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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC3A1 Gene

protein-coding GIFtS: 65
GCID: GC02P044414

solute carrier family 3 (cystine, dibasic and neutral amino...

Explore 17 diseases affiliated with
SLC3A1 via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid Transporters, Activator Of Cystine, Dibasic And Neutral Amino Acid Transport), Member 1¹ ²		SLC3A1 Variant B²
NBAT¹ ² ³ ⁵		SLC3A1 Variant C²
RBAT¹ ² ³		SLC3A1 Variant D²
ATR1¹ ² ⁵		SLC3A1 Variant E²
D2H¹ ² ⁵		SLC3A1 Variant F²
CSNU1¹ ²		SLC3A1 Variant G²
B(0,+)-Type Amino Acid Transport Protein² ³		Solute Carrier Family 3 (Cystine, Dibasic And Neutral Amino Acid Transporters), Member 1²
Amino Acid Transporter 1²		D2h³
Neutral And Basic Amino Acid Transport Protein RBAT²

External Ids:	HGNC: 11025¹	Entrez Gene: 6519²	Ensembl: ENSG00000138079⁷	OMIM: 104614⁵	UniProtKB: Q07837³

Export aliases for SLC3A1 gene to outside databases

Previous GC identifers: GC02P044501 GC02P044671 GC02P044477 GC02P044356 GC02P044239

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC3A1:

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)

UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837

Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids

(system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity

reabsorption of cystine in the kidney tubule

Gene Wiki entry for SLC3A1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC3A1 gene promoter:
AML1a CUTL1 HNF-1A MEF-2A POU2F1 POU2F1a HNF-1 aMEF-2 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC3A1 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC3A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC3A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p16.3 Ensembl cytogenetic band: 2p21 HGNC cytogenetic band: 2p16.3

SLC3A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC3A1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P044414: view genomic region (about GC identifiers)

Start:	44,502,597 bp from pter	End:	44,548,633 bp from pter
Size:	46,037 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837 (See protein sequence)

Recommended Name: Neutral and basic amino acid transport protein rBAT

Size: 685 amino acids; 78852 Da

Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC7A9

Subcellular location: Membrane; Single-pass type II membrane protein (Potential)

Secondary accessions: A8K0S1 O00658 Q15295 Q52M92 Q52M94

Explore the universe of human proteins at neXtProt for SLC3A1: NX_Q07837

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q07837

SLC3A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000332.2

ENSEMBL proteins:

ENSP00000260649 ENSP00000387308 ENSP00000387337 ENSP00000386954 ENSP00000386620

ENSP00000386709 ENSP00000391642 ENSP00000386852 ENSP00000386677

Reactome Protein details: Q07837
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	Uscn Proteins for SLC3A1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005774	vacuolar membrane	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IEA	--

SLC3A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC3A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC3A1 for domains About GeneDecksing

5 InterPro domains/families:

IPR015902 Glyco_hydro_13

IPR017853 Glycoside_hydrolase_SF

IPR006589 Glyco_hydro_13_sub_cat_dom

IPR006047 Glyco_hydro_13_cat_dom

IPR013781 Glyco_hydro_catalytic_dom

Graphical View of Domain Structure for InterPro Entry Q07837

ProtoNet protein and cluster: Q07837

1 Blocks protein family: IPB006589 Alpha amylase

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837

Function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids

(system B(0,+)-like activity). May function as an activator of SLC7A9 and be involved in the high-affinity

reabsorption of cystine in the kidney tubule

Genatlas biochemistry entry for SLC3A1:

solute carrier family 3 (cystine/dibasic,neutral aminoacid transport),member 1,expressed (noteworthy) in kidney and

small intestine,heterodimerizing with BO+AT (SLC3A1) located in the brush border of the plasma membrane of epithelial

cells of the proximal straight tubule of the nephron,mediating high affinity y+L-type transporter exchanging cationic

aminoacids and/or neutral aminoacids,sodium independent transport system for cationic and dipolar aminoacids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC3A1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	IEA	--
GO:0015171	amino acid transmembrane transporter activity	TAS	10799513
GO:0015174	basic amino acid transmembrane transporter activity	TAS	8054986
GO:0015184	L-cystine transmembrane transporter activity	TAS	8054986
GO:0043169	cation binding	IEA	--

