Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC15A4 Gene

Aliases for SLC15A4 Gene

  • Solute Carrier Family 15 Member 4 2 3 5
  • Solute Carrier Family 15 (Oligopeptide Transporter), Member 4 2 3
  • Peptide/Histidine Transporter 1 3 4
  • Peptide Transporter 4 3 4
  • HPHT1 3 4
  • PHT1 3 4
  • PTR4 3 4
  • Solute Carrier Family 15, Member 4 2
  • Peptide-Histidine Transporter 4 3
  • FP12591 3

External Ids for SLC15A4 Gene

Previous GeneCards Identifiers for SLC15A4 Gene

  • GC12M129016
  • GC12M127630
  • GC12M127802
  • GC12M129277
  • GC12M126263

Summaries for SLC15A4 Gene

GeneCards Summary for SLC15A4 Gene

SLC15A4 (Solute Carrier Family 15 Member 4) is a Protein Coding gene. Diseases associated with SLC15A4 include Cri-Du-Chat Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. GO annotations related to this gene include transporter activity and L-histidine transmembrane transporter activity. An important paralog of this gene is SLC15A3.

UniProtKB/Swiss-Prot for SLC15A4 Gene

  • Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides.

Additional gene information for SLC15A4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC15A4 Gene

Genomics for SLC15A4 Gene

Regulatory Elements for SLC15A4 Gene

Enhancers for SLC15A4 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
GH12H128808 2 FANTOM5 Ensembl ENCODE dbSUPER 37 +6.9 6915 16 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 GLT1D1 SLC15A4 ENSG00000279500 PIR43248
GH12H128855 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.2 -32.9 -32930 2 HDGF SMARCA5 PKNOX1 TBL1XR1 ZBED1 NR2F1 EBF1 BATF ZNF217 POLR2A GLT1D1 SLC15A4 GC12M128836
GH12H128790 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +28.7 28736 8 HDGF PKNOX1 KLF17 BMI1 FEZF1 BATF ATF7 ETV6 CREM IKZF2 GLT1D1 SLC15A4 ENSG00000279500 GC12P128747
GH12H128828 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.2 -6.4 -6356 2 HDGF PKNOX1 TBL1XR1 BMI1 BATF ATF7 ETV6 RUNX3 IKZF2 CREM GLT1D1 SLC15A4 ENSG00000274695 LOC101929984
GH12H128789 1 Ensembl ENCODE dbSUPER 20.2 +34.4 34415 0 IKZF1 EBF1 IKZF2 SPI1 SLC15A4 GLT1D1 ENSG00000279500 GC12P128747
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC15A4 on UCSC Golden Path with GeneCards custom track

Promoters for SLC15A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000059230 196 2001 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207

Genomic Location for SLC15A4 Gene

Chromosome:
12
Start:
128,793,191 bp from pter
End:
128,823,996 bp from pter
Size:
30,806 bases
Orientation:
Minus strand

Genomic View for SLC15A4 Gene

Genes around SLC15A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC15A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC15A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC15A4 Gene

Proteins for SLC15A4 Gene

  • Protein details for SLC15A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N697-S15A4_HUMAN
    Recommended name:
    Solute carrier family 15 member 4
    Protein Accession:
    Q8N697
    Secondary Accessions:
    • A6H8Y9
    • B3KTK1
    • Q71M34
    • Q7Z5F8
    • Q8TAH0

    Protein attributes for SLC15A4 Gene

    Size:
    577 amino acids
    Molecular mass:
    62034 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI46804.1; Type=Frameshift; Positions=342; Evidence={ECO:0000305}; Sequence=AAK95565.1; Type=Frameshift; Positions=572; Evidence={ECO:0000305}; Sequence=AAQ04807.1; Type=Frameshift; Positions=497; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC15A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC15A4 Gene

Post-translational modifications for SLC15A4 Gene

  • Ubiquitination at isoforms=272 and Lys292
  • Glycosylation at Asn140
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC15A4 Gene

No data available for DME Specific Peptides for SLC15A4 Gene

Domains & Families for SLC15A4 Gene

Gene Families for SLC15A4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC15A4 Gene

Suggested Antigen Peptide Sequences for SLC15A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N697

UniProtKB/Swiss-Prot:

S15A4_HUMAN :
  • Belongs to the PTR2/POT transporter (TC 2.A.17) family.
Family:
  • Belongs to the PTR2/POT transporter (TC 2.A.17) family.
genes like me logo Genes that share domains with SLC15A4: view

Function for SLC15A4 Gene

Molecular function for SLC15A4 Gene

UniProtKB/Swiss-Prot Function:
Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides.

Phenotypes From GWAS Catalog for SLC15A4 Gene

Gene Ontology (GO) - Molecular Function for SLC15A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015293 symporter activity IEA --
GO:0015333 peptide:proton symporter activity TAS --
genes like me logo Genes that share ontologies with SLC15A4: view

Phenotypes for SLC15A4 Gene

genes like me logo Genes that share phenotypes with SLC15A4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC15A4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC15A4 Gene

Localization for SLC15A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC15A4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC15A4 gene
Compartment Confidence
plasma membrane 5
lysosome 5
nucleus 2
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for SLC15A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with SLC15A4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC15A4 Gene

Pathways & Interactions for SLC15A4 Gene

genes like me logo Genes that share pathways with SLC15A4: view

Gene Ontology (GO) - Biological Process for SLC15A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006857 oligopeptide transport IEA --
GO:0015031 protein transport IEA --
GO:0015833 peptide transport IEA --
genes like me logo Genes that share ontologies with SLC15A4: view

No data available for SIGNOR curated interactions for SLC15A4 Gene

Drugs & Compounds for SLC15A4 Gene

(2) Drugs for SLC15A4 Gene - From: DGIdb and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>14</sup>C]histidine Pharma 0
[<sup>3</sup>H]histidine Pharma 0
genes like me logo Genes that share compounds with SLC15A4: view

Transcripts for SLC15A4 Gene

Unigene Clusters for SLC15A4 Gene

Solute carrier family 15, member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC15A4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SLC15A4 Gene

No ASD Table

Relevant External Links for SLC15A4 Gene

GeneLoc Exon Structure for
SLC15A4
ECgene alternative splicing isoforms for
SLC15A4

Expression for SLC15A4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC15A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC15A4 Gene

This gene is overexpressed in Whole Blood (x6.9).

