Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9056
Gene name	Solute carrier family 7 member 7
Gene symbol	SLC7A7
Synonyms (NCBI Gene)	LAT3LPIMOP-2Y+LAT1y+LAT-1
Chromosome	14
Chromosome location	14q11.2
Summary	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 transpo

Show/Hide all (48)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11568437	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs72552272	A>C	Pathogenic	Coding sequence variant, missense variant
rs121908676	T>G	Pathogenic	Missense variant, initiator codon variant
rs121908677	C>A	Pathogenic	Missense variant, coding sequence variant
rs121908678	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121908679	C>T	Pathogenic	Stop gained, coding sequence variant
rs146582474	T>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs386833792	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833793	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833794	GAAA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833796	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs386833797	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833798	->TAGTT	Likely-pathogenic	Coding sequence variant, stop gained
rs386833799	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833800	AAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833801	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833802	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833803	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833804	G>C,T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833805	->TGAT	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833806	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833807	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs386833808	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs386833809	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833810	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833811	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs386833812	GAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833813	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833814	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833815	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833816	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833817	C>T	Likely-pathogenic	Splice donor variant
rs386833818	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833819	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833820	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833821	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386833822	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs386833823	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833824	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833825	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833826	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833827	C>A	Likely-pathogenic	Splice donor variant
rs386833828	C>A	Likely-pathogenic	Splice donor variant
rs386833829	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs771254387	G>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant
rs1290445670	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555320639	A>-	Pathogenic	Splice donor variant
rs1594944871	TCT>AATGG	Pathogenic	Splice acceptor variant, coding sequence variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT531292	hsa-miR-5586-5p	PAR-CLIP	22012620
MIRT531291	hsa-miR-3065-3p	PAR-CLIP	22012620
MIRT531290	hsa-miR-4530	PAR-CLIP	22012620
MIRT531289	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT531288	hsa-miR-4679	PAR-CLIP	22012620
MIRT531287	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT531286	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531285	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531284	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531283	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531282	hsa-miR-5701	PAR-CLIP	22012620
MIRT531281	hsa-miR-196a-5p	PAR-CLIP	22012620
MIRT531292	hsa-miR-5586-5p	PAR-CLIP	22012620
MIRT531291	hsa-miR-3065-3p	PAR-CLIP	22012620
MIRT531290	hsa-miR-4530	PAR-CLIP	22012620
MIRT531289	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT531288	hsa-miR-4679	PAR-CLIP	22012620
MIRT531287	hsa-miR-6804-3p	PAR-CLIP	22012620
MIRT531286	hsa-miR-3689a-5p	PAR-CLIP	22012620
MIRT531285	hsa-miR-3689b-5p	PAR-CLIP	22012620
MIRT531284	hsa-miR-3689e	PAR-CLIP	22012620
MIRT531283	hsa-miR-3689f	PAR-CLIP	22012620
MIRT531282	hsa-miR-5701	PAR-CLIP	22012620
MIRT531281	hsa-miR-196a-5p	PAR-CLIP	22012620
MIRT1368353	hsa-miR-3613-3p	CLIP-seq
MIRT1368354	hsa-miR-4428	CLIP-seq
MIRT1368355	hsa-miR-4509	CLIP-seq
MIRT1368356	hsa-miR-4744	CLIP-seq
MIRT1368357	hsa-miR-548n	CLIP-seq
MIRT1368358	hsa-miR-579	CLIP-seq
MIRT1368359	hsa-miR-593	CLIP-seq
MIRT1368360	hsa-miR-607	CLIP-seq
MIRT1368355	hsa-miR-4509	CLIP-seq
MIRT1368356	hsa-miR-4744	CLIP-seq
MIRT1368359	hsa-miR-593	CLIP-seq
MIRT2626984	hsa-miR-1299	CLIP-seq
MIRT2626985	hsa-miR-144	CLIP-seq
MIRT2626986	hsa-miR-205	CLIP-seq
MIRT2626987	hsa-miR-3127-3p	CLIP-seq
MIRT2626988	hsa-miR-3668	CLIP-seq
MIRT2626989	hsa-miR-4268	CLIP-seq
MIRT2626990	hsa-miR-4286	CLIP-seq
MIRT2626991	hsa-miR-4289	CLIP-seq
MIRT2626992	hsa-miR-4448	CLIP-seq
MIRT2626993	hsa-miR-4646-3p	CLIP-seq
MIRT2626994	hsa-miR-4704-3p	CLIP-seq
MIRT1368357	hsa-miR-548n	CLIP-seq
MIRT2626995	hsa-miR-548p	CLIP-seq
MIRT2626996	hsa-miR-548t	CLIP-seq
MIRT2626997	hsa-miR-875-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000821	Process	Regulation of arginine metabolic process	IBA
GO:0000821	Process	Regulation of arginine metabolic process	IEA
GO:0003333	Process	Amino acid transmembrane transport	IBA
GO:0005515	Function	Protein binding	IPI	9878049
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9829974
GO:0006865	Process	Amino acid transport	IEA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	IBA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	IEA
GO:0015179	Function	L-amino acid transmembrane transporter activity	IBA
GO:0015820	Process	L-leucine transport	IDA	9829974, 9878049
GO:0015820	Process	L-leucine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15756301
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0061459	Function	L-arginine transmembrane transporter activity	ISS
GO:1903826	Process	L-arginine transmembrane transport	IDA	9829974
GO:1903826	Process	L-arginine transmembrane transport	IEA
GO:1990822	Process	Basic amino acid transmembrane transport	TAS	9829974

MIM	HGNC	e!Ensembl
603593	11065	ENSG00000155465

Q9UM01

Protein name

Y+L amino acid transporter 1 (Monocyte amino acid permease 2) (MOP-2) (Solute carrier family 7 member 7) (y(+)L-type amino acid transporter 1) (Y+LAT1) (y+LAT-1)

