Ctns (cystinosis, nephropathic) - Rat Genome Database

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Gene: Ctns (cystinosis, nephropathic) Mus musculus
Analyze
Symbol: Ctns
Name: cystinosis, nephropathic
RGD ID: 1318251
MGI Page MGI
Description: Enables L-cystine transmembrane transporter activity. Involved in positive regulation of TORC1 signaling. Acts upstream of or within several processes, including adult walking behavior; grooming behavior; and learning or memory. Located in lysosome. Used to study cystinosis. Human ortholog(s) of this gene implicated in cystinosis. Orthologous to human CTNS (cystinosin, lysosomal cystine transporter).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AI195360; AW049661; cystinosin
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,073,959 - 73,089,869 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1173,074,422 - 73,089,868 (-)EnsemblGRCm39 Ensembl
GRCm381173,183,133 - 73,199,115 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,183,596 - 73,199,042 (-)EnsemblGRCm38mm10GRCm38
MGSCv371172,996,635 - 73,012,521 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,999,328 - 73,015,214 (-)NCBIMGSCv36mm8
Celera1180,720,225 - 80,736,105 (-)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.25NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Anikster Y, etal., Mol Genet Metab. 1999 Feb;66(2):111-6.
2. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Anikster Y, etal., Pediatr Res. 2000 Jan;47(1):17-23.
3. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Cherqui S, etal., Mol Cell Biol. 2002 Nov;22(21):7622-32.
4. Gene transfer may be preventive but not curative for a lysosomal transport disorder. Hippert C, etal., Mol Ther. 2008 Aug;16(8):1372-81. doi: 10.1038/mt.2008.126. Epub 2008 Jun 24.
5. Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis. Hollywood JA, etal., Am J Physiol Renal Physiol. 2022 Aug 1;323(2):F156-F170. doi: 10.1152/ajprenal.00277.2021. Epub 2022 Jun 13.
6. Cathepsin gene expression profile in rat acute pneumococcal otitis media. Li-Korotky HS, etal., Laryngoscope 2004 Jun;114(6):1032-6.
7. MGDs mouse GO annotations MGD data from the GO Consortium
8. MGD IEA MGD IEA
9. Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. Napolitano G, etal., EMBO Mol Med. 2015 Feb;7(2):158-74. doi: 10.15252/emmm.201404223.
10. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. Mouse MP Annotation Import Pipeline RGD automated import pipeline
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation. Rocca CJ, etal., Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7214-23. doi: 10.1167/iovs.15-17107.
17. A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. Rupar CA, etal., J Med Genet. 2001 Sep;38(9):615-6.
18. CTNS mutations in an American-based population of cystinosis patients. Shotelersuk V, etal., Am J Hum Genet. 1998 Nov;63(5):1352-62.
19. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Town M, etal., Nat Genet. 1998 Apr;18(4):319-24.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:11042159   PMID:11076861   PMID:11121245   PMID:11217851   PMID:12477932   PMID:15489334   PMID:15782199   PMID:16141072   PMID:16141073   PMID:16602821  
PMID:17597652   PMID:17977621   PMID:18322545   PMID:18337546   PMID:19506297   PMID:19846395   PMID:20413906   PMID:21873635   PMID:21897743   PMID:22065917   PMID:22578532   PMID:22649030  
PMID:23716592   PMID:24319100   PMID:24525030   PMID:24950692   PMID:25694483   PMID:25811319   PMID:26449607   PMID:26812160   PMID:28465352   PMID:29323117   PMID:30794806   PMID:30892133  
PMID:30928021   PMID:31548351   PMID:34823997   PMID:37452023   PMID:39096619  


Genomics

Comparative Map Data
Ctns
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,073,959 - 73,089,869 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1173,074,422 - 73,089,868 (-)EnsemblGRCm39 Ensembl
GRCm381173,183,133 - 73,199,115 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,183,596 - 73,199,042 (-)EnsemblGRCm38mm10GRCm38
MGSCv371172,996,635 - 73,012,521 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,999,328 - 73,015,214 (-)NCBIMGSCv36mm8
Celera1180,720,225 - 80,736,105 (-)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.25NCBI
CTNS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,636,459 - 3,663,103 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,636,459 - 3,663,103 (+)EnsemblGRCh38hg38GRCh38
GRCh37173,539,753 - 3,566,397 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,486,511 - 3,513,146 (+)NCBINCBI36Build 36hg18NCBI36
Build 34173,486,764 - 3,511,581NCBI
Celera173,553,503 - 3,580,136 (+)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,431,470 - 3,458,104 (+)NCBIHuRef
CHM1_1173,550,519 - 3,577,033 (+)NCBICHM1_1
T2T-CHM13v2.0173,525,479 - 3,552,155 (+)NCBIT2T-CHM13v2.0
Ctns
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,300,069 - 58,315,725 (-)NCBIGRCr8
