Cystinosin
Details
- Name
- Cystinosin
- Synonyms
- Not Available
- Gene Name
- CTNS
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0037667|Cystinosin MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR PGYDQLN
- Number of residues
- 367
- Molecular Weight
- 41737.6
- Theoretical pI
- 9.21
- GO Classification
- FunctionsL-cystine transmembrane transporter activityProcessesadult walking behavior / ATP metabolic process / brain development / cellular amino acid metabolic process / cognition / glutathione metabolic process / grooming behavior / ion transport / L-cystine transport / lens development in camera-type eye / long-term memory / melanin biosynthetic process / transmembrane transport / visual learningComponentsextracellular exosome / integral component of membrane / intermediate filament cytoskeleton / intracellular membrane-bounded organelle / late endosome / lysosomal membrane / lysosome / melanosome / plasma membrane
- General Function
- L-cystine transmembrane transporter activity
- Specific Function
- Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.
- Pfam Domain Function
- PQ-loop (PF04193)
- Transmembrane Regions
- 122-142 162-182 206-226 238-258 262-282 298-318 336-356
- Cellular Location
- Lysosome membrane
- Gene sequence
>lcl|BSEQ0010137|Cystinosin (CTNS) ATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGT GAGTCAAGCGTCAGCCTCACTGTTCCTCCTGTCGTAAAGCTGGAGAACGGCAGCTCGACC AACGTCAGCCTCACCCTGCGGCCACCATTAAATGCAACCCTGGTGATCACTTTTGAAATC ACATTTCGTTCCAAAAATATTACTATCCTTGAGCTCCCCGATGAAGTTGTGGTGCCTCCT GGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTAT CTACATGGAAATCACTCCAATCAGACCGGCCCGAGGATACGCTTTCTTGTGATCCGCAGC AGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATC TCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGTGTCATTGGTCTGAGCTTC GACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTC CTCTGGGTGCCCTACATCAAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCC GTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATC GTGCAGTGCTGCCTGTATGAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTC CTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACC ACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAG TATTTTCCACAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGC AACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCC TACAACAACGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTC TTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGA CCGGGGCTTCAGGCAGCGCGCACAGGCTCTGGCAGCCGTCTCAGGCAGGACTGGGCACCA AGCTTGCAGCCGAAGGCCTTGCCCCAAACTACCAGCGTTTCTGCAAGCAGCTTGAAGGGC TGA
- Chromosome Location
- 17
- Locus
- 17p13
- External Identifiers
Resource Link UniProtKB ID O60931 UniProtKB Entry Name CTNS_HUMAN GenBank Protein ID 3036851 GenBank Gene ID Y15924 GenAtlas ID CTNS HGNC ID HGNC:2518 - General References
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