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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SLC7A7 Gene

protein-coding GIFtS: 63
GCID: GC14M023242

solute carrier family 7 (amino acid transporter light chain,...

(Previous symbol: LPI)

Explore 15 diseases affiliated with
SLC7A7 via

MalaCards

our new
Human Malady Compendium

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Y+L System), Member 7¹ ²		Y(+)L-Type Amino Acid Transporter 1² ³
Y+LAT-1¹		LAT3²
LPI¹ ² ⁵		Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 7²
Monocyte Amino Acid Permease 2² ³		Y+L Amino Acid Transporter 1²
MOP-2² ³		Solute Carrier Family 7 Member 7³
Y+LAT1² ³

External Ids:	HGNC: 11065¹	Entrez Gene: 9056²	Ensembl: ENSG00000155465⁷	OMIM: 603593⁵	UniProtKB: Q9UM01³

ORGUL members:
	NONCODE:n411673

Export aliases for SLC7A7 gene to outside databases

Previous GC identifers: GC14M020614 GC14M017029 GC14M021232 GC14M022312 GC14M003359

(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 SLC7A7:

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent

transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein

SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino

acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance

(LPI). Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2011)

UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01

Function: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral

amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a

role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine.

Involved in the transport of L-arginine in monocytes

Gene Wiki entry for SLC7A7

(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_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SLC7A7 gene promoter:
AP-2alpha isoform 3 ATF-2 AP-2alpha isoform 2 E47 AP-2alpha isoform 4 c-Jun AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC7A7 promoter sequence

Search SABiosciences Chromatin IP Primers for SLC7A7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC7A7

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

Entrez Gene cytogenetic band: 14q11.2 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

SLC7A7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC7A7 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M023242: view genomic region (about GC identifiers)

Start:	23,242,431 bp from pter	End:	23,299,029 bp from pter
Size:	56,599 bases	Orientation:	minus 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: YLAT1_HUMAN, Q9UM01 (See protein sequence)

Recommended Name: Y+L amino acid transporter 1

Size: 511 amino acids; 55991 Da

Subunit: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc

Subcellular location: Basolateral cell membrane; Multi-pass membrane protein

Sequence caution: Sequence=BAA95120.1; Type=Erroneous gene model prediction; Sequence=CAD62619.1; Type=Erroneous

initiation;

Secondary accessions: B2RAU0 D3DS26 O95984 Q53XC1 Q86U07 Q9P2V5

Explore the universe of human proteins at neXtProt for SLC7A7: NX_Q9UM01

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UM01

SLC7A7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001119577.1 NP_001119578.1

ENSEMBL proteins:

ENSP00000285850 ENSP00000451881 ENSP00000380666 ENSP00000450715 ENSP00000380663

ENSP00000380662 ENSP00000452083 ENSP00000451026 ENSP00000450671 ENSP00000421554

ENSP00000451983 ENSP00000450495 ENSP00000452551 ENSP00000450729 ENSP00000451063

ENSP00000452256

Reactome Protein details: Q9UM01
Human Recombinant Protein Products for SLC7A7:

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	Uscn Proteins for SLC7A7

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9829974
GO:0016021	integral to membrane	--	--
GO:0016323	basolateral plasma membrane	IEA	--

SLC7A7 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SLC7A7

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

SLC7A7 for domains About GeneDecksing

1 InterPro domain/family:

IPR002293 AA/rel_permease1

Graphical View of Domain Structure for InterPro Entry Q9UM01

ProtoNet protein and cluster: Q9UM01

UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01

Similarity: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC

2.A.3.8) family

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: YLAT1_HUMAN, Q9UM01

Function: Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral

amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Plays a

role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine.