mRatBN7.21057,801,551 - 57,817,213 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,801,456 - 57,817,120 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,457,670 - 62,472,814 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,946,129 - 61,961,279 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,445,282 - 57,460,420 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,749,250 - 59,772,475 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,749,256 - 59,764,868 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,488,895 - 59,503,993 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41060,060,254 - 60,075,352 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11060,074,699 - 60,089,377 (-)NCBI
Celera1056,924,889 - 56,939,979 (-)NCBICelera
Cytogenetic Map10q24NCBI
Ctns
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546713,151,957 - 13,168,696 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546713,151,663 - 13,169,005 (-)NCBIChiLan1.0ChiLan1.0
CTNS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,248,304 - 11,273,241 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,214,005 - 13,238,748 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,686,903 - 3,711,857 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,683,562 - 3,708,253 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,683,575 - 3,708,253 (+)Ensemblpanpan1.1panPan2
CTNS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,474,488 - 47,490,951 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,473,901 - 47,490,252 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,636,879 - 46,653,680 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,319,984 - 48,336,779 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,320,217 - 48,336,770 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,097,771 - 47,114,551 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,386,873 - 47,403,672 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,442,508 - 47,459,300 (+)NCBIUU_Cfam_GSD_1.0
Ctns
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,540,083 - 55,557,805 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677343,042 - 360,879 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677342,964 - 360,890 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTNS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,730,955 - 49,753,043 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,730,741 - 49,754,362 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,592,126 - 51,613,331 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103242158
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,138,716 - 3,164,512 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,138,734 - 3,164,625 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,663,688 - 18,691,499 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ctns
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,298,243 - 6,317,743 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,296,975 - 6,318,266 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Ctns
4 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1386
Count of miRNA genes:506
Interacting mature miRNAs:596
Transcripts:ENSMUST00000006103, ENSMUST00000108476, ENSMUST00000130101, ENSMUST00000144658, ENSMUST00000150468
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
27226783Tibl5_mtibia length 5, 5 week (mouse)1168190826101890826Mouse
1300628Lgth6_mbody length 6 (mouse)Not determined1166733420100733652Mouse
4141367Inf1_macute ozone induced inflammation (mouse)Not determined44630038113058009Mouse
1558812Rafar_mretinoic acid induced forelimb autopod reduction (mouse)Not determined1170691198104691366Mouse
1300765Bbaa4_mB.burgdorferi-associated arthritis 4 (mouse)Not determined114618516780185262Mouse
1301404Sbmd4_mspinal bone mineral density 4 (mouse)Not determined1172019649106019734Mouse
1302021Nidd1n_mnon-insulin-dependent diabetes mellitus 1 in NSY (mouse)Not determined114516587379978324Mouse
4142121Tmc1m2_mTmc1 modifier 2 (mouse)Not determined1156864027114157957Mouse
4141982Skts-fp2_mskin tumor susceptibility in FVB and PWK 2 (mouse)Not determined5871926685066529Mouse
1357878Mastr_mmodifier of astrocytoma (mouse)Not determined114570858189818733Mouse
1301681Sle13_msystematic lupus erythematosus susceptibility 13 (mouse)Not determined1170691198104691366Mouse
1300784Prdt3_mprion disease incubation time 3 (mouse)Not determined1166733420100733652Mouse
4141339Nilac2_mnicotine induced locomotor activity 2 (mouse)Not determined1170691198104691366Mouse
11039501Ltpr6a_mLeishmania tropica response 6a (mouse)116483033698830473Mouse
13208559Wght10_mweight 10 (mouse)11395000088890826Mouse
13524840Ppiq9a_mprepulse inhibition QTL 9a (mouse)115249438586494385Mouse
11039502Ltpr6b_mLeishmania tropica response 6b (mouse)116483033698830473Mouse
13208558Lgth12_mbody length 12 (mouse)11395000094890826Mouse
1300664Etohcta9_methanol conditioned taste aversion 9 (mouse)Not determined115775466091754758Mouse
10053682Eae45_mexperimental allergic encephalomyelitis susceptibility 45 (mouse)Not determined115849055574754758Mouse
1301310Tmevd5_mTheiler's murine encephalomyelitis virus induced demyelinating disease susceptibility 5 (mouse)Not determined1172726125106726289Mouse
1300924Ity2_mimmunity to S. typhimurium 2 (mouse)Not determined15850803087695238Mouse
13208569Bmiq10_mbody mass index QTL 10 (mouse)113589082784890826Mouse
11039515Ltpr6_mLeishmania tropica response 6 (mouse)116483033698830473Mouse
