Q9UM01 (YLAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Y+L amino acid transporter 1

Alternative name(s):
Monocyte amino acid permease 2
Short name=MOP-2
Solute carrier family 7 member 7
y(+)L-type amino acid transporter 1
Short name=Y+LAT1
Short name=y+LAT-1

Gene names

Name:

SLC7A7

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	511 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.1 Ref.2 Ref.13 Ref.14 Ref.15
Enzyme regulation	Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).
Subunit structure	Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. Ref.1 Ref.2
Subcellular location	Basolateral cell membrane; Multi-pass membrane protein Ref.21.
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. Ref.1 Ref.3 Ref.11 Ref.12 Ref.14 Ref.15 Ref.16
Induction	Expression is stimulated and enhanced by IFNG/IFN-gamma. Ref.14
Involvement in disease	Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. 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 defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.24
Sequence similarities	Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. [View classification]
Biophysicochemical properties	Kinetic parameters: KM=31.7 µM for L-leucine (in the presence of 0.1 M NaCl) Ref.2 KM=16.2 µM for L-leucine (in the presence of 0.1 M LiCl)
Sequence caution	The sequence BAA95120.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAD62619.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Amino-acid transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	amino acid transport Traceable author statement. Source: Reactome blood coagulation Traceable author statement. Source: Reactome cellular amino acid metabolic process Traceable author statement Ref.1. Source: ProtInc leukocyte migration Traceable author statement. Source: Reactome protein complex assembly Traceable author statement Ref.1. Source: ProtInc transmembrane transport Traceable author statement. Source: Reactome
Cellular_component	basolateral plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	amino acid transmembrane transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 511	511	Y+L amino acid transporter 1		PRO_0000054281
Regions
	Transmembrane	37 – 57	21	Helical; Potential
	Transmembrane	69 – 89	21	Helical; Potential
	Transmembrane	107 – 127	21	Helical; Potential
	Transmembrane	133 – 153	21	Helical; Potential
	Transmembrane	160 – 180	21	Helical; Potential
	Transmembrane	186 – 206	21	Helical; Potential
	Transmembrane	222 – 242	21	Helical; Potential
	Transmembrane	259 – 279	21	Helical; Potential
	Transmembrane	304 – 324	21	Helical; Potential
	Transmembrane	383 – 403	21	Helical; Potential
	Transmembrane	416 – 436	21	Helical; Potential
	Transmembrane	441 – 461	21	Helical; Potential
Amino acid modifications
	Glycosylation	325	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	5	1	T → I in LPI. Ref.24		VAR_039092
	Natural variant	36	1	Missing in LPI; failed to induce cationic amino acid transport activity. Ref.24		VAR_039093
	Natural variant	50	1	M → K in LPI; failed to induce cationic amino acid transport activity. Ref.22 Ref.24		VAR_030595
	Natural variant	53	1	S → L in LPI. Ref.24		VAR_039094
	Natural variant	54	1	G → V in LPI; failed to induce cationic amino acid transport activity. Ref.19 Ref.24		VAR_010261
	Natural variant	91	1	A → V. Ref.6 Corresponds to variant rs11568438 [ dbSNP | Ensembl ].		VAR_039095
	Natural variant	124	1	L → P in LPI. Ref.24		VAR_039096
	Natural variant	140	1	A → P in LPI. Ref.24		VAR_039097
	Natural variant	152	1	F → L in LPI; moderately reduced cationic amino acid transport activity. Ref.21 Ref.24		VAR_039098
	Natural variant	159	1	R → C. Corresponds to variant rs11568437 [ dbSNP | Ensembl ].		VAR_039099
	Natural variant	188	1	T → I in LPI; failed to induce cationic amino acid transport activity. Ref.22 Ref.24		VAR_030596
	Natural variant	191	1	K → E in LPI. Ref.24		VAR_039100
	Natural variant	238	1	S → F in LPI. Ref.20 Ref.24		VAR_030597
	Natural variant	251	1	E → D in LPI. Ref.24		VAR_039101
	Natural variant	261	1	L → P in LPI. Ref.24		VAR_039102
	Natural variant	333	1	R → M in LPI. Ref.22 Ref.24		VAR_030598
	Natural variant	334	1	L → R in LPI; failed to induce cationic amino acid transport activity. Ref.1 Ref.17 Ref.19 Ref.24		VAR_010262
	Natural variant	338	1	G → D in LPI. Ref.19 Ref.24		VAR_010999
	Natural variant	365	1	N → Y in LPI. Ref.24		VAR_039103
	Natural variant	386	1	S → R in LPI; failed to induce cationic amino acid transport activity. Ref.18 Ref.22 Ref.24		VAR_011000
	Natural variant	413	1	P → S in a breast cancer sample; somatic mutation. Ref.23		VAR_036609
	Natural variant	489	1	S → P in LPI. Ref.20 Ref.24		VAR_030599

