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Q9NRA2

- S17A5_HUMAN

UniProt

Q9NRA2 - S17A5_HUMAN

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Protein
Sialin
Gene
SLC17A5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO3-/H+ cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.5 Publications

GO - Molecular functioni

  1. sialic acid transmembrane transporter activity Source: MGI
  2. sugar:proton symporter activity Source: ProtInc

GO - Biological processi

  1. amino acid transport Source: UniProtKB-KW
  2. anion transport Source: ProtInc
  3. ion transport Source: Reactome
  4. proton transport Source: GOC
  5. sialic acid transport Source: MGI
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_19372. Organic anion transporters.
REACT_200874. Sialic acid metabolism.

Protein family/group databases

TCDBi2.A.1.14.10. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Sialin
Alternative name(s):
H(+)/nitrate cotransporter
H(+)/sialic acid cotransporter
Short name:
AST
Membrane glycoprotein HP59
Solute carrier family 17 member 5
Vesicular H(+)/Aspartate-glutamate cotransporter
Gene namesi
Name:SLC17A5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:10933. SLC17A5.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane. Lysosome membrane; Multi-pass membrane protein 3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4141Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei42 – 6221Helical; Reviewed prediction
Add
BLAST
Topological domaini63 – 10947Lumenal Reviewed prediction
Add
BLAST
Transmembranei110 – 13021Helical; Reviewed prediction
Add
BLAST
Topological domaini131 – 1366Cytoplasmic Reviewed prediction
Transmembranei137 – 15721Helical; Reviewed prediction
Add
BLAST
Topological domaini158 – 1581Lumenal Reviewed prediction
Transmembranei159 – 17921Helical; Reviewed prediction
Add
BLAST
Topological domaini180 – 20021Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei201 – 22121Helical; Reviewed prediction
Add
BLAST
Topological domaini222 – 2276Lumenal Reviewed prediction
Transmembranei228 – 24821Helical; Reviewed prediction
Add
BLAST
Topological domaini249 – 27931Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei280 – 30021Helical; Reviewed prediction
Add
BLAST
Topological domaini301 – 32828Lumenal Reviewed prediction
Add
BLAST
Transmembranei329 – 34921Helical; Reviewed prediction
Add
BLAST
Topological domaini350 – 36516Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei366 – 38621Helical; Reviewed prediction
Add
BLAST
Topological domaini387 – 3915Lumenal Reviewed prediction
Transmembranei392 – 41221Helical; Reviewed prediction
Add
BLAST
Topological domaini413 – 42311Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei424 – 44421Helical; Reviewed prediction
Add
BLAST
Topological domaini445 – 45713Lumenal Reviewed prediction
Add
BLAST
Transmembranei458 – 47821Helical; Reviewed prediction
Add
BLAST
Topological domaini479 – 49517Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. cytoplasm Source: HPA
  3. integral component of plasma membrane Source: ProtInc
  4. lysosomal membrane Source: UniProtKB
  5. membrane Source: ProtInc
  6. plasma membrane Source: HPA
  7. synaptic vesicle membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasmic vesicle, Lysosome, Membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Salla disease (SD) [MIM:604369]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391R → C in SD; completely devoid of aspartate and glutamate transport activity, but retains appreciable H(+)/sialic acid cotransport activity, frequent mutation in Finland. 4 Publications
VAR_018684
Natural varianti136 – 1361K → E in SD. 1 Publication
VAR_018685
Natural varianti183 – 1831H → R in ISSD. 2 Publications
VAR_018686
Natural varianti268 – 2725Missing in ISSD.
VAR_018687
Natural varianti334 – 3341P → R in ISSD. 2 Publications
VAR_018688
Natural varianti371 – 3711G → V in ISSD. 1 Publication
VAR_018689
Infantile sialic acid storage disorder (ISSD) [MIM:269920]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831H → R in ISSD. 2 Publications
VAR_018686
Natural varianti268 – 2725Missing in ISSD.
VAR_018687
Natural varianti334 – 3341P → R in ISSD. 2 Publications
VAR_018688
Natural varianti371 – 3711G → V in ISSD. 1 Publication
VAR_018689
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.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi22 – 232LL → GG: Targeted to plasma membrane; sialic acid uptake strongly activated at acidic pH. 1 Publication
Mutagenesisi179 – 1791F → C: 15 fold increase in affinity for glucuronic acid. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi269920. phenotype.
604369. phenotype.
Orphaneti309324. Free sialic acid storage disease, infantile form.
309331. Intermediate severe Salla disease.
309334. Salla disease.
PharmGKBiPA35824.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 495495Sialin
PRO_0000220947Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi71 – 711N-linked (GlcNAc...) Reviewed prediction
Glycosylationi77 – 771N-linked (GlcNAc...) Reviewed prediction
Glycosylationi95 – 951N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9NRA2.
PaxDbiQ9NRA2.
PRIDEiQ9NRA2.

