MGP Database

MGP000722

Record overview

MGPD IDMGP000722
Gene ID1497
SpeciesHomo sapiens (Human)
Gene Namecystinosin, lysosomal cystine transporter
Gene Symbol CTNS
SynonymsPQLC4; CTNS-LSB;
Alternate namescystinosin;
Chromosome17
Map Location17p13
SummaryThis gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
OrthologsView orthologs and multiple alignments for CTNS

Proteins

cystinosin isoform 1 precursor
Refseq ID:NP_001026851
Protein GI:119943118
UniProt ID:O60931
mRNA ID:NM_001031681
Length:400
RefSeq Status:
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVY
LHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNP
VNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGLQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG
 
sig_peptide: 1..22
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2694
peptide sequence: 
MIRNWLTIFILFPLKLVEKCES

sig_peptide: 1..22
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2694
peptide sequence: 
MIRNWLTIFILFPLKLVEKCES
 
cystinosin isoform 2 precursor
Refseq ID:NP_004928
Protein GI:119943110
UniProt ID:O60931
mRNA ID:NM_004937
Length:367
RefSeq Status:
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVY
LHGNHSNQTGPRIRFLVIRSSAISIINQVIGWIYFVAWSISFYPQVIMNWRRKSVIGLSFDFVALNLTGFVAYSVFNIGLLWVPYIKEQFLLKYPNGVNP
VNSNDVFFSLHAVVLTLIIIVQCCLYERGGQRVSWPAIGFLVLAWLFAFVTMIVAAVGVTTWLQFLFCFSYIKLAVTLVKYFPQAYMNFYYKSTEGWSIG
NVLLDFTGGSFSLLQMFLQSYNNDQWTLIFGDPTKFGLGVFSIVFDVVFFIQHFCLYRKRPGYDQLN
 
sig_peptide: 1..22
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2694
peptide sequence: 
MIRNWLTIFILFPLKLVEKCES
 
  logo