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Aliases for SLC7A14 Gene

Aliases for SLC7A14 Gene

  • Solute Carrier Family 7 Member 14 2 3 4 5
  • Protein Phosphatase 1, Regulatory Subunit 142 2 3
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 14 3
  • Solute Carrier Family 7 (Orphan Transporter), Member 14 3
  • Probable Cationic Amino Acid Transporter 3
  • Solute Carrier Family 7, Member 14 2
  • PPP1R142 3
  • KIAA1613 4

External Ids for SLC7A14 Gene

Previous GeneCards Identifiers for SLC7A14 Gene

  • GC03M171666
  • GC03M170177
  • GC03M167547

Summaries for SLC7A14 Gene

Entrez Gene Summary for SLC7A14 Gene

  • This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]

GeneCards Summary for SLC7A14 Gene

SLC7A14 (Solute Carrier Family 7 Member 14) is a Protein Coding gene. Diseases associated with SLC7A14 include Retinitis Pigmentosa 68 and Slc7a14-Related Retinitis Pigmentosa. GO annotations related to this gene include amino acid transmembrane transporter activity and L-amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A1.

UniProtKB/Swiss-Prot for SLC7A14 Gene

  • May be involved in arginine transport.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A14 Gene

Genomics for SLC7A14 Gene

Regulatory Elements for SLC7A14 Gene

Enhancers for SLC7A14 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
GH03F170614 0.9 Ensembl ENCODE 11.2 -28.8 -28797 0.9 GTF2F1 MXI1 ZNF146 JUN CEBPG RAD21 ZIC2 RFX5 ZFHX2 SCRT2 SLC7A14 GC03M170654
GH03F170621 0.7 Ensembl ENCODE 11.1 -36.7 -36678 1.6 HDAC1 PKNOX1 TAL1 SIN3A RAD21 GATA2 POLR2A FOS BHLHE40 REST SLC7A14 GC03M170654
GH03F170634 0.2 ENCODE 11 -49.0 -48989 0.7 TBL1XR1 ZMYM3 EBF1 RELA POLR2A EED ETV6 CREM MTA2 CBFB SLC7A14 GC03M170654
GH03F170499 1 ENCODE 10.3 +86.3 86278 0.1 ELF3 RAD21 YY1 ZNF143 MIXL1 THAP11 KLF11 CEBPB MIER2 REST SLC7A14 KRT8P13
GH03F170492 1 FANTOM5 Ensembl ENCODE 10.3 +91.3 91329 4.6 ELF3 TBP PKNOX1 CBX3 ZNF133 DMAP1 YY1 CBX5 RCOR1 CREM SLC7A14 KRT8P13 MIR6828
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC7A14 on UCSC Golden Path with GeneCards custom track

Promoters for SLC7A14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001854774 374 601 POLR2A NFIA GLIS1 REST EZH2

Genomic Location for SLC7A14 Gene

170,459,554 bp from pter
170,586,074 bp from pter
126,521 bases
Minus strand

Genomic View for SLC7A14 Gene

Genes around SLC7A14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A14 Gene

Proteins for SLC7A14 Gene

  • Protein details for SLC7A14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable cationic amino acid transporter
    Protein Accession:
    Secondary Accessions:
    • B3KV33
    • Q9HCF9

    Protein attributes for SLC7A14 Gene

    771 amino acids
    Molecular mass:
    84052 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB13439.1; Type=Erroneous termination; Positions=765; Note=Translated as Glu.; Evidence={ECO:0000305};

neXtProt entry for SLC7A14 Gene

Post-translational modifications for SLC7A14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC7A14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC7A14 Gene

Domains & Families for SLC7A14 Gene

Protein Domains for SLC7A14 Gene


Suggested Antigen Peptide Sequences for SLC7A14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
genes like me logo Genes that share domains with SLC7A14: view

Function for SLC7A14 Gene

Molecular function for SLC7A14 Gene

UniProtKB/Swiss-Prot Function:
May be involved in arginine transport.

Gene Ontology (GO) - Molecular Function for SLC7A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IEA --
GO:0015179 L-amino acid transmembrane transporter activity IBA --
GO:0015297 antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC7A14: view

Phenotypes for SLC7A14 Gene

genes like me logo Genes that share phenotypes with SLC7A14: view

Human Phenotype Ontology for SLC7A14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A14

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC7A14 Gene

Localization for SLC7A14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A14 Gene

Lysosome membrane; Multi-pass membrane protein. Note=Exhibits a punctated pattern in the cytoplasm, which partially ovelaps with lysosomes.

