Human Gene ADAM17 (ENST00000310823.8) Description and Page Index
  Description: Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA. (from RefSeq NM_003183)
RefSeq Summary (NM_003183): This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands. The encoded protein also plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. [provided by RefSeq, Feb 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: GQ402545.1, SRR3476690.934797.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000310823.8/ ENSP00000309968.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000310823.8
Gencode Gene: ENSG00000151694.14
Transcript (Including UTRs)
   Position: hg38 chr2:9,488,486-9,555,830 Size: 67,345 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chr2:9,490,177-9,555,605 Size: 65,429 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:9,488,486-9,555,830)mRNA (may differ from genome)Protein (824 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Disintegrin and metalloproteinase domain-containing protein 17; Short=ADAM 17; EC=; AltName: Full=Snake venom-like protease; AltName: Full=TNF-alpha convertase; AltName: Full=TNF-alpha-converting enzyme; AltName: CD_antigen=CD156b; Flags: Precursor;
FUNCTION: Cleaves the membrane-bound precursor of TNF-alpha to its mature soluble form. Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface. Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein. Also involved in the activation of Notch pathway (By similarity).
CATALYTIC ACTIVITY: Narrow endopeptidase specificity. Cleaves Pro- Leu-Ala-Gln-Ala-|-Val-Arg-Ser-Ser-Ser in the membrane-bound, 26- kDa form of tumor necrosis factor alpha (TNF-alpha). Similarly cleaves other membrane-anchored, cell-surface proteins to 'shed' the extracellular domains.
COFACTOR: Binds 1 zinc ion per subunit.
SUBUNIT: Interacts with MAD2L1, MAPK14 and MUC1.
INTERACTION: Q13257:MAD2L1; NbExp=3; IntAct=EBI-78188, EBI-78203;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at highest levels in adult heart, placenta, skeletal muscle, pancreas, spleen, thymus, prostate, testes, ovary and small intestine, and in fetal brain, lung, liver and kidney.
INDUCTION: In arthritis-affected cartilage.
DOMAIN: Must be membrane anchored to cleave the different substrates. The cytoplasmic domain is not required for the this activity. Only the catalytic domain is essential to shed TNF and p75 TNFR (By similarity).
DOMAIN: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
PTM: The precursor is cleaved by a furin endopeptidase (By similarity).
PTM: Phosphorylated. Stimulation by growth factor or phorbol 12- myristate 13-acetate induces phosphorylation of Ser-819 but decreases phosphorylation of Ser-791. Phosphorylation at THR-735 by MAPK14 is required for ADAM17-mediated ectodomain shedding.
DISEASE: Defects in ADAM17 are a cause of neonatal inflammatory skin and bowel disease (NISBD) [MIM:614328]. NISBD is a disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized.
SIMILARITY: Contains 1 disintegrin domain.
SIMILARITY: Contains 1 peptidase M12B domain.
WEB RESOURCE: Name=Wikipedia; Note=Tumor necrosis factor alpha- converting enzyme entry; URL="";

-  MalaCards Disease Associations
  MalaCards Gene Search: ADAM17
Diseases sorted by gene-association score: inflammatory skin and bowel disease, neonatal, 1* (969), neonatal inflammatory skin and bowel disease* (247), pulmonary embolism and infarction (15), gastrointestinal system cancer (9), hepatic vascular disease (8), small intestine leiomyosarcoma (8), small intestinal sarcoma (8), arthritis (8), intrahepatic cholangiocarcinoma (7), malignant anus melanoma (6), hepatic infarction (6), borna disease (6), vein disease (5), splenic disease (5), liver sarcoma (5), crohn's disease (5), ovarian cystic teratoma (5), mitral valve disease (4), acute pulmonary heart disease (4), rheumatoid arthritis (4), hepatocellular carcinoma (4), alzheimer disease (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D014212 Tretinoin
  • C006780 bisphenol A
  • C499807 (2R, 3S)-2-(((4-(2-butynyloxy)phenyl)sulfonyl)amino)-N,3-dihydroxybutanamide
  • D015655 1-Methyl-4-phenylpyridinium
  • C023514 2,6-dinitrotoluene
  • C009505 4,4'-diaminodiphenylmethane
  • C484302 4-((4-(2-butynyloxy)phenyl)sulfonyl)-N-hydroxy-2,2-dimethyl-(3S)thiomorpholinecarboxamide
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000171 Acrolein
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.24 RPKM in Cells - Transformed fibroblasts
Total median expression: 183.27 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 -102.50225-0.456 Picture PostScript Text
3' UTR -408.501691-0.242 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001762 - Blood-coag_inhib_Disintegrin
IPR024079 - MetalloPept_cat_dom
IPR001590 - Peptidase_M12B
IPR002870 - Peptidase_M12B_N

