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Aliases for SLC17A9 Gene

Aliases for SLC17A9 Gene

  • Solute Carrier Family 17 Member 9 2 3 5
  • Solute Carrier Family 17 (Vesicular Nucleotide Transporter), Member 9 2 3
  • C20orf59 3 4
  • Vesicular Nucleotide Transporter SLC17A9 3
  • Chromosome 20 Open Reading Frame 59 2
  • Solute Carrier Family 17, Member 9 2
  • 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 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 SLC17A5.

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

Enhancers for SLC17A9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F062935 1.1 ENCODE 12.3 -14.9 -14894 4.7 PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 LINC00029 GMEB2 GID8 LOC105372725 LINC01056 SLC17A9 DIDO1 MIR4758 CABLES2 ENSG00000226332
GH20F062951 1.1 FANTOM5 ENCODE 11.5 +1.5 1503 5.0 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 LINC00029 LOC105372725 LINC01056 MIR647 MIR4758 SLC17A9 DIDO1 CABLES2 MRGBP GC20P062974
GH20F062922 1.2 FANTOM5 ENCODE 8.9 -26.2 -26182 8.5 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DIDO1 SLC17A9 GID8 COL9A3 ENSG00000273759 ARF4P2
GH20F062873 1.3 FANTOM5 Ensembl ENCODE 7.3 -77.1 -77093 4.3 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS DEK DIDO1 SLC17A9 GID8 OGFR-AS1 BHLHE23 TCFL5 ARF4P2 ENSG00000273759
GH20F062958 1.1 Ensembl ENCODE 7.2 +7.7 7702 3.3 PAF1 CTCF KLF1 MAX ZFHX2 POLR2A ZNF341 MYC EGR2 SLC17A9 GC20P062974
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC17A9 on UCSC Golden Path with GeneCards custom track

Promoters for SLC17A9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000404234 753 2401 HDGF PKNOX1 MLX ZFP64 SIN3A ARID4B DMAP1 YBX1 YY1 SLC30A9

Genomic Location for SLC17A9 Gene

Chromosome:
20
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

Genes around SLC17A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for SLC17A9 Gene

Gene Families for SLC17A9 Gene

Protein Domains for SLC17A9 Gene

Suggested Antigen Peptide Sequences for SLC17A9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYT1

UniProtKB/Swiss-Prot:

S17A9_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
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:0022857 transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC17A9: view
genes like me logo Genes that share phenotypes with SLC17A9: view

Human Phenotype Ontology for SLC17A9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC17A9 Gene

MGI Knock Outs for SLC17A9:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC17A9

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
nucleus 2
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC17A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
genes like me logo Genes that share ontologies with SLC17A9: view

Pathways & Interactions for SLC17A9 Gene

SuperPathways for SLC17A9 Gene

No Data Available

Interacting Proteins for SLC17A9 Gene

Gene Ontology (GO) - Biological Process for SLC17A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006820 anion transport IBA --
GO:0006887 exocytosis IEA --
GO:0055085 transmembrane transport IEA,IBA --
GO:1903146 regulation of mitophagy IMP 24912190
genes like me logo Genes that share ontologies with SLC17A9: view

No data available for Pathways by source and SIGNOR curated interactions for SLC17A9 Gene

Transcripts for SLC17A9 Gene

Unigene Clusters for SLC17A9 Gene

Solute carrier family 17, member 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for SLC17A9 Gene

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

This gene is overexpressed in Liver (x18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC17A9 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC17A9 Gene:

SLC17A9

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 expression patterns with SLC17A9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners 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 34 35
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia SLC17A9 34 35
  • 87.84 (n)
cow
(Bos Taurus)
Mammalia SLC17A9 34 35
  • 87.46 (n)
rat
(Rattus norvegicus)
Mammalia Slc17a9 34
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia Slc17a9 34 16 35
  • 82.11 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC17A9 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC17A9 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC17A9 34
  • 74.35 (n)
gga-mir-6567 35
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC17A9 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496923 34
  • 65.78 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9220 34
zebrafish
(Danio rerio)
Actinopterygii slc17a9b 34 35
  • 64.41 (n)
slc17a9a 35
  • 45 (a)
OneToMany
sbcb849 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008942 34
  • 53.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta MFS18 34 35
  • 51.74 (n)
worm
(Caenorhabditis elegans)
Secernentea vnut-1 34 35
  • 48.3 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for SLC17A9 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs548728088 Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063], Pathogenic 62,952,855(+) AGGCC(C/T)GCAGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs606231251 Porokeratosis 8, disseminated superficial actinic type (POROK8) [MIM:616063], Pathogenic 62,965,153(+) GGTGC(A/G)GAAGC nc-transcript-variant, reference, missense
rs1047126 -- 62,968,122(+) AGACA(C/T)GACCT nc-transcript-variant, utr-variant-3-prime
rs1047139 -- 62,968,439(+) TCTGG(C/G)GTTCT nc-transcript-variant, utr-variant-3-prime
rs10690602 -- 62,957,820(+) TGTAT(-/AT)GGGCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7659n54 CNV loss 21841781
esv1007297 CNV deletion 20482838
esv1395020 CNV deletion 17803354
esv1591688 CNV deletion 17803354
esv24663 CNV loss 19812545
esv2722841 CNV deletion 23290073
esv2722842 CNV deletion 23290073
esv2722843 CNV deletion 23290073
esv3557347 CNV deletion 23714750
nsv1125925 CNV deletion 24896259
nsv1131601 CNV deletion 24896259
nsv1133303 CNV tandem duplication 24896259
nsv179331 CNV deletion 16902084
nsv459069 CNV gain 19166990
nsv459070 CNV loss 19166990
nsv470559 CNV loss 18288195
nsv586532 CNV gain 21841781
nsv9825 CNV gain 18304495

Variation tolerance for SLC17A9 Gene

Residual Variation Intolerance Score: 80% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.14; 69.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC17A9 Gene

Human Gene Mutation Database (HGMD)
SLC17A9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A9

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

Disorders for SLC17A9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC17A9 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
porokeratosis 8, disseminated superficial actinic type
  • porok8
porokeratosis
  • disseminated superficial actinic porokeratosis
porokeratosis of mibelli
linear porokeratosis
  • congenital facial linear porokeratosis
punctate porokeratosis
  • pppp
- elite association - COSMIC cancer census association via 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC17A9
genes like me logo Genes that share disorders with SLC17A9: view

No data available for Genatlas for SLC17A9 Gene

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 64
  2. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. (PMID: 25180256) Cui H. … Zhang X. (J. Med. Genet. 2014) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64
  5. 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 64

Products for SLC17A9 Gene

Sources for SLC17A9 Gene

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