| Transporter Information: | |
| Name: | solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 |
|---|---|
| Symbol: | SLC7A4 |
| TC: | 2.A.3.3.1 |
| Locations: | 22q11.2 |
| Aliases: | HCAT3, CAT-4 |
| GenBank: | AJ000730 |
| Swiss-Prot: | O43246 |
| Accession Number: | NM_004173 |
| GDB | GDB:9767963 |
| LocusLink | 6545 |
| OMIM | 603752 |
| PubMed (9598310): | Sperandeo MP, Borsani G, Incerti B, Zollo M, Rossi E, Zuffardi O, CastaldoP, Taglialatela M, Andria G, Sebastio G. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the regiondeleted in the velocardiofacial syndrome.Genomics. 1998 Apr 15;49(2):230-6. PMID: 9598310 [PubMed - indexed for MEDLINE] By screening an expressed sequence tag database, we identified a novel human gene, SLC7A4, encoding a solute carrier family 7 [cationic amino acid (CAA) CAT-4 transporter, y+ system] member 4. The SLC7A4 cDNA is 2325 nt long and includes 78, 1911, and 336 nt in the 5' noncoding, coding, and 3'-noncoding regions, respectively. SLC7A4 displays high homology with SLC7A1 and SLC7A2, two previously known CAA transporters. By chromosomal in situ hybridization and YAC identification, SLC7A4 was mapped to 22q11.2, the commonly deleted region of the velocardiofacial syndrome (VCFS, Shprintzen syndrome). In a patient affected by VCFS, deletion of SLC7A4 was demonstrated by chromosomal FISH. By Northern analysis, an abundant transcript was detected in brain, testis, and placenta. Microinjection of SLC7A4 mRNA into Xenopus laevis oocytes demonstrates a significant stimulation of CAA transport. |
>sp|O43246|CTR4_HUMAN Cationic amino acid transporter 4 OS=Homo sapiens GN=SLC7A4 PE=2 SV=3 MARGLPTIASLARLCQKLNRLKPLEDSTMETSLRRCLSTLDLTLLGVGGMVGSGLYVLTGAVAKEVAGPAVLLSFGVAAV ASLLAALCYAEFGARVPRTGSAYLFTYVSMGELWAFLIGWNVLLEYIIGGAAVARAWSGYLDSMFSHSIRNFTETHVGSW QVPLLGHYPDFLAAGIILLASAFVSCGARVSSWLNHTFSAISLLVILFIVILGFILAQPHNWSADEGGFAPFGFSGVMAG TASCFYAFVGFDVIAASSEEAQNPRRSVPLAIAISLAIAAGAYILVSTVLTLMVPWHSLDPDSALADAFYQRGYRWAGFI VAAGSICAMNTVLLSLLFSLPRIVYAMAADGLFFQVFAHVHPRTQVPVAGTLAFGLLTAFLALLLDLESLVQFLSLGTLL AYTFVATSIIVLRFQKSSPPSSPGPASPGPLTKQQSSFSDHLQLVGTVHASVPEPGELKPALRPYLGFLDGYSPGAVVTW ALGVMLASAITIGCVLVFGNSTLHLPHWGYILLLLLTSVMFLLSLLVLGAHQQQYREDLFQIPMVPLIPALSIVLNICLM LKLSYLTWVRFSIWLLMGLAVYFGYGIRHSKENQRELPGLNSTHYVVFPRGSLEETVQAMQPPSQAPAQDPGHME | |