Pfam Domains:
PF00200 - Disintegrin
PF01562 - Reprolysin family propeptide

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

- X-ray MuPIT

- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2DDF - X-ray MuPIT 2FV5 - X-ray MuPIT 2FV9 - X-ray MuPIT
2I47 - X-ray 2OI0 - X-ray MuPIT 3B92 - X-ray MuPIT
3CKI - X-ray MuPIT 3E8R - X-ray MuPIT 3EDZ - X-ray MuPIT
3EWJ - X-ray MuPIT 3G42 - X-ray MuPIT 3KMC - X-ray MuPIT
3KME - X-ray MuPIT 3L0T - X-ray MuPIT 3L0V - X-ray MuPIT
3LE9 - X-ray MuPIT 3LEA - X-ray MuPIT 3LGP - X-ray MuPIT
3O64 - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P78536
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 BrowserNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0005112 Notch binding
GO:0005138 interleukin-6 receptor binding
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0016787 hydrolase activity
GO:0017124 SH3 domain binding
GO:0030165 PDZ domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0001666 response to hypoxia
GO:0001934 positive regulation of protein phosphorylation
GO:0002446 neutrophil mediated immunity
GO:0002467 germinal center formation
GO:0002690 positive regulation of leukocyte chemotaxis
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0007155 cell adhesion
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0008284 positive regulation of cell proliferation
GO:0010820 positive regulation of T cell chemotaxis
GO:0030183 B cell differentiation
GO:0030307 positive regulation of cell growth
GO:0030335 positive regulation of cell migration
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0031293 membrane protein intracellular domain proteolysis
GO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
GO:0032496 response to lipopolysaccharide
GO:0032722 positive regulation of chemokine production
GO:0033025 regulation of mast cell apoptotic process
GO:0033077 T cell differentiation in thymus
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0033627 cell adhesion mediated by integrin
GO:0035313 wound healing, spreading of epidermal cells
GO:0035625 epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway
GO:0042493 response to drug
GO:0043536 positive regulation of blood vessel endothelial cell migration
GO:0045741 positive regulation of epidermal growth factor-activated receptor activity
GO:0048536 spleen development
GO:0048870 cell motility
GO:0050830 defense response to Gram-positive bacterium
GO:0051088 PMA-inducible membrane protein ectodomain proteolysis
GO:0051272 positive regulation of cellular component movement
GO:0071403 cellular response to high density lipoprotein particle stimulus
GO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway
GO:1905564 positive regulation of vascular endothelial cell proliferation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0045121 membrane raft
GO:0005911 cell-cell junction
GO:0005925 focal adhesion
GO:0032587 ruffle membrane

