SLC7A14 (solute carrier family 7 member 14)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57709 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Solute carrier family 7 member 14 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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SLC7A14 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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PPP1R142 |
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Chromosome
Chromosome number
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3 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q26.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 medi |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | ||||||||||||||||
| UniProt ID | Q8TBB6 | |||||||||||||||
| Protein name | Solute carrier family 7 member 14 (Gamma-aminobutyric acid transporter SLC7A14) | |||||||||||||||
| Protein function | Imports 4-aminobutanoate (GABA) into lysosomes. May act as a GABA sensor that regulates mTORC2-dependent INS signaling and gluconeogenesis. The transport mechanism and substrate selectivity remain to be elucidated. {ECO:0000250|UniProtKB:Q8BXR1} | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in skin fibroblasts. {ECO:0000269|PubMed:22787143}. | |||||||||||||||
| Sequence |
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| Sequence length | 771 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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