Subcellular locations from

Jensen Localization Image for SLC7A14 Gene COMPARTMENTS Subcellular localization image for SLC7A14 gene
Compartment Confidence
lysosome 3
plasma membrane 3
vacuole 3

Gene Ontology (GO) - Cellular Components for SLC7A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC7A14: view

Pathways & Interactions for SLC7A14 Gene

SuperPathways for SLC7A14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC7A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006865 amino acid transport IEA --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0015807 L-amino acid transport IEA --
GO:1902475 L-alpha-amino acid transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC7A14: view

No data available for Pathways by source and SIGNOR curated interactions for SLC7A14 Gene

Transcripts for SLC7A14 Gene

mRNA/cDNA for SLC7A14 Gene

Unigene Clusters for SLC7A14 Gene

Solute carrier family 7 (orphan transporter), member 14:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A14 Gene

No ASD Table

Relevant External Links for SLC7A14 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SLC7A14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC7A14 Gene

mRNA differential expression in normal tissues according to GTEx for SLC7A14 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x9.2), Pituitary (x6.2), Brain - Cerebellar Hemisphere (x5.2), Brain - Hypothalamus (x4.7), and Brain - Substantia nigra (x4.4).

Protein differential expression in normal tissues from HIPED for SLC7A14 Gene

This gene is overexpressed in Retina (36.1) and Frontal cortex (29.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC7A14 Gene

Protein tissue co-expression partners for SLC7A14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC7A14 Gene:


SOURCE GeneReport for Unigene cluster for SLC7A14 Gene:


mRNA Expression by UniProt/SwissProt for SLC7A14 Gene:

Tissue specificity: Expressed in skin fibroblasts.
genes like me logo Genes that share expression patterns with SLC7A14: view

Primer Products

Orthologs for SLC7A14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC7A14 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SLC7A14 34 35
  • 99.52 (n)
(Monodelphis domestica)
Mammalia SLC7A14 35
  • 95 (a)
(Canis familiaris)
Mammalia SLC7A14 34 35
  • 92.78 (n)
(Bos Taurus)
Mammalia SLC7A14 34 35
  • 92.13 (n)
(Mus musculus)
Mammalia Slc7a14 34 16 35
  • 90.92 (n)
(Rattus norvegicus)
Mammalia Slc7a14 34
  • 89.78 (n)
(Ornithorhynchus anatinus)
Mammalia SLC7A14 35
  • 89 (a)
(Gallus gallus)
Aves SLC7A14 34 35
  • 80.69 (n)
(Anolis carolinensis)
Reptilia SLC7A14 35
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a14 34
  • 75.09 (n)
(Danio rerio)
Actinopterygii slc7a14a 35
  • 76 (a)
LOC566270 34
  • 72.66 (n)
slc7a14b 35
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12531 34 35
  • 54.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001265 34
  • 53.04 (n)
(Caenorhabditis elegans)
Secernentea C50D2.2 35
  • 39 (a)
B0454.6 35
  • 35 (a)
F23F1.6 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAT1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
Species where no ortholog for SLC7A14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SLC7A14 Gene

Gene Tree for SLC7A14 (if available)
Gene Tree for SLC7A14 (if available)

Paralogs for SLC7A14 Gene

Paralogs for SLC7A14 Gene

(4) SIMAP similar genes for SLC7A14 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC7A14: view

Variants for SLC7A14 Gene

Sequence variations from dbSNP and Humsavar for SLC7A14 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs2276717 Retinitis pigmentosa 68 (RP68) [MIM:615725], Pathogenic 170,483,441(-) CTCAT(A/G)GGTTC intron-variant, reference, missense
rs587777272 Retinitis pigmentosa 68 (RP68) [MIM:615725], Pathogenic 170,467,249(+) GGAGA(A/C)ACCCT upstream-variant-2KB, reference, missense
rs587777273 Retinitis pigmentosa 68 (RP68) [MIM:615725], Pathogenic 170,501,255(+) AAAAT(A/G)CCACA intron-variant, reference, missense
rs79668755 Retinitis pigmentosa 68 (RP68) [MIM:615725], Pathogenic 170,480,891(+) GAGAA(A/C/G/T)AAGCT intron-variant, reference, missense
rs1008427 -- 170,533,473(-) GAAAG(A/C)TAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC7A14 Gene

Variant ID Type Subtype PubMed ID
nsv1115646 CNV duplication 24896259
nsv7356 OTHER inversion 18451855
nsv967091 CNV duplication 23825009

Variation tolerance for SLC7A14 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.11; 61.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A14 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A14 Gene

Disorders for SLC7A14 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC7A14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 68
  • rp68
slc7a14-related retinitis pigmentosa
  • retinitis pigmentosa 68
retinitis pigmentosa
  • retinitis pigmentosa 1
leber optic atrophy
  • leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards


  • Retinitis pigmentosa 68 (RP68) [MIM:615725]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:24670872}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC7A14

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SLC7A14: view

No data available for Genatlas for SLC7A14 Gene

Publications for SLC7A14 Gene

  1. SLC7A14 linked to autosomal recessive retinitis pigmentosa. (PMID: 24670872) Jin Z.B. … Qu J. (Nat. Commun. 2014) 3 4 64
  2. A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. (PMID: 22787143) Jaenecke I. … Closs E.I. (J. Biol. Chem. 2012) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64

Products for SLC7A14 Gene

Sources for SLC7A14 Gene

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