-  Descriptions from all associated GenBank mRNAs
  LF328985 - JP 2014500723-A/136488: Polycomb-Associated Non-Coding RNAs.
MA564562 - JP 2018138019-A/136488: Polycomb-Associated Non-Coding RNAs.
LF328986 - JP 2014500723-A/136489: Polycomb-Associated Non-Coding RNAs.
MA564563 - JP 2018138019-A/136489: Polycomb-Associated Non-Coding RNAs.
GQ402545 - Homo sapiens ADAM metallopeptidase domain 18 (ADAM18) mRNA, complete cds.
LF384844 - JP 2014500723-A/192347: Polycomb-Associated Non-Coding RNAs.
MA620421 - JP 2018138019-A/192347: Polycomb-Associated Non-Coding RNAs.
U92649 - Homo sapiens snake venom-like protease (cSVP) mRNA, complete cds.
JD341793 - Sequence 322817 from Patent EP1572962.
JD175222 - Sequence 156246 from Patent EP1572962.
JD238084 - Sequence 219108 from Patent EP1572962.
JD491216 - Sequence 472240 from Patent EP1572962.
BC136783 - Homo sapiens ADAM metallopeptidase domain 17, mRNA (cDNA clone MGC:168396 IMAGE:9020773), complete cds.
JD249817 - Sequence 230841 from Patent EP1572962.
JD148287 - Sequence 129311 from Patent EP1572962.
JD563570 - Sequence 544594 from Patent EP1572962.
JD550827 - Sequence 531851 from Patent EP1572962.
JD023275 - Sequence 4299 from Patent EP1572962.
JD240220 - Sequence 221244 from Patent EP1572962.
JD030464 - Sequence 11488 from Patent EP1572962.
DQ588145 - Homo sapiens piRNA piR-55257, complete sequence.
JD509855 - Sequence 490879 from Patent EP1572962.
JD285802 - Sequence 266826 from Patent EP1572962.
LF328987 - JP 2014500723-A/136490: Polycomb-Associated Non-Coding RNAs.
MA564564 - JP 2018138019-A/136490: Polycomb-Associated Non-Coding RNAs.
U69611 - Human TNF-alpha converting enzyme mRNA, complete cds.
U69612 - Human TNF-alpha converting enzyme precursor, mRNA, alternatively spliced, complete cds.
U86755 - Human TNF-alpha converting enzyme mRNA, complete cds.
JD236349 - Sequence 217373 from Patent EP1572962.
JD262464 - Sequence 243488 from Patent EP1572962.
JD172799 - Sequence 153823 from Patent EP1572962.
JD514579 - Sequence 495603 from Patent EP1572962.
JD352130 - Sequence 333154 from Patent EP1572962.
AY422721 - Homo sapiens N-TACE (ADAM17) mRNA, complete sequence, alternatively spliced.
LF328988 - JP 2014500723-A/136491: Polycomb-Associated Non-Coding RNAs.
MA564565 - JP 2018138019-A/136491: Polycomb-Associated Non-Coding RNAs.
JD111628 - Sequence 92652 from Patent EP1572962.
JD352385 - Sequence 333409 from Patent EP1572962.
LF328989 - JP 2014500723-A/136492: Polycomb-Associated Non-Coding RNAs.
MA564566 - JP 2018138019-A/136492: Polycomb-Associated Non-Coding RNAs.
JD063321 - Sequence 44345 from Patent EP1572962.
JD187545 - Sequence 168569 from Patent EP1572962.
JD406398 - Sequence 387422 from Patent EP1572962.
JD123545 - Sequence 104569 from Patent EP1572962.
LF328990 - JP 2014500723-A/136493: Polycomb-Associated Non-Coding RNAs.
MA564567 - JP 2018138019-A/136493: Polycomb-Associated Non-Coding RNAs.
JD382341 - Sequence 363365 from Patent EP1572962.
JD403801 - Sequence 384825 from Patent EP1572962.
LF328992 - JP 2014500723-A/136495: Polycomb-Associated Non-Coding RNAs.
MA564569 - JP 2018138019-A/136495: Polycomb-Associated Non-Coding RNAs.
LF328994 - JP 2014500723-A/136497: Polycomb-Associated Non-Coding RNAs.
MA564571 - JP 2018138019-A/136497: Polycomb-Associated Non-Coding RNAs.
LF328995 - JP 2014500723-A/136498: Polycomb-Associated Non-Coding RNAs.
MA564572 - JP 2018138019-A/136498: Polycomb-Associated Non-Coding RNAs.
LF328996 - JP 2014500723-A/136499: Polycomb-Associated Non-Coding RNAs.
MA564573 - JP 2018138019-A/136499: Polycomb-Associated Non-Coding RNAs.
LF328998 - JP 2014500723-A/136501: Polycomb-Associated Non-Coding RNAs.
MA564575 - JP 2018138019-A/136501: Polycomb-Associated Non-Coding RNAs.
LF328999 - JP 2014500723-A/136502: Polycomb-Associated Non-Coding RNAs.
MA564576 - JP 2018138019-A/136502: Polycomb-Associated Non-Coding RNAs.
BC146658 - Homo sapiens ADAM metallopeptidase domain 17, mRNA (cDNA clone IMAGE:40147999), complete cds.
LF329000 - JP 2014500723-A/136503: Polycomb-Associated Non-Coding RNAs.
MA564577 - JP 2018138019-A/136503: Polycomb-Associated Non-Coding RNAs.
LF329001 - JP 2014500723-A/136504: Polycomb-Associated Non-Coding RNAs.
MA564578 - JP 2018138019-A/136504: Polycomb-Associated Non-Coding RNAs.
AK289829 - Homo sapiens cDNA FLJ77013 complete cds, highly similar to Homo sapiens ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme), mRNA.
BC062687 - Homo sapiens ADAM metallopeptidase domain 17, mRNA (cDNA clone IMAGE:6104599), complete cds.
KJ901775 - Synthetic construct Homo sapiens clone ccsbBroadEn_11169 ADAM17 gene, encodes complete protein.
LF329002 - JP 2014500723-A/136505: Polycomb-Associated Non-Coding RNAs.
MA564579 - JP 2018138019-A/136505: Polycomb-Associated Non-Coding RNAs.
LF329003 - JP 2014500723-A/136506: Polycomb-Associated Non-Coding RNAs.
MA564580 - JP 2018138019-A/136506: Polycomb-Associated Non-Coding RNAs.
LF329004 - JP 2014500723-A/136507: Polycomb-Associated Non-Coding RNAs.
MA564581 - JP 2018138019-A/136507: Polycomb-Associated Non-Coding RNAs.
JD479739 - Sequence 460763 from Patent EP1572962.
JD404549 - Sequence 385573 from Patent EP1572962.
JD345794 - Sequence 326818 from Patent EP1572962.
JD374936 - Sequence 355960 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04330 - Notch signaling pathway
hsa05010 - Alzheimer's disease
hsa05120 - Epithelial cell signaling in Helicobacter pylori infection

