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SLC3A1 solute carrier family 3 member 1 [ Homo sapiens (human) ]

Gene ID: 6519, updated on 18-Aug-2020

Summary

Official Symbol
SLC3A1provided by HGNC
Official Full Name
solute carrier family 3 member 1provided by HGNC
Primary source
HGNC:HGNC:11025
See related
Ensembl:ENSG00000138079 MIM:104614
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
D2H; ATR1; NBAT; RBAT; CSNU1
Summary
This 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]
Expression
Biased expression in kidney (RPKM 175.5), small intestine (RPKM 50.6) and 6 other tissues See more
Orthologs

Genomic context

See SLC3A1 in Genome Data Viewer
Location:
2p21
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (44275464..44321494)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44502597..44547963)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723904 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1B Neighboring gene ribosomal protein L12 pseudogene 19 Neighboring gene prolyl endopeptidase like Neighboring gene calmodulin-lysine N-methyltransferase Neighboring gene uncharacterized LOC107985878 Neighboring gene VISTA enhancer hs541

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34681

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-cystine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
basic amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-cystine transport TAS
Traceable Author Statement
more info
PubMed 
amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
basic amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
basic amino acid transport TAS
Traceable Author Statement
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
vacuolar membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
neutral and basic amino acid transport protein rBAT
Names
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 (amino acid transporter heavy chain), member 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

NCBI Reference Sequences (RefSeq)

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_008233.1 RefSeqGene

    Range
    5023..51037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000341.4NP_000332.2  neutral and basic amino acid transport protein rBAT

    See identical proteins and their annotated locations for NP_000332.2

    Status: REVIEWED

    Source sequence(s)
    AC013717, AK223146, BC093626
    Consensus CDS
    CCDS1819.1
    UniProtKB/Swiss-Prot
    Q07837
    UniProtKB/TrEMBL
    A0A0S2Z4E1
    Related
    ENSP00000260649.6, ENST00000260649.11
    Conserved Domains (2) summary
    cd11359
    Location:116569
    AmyAc_SLC3A1; Alpha amylase catalytic domain found in Solute Carrier family 3 member 1 proteins
    TIGR02403
    Location:117607
    trehalose_treC; alpha,alpha-phosphotrehalase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    44275464..44321494
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533047.3XP_011531349.1  neutral and basic amino acid transport protein rBAT isoform X1

    UniProtKB/TrEMBL
    B8ZZK1
    Related
    ENSP00000387308.1, ENST00000409387.5
    Conserved Domains (3) summary
    cd11359
    Location:116539
    AmyAc_SLC3A1; Alpha amylase catalytic domain found in Solute Carrier family 3 member 1 proteins
    pfam00128
    Location:140488
    Alpha-amylase; Alpha amylase, catalytic domain
    pfam13900
    Location:543564
    GVQW; Putative domain of unknown function
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