MGP Database

MGP000722

Record overview

MGPD ID	MGP000722
Gene ID	1497
Species	Homo sapiens (Human)
Gene Name	cystinosin, lysosomal cystine transporter
Gene Symbol	CTNS
Synonyms	PQLC4; CTNS-LSB;
Alternate names	cystinosin;
Chromosome	17
Map Location	17p13
Summary	This 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]
Orthologs	View 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`