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Protein

Cystinosin

Gene

CTNS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • adult walking behavior Source: Ensembl
  • ATP metabolic process Source: UniProtKB
  • brain development Source: UniProtKB
  • cellular amino acid metabolic process Source: UniProtKB
  • cognition Source: UniProtKB
  • glutathione metabolic process Source: UniProtKB
  • grooming behavior Source: Ensembl
  • ion transport Source: Reactome
  • L-cystine transport Source: MGI
  • lens development in camera-type eye Source: Ensembl
  • long-term memory Source: Ensembl
  • melanin biosynthetic process Source: UniProtKB-KW
  • transmembrane transport Source: Reactome
  • visual learning Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Melanin biosynthesis, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000040531-MONOMER.
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

HGNCiHGNC:2518. CTNS.

Subcellular locationi

Isoform 1 :
Isoform 2 :

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

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • intermediate filament cytoskeleton Source: HPA
  • intracellular membrane-bounded organelle Source: HPA
  • late endosome Source: UniProtKB
  • lysosomal membrane Source: UniProtKB
  • lysosome Source: MGI
  • melanosome Source: UniProtKB-SubCell
  • plasma membrane Source: MGI
Complete GO annotation...

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_01067467 – 73Missing in CTNSJAN. 1 Publication7
Natural variantiVAR_037318110G → V in CTNS; atypical. 1 PublicationCorresponds to variant rs121908129dbSNPEnsembl.1
Natural variantiVAR_010677133I → F in CTNS. 1 Publication1
Natural variantiVAR_010678139S → F in CTNS; atypical. 1 PublicationCorresponds to variant rs267606754dbSNPEnsembl.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 rs113994206dbSNPEnsembl.1
Natural variantiVAR_010286169G → D in CTNS. 1 PublicationCorresponds to variant rs121908126dbSNPEnsembl.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 rs764168489dbSNPEnsembl.1
Natural variantiVAR_010682197G → R in CTNSANN. 1 PublicationCorresponds to variant rs113994207dbSNPEnsembl.1
Natural variantiVAR_037320200P → L in CTNSJAN. 1 Publication1
Natural variantiVAR_010683205D → N in CTNS. 1 PublicationCorresponds to variant rs113994208dbSNPEnsembl.1
Natural variantiVAR_010684205Missing in CTNS. 1 Publication1
Natural variantiVAR_037321222Q → R in CTNS. 1 Publication1
Natural variantiVAR_010689270Missing in CTNS. 1 Publication1
Natural variantiVAR_010287280K → R in CTNSJAN. 1 Publication1
Natural variantiVAR_067494287M → I in CTNS. 1 Publication1
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 rs746307931dbSNPEnsembl.1
Natural variantiVAR_067495308G → V in CTNS. 1 Publication1
Natural variantiVAR_067496309G → D in CTNS. 1 Publication1
Natural variantiVAR_010288323N → K in CTNSJAN. 2 PublicationsCorresponds to variant rs121908128dbSNPEnsembl.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 rs121908127dbSNPEnsembl.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 rs757535731dbSNPEnsembl.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 rs113994207dbSNPEnsembl.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 rs121908128dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1497.
MalaCardsiCTNS.
MIMi219750. phenotype.
219800. phenotype.
219900. phenotype.
OpenTargetsiENSG00000040531.
Orphaneti213. 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...)Sequence analysis1
Glycosylationi41N-linked (GlcNAc...)Sequence analysis1
Glycosylationi51N-linked (GlcNAc...)Sequence analysis1
Glycosylationi66N-linked (GlcNAc...)Sequence analysis1
Glycosylationi84N-linked (GlcNAc...)Sequence analysis1
Glycosylationi104N-linked (GlcNAc...)Sequence analysis1
Glycosylationi107N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO60931.
PeptideAtlasiO60931.
PRIDEiO60931.

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.
CleanExiHS_CTNS.
ExpressionAtlasiO60931. baseline and differential.
GenevisibleiO60931. HS.

Organism-specific databases

HPAiHPA046947.

