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Protein

Cystinosin

Gene

CTNS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • L-cystine transmembrane transporter activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processMelanin biosynthesis, Transport

Enzyme and pathway databases

ReactomeiR-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides
R-HSA-5223345 Miscellaneous transport and binding events

Protein family/group databases

TCDBi2.A.43.1.1 the lysosomal cystine transporter (lct) family

Names & Taxonomyi

Protein namesi
Recommended name:
Cystinosin
Gene namesi
Name:CTNS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000040531.14
HGNCiHGNC:2518 CTNS
MIMi606272 gene
neXtProtiNX_O60931

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 121LumenalSequence analysisAdd BLAST121
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Topological domaini143 – 161CytoplasmicSequence analysisAdd BLAST19
Transmembranei162 – 182HelicalSequence analysisAdd BLAST21
Topological domaini183 – 205LumenalSequence analysisAdd BLAST23
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21
Topological domaini227 – 237CytoplasmicSequence analysisAdd BLAST11
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Topological domaini259 – 261LumenalSequence analysis3
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21
Topological domaini283 – 297CytoplasmicSequence analysisAdd BLAST15
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Topological domaini319 – 335LumenalSequence analysisAdd BLAST17
Transmembranei336 – 356HelicalSequence analysisAdd BLAST21
Topological domaini357 – 367CytoplasmicSequence analysisAdd BLAST11

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Cystinosis, nephropathic type (CTNS)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications.
See also OMIM:219800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037318110G → V in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs121908129EnsemblClinVar.1
Natural variantiVAR_010677133I → F in CTNS. 1 PublicationCorresponds to variant dbSNP:rs886040970Ensembl.1
Natural variantiVAR_010678139S → F in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs267606754EnsemblClinVar.1
Natural variantiVAR_067490151R → G in CTNS. 1 Publication1
Natural variantiVAR_067491157G → D in CTNS. 1 Publication1
Natural variantiVAR_010680158L → P in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994206EnsemblClinVar.1
Natural variantiVAR_010286169G → D in CTNS. 1 PublicationCorresponds to variant dbSNP:rs121908126EnsemblClinVar.1
Natural variantiVAR_067492173Y → C in CTNS. 1 Publication1
Natural variantiVAR_067493177N → S in CTNS. 1 Publication1
Natural variantiVAR_010681182W → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs764168489EnsemblClinVar.1
Natural variantiVAR_010683205D → N in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994208EnsemblClinVar.1
Natural variantiVAR_010684205Missing in CTNS. 1 Publication1
Natural variantiVAR_037321222Q → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1327959008Ensembl.1
Natural variantiVAR_010689270Missing in CTNS. 1 Publication1
Natural variantiVAR_067494287M → I in CTNS. 1 PublicationCorresponds to variant dbSNP:rs922106812Ensembl.1
Natural variantiVAR_037322288N → K in CTNS. 1 Publication1
Natural variantiVAR_012315298S → N in CTNS. 1 Publication1
Natural variantiVAR_010690305D → G in CTNS. 1 Publication1
Natural variantiVAR_010691305D → Y in CTNS. 1 Publication1
Natural variantiVAR_010692308G → R in CTNS. 3 PublicationsCorresponds to variant dbSNP:rs746307931EnsemblClinVar.1
Natural variantiVAR_067495308G → V in CTNS. 1 PublicationCorresponds to variant dbSNP:rs908965524Ensembl.1
Natural variantiVAR_067496309G → D in CTNS. 1 Publication1
Natural variantiVAR_067497337G → R in CTNS. 1 Publication1
Natural variantiVAR_010694338L → P in CTNS. 1 Publication1
Natural variantiVAR_067498338L → R in CTNS. 1 Publication1
Natural variantiVAR_010695339G → R in CTNS. 4 PublicationsCorresponds to variant dbSNP:rs121908127EnsemblClinVar.1
Natural variantiVAR_010697343 – 346Missing in CTNS. 4
Natural variantiVAR_037323346 – 349Missing in CTNS. 4
Natural variantiVAR_010698346D → N in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs757535731Ensembl.1
Natural variantiVAR_037324349F → FDVEF in CTNS. 1
Cystinosis, adult, non-nephropathic type (CTNSANN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals.
See also OMIM:219750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010682197G → R in CTNSANN. 1 PublicationCorresponds to variant dbSNP:rs113994207EnsemblClinVar.1
Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features.
See also OMIM:219900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01067467 – 73Missing in CTNSJAN. 1 Publication7
Natural variantiVAR_010679154S → SPCS in CTNSJAN. 1
Natural variantiVAR_037319177N → T in CTNSJAN. 1 Publication1
Natural variantiVAR_037320200P → L in CTNSJAN. 1 Publication1
Natural variantiVAR_010287280K → R in CTNSJAN. 1 Publication1
Natural variantiVAR_010288323N → K in CTNSJAN. 2 PublicationsCorresponds to variant dbSNP:rs121908128EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1497
GeneReviewsiCTNS
MalaCardsiCTNS
MIMi219750 phenotype
219800 phenotype
219900 phenotype
OpenTargetsiENSG00000040531
Orphaneti411634 Juvenile nephropathic cystinosis
411629 Nephropathic infantile cystinosis
411641 Ocular cystinosis
PharmGKBiPA27019