SLC3A1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SLC3A1:

Increased circadian period len

Animal Models:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc3a1):

adipose tissue	growth/size	homeostasis/metabolism	immune system	renal/urinary system
skeleton

SLC3A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Amino acid and oligopeptide SLC transporters

	Amino acid and oligopeptide SLC transporters	1.00			Transport of inorganic cations/anions and amino acids/oligopeptides	0.52
	Amino acid transport across the plasma membrane	0.63

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Protein digestion and absorption

Protein digestion and absorption

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Reactome Pathways for SLC3A1

	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Amino acid and oligopeptide SLC transporters
	Amino acid transport across the plasma membrane
	Transport of inorganic cations/anions and amino acids/oligopeptides

1 Kegg Pathway (Kegg details for SLC3A1):

Protein digestion and absorption

SLC3A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC3A1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5/23 Interacting proteins for SLC3A1 (Q07837³ ENSP00000260649⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC7A8	Q9UHI5³, ENSP00000320378⁴	I2D: score=1 STRING: ENSP00000320378
MARCH6	O60337³	I2D: score=3
NEDD4L	Q96PU5³	I2D: score=3
PIN1	Q13526³	I2D: score=3
PRPF40A	O75400³	I2D: score=3

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003333	amino acid transmembrane transport	TAS	10799513
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0006520	cellular amino acid metabolic process	TAS	8054986
GO:0006811	ion transport	TAS	--
GO:0006865	amino acid transport	TAS	--

SLC3A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SLC3A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC3A1

2 HMDB Compounds for SLC3A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
L-Cystine	(-)-Cystine (see all 31)	56-89-3	--
Sodium	Sodium (see all 2)	7440-23-5	--

1 DrugBank Compound for SLC3A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Cystine	(-)-Cystine (see all 5)	56-89-3	target	--	17139284 17016423

10/16 Novoseek chemical compound relationships for SLC3A1 gene (see all 16) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystine	93.1	59	12763038 (4), 9830050 (3), 8631857 (3), 18074125 (3) (see all 35)
ornithine	64.7	1	8911353 (1)
arginine	58.9	7	12234930 (2), 8663184 (1), 12763038 (1), 10471498 (1) (see all 6)
lysine	52	1	8911353 (1)
leucine	32.4	2	8663184 (1), 19352062 (1)
n-ethylmaleimide	26.5	5	11042122 (1), 8836138 (1), 10493926 (1)
phenylalanine	17.4	1	7477014 (1)
cysteine	15	2	11042122 (1), 11943479 (1)
deoxyribonucleic acid	13.8	2	11417227 (1), 9768685 (1)
alanine	4.59	4	8825523 (3)

Search CenterWatch for drugs/clinical trials and news about SLC3A1 / SLC31

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC3A1 gene:

NM_000341.3

Unigene Cluster for SLC3A1:

Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1

Hs.112916 [show with all ESTs]

Unigene Representative Sequence: DQ023516

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000260649(uc002rtz.2 uc002ruc.4) ENST00000409387(uc002rub.2)

ENST00000410056(uc002rty.3) ENST00000409741 ENST00000409229(uc002rua.3)

ENST00000409380(uc002rud.4) ENST00000427285 ENST00000409294 ENST00000409740(uc002rue.4)

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Additional cDNA sequence:

AB033549.1 AK091932.1 AK092000.1 AK223146.1 AK289636.1 AK309145.1 AK313157.1 BC022386.1

BC093624.1 BC093626.1 DQ023512.1 DQ023513.1 DQ023514.1 DQ023515.1 DQ023516.1 DQ023517.1

L11696.1 M95548.1

17 DOTS entries:

DT.319926 DT.95075504 DT.95111192 DT.418708 DT.91752711 DT.95214944 DT.100791496 DT.75108190

DT.97809448 DT.100668408 DT.75109248 DT.91752690 DT.91752693 DT.120945884 DT.92336940 DT.100672554

DT.202896

24/70 AceView cDNA sequences (see all 70):

