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

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 CIViC summary , 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
GH03G169657 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 +922.4 922407 12.4 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B KLF13 PRKCI ENSG00000270096 SLC7A14 ACTRT3 MECOM ENSG00000242795
GH03G170221 1.7 FANTOM5 Ensembl ENCODE 10.1 +362.8 362768 3.4 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZBTB7B YY1 SLC30A9 ZNF766 ENSG00000270096 PRKCI GPR160 SLC7A14 ENSG00000270135 MYNN PHC3 LRRIQ4 GC03P170245
GH03G169944 1.6 Ensembl ENCODE dbSUPER 10 +640.5 640531 2.3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B CBX5 ZNF143 KLF13 LOC100128164 ENSG00000270096 SEC62 LRRC31 GPR160 SAMD7 LRRC34 LRRIQ4 SLC7A14 PRKCI
GH03G170492 1.4 FANTOM5 ENCODE dbSUPER 10.3 +91.3 91329 4.6 ELF3 TBP PKNOX1 FOXA2 CBX3 NFIB ZNF133 DMAP1 YY1 CBX5 SLC7A14 KRT8P13 MIR6828
GH03G170739 1.3 Ensembl ENCODE dbSUPER 10 -155.5 -155462 3.2 CTCF JUN MAX FEZF1 RFX5 FOXK2 ZNF26 RCOR1 FOS PRDM10 SEC62-AS1 SLC7A14 LOC101928583 ENSG00000239739 LOC105374211
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC7A14 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC7A14 Gene

Chromosome:
3
Start:
170,459,554 bp from pter
End:
170,586,074 bp from pter
Size:
126,521 bases
Orientation:
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:
    Q8TBB6-S7A14_HUMAN
    Recommended name:
    Probable cationic amino acid transporter
    Protein Accession:
    Q8TBB6
    Secondary Accessions:
    • B3KV33
    • Q9HCF9

    Protein attributes for SLC7A14 Gene

    Size:
    771 amino acids
    Molecular mass:
    84052 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBB6

UniProtKB/Swiss-Prot:

S7A14_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
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 --
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

Inhibitory RNA Products

Clone 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

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 SLC7A14 gene
Compartment Confidence
plasma membrane 3
lysosome 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: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:0003333 amino acid transmembrane transport IEA --
GO:0006810 transport IEA --
GO:0006865 amino acid transport IEA --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SLC7A14 Gene

GeneLoc Exon Structure for
SLC7A14
ECgene alternative splicing isoforms for
SLC7A14

Expression for SLC7A14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:

SLC7A14

SOURCE GeneReport for Unigene cluster for SLC7A14 Gene:

Hs.596660

mRNA Expression by UniProt/SwissProt for SLC7A14 Gene:

Q8TBB6-S7A14_HUMAN
Tissue specificity: Expressed in skin fibroblasts.

Evidence on tissue expression from TISSUES for SLC7A14 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia SLC7A14 34 35
  • 99.52 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC7A14 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A14 34 35
  • 92.78 (n)
cow
(Bos Taurus)
Mammalia SLC7A14 34 35
  • 92.13 (n)
mouse
(Mus musculus)
Mammalia Slc7a14 34 16 35
  • 90.92 (n)
rat
(Rattus norvegicus)
Mammalia Slc7a14 34
  • 89.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A14 35
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A14 34 35
  • 80.69 (n)
lizard
(Anolis carolinensis)
Reptilia SLC7A14 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a14 34
  • 75.09 (n)
zebrafish
(Danio rerio)
Actinopterygii slc7a14a 35
  • 76 (a)
OneToMany
LOC566270 34
  • 72.66 (n)
slc7a14b 35
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG12531 34 35
  • 54.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001265 34
  • 53.04 (n)
worm
(Caenorhabditis elegans)
Secernentea C50D2.2 35
  • 39 (a)
OneToMany
B0454.6 35
  • 35 (a)
OneToMany
F23F1.6 35
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAT1 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SLC7A14 (if available)
TreeFam:
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
rs181011740 Retinitis pigmentosa 68 (RP68) [MIM:615725] 170,467,288(+) GTAGC(A/G)TTGGT nc-transcript-variant, reference, missense
rs2276717 Pathogenic, Retinitis pigmentosa 68 (RP68) [MIM:615725] 170,483,441(-) CTCAT(A/G)GGTTC intron-variant, reference, missense
rs375705180 Retinitis pigmentosa 68 (RP68) [MIM:615725] 170,481,110(+) ACCCC(A/G)ACACG intron-variant, reference, missense
rs587777272 Pathogenic, Retinitis pigmentosa 68 (RP68) [MIM:615725] 170,467,249(+) GGAGA(A/C)ACCCT upstream-variant-2KB, reference, missense
rs587777273 Pathogenic, Retinitis pigmentosa 68 (RP68) [MIM:615725] 170,501,255(+) AAAAT(A/G)CCACA intron-variant, reference, missense

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)
SLC7A14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A14

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
  • rp68
retinitis pigmentosa
  • retinitis pigmentosa 1
leber optic atrophy
  • leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S7A14_HUMAN
  • 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)
SLC7A14
Human Genome Epidemiology (HuGE) Navigator
SLC7A14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A14
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

Content
Loading form....