| Identification |
|---|
| HMDB Protein ID
| CDBP04822 |
| Secondary Accession Numbers
| Not Available |
| Name
| Cystinosin |
| Description
| Not Available |
| Synonyms
|
Not Available
|
| Gene Name
| CTNS |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in L-cystine transmembrane transporter activity |
| Specific Function
| Thought to transport cystine out of lysosomes |
| GO Classification
|
Not Available
|
| Cellular Location
|
- Lysosome membrane
- Multi-pass membrane protein
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Cysteine Metabolism |    |  | | Beta-mercaptolactate-cysteine disulfiduria |    | Not Available | | Cystinosis, ocular nonnephropathic |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 17p13 |
| SNPs
| CTNS |
| Gene Sequence
|
>1104 bp
ATGATAAGGAATTGGCTGACTATTTTTATCCTTTTTCCCCTGAAGCTCGTAGAGAAATGT
GAGTCAAGCGTCAGCCTCACTGTTCCTCCTGTCGTAAAGCTGGAGAACGGCAGCTCGACC
AACGTCAGCCTCACCCTGCGGCCACCATTAAATGCAACCCTGGTGATCACTTTTGAAATC
ACATTTCGTTCCAAAAATATTACTATCCTTGAGCTCCCCGATGAAGTTGTGGTGCCTCCT
GGAGTGACAAACTCCTCTTTTCAAGTGACATCTCAAAATGTTGGACAACTTACTGTTTAT
CTACATGGAAATCACTCCAATCAGACCGGCCCGAGGATACGCTTTCTTGTGATCCGCAGC
AGCGCCATTAGCATCATAAACCAGGTGATTGGCTGGATCTACTTTGTGGCCTGGTCCATC
TCCTTCTACCCTCAGGTGATCATGAATTGGAGGCGGAAAAGTGTCATTGGTCTGAGCTTC
GACTTCGTGGCTCTGAACCTGACGGGCTTCGTGGCCTACAGTGTATTCAACATCGGCCTC
CTCTGGGTGCCCTACATCAAGGAGCAGTTTCTCCTCAAATACCCCAACGGAGTGAACCCC
GTGAACAGCAACGACGTCTTCTTCAGCCTGCACGCGGTTGTCCTCACGCTGATCATCATC
GTGCAGTGCTGCCTGTATGAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTC
CTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACC
ACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAG
TATTTTCCACAGGCCTACATGAACTTTTACTACAAAAGCACTGAGGGCTGGAGCATTGGC
AACGTGCTCCTGGACTTCACCGGGGGCAGCTTCAGCCTCCTGCAGATGTTCCTCCAGTCC
TACAACAACGACCAGTGGACGCTGATCTTCGGAGACCCAACCAAGTTTGGACTCGGGGTC
TTCTCCATCGTCTTCGACGTCGTCTTCTTCATCCAGCACTTCTGTTTGTACAGAAAGAGA
CCGGGGTATGACCAGCTGAACTAG
|
| Protein Properties |
|---|
| Number of Residues
| 367 |
| Molecular Weight
| 41737.6 |
| Theoretical pI
| 9.21 |
| Pfam Domain Function
|
Not Available |
| Signals
|
|
|
Transmembrane Regions
|
- ["122-142", "162-182", "206-226", "238-258", "262-282", "298-318", "336-356"]
|
| Protein Sequence
|
>Cystinosin
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEI
TFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVYLHGNHSNQTGPRIRFLVIRS
SAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGL
LWVPYIKEQFLLKYPNGVNPVNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGF
LVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKR
PGYDQLN
|
| External Links |
|---|
| GenBank ID Protein
| 119943110 |
| UniProtKB/Swiss-Prot ID
| O60931 |
| UniProtKB/Swiss-Prot Entry Name
| CTNS_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_004937.2 |
| GeneCard ID
| CTNS |
| GenAtlas ID
| CTNS |
| HGNC ID
| HGNC:2518 |
| References |
|---|
| General References
| Not Available |