ADAMTS18
A disintegrin and metalloproteinase with thrombospondin motifs 18
Also known as: ADAMTS21, ATS18_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TE60
- Gene
- ADAMTS18
- Ensembl
- ENSG00000140873
- Chromosome
- 16
- Canonical length
- 1221 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Midbody,Mitotic spindle
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
Canonical amino-acid sequenceUniProt
1221 residues, UniProt reviewed canonical sequence.
>Q8TE60|ADAMTS18
1 MECALLLACA FPAAGSGPPR GLAGLGRVAK ALQLCCLCCA SVAAALASDS SSGASGLNDD
61 YVFVTPVEVD SAGSYISHDI LHNGRKKRSA QNARSSLHYR FSAFGQELHL ELKPSAILSS
121 HFIVQVLGKD GASETQKPEV QQCFYQGFIR NDSSSSVAVS TCAGLSGLIR TRKNEFLISP
181 LPQLLAQEHN YSSPAGHHPH VLYKRTAEEK IQRYRGYPGS GRNYPGYSPS HIPHASQSRE
241 TEYHHRRLQK QHFCGRRKKY APKPPTEDTY LRFDEYGSSG RPRRSAGKSQ KGLNVETLVV
301 ADKKMVEKHG KGNVTTYILT VMNMVSGLFK DGTIGSDINV VVVSLILLEQ EPGGLLINHH
361 ADQSLNSFCQ WQSALIGKNG KRHDHAILLT GFDICSWKNE PCDTLGFAPI SGMCSKYRSC
421 TINEDTGLGL AFTIAHESGH NFGMIHDGEG NPCRKAEGNI MSPTLTGNNG VFSWSSCSRQ
481 YLKKFLSTPQ AGCLVDEPKQ AGQYKYPDKL PGQIYDADTQ CKWQFGAKAK LCSLGFVKDI
541 CKSLWCHRVG HRCETKFMPA AEGTVCGLSM WCRQGQCVKF GELGPRPIHG QWSAWSKWSE
601 CSRTCGGGVK FQERHCNNPK PQYGGLFCPG SSRIYQLCNI NPCNENSLDF RAQQCAEYNS
661 KPFRGWFYQW KPYTKVEEED RCKLYCKAEN FEFFFAMSGK VKDGTPCSPN KNDVCIDGVC
721 ELVGCDHELG SKAVSDACGV CKGDNSTCKF YKGLYLNQHK ANEYYPVVLI PAGARSIEIQ
781 ELQVSSSYLA VRSLSQKYYL TGGWSIDWPG EFPFAGTTFE YQRSFNRPER LYAPGPTNET
841 LVFEILMQGK NPGIAWKYAL PKVMNGTPPA TKRPAYTWSI VQSECSVSCG GGYINVKAIC
901 LRDQNTQVNS SFCSAKTKPV TEPKICNAFS CPAYWMPGEW STCSKACAGG QQSRKIQCVQ
961 KKPFQKEEAV LHSLCPVSTP TQVQACNSHA CPPQWSLGPW SQCSKTCGRG VRKRELLCKG
1021 SAAETLPESQ CTSLPRPELQ EGCVLGRCPK NSRLQWVASS WSECSATCGL GVRKREMKCS
1081 EKGFQGKLIT FPERRCRNIK KPNLDLEETC NRRACPAHPV YNMVAGWYSL PWQQCTVTCG
1141 GGVQTRSVHC VQQGRPSSSC LLHQKPPVLR ACNTNFCPAP EKREDPSCVD FFNWCHLVPQ
1201 HGVCNHKFYG KQCCKSCTRK ILocalizationUniProt · AlphaFold · HPA
Whether an antibody against ADAMTS18 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 19 nTPM
Expression across tissuesHPA
Tissue
- placenta: 19 nTPM
- cerebellum: 14 nTPM
- ovary: 3.5 nTPM
- breast: 3.1 nTPM
- adipose tissue: 2.9 nTPM
- spinal cord: 2.7 nTPM
Single-cell type
- müller glia: 164 nCPM
- pituitary stem cells: 134 nCPM
- tuft cells: 127 nCPM
- oligodendrocytes: 107 nCPM
- thyrotrophs: 97 nCPM
- medullary thymic epithelial cells: 86 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 22 nTPM
- white matter: 12 nTPM
- medulla oblongata: 8.2 nTPM
- pons: 6.8 nTPM
- basal ganglia: 5.6 nTPM
- hypothalamus: 5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ADAMTS18.
Disease | AllUniProt
Conditions ADAMTS18 is implicated in, by any mechanism.
- Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) MIM:615458
Disease | GeneticClinVar
60 pathogenic / likely-pathogenic of 1,285 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microcornea-myopic chorioretinal atrophy
- ADAMTS18-related disorder
- Retinal disorder
- Familial cancer of breast
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.93
- gnomAD pLI
- 0
- gnomAD missense Z
- -3.51
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- extracellular matrix organization
- eye development
- negative regulation of platelet aggregation
- proteolysis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Thrombospondin type-1 (TSP1) repeat
- Peptidase M12B, ADAM/reprolysin
- Peptidase M12B, propeptide
- ADAMTS/ADAMTS-like, Spacer 1
- PLAC
- ADAMTS/ADAMTS-like
- Metallopeptidase, catalytic domain superfamily
- Thrombospondin type-1 repeat superfamily
- ADAMTS, cysteine-rich domain 2
- ADAMTS/ADAMTS-like, cysteine-rich domain 3
- ADAMTS and ADAMTS-like
- Thrombospondin type 1 domain
- Reprolysin (M12B) family zinc metalloprotease
- Reprolysin family propeptide
- ADAM-TS Spacer 1
- PLAC (protease and lacunin) domain
- ADAMTS cysteine-rich domain 2
- Thrombospondin type 1 domain
- ADAMTS cysteine-rich domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ADAMTS18 as an antibody target. Whether an autoantibody or antibody against ADAMTS18 could matter depends on whether native ADAMTS18 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ADAMTS18 is annotated as secreted, so native ADAMTS18 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label ADAMTS18 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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