Chemistry databases

DrugBankiDB00138 L-Cystine

Polymorphism and mutation databases

BioMutaiCTNS

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002055141 – 367CystinosinAdd BLAST367

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi36N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi51N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi66N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi104N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi107N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60931
PeptideAtlasiO60931
PRIDEiO60931
ProteomicsDBi49676
49677 [O60931-2]

PTM databases

iPTMnetiO60931
PhosphoSitePlusiO60931

Expressioni

Tissue specificityi

Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.1 Publication

Gene expression databases

BgeeiENSG00000040531 Expressed in 192 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CTNS
ExpressionAtlasiO60931 baseline and differential
GenevisibleiO60931 HS

Organism-specific databases

HPAiHPA046947

Interactioni

Protein-protein interaction databases

BioGridi107878, 1 interactor
IntActiO60931, 1 interactor
STRINGi9606.ENSP00000371294

Structurei

3D structure databases

ProteinModelPortaliO60931
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini123 – 189PQ-loop 1Add BLAST67
Domaini263 – 328PQ-loop 2Add BLAST66

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi362 – 366Lysosomal targeting motifSequence analysis5

Sequence similaritiesi

Belongs to the cystinosin family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3145 Eukaryota
ENOG410XQSD LUCA
GeneTreeiENSGT00390000005338
HOGENOMiHOG000192503
HOVERGENiHBG003083
InParanoidiO60931
KOiK12386
OMAiHSNQTGP
OrthoDBiEOG091G0BG6
PhylomeDBiO60931
TreeFamiTF313589

Family and domain databases

InterProiView protein in InterPro
IPR005282 LC_transporter
IPR006603 PQ-loop_rpt
PANTHERiPTHR13131 PTHR13131, 1 hit
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
SMARTiView protein in SMART
SM00679 CTNS, 2 hits
TIGRFAMsiTIGR00951 2A43, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60931-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MIRNWLTIFI LFPLKLVEKC ESSVSLTVPP VVKLENGSST NVSLTLRPPL
60 70 80 90 100
NATLVITFEI TFRSKNITIL ELPDEVVVPP GVTNSSFQVT SQNVGQLTVY
110 120 130 140 150
LHGNHSNQTG PRIRFLVIRS SAISIINQVI GWIYFVAWSI SFYPQVIMNW
160 170 180 190 200
RRKSVIGLSF DFVALNLTGF VAYSVFNIGL LWVPYIKEQF LLKYPNGVNP
210 220 230 240 250
VNSNDVFFSL HAVVLTLIII VQCCLYERGG QRVSWPAIGF LVLAWLFAFV
260 270 280 290 300
TMIVAAVGVT TWLQFLFCFS YIKLAVTLVK YFPQAYMNFY YKSTEGWSIG
310 320 330 340 350
NVLLDFTGGS FSLLQMFLQS YNNDQWTLIF GDPTKFGLGV FSIVFDVVFF
360
IQHFCLYRKR PGYDQLN
Length:367
Mass (Da):41,738
Last modified:November 24, 2009 - v2
Checksum:i9343889CD7576908
GO
Isoform 2 (identifier: O60931-2) [UniParc]FASTAAdd to basket
Also known as: cystinosin-LKG

The sequence of this isoform differs from the canonical sequence as follows:
     363-367: YDQLN → LQAARTGSGSRLRQDWAPSLQPKALPQTTSVSASSLKG