PTM databases

PhosphoSiteiQ9NRA2.

Expressioni

Tissue specificityi

Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues.2 Publications

Gene expression databases

ArrayExpressiQ9NRA2.
BgeeiQ9NRA2.
CleanExiHS_SLC17A5.
GenevestigatoriQ9NRA2.

Organism-specific databases

HPAiHPA044479.

Interactioni

Protein-protein interaction databases

BioGridi117710. 2 interactions.
IntActiQ9NRA2. 1 interaction.
STRINGi9606.ENSP00000348019.

Structurei

3D structure databases

ProteinModelPortaliQ9NRA2.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi22 – 232Dileucine internalization motif

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0477.
HOGENOMiHOG000230811.
HOVERGENiHBG008834.
InParanoidiQ9NRA2.
KOiK12301.
OMAiKHKRISH.
OrthoDBiEOG789C9Z.
PhylomeDBiQ9NRA2.
TreeFamiTF313535.

Family and domain databases

InterProiIPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view]
PfamiPF07690. MFS_1. 1 hit.
[Graphical view]
SUPFAMiSSF103473. SSF103473. 2 hits.
PROSITEiPS50850. MFS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NRA2-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MRSPVRDLAR NDGEESTDRT PLLPGAPRAE AAPVCCSARY NLAILAFFGF    50
FIVYALRVNL SVALVDMVDS NTTLEDNRTS KACPEHSAPI KVHHNQTGKK 100
YQWDAETQGW ILGSFFYGYI ITQIPGGYVA SKIGGKMLLG FGILGTAVLT 150
LFTPIAADLG VGPLIVLRAL EGLGEGVTFP AMHAMWSSWA PPLERSKLLS 200
ISYAGAQLGT VISLPLSGII CYYMNWTYVF YFFGTIGIFW FLLWIWLVSD 250
TPQKHKRISH YEKEYILSSL RNQLSSQKSV PWVPILKSLP LWAIVVAHFS 300
YNWTFYTLLT LLPTYMKEIL RFNVQENGFL SSLPYLGSWL CMILSGQAAD 350
NLRAKWNFST LCVRRIFSLI GMIGPAVFLV AAGFIGCDYS LAVAFLTIST 400
TLGGFCSSGF SINHLDIAPS YAGILLGITN TFATIPGMVG PVIAKSLTPD 450
NTVGEWQTVF YIAAAINVFG AIFFTLFAKG EVQNWALNDH HGHRH 495
Length:495
Mass (Da):54,640
Last modified:June 7, 2004 - v2
Checksum:i5C6C154B3E93A19E
GO
Isoform 2 (identifier: Q9NRA2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-276: LSS → AGV
     278-495: Missing.

Show »
Length:277
Mass (Da):30,667
Checksum:i1BF03EA560AB80DB
GO

Sequence cautioni

The sequence AAF97769.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391R → C in SD; completely devoid of aspartate and glutamate transport activity, but retains appreciable H(+)/sialic acid cotransport activity, frequent mutation in Finland. 4 Publications
VAR_018684
Natural varianti136 – 1361K → E in SD. 1 Publication
VAR_018685
Natural varianti183 – 1831H → R in ISSD. 2 Publications
VAR_018686
Natural varianti268 – 2725Missing in ISSD.
VAR_018687
Natural varianti296 – 2961V → I.
Corresponds to variant rs16883930 [ dbSNP | Ensembl ].
VAR_034746
Natural varianti334 – 3341P → R in ISSD. 2 Publications
VAR_018688
Natural varianti371 – 3711G → V in ISSD. 1 Publication
VAR_018689

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei274 – 2763LSS → AGV in isoform 2.
VSP_010482
Alternative sequencei278 – 495218Missing in isoform 2.
VSP_010483Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF244577 mRNA. Translation: AAF97769.1. Different initiation.
AJ387747 mRNA. Translation: CAB62540.1.
AK075320 mRNA. Translation: BAC11546.1.
AL590428, AL121972 Genomic DNA. Translation: CAI15635.1.
AL121972, AL590428 Genomic DNA. Translation: CAI20417.1.
BC020961 mRNA. Translation: AAH20961.1.
CCDSiCCDS4981.1. [Q9NRA2-1]
RefSeqiNP_036566.1. NM_012434.4. [Q9NRA2-1]
UniGeneiHs.597422.

Genome annotation databases

EnsembliENST00000355773; ENSP00000348019; ENSG00000119899. [Q9NRA2-1]
GeneIDi26503.
KEGGihsa:26503.
UCSCiuc003phn.4. human. [Q9NRA2-1]

Polymorphism databases

DMDMi48428688.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF244577 mRNA. Translation: AAF97769.1 . Different initiation.
AJ387747 mRNA. Translation: CAB62540.1 .
AK075320 mRNA. Translation: BAC11546.1 .
AL590428 , AL121972 Genomic DNA. Translation: CAI15635.1 .
AL121972 , AL590428 Genomic DNA. Translation: CAI20417.1 .
BC020961 mRNA. Translation: AAH20961.1 .
CCDSi CCDS4981.1. [Q9NRA2-1 ]
RefSeqi NP_036566.1. NM_012434.4. [Q9NRA2-1 ]
UniGenei Hs.597422.