Interactioni

Protein-protein interaction databases

BioGridi107878. 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
Contains 2 PQ-loop domains.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiIPR005282. LC_transporter.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERiPTHR13131. PTHR13131. 1 hit.
PfamiPF04193. PQ-loop. 2 hits.
[Graphical view]
SMARTiSM00679. CTNS. 2 hits.
[Graphical view]
TIGRFAMsiTIGR00951. 2A43. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01028542V → I.1 PublicationCorresponds to variant rs35086888dbSNPEnsembl.1
Natural variantiVAR_01067467 – 73Missing in CTNSJAN. 1 Publication7
Natural variantiVAR_037318110G → V in CTNS; atypical. 1 PublicationCorresponds to variant rs121908129dbSNPEnsembl.1
Natural variantiVAR_010677133I → F in CTNS. 1 Publication1
Natural variantiVAR_010678139S → F in CTNS; atypical. 1 PublicationCorresponds to variant rs267606754dbSNPEnsembl.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 rs113994206dbSNPEnsembl.1
Natural variantiVAR_010286169G → D in CTNS. 1 PublicationCorresponds to variant rs121908126dbSNPEnsembl.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 rs764168489dbSNPEnsembl.1
Natural variantiVAR_010682197G → R in CTNSANN. 1 PublicationCorresponds to variant rs113994207dbSNPEnsembl.1
Natural variantiVAR_037320200P → L in CTNSJAN. 1 Publication1
Natural variantiVAR_010683205D → N in CTNS. 1 PublicationCorresponds to variant rs113994208dbSNPEnsembl.1
Natural variantiVAR_010684205Missing in CTNS. 1 Publication1
Natural variantiVAR_037321222Q → R in CTNS. 1 Publication1
Natural variantiVAR_060371260T → I.7 PublicationsCorresponds to variant rs161400dbSNPEnsembl.1
Natural variantiVAR_010689270Missing in CTNS. 1 Publication1
Natural variantiVAR_010287280K → R in CTNSJAN. 1 Publication1
Natural variantiVAR_067494287M → I in CTNS. 1 Publication1
Natural variantiVAR_037322288N → K in CTNS. 1 Publication1
Natural variantiVAR_012314292K → R Found in patients with cystinosis; uncertain pathological significance. 1 PublicationCorresponds to variant rs1800527dbSNPEnsembl.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 rs746307931dbSNPEnsembl.1
Natural variantiVAR_067495308G → V in CTNS. 1 Publication1
Natural variantiVAR_067496309G → D in CTNS. 1 Publication1
Natural variantiVAR_010288323N → K in CTNSJAN. 2 PublicationsCorresponds to variant rs121908128dbSNPEnsembl.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 rs121908127dbSNPEnsembl.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 rs757535731dbSNPEnsembl.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

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.
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.

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.
GeneCardsiCTNS.
GeneReviewsiCTNS.
HGNCiHGNC:2518. CTNS.
HPAiHPA046947.
MalaCardsiCTNS.
MIMi219750. phenotype.
219800. phenotype.
219900. phenotype.
606272. gene.
neXtProtiNX_O60931.
OpenTargetsiENSG00000040531.
Orphaneti213. Cystinosis.
PharmGKBiPA27019.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000040531-MONOMER.
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.
PROiO60931.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000040531.
CleanExiHS_CTNS.
ExpressionAtlasiO60931. baseline and differential.
GenevisibleiO60931. HS.

Family and domain databases

InterProiIPR005282. LC_transporter.
IPR006603. PQ-loop_rpt.
[Graphical view]
PANTHERiPTHR13131. PTHR13131. 1 hit.
PfamiPF04193. PQ-loop. 2 hits.
[Graphical view]
SMARTiSM00679. CTNS. 2 hits.
[Graphical view]
TIGRFAMsiTIGR00951. 2A43. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCTNS_HUMAN
AccessioniPrimary (citable) accession number: O60931
Secondary accession number(s): D3DTJ5, Q8IZ01, Q9UNK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 24, 2009
Last modified: November 2, 2016
This is version 142 of the entry and version 2 of the sequence. [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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.