Protein differential expression in normal tissues from HIPED for SLC15A4 Gene

This gene is overexpressed in Liver, secretome (23.4), NK cells (13.8), Monocytes (11.1), and Blymphocyte (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC15A4 Gene



Protein tissue co-expression partners for SLC15A4 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC15A4 Gene:

SLC15A4

SOURCE GeneReport for Unigene cluster for SLC15A4 Gene:

Hs.507260

mRNA Expression by UniProt/SwissProt for SLC15A4 Gene:

Q8N697-S15A4_HUMAN
Tissue specificity: Highly expressed in skeletal muscle. Moderately expressed in kidney, liver, and heart. Weakly expressed in colon and brain. Expressed in low levels throughout the gastrointestinal tract and in Caco-2 cells. Expressed in retinal fragment epithelium (RPE) and neural retina. Expressed in small intestine, stomach, duodenum, jejunum, ileum and colon.

Evidence on tissue expression from TISSUES for SLC15A4 Gene

  • Nervous system(4.7)
  • Spleen(2.4)
genes like me logo Genes that share expression patterns with SLC15A4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC15A4 Gene

Orthologs for SLC15A4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC15A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC15A4 33 34
  • 98.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC15A4 34
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC15A4 33 34
  • 85.8 (n)
dog
(Canis familiaris)
Mammalia SLC15A4 33 34
  • 85.39 (n)
mouse
(Mus musculus)
Mammalia Slc15a4 33 16 34
  • 83.84 (n)
rat
(Rattus norvegicus)
Mammalia Slc15a4 33
  • 83.72 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC15A4 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC15A4 33 34
  • 77.49 (n)
lizard
(Anolis carolinensis)
Reptilia SLC15A4 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc15a4 33
  • 70.48 (n)
Str.1385 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25875 33
zebrafish
(Danio rerio)
Actinopterygii slc15a4 33 34
  • 65.06 (n)
zgc56484 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTR2 34 36
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G62200 33
  • 45.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 11 (a)
OneToMany
Species where no ortholog for SLC15A4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SLC15A4 Gene

ENSEMBL:
Gene Tree for SLC15A4 (if available)
TreeFam:
Gene Tree for SLC15A4 (if available)

Paralogs for SLC15A4 Gene

Paralogs for SLC15A4 Gene

(1) SIMAP similar genes for SLC15A4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC15A4: view

Variants for SLC15A4 Gene

Sequence variations from dbSNP and Humsavar for SLC15A4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000114885 -- 128,808,665(+) TACAC(A/G)TCCTC intron-variant
rs1000205582 -- 128,824,400(+) TTGGT(C/G)TCGAA upstream-variant-2KB
rs1000280389 -- 128,819,899(+) TTAAG(C/T)CAGGC intron-variant
rs1000322572 -- 128,801,228(+) ACTTC(A/G)GCTTT intron-variant
rs1000342730 -- 128,795,712(+) GCAGA(C/T)GTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC15A4 Gene

Variant ID Type Subtype PubMed ID
dgv1576n100 CNV gain 25217958
dgv2963n54 CNV loss 21841781
dgv527e212 CNV loss 25503493
dgv528e212 CNV loss 25503493
esv2573129 CNV insertion 19546169
esv2746668 CNV deletion 23290073
esv2759920 CNV loss 17122850
esv3581993 CNV gain 25503493
esv3631151 CNV gain 21293372
esv3631152 CNV loss 21293372
esv998080 CNV insertion 20482838
nsv1040831 CNV gain 25217958
nsv1051433 CNV gain 25217958
nsv1150324 CNV insertion 26484159
nsv53683 CNV insertion 16902084
nsv560650 CNV gain 21841781
nsv560688 CNV loss 21841781
nsv826541 CNV loss 20364138
nsv832549 CNV loss 17160897

Variation tolerance for SLC15A4 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC15A4 Gene

Human Gene Mutation Database (HGMD)
SLC15A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC15A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC15A4 Gene

Disorders for SLC15A4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC15A4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • 5p deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC15A4

Genetic Association Database (GAD)
SLC15A4
Human Genome Epidemiology (HuGE) Navigator
SLC15A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC15A4
genes like me logo Genes that share disorders with SLC15A4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC15A4 Gene

Publications for SLC15A4 Gene

  1. Human proton/oligopeptide transporter (POT) genes: identification of putative human genes using bioinformatics. (PMID: 11741232) Botka CW … Sadée W (AAPS pharmSci 2000) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population. (PMID: 20516000) He CF … Yang S (Lupus 2010) 3 45 60
  4. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. (PMID: 19838193) Han JW … Zhang XJ (Nature genetics 2009) 3 45 60
  5. Search for type 2 diabetes susceptibility genes on chromosomes 1q, 3q and 12q. (PMID: 18259684) Takeuchi F … Kato N (Journal of human genetics 2008) 3 45 60

Products for SLC15A4 Gene

Sources for SLC15A4 Gene

Content
Loading form....