4142348Pstc2_mperiosteal circumference 2 (mouse)Not determined1172818615106818733Mouse
11532699Sluc36b_msusceptibility to lung cancer 36b (mouse)114225661776256730Mouse
11532698Sluc36a_msusceptibility to lung cancer 36a (mouse)114225661776256730Mouse
1300774Pgia7_mproteoglycan induced arthritis 7 (mouse)Not determined115339058887390737Mouse
1300651Pcyts3_mplasmacytoma susceptibility 3 (mouse)Not determined1170691198104691366Mouse
4141830Pregq1_mpregnancy QTL 1 (mouse)Not determined115412675283733652Mouse
1301546Pcir2_mperiosteal circumference 2 (mouse)Not determined1166733420100733652Mouse
1300905Scc6_mcolon tumor susceptibility 6 (mouse)Not determined11688027789019734Mouse
39128214Lwq20_mliver weight QTL 20 (mouse)1112268637118022724Mouse
1301328Mol4_mmodifier of LPS-response 4 (mouse)Not determined113628257783481356Mouse
10043866Adip19_madiposity 19 (mouse)Not determined1172818615106818733Mouse
1301078Alcp2_malcohol preference locus 2 (mouse)Not determined117220979684731462Mouse
10412246Dfs2_mdental fluorosis suseptibility 2 (mouse)Not determined112180736495881231Mouse
1357766Si5lq6_mserum IGFBP-5 level QTL 6 (mouse)Not determined1166733420100733652Mouse
4142316Ity2b_mimmunity to S. typhimurium 2b (mouse)Not determined116707819179813912Mouse
1301319Dautb4_mdopamine uptake transporter binding 4 (mouse)Not determined116215600596156153Mouse
1301830Ssta4_msusceptibility to Salmonella typhimurium antigens 4 (mouse)Not determined115007819184078411Mouse
1301833Tbbmd5_mtotal body bone mineral density 5 (mouse)Not determined1166733420100733652Mouse
4142300Ctrq3_mC. trachomatis resistance QTL 3 (mouse)Not determined114463003876854757Mouse
4141012Femwf6_mfemur work to failure 6 (mouse)Not determined66733420100733652Mouse
1301987Pid3_mprior incubation determinant 3 (mouse)Not determined116168682088699728Mouse
27226730Tibmd1_mtibia midshaft diameter 1, 5 week (mouse)1162590826109390826Mouse
1301988Bmd11_mbone mineral density 11 (mouse)Not determined114631940780319522Mouse
4141894Nidd6k_mNidd6 on KK-A (mouse)Not determined1912420496897826Mouse
1301999Lmr15_mleishmaniasis resistance 15 (mouse)Not determined116331940781830473Mouse
10044004Stzid3_mstreptozotocin induced diabetes susceptibility 3 (mouse)Not determined116331940794063918Mouse

Markers in Region
RH135946  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381173,184,888 - 73,185,040UniSTSGRCm38
MGSCv371172,998,390 - 72,998,542UniSTSGRCm37
Celera1180,721,976 - 80,722,128UniSTS
Cytogenetic Map11B4UniSTS
AW049661  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381173,183,739 - 73,183,853UniSTSGRCm38
MGSCv371172,997,241 - 72,997,355UniSTSGRCm37
Celera1180,720,827 - 80,720,941UniSTS
Cytogenetic Map11B4UniSTS
Ctns  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381173,184,192 - 73,184,390UniSTSGRCm38
MGSCv371172,997,694 - 72,997,892UniSTSGRCm37
Celera1180,721,280 - 80,721,478UniSTS
Cytogenetic Map11B4UniSTS
cM Map11 UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001357891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001357892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006534535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006534536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011249323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011249325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030246439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030246440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030246441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ250670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK078511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK079295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK085517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK137143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK170790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK170828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK182932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK189600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL670399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW049661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CU210936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CU234134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000006103   ⟹   ENSMUSP00000006103
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1173,074,422 - 73,089,868 (-)Ensembl
GRCm38.p6 Ensembl1173,183,596 - 73,199,042 (-)Ensembl
Ensembl Acc Id: ENSMUST00000108476   ⟹   ENSMUSP00000104116
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1173,074,423 - 73,089,868 (-)Ensembl
GRCm38.p6 Ensembl1173,183,597 - 73,199,042 (-)Ensembl
Ensembl Acc Id: ENSMUST00000130101
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1173,077,178 - 73,079,632 (-)Ensembl
GRCm38.p6 Ensembl1173,186,352 - 73,188,806 (-)Ensembl
Ensembl Acc Id: ENSMUST00000144658
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1173,082,137 - 73,089,847 (-)Ensembl
GRCm38.p6 Ensembl1173,191,311 - 73,199,021 (-)Ensembl
Ensembl Acc Id: ENSMUST00000150468
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1173,082,539 - 73,089,821 (-)Ensembl
GRCm38.p6 Ensembl1173,191,713 - 73,198,995 (-)Ensembl
