SLC7A14 solute carrier family 7 member 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC7A14provided by HGNC
Official Full Name: solute carrier family 7 member 14provided by HGNC
Primary source: HGNC:HGNC:29326
See related: Ensembl:ENSG00000013293 MIM:615720; AllianceGenome:HGNC:29326
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PPP1R142
Summary: 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]
Expression: Biased expression in brain (RPKM 21.6) and adrenal (RPKM 2.0) See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (170459548..170586075, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (173243852..173370405, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (170177336..170303864, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Title: Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
We applied Targeted exome sequencing to the molecular diagnosis of patients with inherited retinal dystrophy and for the first time identified SLC7A14 mutations in two unrelated families with retinitis pigmentosa and Leber congenital amaurosis separately.
Title: Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.
The four SLC7A14 mutations detected herein were unlikely to be pathogenic in this Japanese cohort. The frequency and pathogenicity of SLC7A14 mutations may vary depending on ethnicity, and these mutations may be rare in Japanese patients.
Title: Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.
Data suggests that cationic transporter SLC7A14 has an important role in retinal development and visual function.
Title: SLC7A14 linked to autosomal recessive retinitis pigmentosa.
A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport.
Title: A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 68 MedGen: C3810380 OMIM: 615725 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-105847 (e-PCR)
- UniSTS:169479

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-144148 (e-PCR)
- UniSTS:174136

RH123089 (e-PCR)
- UniSTS:138069

D3S1564 (e-PCR), detects polymorphism
- UniSTS:58718

D15S1477 (e-PCR)
- UniSTS:474482

RH78995 (e-PCR)
- UniSTS:73616

D3S3723 (e-PCR), detects polymorphism
- UniSTS:69834

D3S1564 (e-PCR), detects polymorphism
- UniSTS:72923

SHGC-142944 (e-PCR)
- UniSTS:171748

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-aminobutyric acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid import	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: solute carrier family 7 member 14

Names: gamma-aminobutyric acid transporter SLC7A14; probable cationic amino acid transporter; protein phosphatase 1, regulatory subunit 142; solute carrier family 7 (cationic amino acid transporter, y+ system), member 14; solute carrier family 7 (orphan transporter), member 14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.