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Aliases for SLC17A9 Gene

Aliases for SLC17A9 Gene

  • Solute Carrier Family 17 (Vesicular Nucleotide Transporter), Member 9 2 3
  • C20orf59 3 4 6
  • Vesicular Nucleotide Transporter SLC17A9 3
  • Chromosome 20 Open Reading Frame 59 2
  • Solute Carrier Family 17, Member 9 2
  • Solute Carrier Family 17 Member 9 3
  • POROK8 3
  • VNUT 3

External Ids for SLC17A9 Gene

Previous HGNC Symbols for SLC17A9 Gene

  • C20orf59

Previous GeneCards Identifiers for SLC17A9 Gene

  • GC20P061055
  • GC20P061583
  • GC20P058301

Summaries for SLC17A9 Gene

Entrez Gene Summary for SLC17A9 Gene

  • This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for SLC17A9 Gene

SLC17A9 (Solute Carrier Family 17 (Vesicular Nucleotide Transporter), Member 9) is a Protein Coding gene. Diseases associated with SLC17A9 include porokeratosis 8, disseminated superficial actinic type and porokeratosis. GO annotations related to this gene include transporter activity. An important paralog of this gene is SLC17A8.

UniProtKB/Swiss-Prot for SLC17A9 Gene

  • Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC17A9 Gene

Genomics for SLC17A9 Gene

Regulatory Elements for SLC17A9 Gene

Genomic Location for SLC17A9 Gene

Start:
62,952,647 bp from pter
End:
62,969,585 bp from pter
Size:
16,939 bases
Orientation:
Plus strand

Genomic View for SLC17A9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC17A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC17A9 Gene

Proteins for SLC17A9 Gene

  • Protein details for SLC17A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYT1-S17A9_HUMAN
    Recommended name:
    Solute carrier family 17 member 9
    Protein Accession:
    Q9BYT1
    Secondary Accessions:
    • B3KTF2
    • Q5W198
    • Q8TB07
    • Q8TBP4
    • Q8TEL5
    • Q9BYT0
    • Q9BYT2

    Protein attributes for SLC17A9 Gene

    Size:
    436 amino acids
    Molecular mass:
    47482 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH25312.1; Type=Erroneous termination; Positions=389; Note=Translated as Leu.; Evidence={ECO:0000305}; Sequence=BAB84933.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC17A9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A9 Gene

Proteomics data for SLC17A9 Gene at MOPED

Post-translational modifications for SLC17A9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC17A9 Gene

No data available for DME Specific Peptides for SLC17A9 Gene

Domains for SLC17A9 Gene

Gene Families for SLC17A9 Gene

Protein Domains for SLC17A9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC17A9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYT1

UniProtKB/Swiss-Prot:

S17A9_HUMAN :
  • Q9BYT1
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
genes like me logo Genes that share domains with SLC17A9: view

Function for SLC17A9 Gene

Molecular function for SLC17A9 Gene

UniProtKB/Swiss-Prot Function: Involved in vesicular storage and exocytosis of ATP. May accumulate ATP and other nucleotides in secretory vesicles such as adrenal chromaffin granules and synaptic vesicles.

Gene Ontology (GO) - Molecular Function for SLC17A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with SLC17A9: view

Phenotypes for SLC17A9 Gene

MGI mutant phenotypes for SLC17A9:
inferred from 1 alleles
GenomeRNAi human phenotypes for SLC17A9:
genes like me logo Genes that share phenotypes with SLC17A9: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC17A9 Gene

Localization for SLC17A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A9 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC17A9 Gene COMPARTMENTS Subcellular localization image for SLC17A9 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SLC17A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC17A9: view

Pathways for SLC17A9 Gene

SuperPathways for SLC17A9 Gene

No Data Available

Interacting Proteins for SLC17A9 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000359376%0d%0a9606.ENSP00000363021%0d%0a9606.ENSP00000285039%0d%0a9606.ENSP00000382177%0d%0a9606.ENSP00000261839%0d%0a
Selected Interacting proteins: ENSP00000359376 for SLC17A9 Gene via STRING

Gene Ontology (GO) - Biological Process for SLC17A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC17A9: view

No data available for Pathways by source for SLC17A9 Gene

Transcripts for SLC17A9 Gene

Unigene Clusters for SLC17A9 Gene

Solute carrier family 17, member 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A9 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6: - -
SP7:
SP8: - - - -
SP9: - -

Relevant External Links for SLC17A9 Gene

GeneLoc Exon Structure for
SLC17A9
ECgene alternative splicing isoforms for
SLC17A9

Expression for SLC17A9 Gene

mRNA expression in normal human tissues for SLC17A9 Gene

mRNA differential expression in normal tissues according to GTEx for SLC17A9 Gene

This gene is overexpressed in Liver (18.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC17A9 Gene

