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MGP002857

Record overview

MGPD IDMGP002857
Gene ID6519
SpeciesHomo sapiens (Human)
Gene Namesolute carrier family 3 (amino acid transporter heavy chain), member 1
Gene Symbol SLC3A1
SynonymsD2H; ATR1; NBAT; RBAT; CSNU1;
Alternate namesneutral and basic amino acid transport protein rBAT; B(0,+)-type amino acid transport protein; SLC3A1 variant B; SLC3A1 variant C; SLC3A1 variant D; SLC3A1 variant E; SLC3A1 variant F; SLC3A1 variant G; amino acid transporter 1; solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1; solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1; solute carrier family 3 member 1;
Chromosome2
Map Location2p16.3
SummaryThis gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for SLC3A1

Proteins

neutral and basic amino acid transport protein rBAT
Refseq ID:NP_000332
Protein GI:187423904
UniProt ID:Q07837
mRNA ID:NM_000341
Length:685
RefSeq Status:
MAEDKSKRDSIEMSMKGCQTNNGFVHNEDILEQTPDPGSSTDNLKHSTRGILGSQEPDFKGVQPYAGMPKEVLFQFSGQARYRIPREILFWLTVASVLVL
IAATIAIIALSPKCLDWWQEGPMYQIYPRSFKDSNKDGNGDLKGIQDKLDYITALNIKTVWITSFYKSSLKDFRYGVEDFREVDPIFGTMEDFENLVAAI
HDKGLKLIIDFIPNHTSDKHIWFQLSRTRTGKYTDYYIWHDCTHENGKTIPPNNWLSVYGNSSWHFDEVRNQCYFHQFMKEQPDLNFRNPDVQEEIKEIL
RFWLTKGVDGFSLDAVKFLLEAKHLRDEIQVNKTQIPDTVTQYSELYHDFTTTQVGMHDIVRSFRQTMDQYSTEPGRYRFMGTEAYAESIDRTVMYYGLP
FIQEADFPFNNYLSMLDTVSGNSVYEVITSWMENMPEGKWPNWMIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDI
NTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFG
ESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLNILYTSC
 
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