Human Gene ADAM9 (ENST00000487273.7_4) from GENCODE V47lift37
  Description: ADAM metallopeptidase domain 9, transcript variant 1 (from RefSeq NM_003816.3)
Gencode Transcript: ENST00000487273.7_4
Gencode Gene: ENSG00000168615.13_12
Transcript (Including UTRs)
   Position: hg19 chr8:38,854,492-38,962,780 Size: 108,289 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr8:38,854,583-38,961,219 Size: 106,637 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:38,854,492-38,962,780)mRNA (may differ from genome)Protein (819 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADAM9_HUMAN
DESCRIPTION: RecName: Full=Disintegrin and metalloproteinase domain-containing protein 9; Short=ADAM 9; EC=3.4.24.-; AltName: Full=Cellular disintegrin-related protein; AltName: Full=Meltrin-gamma; AltName: Full=Metalloprotease/disintegrin/cysteine-rich protein 9; AltName: Full=Myeloma cell metalloproteinase; Flags: Precursor;
FUNCTION: Probable zinc protease. May mediate cell-cell or cell- matrix interactions. Isoform 2 displays alpha-secretase activity for APP.
COFACTOR: Binds 1 zinc ion per subunit (Probable).
INTERACTION: Q9UI95:MAD2L2; NbExp=3; IntAct=EBI-77903, EBI-77889; Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-77903, EBI-77926; Q99962:SH3GL2; NbExp=2; IntAct=EBI-77903, EBI-77938;
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted.
TISSUE SPECIFICITY: Widely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart.
DISEASE: Defects in ADAM9 are the cause of cone-rod dystrophy type 9 (CORD9) [MIM:612775]. An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
SIMILARITY: Contains 1 disintegrin domain.
SIMILARITY: Contains 1 EGF-like domain.
SIMILARITY: Contains 1 peptidase M12B domain.
CAUTION: Has sometimes been referred to as ADAM-12.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ADAM9
Diseases sorted by gene-association score: cone-rod dystrophy 9* (1029), retinitis pigmentosa* (39), cone-rod dystrophy (12), alveolar soft-part sarcoma (7)
* = Manually curated disease association

-  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: 67.55 RPKM in Cells - Cultured fibroblasts
Total median expression: 641.05 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 -22.7091-0.249 Picture PostScript Text
3' UTR -295.701561-0.189 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
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
1M1V - Model


ModBase Predicted Comparative 3D Structure on Q13443
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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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0005080 protein kinase C binding
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0016787 hydrolase activity
GO:0017124 SH3 domain binding
GO:0043236 laminin binding
GO:0046872 metal ion binding

Biological Process:
GO:0000186 activation of MAPKK activity
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007229 integrin-mediated signaling pathway
GO:0010042 response to manganese ion
GO:0016477 cell migration
GO:0030216 keratinocyte differentiation
GO:0033627 cell adhesion mediated by integrin
GO:0033630 positive regulation of cell adhesion mediated by integrin
GO:0033631 cell-cell adhesion mediated by integrin
GO:0034241 positive regulation of macrophage fusion
GO:0034612 response to tumor necrosis factor
GO:0034616 response to laminar fluid shear stress
GO:0042117 monocyte activation
GO:0042542 response to hydrogen peroxide
GO:0050714 positive regulation of protein secretion
GO:0051044 positive regulation of membrane protein ectodomain proteolysis
GO:0051088 PMA-inducible membrane protein ectodomain proteolysis
GO:0051384 response to glucocorticoid
GO:0051549 positive regulation of keratinocyte migration
GO:0051592 response to calcium ion
GO:0071222 cellular response to lipopolysaccharide

