Human Gene ADAM17 (uc010exb.1)
  Description: Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.
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.
Transcript (Including UTRs)
   Position: hg19 chr2:9,666,275-9,695,917 Size: 29,643 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr2:9,666,374-9,695,734 Size: 29,361 Coding Exon Count: 6 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:9,666,275-9,695,917)mRNA (may differ from genome)Protein (212 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
HGNCLynxMalacardsMGIPubMedUniProtKB
Wikipedia

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ADAM17
CDC HuGE Published Literature: ADAM17
Positive Disease Associations: Heart Rate
Related Studies:
  1. Heart Rate
    Tuomo Rankinen et al. Journal of applied physiology (Bethesda, Md. : 1985) 2012, Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs., Journal of applied physiology (Bethesda, Md. : 1985). [PubMed 22174390]

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.24 RPKM in Cells - Cultured 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 -82.40183-0.450 Picture PostScript Text
3' UTR -18.7099-0.189 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
IPR002870 - Peptidase_M12B_N

Pfam Domains:
PF01562 - Reprolysin family propeptide

ModBase Predicted Comparative 3D Structure on A8K1B4
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  GQ402545 - Homo sapiens ADAM metallopeptidase domain 18 (ADAM18) mRNA, complete cds.
LF384844 - JP 2014500723-A/192347: Polycomb-Associated Non-Coding RNAs.
U92649 - Homo sapiens snake venom-like protease (cSVP) mRNA, complete cds.
BC136783 - Homo sapiens ADAM metallopeptidase domain 17, mRNA (cDNA clone MGC:168396 IMAGE:9020773), complete cds.
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.
AY422721 - Homo sapiens N-TACE (ADAM17) mRNA, complete sequence, alternatively spliced.
BC146658 - Homo sapiens ADAM metallopeptidase domain 17, mRNA (cDNA clone IMAGE:40147999), complete cds.
LF329001 - JP 2014500723-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.
LF329003 - JP 2014500723-A/136506: Polycomb-Associated Non-Coding RNAs.
LF329004 - JP 2014500723-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.
MA620421 - JP 2018138019-A/192347: Polycomb-Associated Non-Coding RNAs.
MA564578 - JP 2018138019-A/136504: Polycomb-Associated Non-Coding RNAs.
MA564579 - JP 2018138019-A/136505: Polycomb-Associated Non-Coding RNAs.
MA564580 - JP 2018138019-A/136506: Polycomb-Associated Non-Coding RNAs.
MA564581 - JP 2018138019-A/136507: Polycomb-Associated Non-Coding RNAs.

-  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

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1B4, A8K1B4_HUMAN, AK289829
UCSC ID: uc010exb.1
RefSeq Accession: NM_003183
Protein: A8K1B4

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK289829.1
exon count: 6CDS single in 3' UTR: no RNA size: 888
ORF size: 639CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1342.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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