Involved in the transport of L-arginine in monocytes

Enzyme regulation: Arginine transport is inhibited by protein kinase C (PKC) and treatment with

phorbol-12-myristate-13-acetate (PMA)

Biophysicochemical properties: Kinetic parameters: KM=31.7 uM for L-leucine (in the presence of 0.1 M NaCl); KM=16.2 uM

for L-leucine (in the presence of 0.1 M LiCl);

Induction: Expression is stimulated and enhanced by IFNG/IFN-gamma

Genatlas biochemistry entry for SLC7A7:

solute carrier family 7,member 7,expressed in kidney,peripheral leukocytes,lung,placenta,spleen,small

intestine,heterodimerizing with the heavy chain 4F2hc,CD98 to form a complex of approximatly 135kDa,mediating y+L-type

transporter exchanging cationic aminoacids and/or neutral aminoacids together with sodium glycoprotein associated

aminoacid transporter family

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015171	amino acid transmembrane transporter activity	IEA	--

SLC7A7 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SLC7A7:

Decreased viability of wild-ty

12 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc7a7):

behavior/neurological	embryogenesis	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	mortality/aging	muscle	renal/urinary system
reproductive system	skeleton

SLC7A7 for phenotypes About GeneDecksing

Animal Models:

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		hsa-miR-22 hsa-miR-548p hsa-miR-593 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-127-5p
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A7

(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 - 5/6 super-pathways (see all 6) 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

Basigin interactions

Basigin interactions

1.00

Protein digestion and absorption

Protein digestion and absorption

1.00

Cell surface interactions at the vascular wall

Cell surface interactions at the vascular wall

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/8 Reactome Pathways for SLC7A7 (see all 8)

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

1 Kegg Pathway (Kegg details for SLC7A7):

Protein digestion and absorption

SLC7A7 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SLC7A7

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for SLC7A7 (Q9UM01³ ENSP00000285850⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLC3A2	P08195³, ENSP00000367124⁴	I2D: score=2 STRING: ENSP00000367124

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:0006461	protein complex assembly	TAS	9829974
GO:0006520	cellular amino acid metabolic process	TAS	9829974
GO:0006810	transport	TAS	9829974
GO:0006811	ion transport	TAS	--
GO:0006865	amino acid transport	TAS	--

SLC7A7 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

SLC7A7 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC7A7

2 HMDB Compounds for SLC7A7 About this table

Compound	Synonyms	CAS #	PubMed Ids
L-Arginine	(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)	74-79-3	--
Sodium	Sodium (see all 2)	7440-23-5	--

3 Novoseek chemical compound relationships for SLC7A7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arginine	48.7	2	11544277 (1), 9887380 (1)
ornithine	40.6	1	9887380 (1)
lysine	26.6	1	9887380 (1)

Search CenterWatch for drugs/clinical trials and news about SLC7A7 / YLAT1

(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, Sirion Biotech, 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 SLC7A7 gene (3 alternative transcripts):

NM_001126105.2 NM_001126106.2 NM_003982.3

Unigene Cluster for SLC7A7:

Solute carrier family 7 (amino acid transporter light chain, y+L system), member 7

Hs.513147 [show with all ESTs]

Unigene Representative Sequence: AB209591

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000285850(uc001wgr.4) ENST00000555702(uc001wgu.4 uc001wgv.4)

ENST00000397532 ENST00000556287(uc001wgt.4) ENST00000397529 ENST00000397528(uc001wgs.4)

ENST00000554061 ENST00000555678 ENST00000554517 ENST00000556350 ENST00000554758

ENST00000488800 ENST00000555251 ENST00000557629 ENST00000555911 ENST00000557129

ENST00000554741 ENST00000555959

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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC7A7:
		hsa-miR-22 hsa-miR-548p hsa-miR-593 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-127-5p
		SwitchGear 3'UTR luciferase reporter plasmid: SLC7A7 3' UTR sequence

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Additional cDNA sequence:

AB011263.1 AB020532.1 AB209591.1 AF092032.1 AJ130718.1 AK025377.1 AK301219.1 AK309128.1

AK314351.1 AL365450.1 AL365451.1 AL365452.1 BC003062.2 BC010107.2 BX161519.1 BX248291.1

NR_040448.1 Y18474.2

17 DOTS entries:

DT.85105429 DT.100818641 DT.91915159 DT.100659356 DT.120778067 DT.92431782 DT.100696601 DT.100833709

DT.95273449 DT.100639930 DT.100818643 DT.100844295 DT.40108093 DT.92431783 DT.100818644 DT.101961563

DT.120778045

24/174 AceView cDNA sequences (see all 174):

