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 chr2:9,667,631-9,695,917 Size: 28,287 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr2:9,667,904-9,695,734 Size: 27,831 Coding Exon Count: 5
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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:
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]
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.
Pfam Domains: PF01562 - Reprolysin family propeptide
ModBase Predicted Comparative 3D Structure on Q6P5T8
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No 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. 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. 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