Description: Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. RefSeq Summary (NM_014237): 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 sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]. Transcript (Including UTRs) Position: hg19 chr8:39,442,087-39,587,583 Size: 145,497 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr8:39,442,142-39,587,459 Size: 145,318 Coding Exon Count: 20
ID:ADA18_HUMAN DESCRIPTION: RecName: Full=Disintegrin and metalloproteinase domain-containing protein 18; Short=ADAM 18; AltName: Full=Transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III; Short=tMDC III; Flags: Precursor; FUNCTION: Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed specifically in testis. DOMAIN: A tripeptide motif (ECD) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding (By similarity). PTM: The prodomain and the metalloprotease-like domain are cleaved during the epididymal maturation of the spermatozoa (By similarity). SIMILARITY: Contains 1 disintegrin domain. SIMILARITY: Contains 1 EGF-like domain. SIMILARITY: Contains 1 peptidase M12B domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ADAM18 CDC HuGE Published Literature: ADAM18 Positive Disease Associations: HIV-1 Related Studies:
HIV-1 Jairam R Lingappa et al. PloS one 2012, Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure., PloS one.
[PubMed 22174851]
This GWAS controlling for HIV-1 exposure did not identify common host genotypes influencing HIV-1 acquisition. Alternative strategies, such as large-scale sequencing to identify low frequency variation, should be considered for identifying novel host genetic predictors of HIV-1 acquisition.
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.
ModBase Predicted Comparative 3D Structure on Q9Y3Q7
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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.