Human Gene ADAM18 (uc003xni.3)
  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 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:39,442,087-39,587,583)mRNA (may differ from genome)Protein (739 aa)
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-  Comments and Description Text from UniProtKB
  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.

-  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): ADAM18
CDC HuGE Published Literature: ADAM18
Positive Disease Associations: HIV-1
Related Studies:
  1. 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.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 6.76 RPKM in Testis
Total median expression: 6.80 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 -14.6055-0.265 Picture PostScript Text
3' UTR -19.34124-0.156 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
IPR006586 - ADAM_Cys-rich
IPR001762 - Blood-coag_inhib_Disintegrin
IPR018358 - Disintegrin_CS
IPR024079 - MetalloPept_cat_dom
IPR001590 - Peptidase_M12B
IPR002870 - Peptidase_M12B_N

Pfam Domains:
PF00200 - Disintegrin
PF01421 - Reprolysin (M12B) family zinc metalloprotease
PF01562 - Reprolysin family propeptide
PF08516 - ADAM cysteine-rich
PF13582 - Metallo-peptidase family M12B Reprolysin-like

SCOP Domains:
55486 - Metalloproteases ("zincins"), catalytic domain
57552 - Blood coagulation inhibitor (disintegrin)

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0008237 metallopeptidase activity

Biological Process:
GO:0006508 proteolysis
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK313961 - Homo sapiens cDNA, FLJ94607, Homo sapiens a disintegrin and metalloproteinase domain 18(ADAM18), mRNA.
AY358321 - Homo sapiens clone DNA84925 ADAM18 (UNQ858) mRNA, complete cds.
BC070279 - Homo sapiens ADAM metallopeptidase domain 18, mRNA (cDNA clone IMAGE:6102258), complete cds.
BC034624 - Homo sapiens ADAM metallopeptidase domain 18, mRNA (cDNA clone IMAGE:4827627), complete cds.
KJ892612 - Synthetic construct Homo sapiens clone ccsbBroadEn_02006 ADAM18 gene, encodes complete protein.
KJ892613 - Synthetic construct Homo sapiens clone ccsbBroadEn_02007 ADAM18 gene, encodes complete protein.
CU687082 - Synthetic construct Homo sapiens gateway clone IMAGE:100023102 5' read ADAM18 mRNA.
AJ133004 - Homo sapiens mRNA for tMDC III sperm protein.
BC121045 - Homo sapiens ADAM metallopeptidase domain 18, mRNA (cDNA clone MGC:149740 IMAGE:40117918), complete cds.
BC121046 - Homo sapiens ADAM metallopeptidase domain 18, mRNA (cDNA clone IMAGE:40117921), complete cds.
AK225744 - Homo sapiens mRNA for ADAM metallopeptidase domain 18 preproprotein variant, clone: TST08929.

-  Other Names for This Gene
  Alternate Gene Symbols: ADA18_HUMAN, B2R9Y0, NM_014237, NP_055052, Q0VAI4, Q6IRW9, Q6UXJ9, Q9Y3Q7, TMDC3, UNQ858/PRO1867
UCSC ID: uc003xni.3
RefSeq Accession: NM_014237
Protein: Q9Y3Q7 (aka ADA18_HUMAN or AD18_HUMAN)
CCDS: CCDS6113.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014237.2
exon count: 20CDS single in 3' UTR: no RNA size: 2399
ORF size: 2220CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4319.00frame 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.