BioCarta from NCI Cancer Genome Anatomy Project
h_notchpathway - Proteolysis and Signaling Pathway of Notch
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_erbB4pathway - g-Secretase mediated ErbB4 Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P78536 (Reactome details) participates in the following event(s):

R-HSA-1168777 Metalloprotease cleavage of GHR
R-NUL-5362792 Shh is released from the plasma membrane by ADAM17-mediated cleavage
R-HSA-5362793 Hh-Np is cleaved by ADAM17 to promote ligand shedding
R-HSA-193679 alpha-secretase cleaves the p75NTR extracellular domain
R-HSA-1251992 Cleavage of P-ERBB4jmA isoforms by ADAM17
R-NUL-2063915 ADAM17 cleaves Notch1 at S2
R-HSA-3371385 TNF-alpha is cleaved by ADAM17 (TACE)
R-HSA-2168960 Collagen type XVII ectodomain shedding
R-HSA-177946 Pro-EGF is cleaved to form mature EGF
R-HSA-157632 Complex of NOTCH1 with its ligand is cleaved to produce NEXT1
R-HSA-2220944 ADAM10/17 cleaves ligand-bound NOTCH1 PEST domain mutants to produce NEXT1 PEST domain mutants
R-HSA-2220976 NOTCH1 HD+PEST domain mutants are cleaved by ADAM10/17 irrespective of ligand binding
R-HSA-2666278 NOTCH1 t(7;9)(NOTCH1:M1580_K2555) is cleaved to produce NEXT1
R-HSA-2730752 NOTCH1 HD domain mutants are cleaved to produce NEXT1 irrespective of ligand binding
R-HSA-982772 Growth hormone receptor signaling
R-HSA-5362798 Release of Hh-Np from the secreting cell
R-HSA-193692 Regulated proteolysis of p75NTR
R-HSA-1251985 Nuclear signaling by ERBB4
R-HSA-75893 TNF signaling
R-HSA-1442490 Collagen degradation
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-1236394 Signaling by ERBB4
R-HSA-73887 Death Receptor Signalling
R-HSA-177929 Signaling by EGFR
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-156988 Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-2660826 Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
R-HSA-2691232 Constitutive Signaling by NOTCH1 HD Domain Mutants
R-HSA-168256 Immune System
R-HSA-5358351 Signaling by Hedgehog
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction
R-HSA-1474244 Extracellular matrix organization
R-HSA-1980143 Signaling by NOTCH1
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-2660825 Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
R-HSA-2691230 Signaling by NOTCH1 HD Domain Mutants in Cancer
R-HSA-157118 Signaling by NOTCH
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ADA17_HUMAN, CSVP, NM_003183, O60226, P78536, TACE, uc002qzu.1, uc002qzu.2, uc002qzu.3, uc002qzu.4, uc002qzu.5, uc002qzu.6
UCSC ID: uc002qzu.6
RefSeq Accession: NM_003183
Protein: P78536 (aka ADA17_HUMAN or AD17_HUMAN)
CCDS: CCDS1665.1

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