Aliases for SLC15A4 Gene

Aliases for SLC15A4 Gene

  • Solute Carrier Family 15 Member 4 2 3 4 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 Hyperinsulinemic Hypoglycemia, Familial, 3 and Systemic Lupus Erythematosus. Among its related pathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for SLC15A4 Gene

Genomics for SLC15A4 Gene

GeneHancer (GH) Regulatory Elements for SLC15A4 Gene

Promoters and enhancers for SLC15A4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J128808 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 537 +6.9 6915 16.4 ZBTB40 CTCF TCF12 SIN3A USF1 POLR2G SP1 PHF8 ZFX ZNF10 SLC15A4 GLT1D1 ENSG00000279500 piR-32249 lnc-TMEM132D-4 lnc-TMEM132D-5
GH12J128790 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +28.7 28736 8.8 ZBTB40 TEAD4 CTCF EP300 ZIC2 ZNF423 CUX1 POLR2A RBM25 BCL11A GLT1D1 SLC15A4 lnc-TMEM132D-5 ENSG00000279500 lnc-SLC15A4-16
GH12J128855 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 24.2 -32.8 -32849 2.1 MEF2C BCL11A MEF2B SPI1 SMARCA5 WRNIP1 BATF EBF1 POLR2A NR2F1 GLT1D1 SLC15A4 piR-38051-081
GH12J128828 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 17.3 -6.4 -6355 2.7 ZBTB40 SP1 EP300 JUND RELA MEF2C RCOR1 TRIM22 NFYB BCL11A GLT1D1 SLC15A4 ENSG00000274695 piR-60678
GH12J128789 Enhancer 0.8 Ensembl ENCODE dbSUPER 20.5 +34.8 34795 3.2 ZNF384 SPI1 IKZF1 HLF IKZF2 EBF1 RELB POLR2A SLC15A4 GLT1D1 ENSG00000279500 lnc-TMEM132D-5 lnc-SLC15A4-16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC15A4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC15A4

Top Transcription factor binding sites by QIAGEN in the SLC15A4 gene promoter:
  • aMEF-2
  • AP-4
  • E2F
  • E2F-1
  • E2F-2
  • MEF-2A
  • NCX
  • p53
  • Pax-5

Genomic Locations for SLC15A4 Gene

Genomic Locations for SLC15A4 Gene
chr12:128,793,194-128,823,996
(GRCh38/hg38)
Size:
30,803 bases
Orientation:
Minus strand
chr12:129,277,739-129,308,541
(GRCh37/hg19)
Size:
30,803 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; Evidence={ECO:0000305}; Sequence=AAK95565.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAQ04807.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC15A4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC15A4 Gene

Post-translational modifications for SLC15A4 Gene

  • Glycosylation at Asn140
  • Ubiquitination at Lys272 and Lys292
  • 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

Protein Domains for SLC15A4 Gene

Blocks:
  • TGF-beta receptor, type I/II extracellular region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC15A4 Gene

GenScript: Design optimal peptide antigens:
  • Peptide/histidine transporter 1 (S15A4_HUMAN)

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:0005290 L-histidine transmembrane transporter activity IBA 21873635
GO:0005515 protein binding IPI 24695226
GO:0015293 symporter activity IEA --
GO:0015333 peptide:proton symporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC15A4: view
genes like me logo Genes that share phenotypes with SLC15A4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC15A4

Clone Products

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 4
nucleus 2
endosome 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,IEA 21873635
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with SLC15A4: view

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:0006811 ion transport TAS --
GO:0006857 oligopeptide transport IEA --
GO:0015031 protein transport IEA --
GO:0015817 histidine transport IBA 21873635
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

mRNA/cDNA for SLC15A4 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC15A4

Clone Products

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

No ASD Table

Relevant External Links for SLC15A4 Gene

GeneLoc Exon Structure for
SLC15A4

Expression for SLC15A4 Gene

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



Protein tissue co-expression partners for SLC15A4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 98.79 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC15A4 31
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC15A4 31 30
  • 85.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC15A4 31 30
  • 85.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc15a4 17 31 30
  • 83.84 (n)
rat
(Rattus norvegicus)
Mammalia Slc15a4 30
  • 83.72 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC15A4 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC15A4 31 30
  • 77.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC15A4 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc15a4 30
  • 70.48 (n)
Str.1385 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25875 30
zebrafish
(Danio rerio)
Actinopterygii slc15a4 31 30
  • 65.06 (n)
OneToOne
zgc56484 30
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PTR2 33 31
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G62200 30
  • 45.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC15A4: view image

Paralogs for SLC15A4 Gene

Paralogs for SLC15A4 Gene

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

  • S15A4_HUMAN
  • B6ZDF2_HUMAN
  • F5GZQ7_HUMAN
  • H7BYB7_HUMAN
genes like me logo Genes that share paralogs with SLC15A4: view

Variants for SLC15A4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC15A4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs33990080 - p.Val239Ala

Additional dbSNP identifiers (rs#s) for SLC15A4 Gene

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)

Additional Variant Information 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

(2) MalaCards diseases for SLC15A4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperinsulinemic hypoglycemia, familial, 3
  • persistent hyperinsulinemic hypoglycemia of infancy
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC15A4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 41 54
  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 41 54
  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 41 54
  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 41 54

Products for SLC15A4 Gene

Sources for SLC15A4 Gene