Protein function

Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesi

PDB

8XXI , 8XYJ , 8YLP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13520	AA_permease_2	37 → 461	Amino acid permease	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in kidney and peripheral blood leukocytes (PubMed:9829974). Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine (PubMed:9829974). Expressed in normal fibroblasts and those from

Sequence

MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPK
GVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYAYILEAFGGFLAFIRL
WTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWG
TLVQDIFTYAKVLALIAVIVAGIVRLGQGASTHFENSFEGSSFAVGDIALALYSALFSYS
GWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTF
ADQIFGIFNWIIPLSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVP
SLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFF
PIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSAT
RYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN

Sequence length

511

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Basigin interactions Amino acid transport across the plasma membrane Defective SLC7A7 causes lysinuric protein intolerance (LPI)

758

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoinflammatory syndrome	Pathogenic	rs121908679	RCV002262560
Lysinuric protein intolerance	Likely pathogenic; Pathogenic	rs774080549, rs1264298481, rs1489021418, rs2139383552, rs2139383657, rs773357652, rs2139388749, rs2139394686, rs748127544, rs2039339219, rs2039344714, rs2139387978, rs2038542991, rs2138662323, rs2139397147 View all (101 more)	RCV001335669 RCV001378639 RCV003472949 RCV001383305 RCV001384193 RCV001384098 RCV001389484 RCV001382771 RCV001390016 RCV001380323 RCV001381435 RCV001867137 RCV002030983 RCV002037666 RCV001931407 RCV002007271 RCV001899525 RCV002000223 RCV001924731 RCV001885834 RCV001982912 RCV001959016 RCV001892901 RCV001983019 RCV003062615 RCV003072378 RCV002614213 RCV002791552 RCV002819440 RCV002815271 RCV002838209 RCV002894057 RCV002880492 RCV002894604 RCV000006586 RCV000006587 RCV000006590 RCV000006592 RCV003047488 RCV003046985 RCV003234623 RCV003472947 RCV003472948 RCV003472950 RCV003472951 RCV003472952 RCV003472953 RCV003472954 RCV003472955 RCV003474022 RCV003474023 RCV003474024 RCV003474025 RCV003474026 RCV003474027 RCV003474028 RCV003474029 RCV003474030 RCV003474031 RCV003474032 RCV003474033 RCV003474034 RCV003474035 RCV003474036 RCV003508095 RCV003508251 RCV003508866 RCV003507075 RCV003507889 RCV003616271 RCV003616618 RCV003616711 RCV003616974 RCV003616886 RCV003617141 RCV003615541 RCV003862444 RCV003878361 RCV003990103 RCV004573648 RCV004573649 RCV004573650 RCV000501922 RCV000680100 RCV000702454 RCV000801183 RCV000049759 RCV000049761 RCV000049762 RCV000049763 RCV000049764 RCV000049765 RCV000049766 RCV000049768 RCV000049769 RCV000049770 RCV000049771 RCV000049772 RCV000049773 RCV000049774 RCV000049776 RCV000049777 RCV000049778 RCV000049779 RCV000049781 RCV000049782 RCV000049783 RCV000049784 RCV000049786 RCV000049787 RCV000049788 RCV000049789 RCV000049790 RCV000049792 RCV000049793 RCV000049794 RCV000049795 RCV000049796 RCV001007644 RCV001065675 RCV001054857 RCV001218231 RCV001225885 RCV001232143
SLC7A7-related disorder	Likely pathogenic; Pathogenic	rs774080549, rs2501842561, rs386833822	RCV003405563 RCV003402760 RCV003415815

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs539843065	RCV005893251
Hepatocellular carcinoma	Likely benign	rs754387668	RCV005899962
Thyroid cancer, nonmedullary, 1	Likely benign	rs750720946	RCV005912697

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis	Associate	35964089
Anemia	Associate	22876067
Arginine Glycine Amidinotransferase Deficiency	Associate	11544277
Brain Diseases	Associate	27567650
Carcinoma Basal Cell	Associate	29938775
Coproporphyria Hereditary	Associate	35669728
Drug Related Side Effects and Adverse Reactions	Associate	23545897
Dykes Markes Harper syndrome	Associate	31705628
Esophageal Squamous Cell Carcinoma	Associate	37071001
Failure to Thrive	Associate	31705628
Fetal Growth Retardation	Associate	29499643
Genetic Diseases Inborn	Associate	31705628, 9829974
Glioma	Associate	23975734, 28510245
Glomerulonephritis	Associate	35964089
Glomerulopathy with fibronectin deposits	Associate	35964089
Hyperammonemia	Associate	22876067, 35964089
Immune System Diseases	Associate	31705628
Inflammation	Associate	29616026
Lung Diseases	Associate	31705628
Lupus Erythematosus Systemic	Associate	35669728
Lymphohistiocytosis Hemophagocytic	Associate	32542393
Lymphoma Non Hodgkin	Associate	36945359
Lysinuric Protein Intolerance	Associate	10631139, 11078698, 11544277, 17530437, 18716612, 21110863, 22876067, 27567650, 28028301, 28057010, 29058386, 29616026, 31705628, 36223829, 37528333, 9829974 View all (1 more)
Multiple Sclerosis	Associate	38218802
Neoplasms	Associate	23975734, 35745070
Osteoporosis	Associate	31705628
Periodontitis	Associate	38218802
Persistent Vegetative State	Associate	35964089
Pre Eclampsia	Associate	29499643
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	30025393
Primary Immunodeficiency Diseases	Associate	38644452
Renal Insufficiency	Associate	31705628

SLC7A7 (solute carrier family 7 member 7)