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solute carrier family 1 (neutral amino acid transporter), member 5 OKDB#: 2422
 Symbols: SLC1A5 Species: human
 Synonyms: R16, AAAT, ATBO, M7V1, RDRC, ASCT2, M7VS1,NEUTRAL AMINO ACID TRANSPORTER-LIKE PROTEIN|BABOON M7 VIRUS RECEPTOR, M7V1, M7VS1|RD114 VIRUS RECEPTOR, RDRC|RD114 SENSITIVITY  Locus: 19q13.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
General function Channel/transport protein
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment Syncytin-1 and its receptor is present in human gametes. Bjerregaard B 2014 et al. MAIN PURPOSE AND RESEARCH QUESTION To determine whether the true fusogen Syncytin-1 and its receptor (ASCT-2) is present in human gametes using qRT-PCR, immunoblotting and immunofluorescence. METHODS Donated oocytes and spermatozoa, originating from a fertility center in tertiary referral university hospital, underwent qRT-PCR, immunoblotting and immunofluorescence analyzes. RESULTS Quantitative RT-PCR of sperm samples from sperm donors showed that syncytin-1 is present in all samples, however, protein levels varied between donors. Syncytin-1 immunoreactivity predominates in the sperm head and around the equatorial segment. The receptor ASCT-2 is expressed in the acrosomal region and in the sperm tail. Moreover, ASCT-2, but not syncytin-1, is expressed in oocytes and the mRNA level increases with increasing maturity of the oocytes. CONCLUSIONS Syncytin and its receptor are present in human gametes and localization and temporal appearance is consistent with a possible role in fusion between oocyte and sperm. /////////////////////////
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Biodistribution of the RD114/mammalian type D retrovirus receptor, RDR Green BJ, et al . The limited expression of viral receptors on target cells is a recognized barrier to therapeutic gene transfer. Previous analysis of receptor expression has been performed using indirect methods due to a lack of receptor-specific antibodies. In this report the authors have used anti-RDR antiserum to provide direct histochemical and flow cytometric analysis of the expression of RDR, which is the cognate receptor for RD114-pseudotyped vectors as well as being a neutral amino acid transporter. RDR was present on a range of normal tissues with relevance to gene therapy including: colon, testis, ovary, bone marrow and skeletal muscle. Of relevance to possible germline gene transfer, there is a lack of RDR expression on male or female germ cells.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: March 24, 2004, 10:42 a.m. by: hsueh   email:
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last update: April 9, 2014, 11:26 a.m. by: hsueh    email:



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