SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9UM01

- YLAT1_HUMAN

UniProt

Q9UM01 - YLAT1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Y+L amino acid transporter 1
Gene
SLC7A7
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.5 Publications

Enzyme regulationi

Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).

Kineticsi

  1. KM=31.7 µM for L-leucine (in the presence of 0.1 M NaCl)1 Publication
  2. KM=16.2 µM for L-leucine (in the presence of 0.1 M LiCl)

GO - Molecular functioni

  1. amino acid transmembrane transporter activity Source: InterPro

GO - Biological processi

  1. amino acid transport Source: Reactome
  2. blood coagulation Source: Reactome
  3. cellular amino acid metabolic process Source: ProtInc
  4. ion transport Source: Reactome
  5. leukocyte migration Source: Reactome
  6. protein complex assembly Source: ProtInc
  7. transmembrane transport Source: Reactome
  8. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Transport

Enzyme and pathway databases

ReactomeiREACT_12560. Basigin interactions.
REACT_13796. Amino acid transport across the plasma membrane.

Protein family/group databases

TCDBi2.A.3.8.22. the amino acid-polyamine-organocation (apc) family.

Names & Taxonomyi

Protein namesi
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 namesi
Name:SLC7A7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:11065. SLC7A7.

Subcellular locationi

Basolateral cell membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei37 – 5721Helical; Reviewed prediction
Add
BLAST
Transmembranei69 – 8921Helical; Reviewed prediction
Add
BLAST
Transmembranei107 – 12721Helical; Reviewed prediction
Add
BLAST
Transmembranei133 – 15321Helical; Reviewed prediction
Add
BLAST
Transmembranei160 – 18021Helical; Reviewed prediction
Add
BLAST
Transmembranei186 – 20621Helical; Reviewed prediction
Add
BLAST
Transmembranei222 – 24221Helical; Reviewed prediction
Add
BLAST
Transmembranei259 – 27921Helical; Reviewed prediction
Add
BLAST
Transmembranei304 – 32421Helical; Reviewed prediction
Add
BLAST
Transmembranei383 – 40321Helical; Reviewed prediction
Add
BLAST
Transmembranei416 – 43621Helical; Reviewed prediction
Add
BLAST
Transmembranei441 – 46121Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. basolateral plasma membrane Source: UniProtKB-SubCell
  2. integral component of plasma membrane Source: ProtInc
  3. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → I in LPI. 1 Publication
VAR_039092
Natural varianti36 – 361Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication
VAR_039093
Natural varianti50 – 501M → K in LPI; failed to induce cationic amino acid transport activity. 2 Publications
VAR_030595
Natural varianti53 – 531S → L in LPI. 1 Publication
VAR_039094
Natural varianti54 – 541G → V in LPI; failed to induce cationic amino acid transport activity. 2 Publications
VAR_010261
Natural varianti124 – 1241L → P in LPI. 1 Publication
VAR_039096
Natural varianti140 – 1401A → P in LPI. 1 Publication
VAR_039097
Natural varianti152 – 1521F → L in LPI; moderately reduced cationic amino acid transport activity. 2 Publications
VAR_039098
Natural varianti188 – 1881T → I in LPI; failed to induce cationic amino acid transport activity. 2 Publications
VAR_030596
Natural varianti191 – 1911K → E in LPI. 1 Publication
VAR_039100
Natural varianti238 – 2381S → F in LPI. 2 Publications
VAR_030597
Natural varianti251 – 2511E → D in LPI. 1 Publication
VAR_039101
Natural varianti261 – 2611L → P in LPI. 1 Publication
VAR_039102
Natural varianti333 – 3331R → M in LPI. 2 Publications
VAR_030598
Natural varianti334 – 3341L → R in LPI; failed to induce cationic amino acid transport activity. 4 Publications
VAR_010262
Natural varianti338 – 3381G → D in LPI. 2 Publications
VAR_010999
Natural varianti365 – 3651N → Y in LPI. 1 Publication
VAR_039103
Natural varianti386 – 3861S → R in LPI; failed to induce cationic amino acid transport activity. 3 Publications
VAR_011000
Natural varianti489 – 4891S → P in LPI. 2 Publications
VAR_030599

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi222700. phenotype.
Orphaneti470. Lysinuric protein intolerance.
PharmGKBiPA35925.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 511511Y+L amino acid transporter 1
PRO_0000054281Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei18 – 181Phosphoserine By similarity
Glycosylationi325 – 3251N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9UM01.
PaxDbiQ9UM01.
PRIDEiQ9UM01.

