Human Gene ADAM8 (uc021qbe.1) Description and Page Index
  Description: Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.
RefSeq Summary (NM_001109): 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 biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009].
Transcript (Including UTRs)
   Position: hg19 chr10:135,075,920-135,090,407 Size: 14,488 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr10:135,076,660-135,090,321 Size: 13,662 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:135,075,920-135,090,407)mRNA (may differ from genome)Protein (824 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ADAM8_HUMAN
DESCRIPTION: RecName: Full=Disintegrin and metalloproteinase domain-containing protein 8; Short=ADAM 8; EC=3.4.24.-; AltName: Full=Cell surface antigen MS2; AltName: CD_antigen=CD156a; Flags: Precursor;
FUNCTION: Possible involvement in extravasation of leukocytes.
COFACTOR: Binds 1 zinc ion per subunit.
SUBUNIT: Interacts with FST3.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed on neutrophils and monocytes.
SIMILARITY: Contains 1 disintegrin domain.
SIMILARITY: Contains 1 EGF-like domain.
SIMILARITY: Contains 1 peptidase M12B domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ADAM8
CDC HuGE Published Literature: ADAM8

-  MalaCards Disease Associations
  MalaCards Gene Search: ADAM8
Diseases sorted by gene-association score: asthma (3), retinitis pigmentosa 7 and digenic (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           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: 141.88 RPKM in Whole Blood
Total median expression: 338.25 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 -34.2086-0.398 Picture PostScript Text
3' UTR -285.82740-0.386 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
IPR000742 - EG-like_dom
IPR013032 - EGF-like_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
PF13574 - Metallo-peptidase family M12B Reprolysin-like
PF13582 - Metallo-peptidase family M12B Reprolysin-like
PF13583 - Metallo-peptidase family M12B Reprolysin-like
PF13688 - Metallo-peptidase family M12

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

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

4DD8
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P78325
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0043621 protein self-association
GO:0046872 metal ion binding
GO:0050839 cell adhesion molecule binding

Biological Process:
GO:0000902 cell morphogenesis
GO:0001525 angiogenesis
GO:0002523 leukocyte migration involved in inflammatory response
GO:0002675 positive regulation of acute inflammatory response
GO:0002693 positive regulation of cellular extravasation
GO:0006508 proteolysis
GO:0006954 inflammatory response
GO:0010954 positive regulation of protein processing
GO:0022407 regulation of cell-cell adhesion
GO:0022617 extracellular matrix disassembly
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0043312 neutrophil degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0045089 positive regulation of innate immune response
GO:0045780 positive regulation of bone resorption
GO:0045785 positive regulation of cell adhesion
GO:0048247 lymphocyte chemotaxis
GO:0050714 positive regulation of protein secretion
GO:0050729 positive regulation of inflammatory response
GO:0051044 positive regulation of membrane protein ectodomain proteolysis
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051897 positive regulation of protein kinase B signaling
GO:0070245 positive regulation of thymocyte apoptotic process
GO:0071456 cellular response to hypoxia
GO:0098609 cell-cell adhesion
GO:2000309 positive regulation of tumor necrosis factor (ligand) superfamily member 11 production
GO:2000391 positive regulation of neutrophil extravasation
GO:2000406 positive regulation of T cell migration
GO:2000415 positive regulation of fibronectin-dependent thymocyte migration
GO:2000418 positive regulation of eosinophil migration

Cellular Component:
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032010 phagolysosome
GO:0032127 dense core granule membrane
GO:0035579 specific granule membrane
GO:0042581 specific granule
GO:0070820 tertiary granule
GO:0070821 tertiary granule membrane
GO:0071133 alpha9-beta1 integrin-ADAM8 complex
GO:0101003 ficolin-1-rich granule membrane
GO:0071065 alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex


-  Descriptions from all associated GenBank mRNAs
  LF207952 - JP 2014500723-A/15455: Polycomb-Associated Non-Coding RNAs.
D26579 - Homo sapiens mRNA for transmembrane protein, complete cds.
BC064500 - Homo sapiens ADAM metallopeptidase domain 8, mRNA (cDNA clone IMAGE:6247789).
JD549673 - Sequence 530697 from Patent EP1572962.
JD514376 - Sequence 495400 from Patent EP1572962.
JD111894 - Sequence 92918 from Patent EP1572962.
JD078649 - Sequence 59673 from Patent EP1572962.
JD067515 - Sequence 48539 from Patent EP1572962.
JD198248 - Sequence 179272 from Patent EP1572962.
JD415531 - Sequence 396555 from Patent EP1572962.
JD191445 - Sequence 172469 from Patent EP1572962.
JD335878 - Sequence 316902 from Patent EP1572962.
JD473709 - Sequence 454733 from Patent EP1572962.
JD473708 - Sequence 454732 from Patent EP1572962.
JD387862 - Sequence 368886 from Patent EP1572962.
JD144801 - Sequence 125825 from Patent EP1572962.
JD275872 - Sequence 256896 from Patent EP1572962.
JD189015 - Sequence 170039 from Patent EP1572962.
AK301147 - Homo sapiens cDNA FLJ50704 complete cds, highly similar to ADAM 8 precursor (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8).
BC115404 - Homo sapiens ADAM metallopeptidase domain 8, mRNA (cDNA clone MGC:134985 IMAGE:40075505), complete cds.
JD487401 - Sequence 468425 from Patent EP1572962.
JD440511 - Sequence 421535 from Patent EP1572962.
JD186219 - Sequence 167243 from Patent EP1572962.
JD103597 - Sequence 84621 from Patent EP1572962.
AK312834 - Homo sapiens cDNA, FLJ93272, highly similar to Homo sapiens a disintegrin and metalloproteinase domain 8 (ADAM8),mRNA.
LF370469 - JP 2014500723-A/177972: Polycomb-Associated Non-Coding RNAs.
LF370470 - JP 2014500723-A/177973: Polycomb-Associated Non-Coding RNAs.
LF370471 - JP 2014500723-A/177974: Polycomb-Associated Non-Coding RNAs.
LF370472 - JP 2014500723-A/177975: Polycomb-Associated Non-Coding RNAs.
LF370473 - JP 2014500723-A/177976: Polycomb-Associated Non-Coding RNAs.
LF370474 - JP 2014500723-A/177977: Polycomb-Associated Non-Coding RNAs.
AX810718 - Sequence 42 from Patent EP1333092.
AK304324 - Homo sapiens cDNA FLJ52194 complete cds, highly similar to ADAM 8 precursor (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8).
AX810699 - Sequence 23 from Patent EP1333092.
AK310662 - Homo sapiens cDNA, FLJ17704.
MA403320 - JP 2018130113-A/1: Method, kit for testing chronic myelogenous leukemia (CML), method for isolating CML cells which is resistant to tyrosine kinase inhibitor (TKI), and TKI-resistance reducing agent and screening method thereof.
MA403369 - JP 2018130113-A/50: Method, kit for testing chronic myelogenous leukemia (CML), method for isolating CML cells which is resistant to tyrosine kinase inhibitor (TKI), and TKI-resistance reducing agent and screening method thereof.
MA403368 - JP 2018130113-A/49: Method, kit for testing chronic myelogenous leukemia (CML), method for isolating CML cells which is resistant to tyrosine kinase inhibitor (TKI), and TKI-resistance reducing agent and screening method thereof.
MA606046 - JP 2018138019-A/177972: Polycomb-Associated Non-Coding RNAs.
MA606047 - JP 2018138019-A/177973: Polycomb-Associated Non-Coding RNAs.
MA606048 - JP 2018138019-A/177974: Polycomb-Associated Non-Coding RNAs.
MA606049 - JP 2018138019-A/177975: Polycomb-Associated Non-Coding RNAs.
MA606050 - JP 2018138019-A/177976: Polycomb-Associated Non-Coding RNAs.
MA606051 - JP 2018138019-A/177977: Polycomb-Associated Non-Coding RNAs.
MA443529 - JP 2018138019-A/15455: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P78325 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-6800426 Exocytosis of ficolin-rich granule membrane proteins
R-HSA-3788061 Fibronectin degradation by ADAM8
R-HSA-6798695 Neutrophil degranulation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-168249 Innate Immune System
R-HSA-1474244 Extracellular matrix organization
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ADAM8_HUMAN, H0YLR0, MS2, NM_001109, NP_001100, P78325
UCSC ID: uc021qbe.1
RefSeq Accession: NM_001109
Protein: P78325 (aka ADAM8_HUMAN or AD08_HUMAN)
CCDS: CCDS31319.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001109.4
exon count: 23CDS single in 3' UTR: no RNA size: 3316
ORF size: 2475CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5147.00frame shift in genome: no % Coverage: 99.55
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.