Show »
Length:400
Mass (Da):45,039
Checksum:i47AF39E14090DFC2
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L0Z6I3L0Z6_HUMAN
Cystinosin
CTNS
162Annotation score:
I3L1K8I3L1K8_HUMAN
Cystinosin
CTNS
28Annotation score:
A8MXW3A8MXW3_HUMAN
Cystinosin
CTNS
122Annotation score:
I3L484I3L484_HUMAN
Cystinosin
CTNS
53Annotation score:
C9JMM9C9JMM9_HUMAN
Cystinosin
CTNS
75Annotation score:
I3L4A9I3L4A9_HUMAN
Cystinosin
CTNS
20Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01028542V → I1 PublicationCorresponds to variant dbSNP:rs35086888EnsemblClinVar.1
Natural variantiVAR_01067467 – 73Missing in CTNSJAN. 1 Publication7
Natural variantiVAR_037318110G → V in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs121908129EnsemblClinVar.1
Natural variantiVAR_010677133I → F in CTNS. 1 PublicationCorresponds to variant dbSNP:rs886040970Ensembl.1
Natural variantiVAR_010678139S → F in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs267606754EnsemblClinVar.1
Natural variantiVAR_067490151R → G in CTNS. 1 Publication1
Natural variantiVAR_010679154S → SPCS in CTNSJAN. 1
Natural variantiVAR_067491157G → D in CTNS. 1 Publication1
Natural variantiVAR_010680158L → P in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994206EnsemblClinVar.1
Natural variantiVAR_010286169G → D in CTNS. 1 PublicationCorresponds to variant dbSNP:rs121908126EnsemblClinVar.1
Natural variantiVAR_067492173Y → C in CTNS. 1 Publication1
Natural variantiVAR_067493177N → S in CTNS. 1 Publication1
Natural variantiVAR_037319177N → T in CTNSJAN. 1 Publication1
Natural variantiVAR_010681182W → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs764168489EnsemblClinVar.1
Natural variantiVAR_010682197G → R in CTNSANN. 1 PublicationCorresponds to variant dbSNP:rs113994207EnsemblClinVar.1
Natural variantiVAR_037320200P → L in CTNSJAN. 1 Publication1
Natural variantiVAR_010683205D → N in CTNS. 1 PublicationCorresponds to variant dbSNP:rs113994208EnsemblClinVar.1
Natural variantiVAR_010684205Missing in CTNS. 1 Publication1
Natural variantiVAR_037321222Q → R in CTNS. 1 PublicationCorresponds to variant dbSNP:rs1327959008Ensembl.1
Natural variantiVAR_060371260T → I7 PublicationsCorresponds to variant dbSNP:rs161400EnsemblClinVar.1
Natural variantiVAR_010689270Missing in CTNS. 1 Publication1
Natural variantiVAR_010287280K → R in CTNSJAN. 1 Publication1
Natural variantiVAR_067494287M → I in CTNS. 1 PublicationCorresponds to variant dbSNP:rs922106812Ensembl.1
Natural variantiVAR_037322288N → K in CTNS. 1 Publication1
Natural variantiVAR_012314292K → R Found in patients with cystinosis; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1800527Ensembl.1
Natural variantiVAR_012315298S → N in CTNS. 1 Publication1
Natural variantiVAR_010690305D → G in CTNS. 1 Publication1
Natural variantiVAR_010691305D → Y in CTNS. 1 Publication1
Natural variantiVAR_010692308G → R in CTNS. 3 PublicationsCorresponds to variant dbSNP:rs746307931EnsemblClinVar.1
Natural variantiVAR_067495308G → V in CTNS. 1 PublicationCorresponds to variant dbSNP:rs908965524Ensembl.1
Natural variantiVAR_067496309G → D in CTNS. 1 Publication1
Natural variantiVAR_010288323N → K in CTNSJAN. 2 PublicationsCorresponds to variant dbSNP:rs121908128EnsemblClinVar.1
Natural variantiVAR_067497337G → R in CTNS. 1 Publication1
Natural variantiVAR_010694338L → P in CTNS. 1 Publication1
Natural variantiVAR_067498338L → R in CTNS. 1 Publication1
Natural variantiVAR_010695339G → R in CTNS. 4 PublicationsCorresponds to variant dbSNP:rs121908127EnsemblClinVar.1
Natural variantiVAR_010697343 – 346Missing in CTNS. 4
Natural variantiVAR_037323346 – 349Missing in CTNS. 4
Natural variantiVAR_010698346D → N in CTNS; atypical. 1 PublicationCorresponds to variant dbSNP:rs757535731Ensembl.1
Natural variantiVAR_037324349F → FDVEF in CTNS. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_038377363 – 367YDQLN → LQAARTGSGSRLRQDWAPSL QPKALPQTTSVSASSLKG in isoform 2. 2 Publications5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15924
, Y15925, Y15926, Y15927, Y15928, Y15929, Y15930, Y15931, Y15932, Y15933 Genomic DNA Translation: CAA75882.1
AJ222967 mRNA Translation: CAA11021.1
AF168787 Genomic DNA Translation: AAF43102.1
AK292019 mRNA Translation: BAF84708.1
AC027796 Genomic DNA No translation available.
AC132942 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90495.1
CH471108 Genomic DNA Translation: EAW90494.1
CH471108 Genomic DNA Translation: EAW90496.1
BC032850 mRNA Translation: AAH32850.1
AH008011 Genomic DNA Translation: AAD45630.1
CCDSiCCDS11031.1 [O60931-1]
CCDS32530.1 [O60931-2]
RefSeqiNP_001026851.2, NM_001031681.2 [O60931-2]
NP_004928.2, NM_004937.2 [O60931-1]
UniGeneiHs.187667