AL709339 AI928029 CB163282 AI748784 L11696 BX100432 CB157211 AI240946

AA954167 BG399771 AI219417 BG426700 AB033549 M95548 BV183410 AL037535

BP382888 NM_000341 CF529284 BP383224 BP383441 BG217972 AA740324 BQ010929

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC3A1 (see all 8) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	^	9a	·	9b	^	10	^	11	^	12
SP1:											-														-								-
SP2:											-														-
SP3:											-
SP4:																									-								-
SP5:

ECgene alternative splicing isoforms for SLC3A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC3A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCTTGGTG

About this image

SLC3A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

9 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Proximal Tubule

Proximal Tubule Cells

Kidney

Loop of Henle

Loop of Henle Cells

Kidney

Proximal Tubule

Proximal Tubule Cells

Kidney

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Kidney

Kidney

Kidney

Kidney

Reproductive System

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Human kidney epithelial cell spheroids (Kidney spheroids for...)

See SLC3A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC3A1

SOURCE GeneReport for Unigene cluster: Hs.112916

UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837

Tissue specificity: Predominantly expressed in the kidney, small intestine and pancreas. Weakly expressed in liver

SABiosciences Expression via Pathway-Focused PCR Array including SLC3A1:

Drug Transporters in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for SLC3A1 gene from 7/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Slc3a1^{1 , 5}	solute carrier family 3, member 1^{1, 5}	81.87(n)¹ 80.56(a)¹		17 (55.17 cM)⁵ 20532¹ NM_009205.2¹ NP_033231.2¹ 85028347⁵
chicken (Gallus gallus)	Aves	SLC3A1¹	solute carrier family 3 (cystine, dibasic and neutral more	66.42(n) 61.26(a)		428569 XM_426125.3 XP_426125.2
lizard (Anolis carolinensis)	Reptilia	SLC3A1⁶	--	61(a)	1 ↔ 1	GL343231.1(2165059-2188335)
zebrafish (Danio rerio)	Actinopterygii	slc3a1¹	solute carrier family 3 (cystine, dibasic and neutral more	57.69(n) 55.32(a)		557757 XM_680877.3 XP_685969.3
fruit fly (Drosophila melanogaster)	Insecta	CG30359³ Mal-B2¹	Maltase B2¹	41(a) (best of 10)³ 48.76(n)¹ 39.62(a)¹		44D1³ 34598¹ NM_164975.3¹ NP_723693.2¹
worm (Caenorhabditis elegans)	Secernentea	F26D10.9³ atgp-2¹	Sugar (and other) transporters³ Protein ATGP-2¹	25(a)³ 44.47(n)¹ 32.63(a)¹		IV(17269498-17272214)³ 175125¹ NM_064642.5¹ NP_497043.2¹
E. coli (Escherichia coli)	Gamma proteobacteria	treC⁶	trehalose-6-P hydrolase	27(a)	1 ↔ 1	Chromosome(4461077-4462732)

ENSEMBL Gene Tree for SLC3A1 (if available)
TreeFam Gene Tree for SLC3A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SLC3A1 gene

SLC3A2²

1 SIMAP similar gene for SLC3A1 using alignment to 12 protein entries: SLC31_HUMAN (see all proteins):

NF2

SLC3A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912691^1,2	C,F	pathogenic	44276448(+)	`GAACAA/C/TGCTTC`	3	K T M	mis¹		2		NA EU	5871
rs61239661^1,2		--	44237337(+)	`TATATC/TGTCCA`	1	--	us2k¹		0	--	--	--	--
rs73924289^1,2	C,	--	44237611(+)	`TAACTC/GCCCAT`	1	--	us2k¹		2		WA	120
rs112060960^1,2		--	44237804(+)	`TTTATG/ATATTG`	1	--	us2k¹		2		CSA WA	119
rs112823124^1,2		--	44237810(+)	`TATTGG/CAGACA`	1	--	us2k¹		1		CSA	2
rs113694105^1,2		--	44238372(+)	`CAGGCG/ATGATC`	1	--	us2k¹		1		CSA	2
rs111802036^1,2		--	44238454(+)	`CTATCC/TATCTG`	1	--	us2k¹		1		CSA	2
rs17425932^1,2	C,F,H,	--	44240774(+)	`AGTAGG/TAATGG`	1	--	int¹		18		NA NS EA	1866
rs60255301^1,2	C,	--	44240779(+)	`GAATGG/CGCTTA`	1	--	int¹		2		WA NA	122
rs112419649^1,2		--	44240814(+)	`GAATTC/ATTGAA`	1	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for SLC3A1 (44502597 - 44548633 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SLC3A1
1 CNV: 8943
1 Inversion: 103345
Human Gene Mutation Database (HGMD): SLC3A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SLC3A1 for disorders           About GeneDecksing

