Human Gene CTSD (ENST00000236671.7) from GENCODE V44
  Description: Homo sapiens cathepsin D (CTSD), mRNA. (from RefSeq NM_001909)
RefSeq Summary (NM_001909): This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015].
Gencode Transcript: ENST00000236671.7
Gencode Gene: ENSG00000117984.15
Transcript (Including UTRs)
   Position: hg38 chr11:1,752,755-1,763,927 Size: 11,173 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chr11:1,753,503-1,763,859 Size: 10,357 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:1,752,755-1,763,927)mRNA (may differ from genome)Protein (412 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CTSD
Diseases sorted by gene-association score: ceroid lipofuscinosis, neuronal, 10* (1698), neuronal ceroid-lipofuscinoses* (48), neuronal ceroid lipofuscinosis (19), bone chondrosarcoma (16), breast cancer (15), endometrial clear cell adenocarcinoma (15), rosai-dorfman disease (15), colonic disease (14), breast disease (14), breast ductal carcinoma (10), ceroid lipofuscinosis, neuronal, 3 (9), breast cyst (9), adenosquamous gallbladder carcinoma (8), phacolytic glaucoma (8), ceroid lipofuscinosis, neuronal, 2 (8), larynx cancer (8), alzheimer disease (8), inclusion-cell disease (8), mucolipidosis iii alpha/beta (7), endometrial adenocarcinoma (6), ceroid lipofuscinosis, neuronal, 1 (5), infiltrating lipoma (5), alzheimer disease-2 (4), cholesterol ester storage disease (4), ceroid lipofuscinosis, neuronal, 11 (4), ichthyosis, congenital, autosomal recessive 1 (4), multiple sulfatase deficiency (4), endometrial cancer (3), colorectal cancer (3), breast adenocarcinoma (2), macular degeneration, age-related, 1 (2), ovarian cancer, somatic (2), prostate cancer (2), meningioma, familial (1), hirschsprung disease 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 781.16 RPKM in Adrenal Gland
Total median expression: 10659.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.7068-0.378 Picture PostScript Text
3' UTR -344.60748-0.461 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsemblWormBaseSGD
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Descriptions from all associated GenBank mRNAs
  LF207980 - JP 2014500723-A/15483: Polycomb-Associated Non-Coding RNAs.
MA443557 - JP 2018138019-A/15483: Polycomb-Associated Non-Coding RNAs.
BC001574 - Homo sapiens cathepsin D, mRNA (cDNA clone IMAGE:3455250).
X05344 - Human mRNA for cathepsin D from oestrogen responsive breast cancer cells.
AK130178 - Homo sapiens cDNA FLJ26668 fis, clone MPG03026, highly similar to Cathepsin D precursor (EC 3.4.23.5).
BC016320 - Homo sapiens cathepsin D, mRNA (cDNA clone MGC:2311 IMAGE:3506977), complete cds.
EU794598 - Homo sapiens epididymis secretory sperm binding protein Li 130P (HEL-S-130P) mRNA, complete cds.
M11233 - Human cathepsin D mRNA, complete cds.
HI635180 - Sequence 41027 from Patent EP2242854.
HV708949 - JP 2012506450-A/47: Methods for treating eye disorders.
HW061189 - JP 2012529430-A/64: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482168 - Sequence 151 from Patent WO2011072091.
JB251997 - Sequence 64 from Patent EP2440214.
JE980460 - Sequence 151 from Patent EP2862929.
LP764896 - Sequence 64 from Patent EP3276004.
LF370652 - JP 2014500723-A/178155: Polycomb-Associated Non-Coding RNAs.
MA606229 - JP 2018138019-A/178155: Polycomb-Associated Non-Coding RNAs.
JD322326 - Sequence 303350 from Patent EP1572962.
JD164049 - Sequence 145073 from Patent EP1572962.
JD195370 - Sequence 176394 from Patent EP1572962.
JD207949 - Sequence 188973 from Patent EP1572962.
JD560806 - Sequence 541830 from Patent EP1572962.
JD070895 - Sequence 51919 from Patent EP1572962.
LF370653 - JP 2014500723-A/178156: Polycomb-Associated Non-Coding RNAs.
MA606230 - JP 2018138019-A/178156: Polycomb-Associated Non-Coding RNAs.
JD458737 - Sequence 439761 from Patent EP1572962.
DL492344 - Novel nucleic acids.
DL490833 - Novel nucleic acids.
JD466472 - Sequence 447496 from Patent EP1572962.
LF370654 - JP 2014500723-A/178157: Polycomb-Associated Non-Coding RNAs.
MA606231 - JP 2018138019-A/178157: Polycomb-Associated Non-Coding RNAs.
JD201779 - Sequence 182803 from Patent EP1572962.
JD399767 - Sequence 380791 from Patent EP1572962.
JD192402 - Sequence 173426 from Patent EP1572962.
JD476383 - Sequence 457407 from Patent EP1572962.
JD054296 - Sequence 35320 from Patent EP1572962.
JD210729 - Sequence 191753 from Patent EP1572962.
JD351269 - Sequence 332293 from Patent EP1572962.
JD127843 - Sequence 108867 from Patent EP1572962.