Sequences

	Sequence		Length	Mass (Da)
	Q9UM01 [UniParc]. Last modified January 24, 2001. Version 2. Checksum: A71D677B6B075894	FASTA	511	55,991
	10 20 30 40 50 60 MVDSTEYEVA SQPEVETSPL GDGASPGPEQ VKLKKEISLL NGVCLIVGNM IGSGIFVSPK 70 80 90 100 110 120 GVLIYSASFG LSLVIWAVGG LFSVFGALCY AELGTTIKKS GASYAYILEA FGGFLAFIRL 130 140 150 160 170 180 WTSLLIIEPT SQAIIAITFA NYMVQPLFPS CFAPYAASRL LAAACICLLT FINCAYVKWG 190 200 210 220 230 240 TLVQDIFTYA KVLALIAVIV AGIVRLGQGA STHFENSFEG SSFAVGDIAL ALYSALFSYS 250 260 270 280 290 300 GWDTLNYVTE EIKNPERNLP LSIGISMPIV TIIYILTNVA YYTVLDMRDI LASDAVAVTF 310 320 330 340 350 360 ADQIFGIFNW IIPLSVALSC FGGLNASIVA ASRLFFVGSR EGHLPDAICM IHVERFTPVP 370 380 390 400 410 420 SLLFNGIMAL IYLCVEDIFQ LINYYSFSYW FFVGLSIVGQ LYLRWKEPDR PRPLKLSVFF 430 440 450 460 470 480 PIVFCLCTIF LVAVPLYSDT INSLIGIAIA LSGLPFYFLI IRVPEHKRPL YLRRIVGSAT 490 500 510 RYLQVLCMSV AAEMDLEDGG EMPKQRDPKS N

