Human Gene SLC7A14 (ENST00000231706.6_7) from GENCODE V47lift37
  Description: solute carrier family 7 member 14 (from RefSeq NM_020949.3)
Gencode Transcript: ENST00000231706.6_7
Gencode Gene: ENSG00000013293.6_10
Transcript (Including UTRs)
   Position: hg19 chr3:170,177,336-170,303,864 Size: 126,529 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr3:170,184,843-170,244,725 Size: 59,883 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:170,177,336-170,303,864)mRNA (may differ from genome)Protein (771 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S7A14_HUMAN
DESCRIPTION: RecName: Full=Probable cationic amino acid transporter; AltName: Full=Solute carrier family 7 member 14;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
SEQUENCE CAUTION: Sequence=BAB13439.1; Type=Erroneous termination; Positions=765; Note=Translated as Glu;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC7A14
Diseases sorted by gene-association score: retinitis pigmentosa 68* (1230), slc7a14-related retinitis pigmentosa* (500), retinitis pigmentosa* (56), leber optic atrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.77 RPKM in Pituitary
Total median expression: 20.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.20317-0.285 Picture PostScript Text
3' UTR -2099.007507-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002293 - AA/rel_permease1
IPR015606 - Cat-AATrans

Pfam Domains:
PF00324 - Amino acid permease
PF13520 - Amino acid permease
PF13906 - C-terminus of AA_permease

ModBase Predicted Comparative 3D Structure on Q8TBB6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0022857 transmembrane transporter activity

Biological Process:
GO:0006865 amino acid transport
GO:0010923 negative regulation of phosphatase activity
GO:0055085 transmembrane transport

Cellular Component:
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  JD558750 - Sequence 539774 from Patent EP1572962.
AK122655 - Homo sapiens cDNA FLJ16089 fis, clone NT2RP7009225, highly similar to Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 (SLC7A14), mRNA.
AK094547 - Homo sapiens cDNA FLJ37228 fis, clone BRAMY2000411.
JD504356 - Sequence 485380 from Patent EP1572962.
JD066162 - Sequence 47186 from Patent EP1572962.
JD061111 - Sequence 42135 from Patent EP1572962.
JD267161 - Sequence 248185 from Patent EP1572962.
JD175138 - Sequence 156162 from Patent EP1572962.
JD073375 - Sequence 54399 from Patent EP1572962.
JD494446 - Sequence 475470 from Patent EP1572962.
JD337388 - Sequence 318412 from Patent EP1572962.
JD238444 - Sequence 219468 from Patent EP1572962.
JD135896 - Sequence 116920 from Patent EP1572962.
JD378234 - Sequence 359258 from Patent EP1572962.
JD455080 - Sequence 436104 from Patent EP1572962.
JD283482 - Sequence 264506 from Patent EP1572962.
JD384730 - Sequence 365754 from Patent EP1572962.
JD434291 - Sequence 415315 from Patent EP1572962.
JD283992 - Sequence 265016 from Patent EP1572962.
JD326634 - Sequence 307658 from Patent EP1572962.
JD290194 - Sequence 271218 from Patent EP1572962.
JD114483 - Sequence 95507 from Patent EP1572962.
JD061978 - Sequence 43002 from Patent EP1572962.
JD396186 - Sequence 377210 from Patent EP1572962.
JD519110 - Sequence 500134 from Patent EP1572962.
JD409294 - Sequence 390318 from Patent EP1572962.
JD213174 - Sequence 194198 from Patent EP1572962.
AB046833 - Homo sapiens mRNA for KIAA1613 protein, partial cds.
JD047167 - Sequence 28191 from Patent EP1572962.
JD359732 - Sequence 340756 from Patent EP1572962.
JD514846 - Sequence 495870 from Patent EP1572962.
JD186634 - Sequence 167658 from Patent EP1572962.
JD194573 - Sequence 175597 from Patent EP1572962.
JD091174 - Sequence 72198 from Patent EP1572962.
JD305462 - Sequence 286486 from Patent EP1572962.
JD109939 - Sequence 90963 from Patent EP1572962.
JD186756 - Sequence 167780 from Patent EP1572962.
JD088167 - Sequence 69191 from Patent EP1572962.
JD207077 - Sequence 188101 from Patent EP1572962.
JD299899 - Sequence 280923 from Patent EP1572962.
JD168487 - Sequence 149511 from Patent EP1572962.
JD337364 - Sequence 318388 from Patent EP1572962.
JD062858 - Sequence 43882 from Patent EP1572962.
JD046421 - Sequence 27445 from Patent EP1572962.
JD418961 - Sequence 399985 from Patent EP1572962.
JD477169 - Sequence 458193 from Patent EP1572962.
JD185948 - Sequence 166972 from Patent EP1572962.
JD453832 - Sequence 434856 from Patent EP1572962.
JD068863 - Sequence 49887 from Patent EP1572962.
JD094209 - Sequence 75233 from Patent EP1572962.
JD299527 - Sequence 280551 from Patent EP1572962.
JD188345 - Sequence 169369 from Patent EP1572962.
JD180116 - Sequence 161140 from Patent EP1572962.
BC022968 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 14, mRNA (cDNA clone IMAGE:4180324), partial cds.
JD291296 - Sequence 272320 from Patent EP1572962.
JD126559 - Sequence 107583 from Patent EP1572962.
JD543581 - Sequence 524605 from Patent EP1572962.
KJ903004 - Synthetic construct Homo sapiens clone ccsbBroadEn_12398 SLC7A14 gene, encodes complete protein.
AB587553 - Synthetic construct DNA, clone: pF1KE1072, Homo sapiens SLC7A14 gene for solute carrier family 7 (cationic amino acid transporter, y+ system), member 14, without stop codon, in Flexi system.
AB527087 - Synthetic construct DNA, clone: pF1KSDA1613, Homo sapiens SLC7A14 gene for solute carrier family 7 (cationic amino acid transporter, y+ system), member 14, without stop codon, in Flexi system.
CU692764 - Synthetic construct Homo sapiens gateway clone IMAGE:100020048 5' read SLC7A14 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KV33, ENST00000231706.1, ENST00000231706.2, ENST00000231706.3, ENST00000231706.4, ENST00000231706.5, KIAA1613, NM_020949, Q8TBB6, Q9HCF9, S7A14_HUMAN, SLC7A14 , uc317dux.1, uc317dux.2
UCSC ID: ENST00000231706.6_7
RefSeq Accession: NM_020949.3
Protein: Q8TBB6 (aka S7A14_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC7A14:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.