OMIM gene information: 104614
OMIM disorders: 220100
UniProtKB/Swiss-Prot: SLC31_HUMAN, Q07837

Defects in SLC3A1 are a cause of cystinuria (CSNU) [MIM:220100]. An autosomal disorder characterized by

impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the

proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility

causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely,

renal failure

Defects in SLC3A1 are a cause of hypotonia-cystinuria syndrome (HCS) [MIM:606407]. HCS is characterized

generalized hypotonia at birth, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism, failure to

thrive, followed by hyperphagia and rapid weight gain in late childhood

17 diseases for SLC3A1: About MalaCards

cystinuria lysinuric protein intolerance hypotonia-cystinuria syndrome growth hormone deficiency

aminoaciduria hartnup disease metabolic disorders nephrolithiasis

hypertrophic cardiomyopathy erythrocytosis hypotonia cardiomyopathy

nephropathy pneumonia hypertension tuberculosis

mycobacterium tuberculosis

2 diseases from the University of Copenhagen DISEASES database for SLC3A1:

Cystinuria Nephrolithiasis

5 Novoseek disease relationships for SLC3A1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystinuria	99.1	201	10620184 (5), 9186880 (4), 7573036 (4), 16845473 (4) (see all 91)
aminoaciduria	88	3	11396607 (1), 8663357 (1)
nephrolithiasis	79.1	4	9648063 (2), 10810228 (1), 11141402 (1)
lysinuric protein intolerance	69.3	3	15155792 (2), 10990376 (1)
metabolic disorder	17.7	1	16566266 (1)

Genetic Association Database (GAD): SLC3A1
Human Genome Epidemiology (HuGE) Navigator: SLC3A1 (13 documents)

Export disorders for SLC3A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SLC3A1 gene, integrated from 9 sources (see all 164):
(articles sorted by number of sources associating them with SLC3A1)

Utopia: connect your pdf to the dynamic
world of online information

Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. (PubMed id 9186880)^{1, 2, 3, 9} Endsley J.K....George A.L. (1997)
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. (PubMed id 11748844)^{1, 2, 4, 9} Harnevik L....Soederkvist P. (2001)
Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. (PubMed id 8486766)^{1, 2, 3, 9} Lee W.-S.... Hediger M.A. (1993)
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. (PubMed id 14991253)^{1, 4, 9} Schmidt C....Eggermann T. (2004)
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. (PubMed id 12234283)^{1, 2, 9} Botzenhart E.... Eggermann T. (2002)
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. (PubMed id 7568194)^{1, 2, 9} Calonge M.J.... Palacin M. (1995)
Mutations of the basic amino acid transporter gene associated with cystinuria. (PubMed id 7575432)^{1, 2, 9} Miyamoto K.... Takeda E. (1995)
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. (PubMed id 7573036)^{1, 2, 9} Gasparini P.... Zelante L. (1995)
Mutation analysis of SLC7A9 in cystinuria patients in Sweden. (PubMed id 12820697)^{1, 4, 9} Harnevik L.... Soderkvist P. (2003)
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. (PubMed id 12239244)^{1, 4, 9} Dello Strologo L....Rizzoni G. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6519	HGNC: 11025	AceView: SLC3A1	Ensembl:ENSG00000138079	euGenes: HUgn6519
ECgene: SLC3A1	Kegg: 6519	H-InvDB: SLC3A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SLC3A1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC3A1
Cysdb	http://www.cysdb.mcgill.ca/

Intellectual Property for SLC3A1 gene
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Patent Information for SLC3A1 gene:
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GeneCards and IP:
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