PTM databases

PhosphoSiteiQ9UM01.

Expressioni

Tissue specificityi

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.7 Publications

Inductioni

Expression is stimulated and enhanced by IFNG/IFN-gamma.1 Publication

Gene expression databases

ArrayExpressiQ9UM01.
BgeeiQ9UM01.
CleanExiHS_SLC7A7.
GenevestigatoriQ9UM01.

Organism-specific databases

HPAiHPA036227.

Interactioni

Subunit structurei

Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.2 Publications

Protein-protein interaction databases

BioGridi114518. 2 interactions.
IntActiQ9UM01. 1 interaction.
STRINGi9606.ENSP00000285850.

Structurei

3D structure databases

ProteinModelPortaliQ9UM01.
SMRiQ9UM01. Positions 37-372.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0531.
HOVERGENiHBG000476.
InParanoidiQ9UM01.
KOiK13867.
OMAiCLAPYAA.
OrthoDBiEOG73BVCR.
PhylomeDBiQ9UM01.
TreeFamiTF313355.

Family and domain databases

InterProiIPR002293. AA/rel_permease1.
[Graphical view]
PANTHERiPTHR11785. PTHR11785. 1 hit.
PfamiPF13520. AA_permease_2. 1 hit.
[Graphical view]
PIRSFiPIRSF006060. AA_transporter. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UM01-1 [UniParc]FASTAAdd to Basket

« Hide

MVDSTEYEVA SQPEVETSPL GDGASPGPEQ VKLKKEISLL NGVCLIVGNM    50
IGSGIFVSPK GVLIYSASFG LSLVIWAVGG LFSVFGALCY AELGTTIKKS 100
GASYAYILEA FGGFLAFIRL WTSLLIIEPT SQAIIAITFA NYMVQPLFPS 150
CFAPYAASRL LAAACICLLT FINCAYVKWG TLVQDIFTYA KVLALIAVIV 200
AGIVRLGQGA STHFENSFEG SSFAVGDIAL ALYSALFSYS GWDTLNYVTE 250
EIKNPERNLP LSIGISMPIV TIIYILTNVA YYTVLDMRDI LASDAVAVTF 300
ADQIFGIFNW IIPLSVALSC FGGLNASIVA ASRLFFVGSR EGHLPDAICM 350
IHVERFTPVP SLLFNGIMAL IYLCVEDIFQ LINYYSFSYW FFVGLSIVGQ 400
LYLRWKEPDR PRPLKLSVFF PIVFCLCTIF LVAVPLYSDT INSLIGIAIA 450
LSGLPFYFLI IRVPEHKRPL YLRRIVGSAT RYLQVLCMSV AAEMDLEDGG 500
EMPKQRDPKS N 511
Length:511
Mass (Da):55,991
Last modified:January 24, 2001 - v2
Checksum:iA71D677B6B075894
GO

Sequence cautioni

The sequence CAD62619.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAA95120.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → I in LPI. 1 Publication
VAR_039092
Natural varianti36 – 361Missing in LPI; failed to induce cationic amino acid transport activity. 1 Publication
VAR_039093
Natural varianti50 – 501M → K in LPI; failed to induce cationic amino acid transport activity. 2 Publications
VAR_030595
Natural varianti53 – 531S → L in LPI. 1 Publication
VAR_039094
Natural varianti54 – 541G → V in LPI; failed to induce cationic amino acid transport activity. 2 Publications
VAR_010261
Natural varianti91 – 911A → V.1 Publication
Corresponds to variant rs11568438 [ dbSNP | Ensembl ].
VAR_039095
Natural varianti124 – 1241L → P in LPI. 1 Publication
VAR_039096
Natural varianti140 – 1401A → P in LPI. 1 Publication
VAR_039097
Natural varianti152 – 1521F → L in LPI; moderately reduced cationic amino acid transport activity. 2 Publications
VAR_039098
Natural varianti159 – 1591R → C.
Corresponds to variant rs11568437 [ dbSNP | Ensembl ].
VAR_039099
Natural varianti188 – 1881T → I in LPI; failed to induce cationic amino acid transport activity. 2 Publications
VAR_030596
Natural varianti191 – 1911K → E in LPI. 1 Publication
VAR_039100
Natural varianti238 – 2381S → F in LPI. 2 Publications
VAR_030597
Natural varianti251 – 2511E → D in LPI. 1 Publication
VAR_039101
Natural varianti261 – 2611L → P in LPI. 1 Publication
VAR_039102
Natural varianti333 – 3331R → M in LPI. 2 Publications
VAR_030598
Natural varianti334 – 3341L → R in LPI; failed to induce cationic amino acid transport activity. 4 Publications
VAR_010262
Natural varianti338 – 3381G → D in LPI. 2 Publications
VAR_010999
Natural varianti365 – 3651N → Y in LPI. 1 Publication
VAR_039103
Natural varianti386 – 3861S → R in LPI; failed to induce cationic amino acid transport activity. 3 Publications
VAR_011000
Natural varianti413 – 4131P → S in a breast cancer sample; somatic mutation. 1 Publication
VAR_036609
Natural varianti489 – 4891S → P in LPI. 2 Publications
VAR_030599