SOURCE GeneReport for Unigene cluster for SLC17A9 Gene Hs.512686

mRNA Expression by UniProt/SwissProt for SLC17A9 Gene

Q9BYT1-S17A9_HUMAN
Tissue specificity: Predominantly expressed in adrenal gland, brain and thyroid.
genes like me logo Genes that share expressions with SLC17A9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SLC17A9 Gene

Orthologs for SLC17A9 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC17A9 35
  • 99.46 (n)
  • 99.54 (a)
SLC17A9 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC17A9 35
  • 87.46 (n)
  • 88.76 (a)
SLC17A9 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC17A9 35
  • 87.84 (n)
  • 89.22 (a)
SLC17A9 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc17a9 35
  • 82.11 (n)
  • 82.57 (a)
Slc17a9 16
Slc17a9 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC17A9 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC17A9 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc17a9 35
  • 82.8 (n)
  • 82.11 (a)
chicken
(Gallus gallus)
Aves gga-mir-6567 36
  • 67 (a)
OneToOne
SLC17A9 35
  • 74.35 (n)
  • 70.05 (a)
lizard
(Anolis carolinensis)
Reptilia SLC17A9 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9220 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496923 35
  • 65.78 (n)
  • 61.59 (a)
zebrafish
(Danio rerio)
Actinopterygii sbcb849 35
slc17a9a 36
  • 45 (a)
OneToMany
slc17a9b 35
  • 64.41 (n)
  • 59.18 (a)
slc17a9b 36
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008942 35
  • 53.17 (n)
  • 41.93 (a)
fruit fly
(Drosophila melanogaster)
Insecta MFS18 35
  • 51.74 (n)
  • 40.19 (a)
MFS18 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea vnut-1 35
  • 48.3 (n)
  • 40.94 (a)
vnut-1 36
  • 36 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for SLC17A9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC17A9 Gene

ENSEMBL:
Gene Tree for SLC17A9 (if available)
TreeFam:
Gene Tree for SLC17A9 (if available)

Paralogs for SLC17A9 Gene

Paralogs for SLC17A9 Gene

Selected SIMAP similar genes for SLC17A9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC17A9: view

Variants for SLC17A9 Gene

Sequence variations from dbSNP and Humsavar for SLC17A9 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs735055 -- 62,954,455(-) GCCCC(C/T)GTGCA intron-variant
rs748030 -- 62,968,606(-) ATAAA(A/G)TAACA downstream-variant-500B
rs752430 -- 62,968,036(+) ACCCA(C/T)CCCTA utr-variant-3-prime
rs910933 -- 62,959,988(+) GCTCA(C/G)TTTAT intron-variant
rs910934 -- 62,960,016(+) CTTTC(C/T)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC17A9 Gene

Variant ID Type Subtype PubMed ID
nsv913073 CNV Loss 21882294
nsv9825 CNV Gain 18304495
nsv913127 CNV Loss 21882294
nsv913128 CNV Loss 21882294
nsv913130 CNV Loss 21882294
dgv4617n71 CNV Loss 21882294
nsv459069 CNV Gain 19166990
dgv4618n71 CNV Loss 21882294
dgv4619n71 CNV Loss 21882294
nsv470559 CNV Loss 18288195
dgv4620n71 CNV Loss 21882294
dgv4621n71 CNV Loss 21882294
dgv4622n71 CNV Loss 21882294
dgv4623n71 CNV Loss 21882294
nsv913145 CNV Loss 21882294
esv2722841 CNV Deletion 23290073
nsv179331 CNV Loss 16902084
nsv459070 CNV Loss 19166990
nsv913146 CNV Loss 21882294
esv1007297 CNV Deletion 20482838
esv2722842 CNV Deletion 23290073
esv1591688 CNV Deletion 17803354
nsv913150 CNV Loss 21882294
esv2722843 CNV Deletion 23290073
esv24663 CNV Loss 19812545
esv1395020 CNV Deletion 17803354

Relevant External Links for SLC17A9 Gene

HapMap Linkage Disequilibrium report
SLC17A9
Human Gene Mutation Database (HGMD)
SLC17A9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC17A9 Gene

Disorders for SLC17A9 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SLC17A9 Gene including...

Search for SLC17A9 Gene in MalaCards »

UniProtKB/Swiss-Prot

S17A9_HUMAN
  • Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. {ECO:0000269 PubMed:25180256}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC17A9

Genetic Association Database (GAD)
SLC17A9
genes like me logo Genes that share disorders with SLC17A9: view

Publications for SLC17A9 Gene

  1. Identification of a vesicular nucleotide transporter. (PMID: 18375752) Sawada K. … Moriyama Y. (Proc. Natl. Acad. Sci. U.S.A. 2008) 2 3 4
  2. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PMID: 12693554) Jikuya H. … Ohara O. (DNA Res. 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4

Products for SLC17A9 Gene

Sources for SLC17A9 Gene

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