RefSeq Acc Id: NM_001357891   ⟹   NP_001344820
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,868 (-)NCBI
GRCm381173,183,596 - 73,199,042 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001357892   ⟹   NP_001344821
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,868 (-)NCBI
GRCm381173,183,596 - 73,199,042 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031251   ⟹   NP_112541
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,073,959 - 73,089,845 (-)NCBI
GRCm381173,183,133 - 73,199,019 (-)NCBI
MGSCv371172,996,635 - 73,012,521 (-)RGD
Celera1180,720,225 - 80,736,105 (-)RGD
cM Map11 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006534535   ⟹   XP_006534598
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,869 (-)NCBI
GRCm381173,183,596 - 73,199,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006534536   ⟹   XP_006534599
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,869 (-)NCBI
GRCm381173,183,596 - 73,199,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011249323   ⟹   XP_011247625
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,581 (-)NCBI
GRCm381173,183,596 - 73,198,755 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011249325   ⟹   XP_011247627
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,075,185 - 73,089,869 (-)NCBI
GRCm381173,184,366 - 73,198,755 (-)NCBI
Sequence:
RefSeq Acc Id: XM_030246439   ⟹   XP_030102299
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,869 (-)NCBI
GRCm381173,183,596 - 73,199,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_030246440   ⟹   XP_030102300
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,869 (-)NCBI
GRCm381173,183,596 - 73,199,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_030246441   ⟹   XP_030102301
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391173,074,422 - 73,089,869 (-)NCBI
GRCm381173,183,596 - 73,199,115 (-)NCBI
Sequence:
RefSeq Acc Id: NP_112541   ⟸   NM_031251
- Peptide Label: precursor
- UniProtKB: P57757 (UniProtKB/Swiss-Prot),   Q542U5 (UniProtKB/TrEMBL),   Q3TC99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006534599   ⟸   XM_006534536
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006534598   ⟸   XM_006534535
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011247627   ⟸   XM_011249325
- Peptide Label: isoform X4
- UniProtKB: Q3TC99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011247625   ⟸   XM_011249323
- Peptide Label: isoform X1
- UniProtKB: Q3TC99 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_030102299   ⟸   XM_030246439
- Peptide Label: isoform X2
- UniProtKB: Q3TC99 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_030102301   ⟸   XM_030246441
- Peptide Label: isoform X3
RefSeq Acc Id: XP_030102300   ⟸   XM_030246440
- Peptide Label: isoform X2
- UniProtKB: Q3TC99 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001344820   ⟸   NM_001357891
- Peptide Label: precursor
- UniProtKB: P57757 (UniProtKB/Swiss-Prot),   Q542U5 (UniProtKB/TrEMBL),   Q3TC99 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001344821   ⟸   NM_001357892
- Peptide Label: precursor
- UniProtKB: P57757 (UniProtKB/Swiss-Prot),   Q542U5 (UniProtKB/TrEMBL),   Q3TC99 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSMUSP00000006103   ⟸   ENSMUST00000006103
Ensembl Acc Id: ENSMUSP00000104116   ⟸   ENSMUST00000108476
Protein Domains
PQ-loop

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P57757-F1-model_v2 AlphaFold P57757 1-367 view protein structure

Promoters
RGD ID:6820671
Promoter ID:MM_KWN:8361
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:MEF_B6
Transcripts:OTTMUST00000013850
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361173,001,561 - 73,002,061 (-)MPROMDB
RGD ID:6822096
Promoter ID:MM_KWN:8362
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000013846,   OTTMUST00000013848,   OTTMUST00000013849,   OTTMUST00000013856,   OTTMUST00000013857,   UC007KAF.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361173,012,441 - 73,013,167 (+)MPROMDB
RGD ID:8675482
Promoter ID:EPDNEW_M15772
Type:initiation region
Name:Ctns_1
Description:Mus musculus cystinosis, nephropathic , transcript variant 1,mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381173,199,039 - 73,199,099EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1932872 AgrOrtholog
Ensembl Genes ENSMUSG00000005949 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000006103 ENTREZGENE
  ENSMUST00000006103.9 UniProtKB/Swiss-Prot
  ENSMUST00000108476 ENTREZGENE
  ENSMUST00000108476.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1280.290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro LC_transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PQ-loop_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:83429 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:1932872 ENTREZGENE
NCBI Gene 83429 ENTREZGENE
PANTHER CYSTINOSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PQ-loop UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Ctns PhenoGen
SMART CTNS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CTNS_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q3TC99 ENTREZGENE, UniProtKB/TrEMBL
  Q542U5 ENTREZGENE, UniProtKB/TrEMBL