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS9574.1.
RefSeqiNP_001119577.1. NM_001126105.2.
NP_001119578.1. NM_001126106.2.
XP_006720365.1. XM_006720302.1.
UniGeneiHs.513147.
Hs.732349.

Genome annotation databases

EnsembliENST00000285850; ENSP00000285850; ENSG00000155465.
ENST00000397528; ENSP00000380662; ENSG00000155465.
ENST00000397529; ENSP00000380663; ENSG00000155465.
ENST00000397532; ENSP00000380666; ENSG00000155465.
ENST00000555702; ENSP00000451881; ENSG00000155465.
GeneIDi9056.
KEGGihsa:9056.
UCSCiuc001wgr.4. human.

Polymorphism databases

DMDMi12643378.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS9574.1.
RefSeqi NP_001119577.1. NM_001126105.2.
NP_001119578.1. NM_001126106.2.
XP_006720365.1. XM_006720302.1.
UniGenei Hs.513147.
Hs.732349.

3D structure databases

ProteinModelPortali Q9UM01.
SMRi Q9UM01. Positions 37-372.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114518. 2 interactions.
IntActi Q9UM01. 1 interaction.
STRINGi 9606.ENSP00000285850.

Protein family/group databases

TCDBi 2.A.3.8.22. the amino acid-polyamine-organocation (apc) family.

PTM databases

PhosphoSitei Q9UM01.

Polymorphism databases

DMDMi 12643378.

Proteomic databases

MaxQBi Q9UM01.
PaxDbi Q9UM01.
PRIDEi Q9UM01.

Protocols and materials databases

DNASUi 9056.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000285850 ; ENSP00000285850 ; ENSG00000155465 .
ENST00000397528 ; ENSP00000380662 ; ENSG00000155465 .
ENST00000397529 ; ENSP00000380663 ; ENSG00000155465 .
ENST00000397532 ; ENSP00000380666 ; ENSG00000155465 .
ENST00000555702 ; ENSP00000451881 ; ENSG00000155465 .
GeneIDi 9056.
KEGGi hsa:9056.
UCSCi uc001wgr.4. human.

Organism-specific databases

CTDi 9056.
GeneCardsi GC14M023242.
GeneReviewsi SLC7A7.
HGNCi HGNC:11065. SLC7A7.
HPAi HPA036227.
MIMi 222700. phenotype.
603593. gene.
neXtProti NX_Q9UM01.
Orphaneti 470. Lysinuric protein intolerance.
PharmGKBi PA35925.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0531.
HOVERGENi HBG000476.
InParanoidi Q9UM01.
KOi K13867.
OMAi CLAPYAA.
OrthoDBi EOG73BVCR.
PhylomeDBi Q9UM01.
TreeFami TF313355.

Enzyme and pathway databases

Reactomei REACT_12560. Basigin interactions.
REACT_13796. Amino acid transport across the plasma membrane.

Miscellaneous databases

GeneWikii SLC7A7.
GenomeRNAii 9056.
NextBioi 33935.
PROi Q9UM01.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UM01.
Bgeei Q9UM01.
CleanExi HS_SLC7A7.
Genevestigatori Q9UM01.

Family and domain databases

InterProi IPR002293. AA/rel_permease1.
[Graphical view ]
PANTHERi PTHR11785. PTHR11785. 1 hit.
Pfami PF13520. AA_permease_2. 1 hit.
[Graphical view ]
PIRSFi PIRSF006060. AA_transporter. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: VARIANT LPI ARG-334, CHARACTERIZATION OF VARIANT LPI ARG-334.
  18. 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. 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.

Entry informationi

Entry nameiYLAT1_HUMAN
AccessioniPrimary (citable) accession number: Q9UM01
Secondary accession number(s): B2RAU0
, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: January 24, 2001
Last modified: September 3, 2014
This is version 136 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi