Human Gene CTSD (ENST00000236671.7_11) from GENCODE V47lift37
Description: cathepsin D (from RefSeq NM_001909.5)
Gencode Transcript: ENST00000236671.7_11
Gencode Gene: ENSG00000117984.15_14
Transcript (Including UTRs)
Position: hg19 chr11:1,773,985-1,785,157 Size: 11,173 Total Exon Count: 9 Strand: -
Coding Region
Position: hg19 chr11:1,774,733-1,785,089 Size: 10,357 Coding Exon Count: 9
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
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)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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.
Descriptions from all associated GenBank mRNAs
LF207980 - JP 2014500723-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.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.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.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.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.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.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.LF370663 - JP 2014500723-A/178166: Polycomb-Associated Non-Coding RNAs.LF370665 - JP 2014500723-A/178168: Polycomb-Associated Non-Coding RNAs.LF370667 - JP 2014500723-A/178170: Polycomb-Associated Non-Coding RNAs.LF370673 - JP 2014500723-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.CU677605 - Synthetic construct Homo sapiens gateway clone IMAGE:100019285 5' read CTSD mRNA.LF370675 - JP 2014500723-A/178178: Polycomb-Associated Non-Coding RNAs.LF370676 - JP 2014500723-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.MA606229 - JP 2018138019-A/178155: Polycomb-Associated Non-Coding RNAs.MA606230 - JP 2018138019-A/178156: Polycomb-Associated Non-Coding RNAs.MA606231 - JP 2018138019-A/178157: Polycomb-Associated Non-Coding RNAs.MA606232 - JP 2018138019-A/178158: Polycomb-Associated Non-Coding RNAs.MA606234 - JP 2018138019-A/178160: Polycomb-Associated Non-Coding RNAs.MA606236 - JP 2018138019-A/178162: Polycomb-Associated Non-Coding RNAs.MA606238 - JP 2018138019-A/178164: Polycomb-Associated Non-Coding RNAs.MA606240 - JP 2018138019-A/178166: Polycomb-Associated Non-Coding RNAs.MA606242 - JP 2018138019-A/178168: Polycomb-Associated Non-Coding RNAs.MA606244 - JP 2018138019-A/178170: Polycomb-Associated Non-Coding RNAs.MA606250 - JP 2018138019-A/178176: Polycomb-Associated Non-Coding RNAs.MA606251 - JP 2018138019-A/178177: Polycomb-Associated Non-Coding RNAs.MA606252 - JP 2018138019-A/178178: Polycomb-Associated Non-Coding RNAs.MA606253 - JP 2018138019-A/178179: Polycomb-Associated Non-Coding RNAs.MA443557 - JP 2018138019-A/15483: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
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: CTSD , ENST00000236671.1, ENST00000236671.2, ENST00000236671.3, ENST00000236671.4, ENST00000236671.5, ENST00000236671.6, hCG_49857 , HEL-S-130P , NM_001909, uc317ebf.1, uc317ebf.2, V9HWI3, V9HWI3_HUMANUCSC ID: ENST00000236671.7_11RefSeq Accession: NM_001909.5
GeneReviews for This Gene
GeneReviews article(s) related to gene CTSD:dystonia-ov (Hereditary Dystonia Overview)
Gene Model Information
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.