AA400789 AA974005 BX326155 BC003062 CR605487 AI244502 AA479330 CR626419

BX420546 BX248291 BX336925 BC010107 AI682580 AI424501 CB989334 AI216438

BX281404 AI361509 BX161519 BX432594 CR601579 CR613648 AW291861 CR617040

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A7 (see all 10) About this scheme

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

ECgene alternative splicing isoforms for SLC7A7

(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

SLC7A7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAACTATCAC

About this image

SLC7A7 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Proximal Tubule

Proximal Tubule Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Primitive gut tube-like cells (A scalable, suspensi...)

See SLC7A7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC7A7

SOURCE GeneReport for Unigene cluster: Hs.513147

UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01

Tissue specificity: Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in

lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI

patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell lines,

with highest expression in a colon-carcinoma cell line

SABiosciences Expression via Pathway-Focused PCR Array including SLC7A7:

Drug Transporters in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC7A7

(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 SLC7A7 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SLC7A7¹	solute carrier family 7 (amino acid transporter light more	65.69(n) 67.23(a)		420216 XM_418326.3 XP_418326.3
lizard (Anolis carolinensis)	Reptilia	SLC7A7⁶	--	75(a)	1 ↔ 1	GL343491.1(548382-563432)
tropical clawed frog (Xenopus tropicalis)	Amphibia	MGC75794²	hypothetical protein MGC75794	77.52(n)		BC063340.1
zebrafish (Danio rerio)	Actinopterygii	slc7a7¹	solute carrier family 7 (cationic amino acid transporter, more	70.71(n) 76.34(a)		641560 NM_001037559.1 NP_001032648.1
fruit fly (Drosophila melanogaster)	Insecta	mnd^{1 , 3}	amino acid transporter³ minidiscs¹	52(a) (best of 3)³ 56.17(n)¹ 52.77(a)¹		39625¹ NM_168601.2¹ NP_730006.1¹
worm (Caenorhabditis elegans)	Secernentea	F27C8.1³ aat-2¹	integral membrane protein E16 like³ Protein AAT-2¹	44(a) (best of 10)³ 52.55(n)¹ 48.56(a)¹		IV(9599614-9601874)³ 184126¹ NM_072993.4¹ NP_505394.2¹
E. coli (Escherichia coli)	Gamma proteobacteria	frlA⁶	predicted fructoselysine transporter	23(a)	1 → many	Chromosome(3497932-3499269)

ENSEMBL Gene Tree for SLC7A7 (if available)
TreeFam Gene Tree for SLC7A7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for SLC7A7 gene

SLC7A6² SLC7A4² SLC7A9² SLC7A14² SLC7A3² SLC7A10² SLC7A13² SLC7A11²

SLC7A8² SLC7A2² SLC7A1² SLC7A5²

14 SIMAP similar genes for SLC7A7 using alignment to 12 protein entries: YLAT1_HUMAN (see all proteins):

SLC7A6 DKFZp686K14185 xCT SLC7A5 SLC7A5P2 SLC7A5P1

hxCT lat1 SLC7A10 SLC7A11 SLC7A9 SLC7A8

SLC7A1 SLC7A13

SLC7A7 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SLC7A7
PGOHUM00000249741