LF370655 - JP 2014500723-A/178158: Polycomb-Associated Non-Coding RNAs.
MA606232 - JP 2018138019-A/178158: Polycomb-Associated Non-Coding RNAs.
JD155127 - Sequence 136151 from Patent EP1572962.
JD200457 - Sequence 181481 from Patent EP1572962.
JD272565 - Sequence 253589 from Patent EP1572962.
JD313735 - Sequence 294759 from Patent EP1572962.
JD550037 - Sequence 531061 from Patent EP1572962.
JD361412 - Sequence 342436 from Patent EP1572962.
JD415311 - Sequence 396335 from Patent EP1572962.
JD106432 - Sequence 87456 from Patent EP1572962.
JD117444 - Sequence 98468 from Patent EP1572962.
LF370657 - JP 2014500723-A/178160: Polycomb-Associated Non-Coding RNAs.
MA606234 - JP 2018138019-A/178160: Polycomb-Associated Non-Coding RNAs.
BT006910 - Homo sapiens cathepsin D (lysosomal aspartyl protease) mRNA, complete cds.
BT020155 - Homo sapiens cathepsin D (lysosomal aspartyl protease) mRNA, complete cds.
DQ893547 - Synthetic construct clone IMAGE:100006177; FLH165213.01X; RZPDo839H04158D cathepsin D (lysosomal aspartyl peptidase) (CTSD) gene, encodes complete protein.
KJ891000 - Synthetic construct Homo sapiens clone ccsbBroadEn_00394 CTSD gene, encodes complete protein.
DQ893878 - Synthetic construct Homo sapiens clone IMAGE:100008338; FLH165209.01L; RZPDo839H04157D cathepsin D (lysosomal aspartyl peptidase) (CTSD) gene, encodes complete protein.
KU178007 - Homo sapiens cathepsin D isoform 1 (CTSD) mRNA, partial cds.
KU178008 - Homo sapiens cathepsin D isoform 2 (CTSD) mRNA, partial cds, alternatively spliced.
AB528530 - Synthetic construct DNA, clone: pF1KB5292, Homo sapiens CTSD gene for cathepsin D, without stop codon, in Flexi system.
LF370659 - JP 2014500723-A/178162: Polycomb-Associated Non-Coding RNAs.
MA606236 - JP 2018138019-A/178162: Polycomb-Associated Non-Coding RNAs.
CR456947 - Homo sapiens full open reading frame cDNA clone RZPDo834E1218D for gene CTSD, cathepsin D (lysosomal aspartyl protease); complete cds, incl. stopcodon.
LF370661 - JP 2014500723-A/178164: Polycomb-Associated Non-Coding RNAs.
MA606238 - JP 2018138019-A/178164: Polycomb-Associated Non-Coding RNAs.
LF370663 - JP 2014500723-A/178166: Polycomb-Associated Non-Coding RNAs.
MA606240 - JP 2018138019-A/178166: Polycomb-Associated Non-Coding RNAs.
LF370665 - JP 2014500723-A/178168: Polycomb-Associated Non-Coding RNAs.
MA606242 - JP 2018138019-A/178168: Polycomb-Associated Non-Coding RNAs.
LF370667 - JP 2014500723-A/178170: Polycomb-Associated Non-Coding RNAs.
MA606244 - JP 2018138019-A/178170: Polycomb-Associated Non-Coding RNAs.
LF370673 - JP 2014500723-A/178176: Polycomb-Associated Non-Coding RNAs.
MA606250 - JP 2018138019-A/178176: Polycomb-Associated Non-Coding RNAs.
DL491984 - Novel nucleic acids.
DL490537 - Novel nucleic acids.
LF370674 - JP 2014500723-A/178177: Polycomb-Associated Non-Coding RNAs.
MA606251 - JP 2018138019-A/178177: Polycomb-Associated Non-Coding RNAs.
CU677605 - Synthetic construct Homo sapiens gateway clone IMAGE:100019285 5' read CTSD mRNA.
LF370675 - JP 2014500723-A/178178: Polycomb-Associated Non-Coding RNAs.
MA606252 - JP 2018138019-A/178178: Polycomb-Associated Non-Coding RNAs.
LF370676 - JP 2014500723-A/178179: Polycomb-Associated Non-Coding RNAs.
MA606253 - JP 2018138019-A/178179: Polycomb-Associated Non-Coding RNAs.
JD128949 - Sequence 109973 from Patent EP1572962.
JD458441 - Sequence 439465 from Patent EP1572962.
JD209784 - Sequence 190808 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04142 - Lysosome

BioCyc Knowledge Library
PWY-6241 - thyroid hormone biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_mta3Pathway - Downregulated of MTA-3 in ER-negative Breast Tumors

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000236671.1, ENST00000236671.2, ENST00000236671.3, ENST00000236671.4, ENST00000236671.5, ENST00000236671.6, NM_001909, uc001luc.1, uc001luc.2, uc001luc.3, V9HWI3
UCSC ID: ENST00000236671.7
RefSeq Accession: NM_001909
CCDS: CCDS7725.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CTSD:
dystonia-ov (Hereditary Dystonia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.