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Aliases for SLC7A14 Gene

Aliases for SLC7A14 Gene

  • Solute Carrier Family 7 Member 14 2 3 4 5
  • Solute Carrier Family 7, Member 14 2 3
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 14 3
  • Solute Carrier Family 7 (Orphan Transporter), Member 14 3
  • Protein Phosphatase 1, Regulatory Subunit 142 3
  • Regulatory Subunit 142 2
  • Protein Phosphatase 1 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 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 SLC7A3.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC7A14 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SLC7A14 Gene at MOPED

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: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

CRISPR 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: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

Interacting Proteins for SLC7A14 Gene

Gene Ontology (GO) - Biological Process for SLC7A14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015807 L-amino acid transport IBA --
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

Drugs & Compounds for SLC7A14 Gene

No Compound Related Data Available

Transcripts for SLC7A14 Gene

mRNA/cDNA for SLC7A14 Gene

Unigene Clusters for SLC7A14 Gene

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

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 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

SOURCE GeneReport for Unigene cluster for SLC7A14 Gene Hs.596660

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

Protein tissue co-expression partners for SLC7A14 Gene

- Elite partner

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
(Bos Taurus)
Mammalia SLC7A14 35
  • 92.13 (n)
  • 96.5 (a)
SLC7A14 36
  • 96 (a)
(Canis familiaris)
Mammalia SLC7A14 35
  • 92.78 (n)
  • 97.02 (a)
SLC7A14 36
  • 97 (a)
(Mus musculus)
Mammalia Slc7a14 35
  • 90.92 (n)
  • 96.76 (a)
Slc7a14 16
Slc7a14 36
  • 97 (a)
(Pan troglodytes)
Mammalia SLC7A14 35
  • 99.52 (n)
  • 99.61 (a)
SLC7A14 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Slc7a14 35
  • 89.78 (n)
  • 93.92 (a)
(Monodelphis domestica)
Mammalia SLC7A14 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia SLC7A14 36
  • 89 (a)
(Gallus gallus)
Aves SLC7A14 35
  • 80.69 (n)
  • 90 (a)
SLC7A14 36
  • 90 (a)
(Anolis carolinensis)
Reptilia SLC7A14 36
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a14 35
  • 75.09 (n)
  • 84.37 (a)
(Danio rerio)
Actinopterygii LOC566270 35
  • 72.66 (n)
  • 77.84 (a)
slc7a14a 36
  • 76 (a)
slc7a14b 36
  • 70 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001265 35
  • 53.04 (n)
  • 49.54 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12531 35
  • 54.56 (n)
  • 48.76 (a)
CG12531 36
  • 40 (a)
(Caenorhabditis elegans)
Secernentea B0454.6 36
  • 35 (a)
C50D2.2 36
  • 39 (a)
F23F1.6 36
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAT1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
Species with no ortholog for SLC7A14:
  • 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) 170,483,441(-) CTCAT(A/G)GGTTC reference, missense
VAR_071050 Retinitis pigmentosa 68 (RP68)
VAR_071051 -
VAR_071052 -
rs375705180 - 170,481,110(+) ACCCC(A/G)ACACG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855

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)

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

Disorders for SLC7A14 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 68
  • rp68
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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 67
  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
  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
  4. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A. … Bollen M. (Chem. Biol. 2009) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for SLC7A14 Gene

Sources for SLC7A14 Gene