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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." Torrents D., Estevez R., Pineda M., Fernandez E., Lloberas J., Shi Y.-B., Zorzano A., Palacin M. J. Biol. Chem. 273:32437-32445(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, TISSUE SPECIFICITY, VARIANT LPI ARG-334.
[2]	"Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family." Pfeiffer R., Rossier G., Spindler B., Meier C., Kuehn L.C., Verrey F. EMBO J. 18:49-57(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBUNIT. Tissue: Testis.
[3]	"SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance." Borsani G., Bassi M.T., Sperandeo M.P., De Grandi A., Buoninconti A., Riboni M., Manzoni M., Incerti B., Pepe A., Andria G., Ballabio A., Sebastio G. Nat. Genet. 21:297-301(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Placenta.
[4]	"SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families." Noguchi A., Shoji Y., Koizumi A., Takahashi T., Shoji Y., Matsumori M., Kayo T., Ohata T., Wada Y., Yoshimura I., Maisawa S., Konishi M., Takasago Y., Takada G. Hum. Mutat. 15:367-372(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"Molecular and biological characterization of a novel monocyte amino acid permease, MOP-2." Takayama K., Yoshimoto M. Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[6]	"Characterization of a human system y+L amino acid transporter." Fukasawa Y., Segawa H., Endou H., Kanai Y. Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-91. Tissue: Kidney.
[7]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: B-cell and Placenta.
[8]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood.
[9]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[11]	"Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects." Dall'Asta V., Bussolati O., Sala R., Rotoli B.M., Sebastio G., Sperandeo M.P., Andria G., Gazzola G.C. Am. J. Physiol. 279:C1829-C1837(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[12]	"Two-way arginine transport in human endothelial cells: TNF-alpha stimulation is restricted to system y(+)." Sala R., Rotoli B.M., Colla E., Visigalli R., Parolari A., Bussolati O., Gazzola G.C., Dall'Asta V. Am. J. Physiol. 282:C134-C143(2002) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[13]	"Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium." Arancibia-Garavilla Y., Toledo F., Casanello P., Sobrevia L. Exp. Physiol. 88:699-710(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[14]	"INFgamma stimulates arginine transport through system y+L in human monocytes." Rotoli B.M., Bussolati O., Sala R., Barilli A., Talarico E., Gazzola G.C., Dall'Asta V. FEBS Lett. 571:177-181(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION.
[15]	"Activation of classical protein kinase C decreases transport via systems y+ and y+L." Rotmann A., Simon A., Martine U., Habermeier A., Closs E.I. Am. J. Physiol. 292:C2259-C2268(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, INHIBITION.
[16]	"Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells." Kaneko S., Ando A., Okuda-Ashitaka E., Maeda M., Furuta K., Suzuki M., Matsumura M., Ito S. Invest. Ophthalmol. Vis. Sci. 48:464-471(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[17]	"Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene." Torrents D., Mykkaenen J., Pineda M., Feliubadalo L., Estevez R., de Cid R., Sanjurjo P., Zorzano A., Nunes V., Huoponen K., Reinikainen A., Simell O., Savontaus M.-L., Aula P., Palacin M. Nat. Genet. 21:293-296(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LPI ARG-334, CHARACTERIZATION OF VARIANT LPI ARG-334.
[18]	"Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance." Sperandeo M.P., Bassi M.T., Riboni M., Parenti G., Buoninconti A., Manzoni M., Incerti B., Larocca M.R., Di Rocco M., Strisciuglio P., Dianzani I., Parini R., Candito M., Endo F., Ballabio A., Andria G., Sebastio G., Borsani G. Am. J. Hum. Genet. 66:92-99(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LPI ARG-386.
[19]	"Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)." Mykkaenen J., Torrents D., Pineda M., Camps M., Yoldi M.E., Horelli-Kuitunen N., Huoponen K., Heinonen M., Oksanen J., Simell O., Savontaus M.-L., Zorzano A., Palacin M., Aula P. Hum. Mol. Genet. 9:431-438(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LPI VAL-54 AND ASP-338, CHARACTERIZATION OF VARIANTS LPI VAL-54 AND ARG-334.