3D structure databases

ProteinModelPortali Q9NRA2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117710. 2 interactions.
IntActi Q9NRA2. 1 interaction.
STRINGi 9606.ENSP00000348019.

Protein family/group databases

TCDBi 2.A.1.14.10. the major facilitator superfamily (mfs).

PTM databases

PhosphoSitei Q9NRA2.

Polymorphism databases

DMDMi 48428688.

Proteomic databases

MaxQBi Q9NRA2.
PaxDbi Q9NRA2.
PRIDEi Q9NRA2.

Protocols and materials databases

DNASUi 26503.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355773 ; ENSP00000348019 ; ENSG00000119899 . [Q9NRA2-1 ]
GeneIDi 26503.
KEGGi hsa:26503.
UCSCi uc003phn.4. human. [Q9NRA2-1 ]

Organism-specific databases

CTDi 26503.
GeneCardsi GC06M074359.
GeneReviewsi SLC17A5.
HGNCi HGNC:10933. SLC17A5.
HPAi HPA044479.
MIMi 269920. phenotype.
604322. gene.
604369. phenotype.
neXtProti NX_Q9NRA2.
Orphaneti 309324. Free sialic acid storage disease, infantile form.
309331. Intermediate severe Salla disease.
309334. Salla disease.
PharmGKBi PA35824.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0477.
HOGENOMi HOG000230811.
HOVERGENi HBG008834.
InParanoidi Q9NRA2.
KOi K12301.
OMAi KHKRISH.
OrthoDBi EOG789C9Z.
PhylomeDBi Q9NRA2.
TreeFami TF313535.

Enzyme and pathway databases

Reactomei REACT_19372. Organic anion transporters.
REACT_200874. Sialic acid metabolism.

Miscellaneous databases

GeneWikii HP59.
SLC17A5.
GenomeRNAii 26503.
NextBioi 48778.
PROi Q9NRA2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NRA2.
Bgeei Q9NRA2.
CleanExi HS_SLC17A5.
Genevestigatori Q9NRA2.

Family and domain databases

InterProi IPR011701. MFS.
IPR020846. MFS_dom.
IPR016196. MFS_dom_general_subst_transpt.
[Graphical view ]
Pfami PF07690. MFS_1. 1 hit.
[Graphical view ]
SUPFAMi SSF103473. SSF103473. 2 hits.
PROSITEi PS50850. MFS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis."
    Fu C., Bardhan S., Cetateanu N.D., Wamil B.D., Wang Y., Yan H.-P., Shi E., Carter C., Venkov C., Yakes F.M., Page D.L., Lloyd R.S., Mernaugh R.L., Hellerqvist C.G.
    Clin. Cancer Res. 7:4182-4194(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT SD CYS-39, VARIANTS ISSD 268-SER--ASN-272 DEL; ARG-183 AND ARG-334.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon.
  6. "Functional characterization of wild-type and mutant human sialin."
    Morin P., Sagne C., Gasnier B.
    EMBO J. 23:4560-4570(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DILEUCINE MOTIF, MUTAGENESIS OF 22-LEU--LEU-23.
  7. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Placenta.
  8. "Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes."
    Courville P., Quick M., Reimer R.J.
    J. Biol. Chem. 285:19316-19323(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: TOPOLOGY, MUTAGENESIS OF PHE-179.
  9. "Functional characterization of vesicular excitatory amino acid transport by human sialin."
    Miyaji T., Omote H., Moriyama Y.
    J. Neurochem. 119:1-5(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT SD CYS-39.
  10. Cited for: FUNCTION, SUBCELLULAR LOCATION.
  11. "The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation."
    Aula N., Salomaeki P., Timonen R., Verheijen F., Mancini G.M.S., Maensson J.-E., Aula P., Peltonen L.
    Am. J. Hum. Genet. 67:832-840(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SD CYS-39 AND GLU-136, VARIANTS ISSD 268-SER--ASN-272 DEL; ARG-183; ARG-334 AND VAL-371.
  12. "Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs."
    Martin R.A., Slaugh R., Natowicz M., Pearlman K., Orvisky E., Krasnewich D., Kleta R., Huizing M., Gahl W.A.
    Am. J. Med. Genet. A 120:23-27(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SD CYS-39.

Entry informationi

Entry nameiS17A5_HUMAN
AccessioniPrimary (citable) accession number: Q9NRA2
Secondary accession number(s): Q5SZ76, Q8NBR5, Q9UGH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: September 3, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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