellular loop and a small intracellular loop. 3. **Transport Function:** SLC17A5 is involved in the transport of various molecules, including amino acids, inorganic cations/anions, and small molecules. **Pathways and Functions:** 1. **Amino Acid Transport:** SLC17A5 is involved in the transport of amino acids across cellular membranes, playing a crucial role in maintaining amino acid homeostasis. 2. **Asparagine N-Linked Glycosylation:** SLC17A5 is also involved in the biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, DLO) and its transfer to nascent proteins. 3. **Proton Transmembrane Transport:** SLC17A5 can transport protons across cellular membranes, contributing to the regulation of pH levels. 4. **Carbohydrate Transport:** SLC17A5 is involved in the transport of carbohydrates, including sialic acid, across cellular membranes. **Clinical Significance:** 1. **Salla Disease (SD) and Issaac Syndrome (ISD):** Mutations in the SLC17A5 gene have been linked to SD and ISD, two rare genetic disorders characterized by impaired solute carrier function. 2. **Neurological Disorders:** SLC17A5 dysfunction has been implicated in various neurological disorders, including epilepsy, ataxia, and cognitive impairment. 3. **Cancer:** Aberrant expression and function of SLC17A5 have been observed in various types of cancer, suggesting its potential role as a tumor suppressor. 4. **Infectious Diseases:** SLC17A5 may play a role in the transport of antimicrobial peptides and other molecules involved in immune response. In conclusion, SLC17A5 is a complex gene involved in various cellular processes, including solute carrier transport, asparagine N-linked glycosylation, and proton transmembrane transport. Its dysregulation has been implicated in various diseases, including Salla disease, Issaac syndrome, and neurological disorders. Further research is needed to fully elucidate the functions and clinical significance of SLC17A5.

Genular Protein ID: 2306865611

Symbol: S17A5_HUMAN

Name: Sialin

UniProtKB Accession Codes:

Q9NRA2 Q5SZ76 Q8NBR5 Q9UGH0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EMDB 7 Ensembl 1 GO 16 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 2 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 1 Rhea 12 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11751519

Title: Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis.

PubMed ID: 11751519

PubMed ID: 10581036

Title: A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

PubMed ID: 10581036

DOI: 10.1038/70585

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15510212

Title: Functional characterization of wild-type and mutant human sialin.

PubMed ID: 15510212

DOI: 10.1038/sj.emboj.7600464

PubMed ID: 17897319

Title: Integral and associated lysosomal membrane proteins.

PubMed ID: 17897319

DOI: 10.1111/j.1600-0854.2007.00643.x

PubMed ID: 20424173

Title: Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.

PubMed ID: 20424173

DOI: 10.1074/jbc.m110.130716

PubMed ID: 21781115

Title: Functional characterization of vesicular excitatory amino acid transport by human sialin.

PubMed ID: 21781115

DOI: 10.1111/j.1471-4159.2011.07388.x

PubMed ID: 22778404

Title: Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane.

PubMed ID: 22778404

DOI: 10.1073/pnas.1116633109

PubMed ID: 23889254

Title: Vesicular uptake of N-acetylaspartylglutamate is catalysed by sialin (SLC17A5).

PubMed ID: 23889254

DOI: 10.1042/bj20130300

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 10947946

Title: The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

PubMed ID: 10947946

DOI: 10.1086/303077

PubMed ID: 12794687

Title: Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

PubMed ID: 12794687

DOI: 10.1002/ajmg.a.10246

PubMed ID: 15172005

Title: A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

PubMed ID: 15172005

DOI: 10.1016/j.ymgme.2004.03.005

Sequence Information:

  • Length: 495
  • Mass: 54640
  • Checksum: 5C6C154B3E93A19E
  • Sequence:
    • MRSPVRDLAR NDGEESTDRT PLLPGAPRAE AAPVCCSARY NLAILAFFGF FIVYALRVNL 
SVALVDMVDS NTTLEDNRTS KACPEHSAPI KVHHNQTGKK YQWDAETQGW ILGSFFYGYI 
ITQIPGGYVA SKIGGKMLLG FGILGTAVLT LFTPIAADLG VGPLIVLRAL EGLGEGVTFP 
AMHAMWSSWA PPLERSKLLS ISYAGAQLGT VISLPLSGII CYYMNWTYVF YFFGTIGIFW 
FLLWIWLVSD TPQKHKRISH YEKEYILSSL RNQLSSQKSV PWVPILKSLP LWAIVVAHFS 
YNWTFYTLLT LLPTYMKEIL RFNVQENGFL SSLPYLGSWL CMILSGQAAD NLRAKWNFST 
LCVRRIFSLI GMIGPAVFLV AAGFIGCDYS LAVAFLTIST TLGGFCSSGF SINHLDIAPS 
YAGILLGITN TFATIPGMVG PVIAKSLTPD NTVGEWQTVF YIAAAINVFG AIFFTLFAKG 
EVQNWALNDH HGHRH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.