(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 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs72552272^1,2	C,F	pathogenic	3362079(-)	`TAGGCT/GTTYCT`	5	/R /L	mis¹		5		MN	1116
rs78145814^1,2	C	--	3359669(+)	`ATACTT/GTCAAG`	3	--	int¹		3		CSA WA	121
rs79009088^1,2	F	--	3360329(+)	`GAACTC/TAGTGT`	3	--	int¹		1		WA	118
rs11568426^1,2	C,F,H	--	3360420(-)	`TTTTGC/ACTTTT`	3	--	int¹		11		NS EA CSA	946
rs11568427^1,2	C,H	--	3360673(-)	`AGTTAT/CGTTTC`	3	--	int¹		5		NS EA	444
rs113455952^1,2		--	3360728(+)	`TCCCAT/GAAGGA`	3	--	int¹		2		CSA WA	120
rs77493736^1,2		--	3361350(+)	`TCTTAT/CCTCCT`	3	--	int¹		1		NA	120
rs73586419^1,2	C	--	3361484(+)	`ATTAGG/AGATAC`	3	--	int¹		2		WA	120
rs72681911^1,2		--	3361506(+)	`TAAAAA/CCCATA`	3	--	int¹		0	--	--	--	--
rs79935023^1,2		--	3361631(+)	`TTTAAG/CACACA`	3	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for SLC7A7 (23242431 - 23299029 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SLC7A7
2 CNVs: 58660 49325
Human Gene Mutation Database (HGMD): SLC7A7

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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.)
About This Section

SLC7A7 for disorders           About GeneDecksing

OMIM gene information: 603593
OMIM disorders: 222700
UniProtKB/Swiss-Prot: YLAT1_HUMAN, Q9UM01

Defects in SLC7A7 are the cause of lysinuric protein intolerance (LPI) [MIM:222700]. LPI is an autosomal

recessive multisystem disorder found mainly in Finland and Italy. On a normal diet, LPI patients present poor feeding,

vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a

life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by a

defect in the plasma membrane transport of dibasic amino acids

15 diseases for SLC7A7: About MalaCards

lysinuric protein intolerance pulmonary alveolar proteinosis growth hormone deficiency iron overload

cystinuria aminoaciduria monocytic leukemia osteoporosis

fanconi syndrome diarrhea colon carcinoma ovarian cancer

leukemia retinitis carcinoma

1 disease from the University of Copenhagen DISEASES database for SLC7A7:

Pulmonary alveolar proteinosis

5 Novoseek disease relationships for SLC7A7 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lysinuric protein intolerance	98.9	27	10631139 (2), 9199570 (2), 17196863 (2), 12402335 (2) (see all 20)
hyperammonemia	70.8	3	9199570 (1), 17376816 (1)
cystinuria	63	3	11377971 (1), 10990376 (1)
osteoporosis	44	2	17376816 (1)
growth retardation	27.9	2	17376816 (1)

GeneTests: SLC7A7

Lysinuric Protein Intolerance

Human Genome Epidemiology (HuGE) Navigator: SLC7A7 (2 documents)

Export disorders for SLC7A7 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 SLC7A7 gene, integrated from 9 sources (see all 54):
(articles sorted by number of sources associating them with SLC7A7)

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

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (PubMed id 9829974)^{1, 2, 3, 9} Torrents D.... Palacin M. (1998)
Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. (PubMed id 12402335)^{1, 2, 9} Shoji Y.... Takada G. (2002)
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. (PubMed id 17764084)^{1, 2, 9} Sperandeo M.P.... Sebastio G. (2008)
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. (PubMed id 15756301)^{1, 2, 9} Sperandeo M.P.... Sebastio G. (2005)
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. (PubMed id 15776427)^{1, 2, 9} Sperandeo M.P.... Sebastio G. (2005)
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. (PubMed id 10737982)^{1, 2, 9} Noguchi A.... Takada G. (2000)
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. (PubMed id 10080183)^{1, 2, 9} Borsani G....Sebastio G. (1999)
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. (PubMed id 10631139)^{1, 2, 9} Sperandeo M.P.... Borsani G. (2000)
Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). (PubMed id 10655553)^{1, 2, 9} Mykkaenen J.... Aula P. (2000)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(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)
About This Section

Entrez Gene: 9056	HGNC: 11065	AceView: SLC7A7	Ensembl:ENSG00000155465	euGenes: HUgn9056
ECgene: SLC7A7	Kegg: 9056	H-InvDB: SLC7A7

(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)
About This Section

Name	Description
PharmGKB entry for SLC7A7	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC7A7

Intellectual Property for SLC7A7 gene
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Patent Information for SLC7A7 gene:
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GeneCards and IP:
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