Genome annotation databases

EnsembliENST00000046640; ENSP00000046640; ENSG00000040531 [O60931-1]
ENST00000381870; ENSP00000371294; ENSG00000040531 [O60931-2]
GeneIDi1497
KEGGihsa:1497
UCSCiuc002fwa.4 human [O60931-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15924
, Y15925, Y15926, Y15927, Y15928, Y15929, Y15930, Y15931, Y15932, Y15933 Genomic DNA Translation: CAA75882.1
AJ222967 mRNA Translation: CAA11021.1
AF168787 Genomic DNA Translation: AAF43102.1
AK292019 mRNA Translation: BAF84708.1
AC027796 Genomic DNA No translation available.
AC132942 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90495.1
CH471108 Genomic DNA Translation: EAW90494.1
CH471108 Genomic DNA Translation: EAW90496.1
BC032850 mRNA Translation: AAH32850.1
AH008011 Genomic DNA Translation: AAD45630.1
CCDSiCCDS11031.1 [O60931-1]
CCDS32530.1 [O60931-2]
RefSeqiNP_001026851.2, NM_001031681.2 [O60931-2]
NP_004928.2, NM_004937.2 [O60931-1]
UniGeneiHs.187667

3D structure databases

ProteinModelPortaliO60931
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107878, 1 interactor
IntActiO60931, 1 interactor
STRINGi9606.ENSP00000371294

Chemistry databases

DrugBankiDB00138 L-Cystine

Protein family/group databases

TCDBi2.A.43.1.1 the lysosomal cystine transporter (lct) family

PTM databases

iPTMnetiO60931
PhosphoSitePlusiO60931

Polymorphism and mutation databases

BioMutaiCTNS

Proteomic databases

PaxDbiO60931
PeptideAtlasiO60931
PRIDEiO60931
ProteomicsDBi49676
49677 [O60931-2]

Protocols and materials databases

DNASUi1497
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000046640; ENSP00000046640; ENSG00000040531 [O60931-1]
ENST00000381870; ENSP00000371294; ENSG00000040531 [O60931-2]
GeneIDi1497
KEGGihsa:1497
UCSCiuc002fwa.4 human [O60931-1]

Organism-specific databases

CTDi1497
DisGeNETi1497
EuPathDBiHostDB:ENSG00000040531.14
GeneCardsiCTNS
GeneReviewsiCTNS
HGNCiHGNC:2518 CTNS
HPAiHPA046947
MalaCardsiCTNS
MIMi219750 phenotype
219800 phenotype
219900 phenotype
606272 gene
neXtProtiNX_O60931
OpenTargetsiENSG00000040531
Orphaneti411634 Juvenile nephropathic cystinosis
411629 Nephropathic infantile cystinosis
411641 Ocular cystinosis
PharmGKBiPA27019
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3145 Eukaryota
ENOG410XQSD LUCA
GeneTreeiENSGT00390000005338
HOGENOMiHOG000192503
HOVERGENiHBG003083
InParanoidiO60931
KOiK12386
OMAiHSNQTGP
OrthoDBiEOG091G0BG6
PhylomeDBiO60931
TreeFamiTF313589

Enzyme and pathway databases

ReactomeiR-HSA-425393 Transport of inorganic cations/anions and amino acids/oligopeptides
R-HSA-5223345 Miscellaneous transport and binding events

Miscellaneous databases

ChiTaRSiCTNS human
GeneWikiiCTNS_(gene)
GenomeRNAii1497
PROiPR:O60931
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000040531 Expressed in 192 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_CTNS
ExpressionAtlasiO60931 baseline and differential
GenevisibleiO60931 HS

Family and domain databases

InterProiView protein in InterPro
IPR005282 LC_transporter
IPR006603 PQ-loop_rpt
PANTHERiPTHR13131 PTHR13131, 1 hit
PfamiView protein in Pfam
PF04193 PQ-loop, 2 hits
SMARTiView protein in SMART
SM00679 CTNS, 2 hits
TIGRFAMsiTIGR00951 2A43, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCTNS_HUMAN
AccessioniPrimary (citable) accession number: O60931
Secondary accession number(s): D3DTJ5, Q8IZ01, Q9UNK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 24, 2009
Last modified: November 7, 2018
This is version 153 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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