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

Gene ID: 57709, updated on 16-Feb-2017
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; Vega:OTTHUMG00000158941
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]
Orthologs
Location:
3q26.2
Exon count:
8
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (170459554..170586074, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170177342..170303863, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SKI like proto-oncogene Neighboring gene microRNA 6828 Neighboring gene claudin 11 Neighboring gene uncharacterized LOC101928583 Neighboring gene keratin 8 pseudogene 13 Neighboring gene ribosomal protein L28 pseudogene 1 Neighboring gene uncharacterized LOC105374211

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ37228, KIAA1613

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
probable cationic amino acid transporter
Names
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

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.

Genomic

  1. NG_034121.1 RefSeqGene

    Range
    5001..131521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020949.2NP_066000.2  probable cationic amino acid transporter

    See identical proteins and their annotated locations for NP_066000.2

    Status: REVIEWED

    Source sequence(s)
    AB046833, AC008041, AK122655, DA475001, N64525
    Consensus CDS
    CCDS33892.1
    UniProtKB/Swiss-Prot
    Q8TBB6
    Related
    ENSP00000231706, OTTHUMP00000213700, ENST00000231706, OTTHUMT00000352598
    Conserved Domains (2) summary
    TIGR00906
    Location:48677
    2A0303; cationic amino acid transport permease
    pfam13906
    Location:627677
    AA_permease_C; C-terminus of AA_permease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

    Range
    170459554..170586074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    170140494..170267053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175917.2: Suppressed sequence

    Description
    NM_175917.2: This RefSeq was permanently suppressed because it is primarily UTR sequence.
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