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0031233 intrinsic component of external side of plasma membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  U41766 - Human metalloprotease/disintegrin/cysteine-rich protein precursor (MDC9) mRNA, complete cds.
LF384347 - JP 2014500723-A/191850: Polycomb-Associated Non-Coding RNAs.
LP895588 - Sequence 452 from Patent EP3253886.
BC126406 - Homo sapiens ADAM metallopeptidase domain 9 (meltrin gamma), mRNA (cDNA clone MGC:161684 IMAGE:8992122), complete cds.
BC143923 - Homo sapiens ADAM metallopeptidase domain 9 (meltrin gamma), mRNA (cDNA clone MGC:177458 IMAGE:9052441), complete cds.
BC143924 - Homo sapiens cDNA clone IMAGE:9052442.
AF495383 - Homo sapiens disintegrin/metalloproteinase domain 9 short protein precursor (ADAM9) mRNA, complete cds; alternatively spliced.
D14665 - Homo sapiens mRNA for KIAA0021 protein, partial cds.
AK293257 - Homo sapiens cDNA FLJ59176 complete cds, highly similar to ADAM 9 precursor (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 9).
MA619924 - JP 2018138019-A/191850: Polycomb-Associated Non-Coding RNAs.
BC027996 - Homo sapiens ADAM metallopeptidase domain 9 (meltrin gamma), mRNA (cDNA clone IMAGE:5183140), with apparent retained intron.
JD302924 - Sequence 283948 from Patent EP1572962.
JD267981 - Sequence 249005 from Patent EP1572962.
JD179961 - Sequence 160985 from Patent EP1572962.
LF371708 - JP 2014500723-A/179211: Polycomb-Associated Non-Coding RNAs.
LF371701 - JP 2014500723-A/179204: Polycomb-Associated Non-Coding RNAs.
LF371700 - JP 2014500723-A/179203: Polycomb-Associated Non-Coding RNAs.
LF371699 - JP 2014500723-A/179202: Polycomb-Associated Non-Coding RNAs.
LF371698 - JP 2014500723-A/179201: Polycomb-Associated Non-Coding RNAs.
LF371697 - JP 2014500723-A/179200: Polycomb-Associated Non-Coding RNAs.
LF371694 - JP 2014500723-A/179197: Polycomb-Associated Non-Coding RNAs.
LF371693 - JP 2014500723-A/179196: Polycomb-Associated Non-Coding RNAs.
LF371688 - JP 2014500723-A/179191: Polycomb-Associated Non-Coding RNAs.
MA607285 - JP 2018138019-A/179211: Polycomb-Associated Non-Coding RNAs.
MA607278 - JP 2018138019-A/179204: Polycomb-Associated Non-Coding RNAs.
MA607277 - JP 2018138019-A/179203: Polycomb-Associated Non-Coding RNAs.
MA607276 - JP 2018138019-A/179202: Polycomb-Associated Non-Coding RNAs.
MA607275 - JP 2018138019-A/179201: Polycomb-Associated Non-Coding RNAs.
MA607274 - JP 2018138019-A/179200: Polycomb-Associated Non-Coding RNAs.
MA607271 - JP 2018138019-A/179197: Polycomb-Associated Non-Coding RNAs.
MA607270 - JP 2018138019-A/179196: Polycomb-Associated Non-Coding RNAs.
MA607265 - JP 2018138019-A/179191: Polycomb-Associated Non-Coding RNAs.
LF371687 - JP 2014500723-A/179190: Polycomb-Associated Non-Coding RNAs.
LF371684 - JP 2014500723-A/179187: Polycomb-Associated Non-Coding RNAs.
LF371683 - JP 2014500723-A/179186: Polycomb-Associated Non-Coding RNAs.
LF371682 - JP 2014500723-A/179185: Polycomb-Associated Non-Coding RNAs.
LF371681 - JP 2014500723-A/179184: Polycomb-Associated Non-Coding RNAs.
LF371676 - JP 2014500723-A/179179: Polycomb-Associated Non-Coding RNAs.
LF371675 - JP 2014500723-A/179178: Polycomb-Associated Non-Coding RNAs.
JD433748 - Sequence 414772 from Patent EP1572962.
JD306172 - Sequence 287196 from Patent EP1572962.
JD504451 - Sequence 485475 from Patent EP1572962.
LF371674 - JP 2014500723-A/179177: Polycomb-Associated Non-Coding RNAs.
LF371673 - JP 2014500723-A/179176: Polycomb-Associated Non-Coding RNAs.
LF371672 - JP 2014500723-A/179175: Polycomb-Associated Non-Coding RNAs.
JD083961 - Sequence 64985 from Patent EP1572962.
JD531976 - Sequence 513000 from Patent EP1572962.
LF371671 - JP 2014500723-A/179174: Polycomb-Associated Non-Coding RNAs.
JD288280 - Sequence 269304 from Patent EP1572962.
MA607264 - JP 2018138019-A/179190: Polycomb-Associated Non-Coding RNAs.
MA607261 - JP 2018138019-A/179187: Polycomb-Associated Non-Coding RNAs.
MA607260 - JP 2018138019-A/179186: Polycomb-Associated Non-Coding RNAs.
MA607259 - JP 2018138019-A/179185: Polycomb-Associated Non-Coding RNAs.
MA607258 - JP 2018138019-A/179184: Polycomb-Associated Non-Coding RNAs.
MA607253 - JP 2018138019-A/179179: Polycomb-Associated Non-Coding RNAs.
MA607252 - JP 2018138019-A/179178: Polycomb-Associated Non-Coding RNAs.
MA607251 - JP 2018138019-A/179177: Polycomb-Associated Non-Coding RNAs.
MA607250 - JP 2018138019-A/179176: Polycomb-Associated Non-Coding RNAs.
MA607249 - JP 2018138019-A/179175: Polycomb-Associated Non-Coding RNAs.
MA607248 - JP 2018138019-A/179174: Polycomb-Associated Non-Coding RNAs.

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

Protein Q13443 (Reactome details) participates in the following event(s):

R-HSA-2168960 Collagen type XVII ectodomain shedding
R-HSA-1442490 Collagen degradation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: ADAM9_HUMAN, B7ZLN7, ENST00000487273.1, ENST00000487273.2, ENST00000487273.3, ENST00000487273.4, ENST00000487273.5, ENST00000487273.6, KIAA0021, MCMP, MDC9, MLTNG, NM_003816, Q10718, Q13443, Q8NFM6, uc322hlk.1, uc322hlk.2
UCSC ID: ENST00000487273.7_4
RefSeq Accession: NM_003816.3
Protein: Q13443 (aka ADAM9_HUMAN or AD09_HUMAN)

-  Gene Model Information
  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.