[20]	"Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance." Shoji Y., Noguchi A., Shoji Y., Matsumori M., Takasago Y., Takayanagi M., Yoshida Y., Ihara K., Hara T., Yamaguchi S., Yoshino M., Kaji M., Yamamoto S., Nakai A., Koizumi A., Hokezu Y., Nagamatsu K., Mikami H., Kitajima I., Takada G. Hum. Mutat. 20:375-381(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LPI PHE-238 AND PRO-489.
[21]	"A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance." Sperandeo M.P., Paladino S., Maiuri L., Maroupulos G.D., Zurzolo C., Taglialatela M., Andria G., Sebastio G. Eur. J. Hum. Genet. 13:628-634(2005) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS LPI LEU-36 DEL AND LEU-152, SUBCELLULAR LOCATION.
[22]	"Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene." Sperandeo M.P., Annunziata P., Ammendola V., Fiorito V., Pepe A., Soldovieri M.V., Taglialatela M., Andria G., Sebastio G. Hum. Mutat. 25:410-410(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LPI LYS-50; ILE-188 AND MET-333, CHARACTERIZATION OF VARIANTS LPI LYS-50; ILE-188 AND ARG-386.
[23]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-413.
[24]	"Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene." Sperandeo M.P., Andria G., Sebastio G. Hum. Mutat. 29:14-21(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LPI ILE-5; GLU-36 DEL; LYS-50; LEU-53; VAL-54; PRO-124; PRO-140; LEU-152; ILE-188; GLU-191; PHE-238; ASP-251; PRO-261; MET-333; ARG-334; ASP-338; TYR-365; ARG-386 AND PRO-489.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF092032 mRNA. Translation: AAC83706.1. AJ130718 mRNA. Translation: CAA10198.1. Y18474 mRNA. Translation: CAB40136.1. AB031537 Genomic DNA. Translation: BAA95120.1. Sequence problems. AB011263 mRNA. Translation: BAB11849.1. AB020532 mRNA. Translation: BAA87623.1. BX161519 mRNA. Translation: CAD61952.1. BX248291 mRNA. Translation: CAD62619.1. Different initiation. AK314351 mRNA. Translation: BAG36987.1. CH471078 Genomic DNA. Translation: EAW66245.1. CH471078 Genomic DNA. Translation: EAW66246.1. CH471078 Genomic DNA. Translation: EAW66247.1. CH471078 Genomic DNA. Translation: EAW66248.1. BC003062 mRNA. Translation: AAH03062.1. BC010107 mRNA. Translation: AAH10107.1.
IPI	IPI00549477.
RefSeq	NP_001119577.1. NM_001126105.2. NP_001119578.1. NM_001126106.2.
UniGene	Hs.513147. Hs.732349.
3D structure databases
ProteinModelPortal	Q9UM01.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UM01. 1 interaction.
STRING	9606.ENSP00000285850.
PTM databases
PhosphoSite	Q9UM01.
Polymorphism databases
DMDM	12643378.
Proteomic databases
PaxDb	Q9UM01.
PRIDE	Q9UM01.
Protocols and materials databases
DNASU	9056.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000285850; ENSP00000285850; ENSG00000155465. ENST00000397528; ENSP00000380662; ENSG00000155465. ENST00000397529; ENSP00000380663; ENSG00000155465. ENST00000397532; ENSP00000380666; ENSG00000155465. ENST00000555702; ENSP00000451881; ENSG00000155465.
GeneID	9056.
KEGG	hsa:9056.
UCSC	uc001wgr.4. human.
Organism-specific databases
CTD	9056.
GeneCards	GC14M023242.
HGNC	HGNC:11065. SLC7A7.
HPA	HPA036227.
MIM	222700. phenotype. 603593. gene.
neXtProt	NX_Q9UM01.
Orphanet	470. Lysinuric protein intolerance.
PharmGKB	PA35925.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0531.
HOVERGEN	HBG000476.
InParanoid	Q9UM01.
KO	K13867.
OMA	IVASATW.
OrthoDB	EOG4255SN.
PhylomeDB	Q9UM01.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules. REACT_19419. Amino acid and oligopeptide SLC transporters. REACT_604. Hemostasis.
Gene expression databases
ArrayExpress	Q9UM01.
Bgee	Q9UM01.
CleanEx	HS_SLC7A7.
Genevestigator	Q9UM01.
GermOnline	ENSG00000155465. Homo sapiens.
Family and domain databases
InterPro	IPR002293. AA/rel_permease1. [Graphical view]
PANTHER	PTHR11785. PTHR11785. 1 hit.
PIRSF	PIRSF006060. AA_transporter. 1 hit.
PROSITE	PS00218. AMINO_ACID_PERMEASE_1. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9056.
NextBio	33935.
SOURCE	Search...

Entry information

Entry name

YLAT1_HUMAN

Accession

Primary (citable) accession number: Q9UM01
Secondary accession number(s): B2RAU0 , D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	January 24, 2001
Last modified:	May 1, 2013
This is version 124 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.