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FLASH GENE

Symbol

ADAMTS10

contributors: mct/npt/pgu - updated : 03-04-2018

HGNC name	ADAM metallopeptidase with thrombospondin type 1 motif, 10
HGNC id	13201

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	WMSAR Weill-Marchesani syndrome 2
Location	19p13.2      Physical location : 8.645.125 - 8.675.588
Synonym name	a disintegrin and metalloproteinase with thrombospondin motifs 10
	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10
	Weill-Marchesani syndrome
	zinc metalloendopeptidase
Synonym symbol(s)	AT10, ADAM-TS10, WMS
EC.number	3.4.24

DNA

TYPE	functioning gene
STRUCTURE	30.50 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030957 26 - 4237 NP_112219 120.7 1103 - 2008 18567016 NM_001282352 13 - 2475 NP_001269281 - 590 - 2008 18567016

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Endocrine thyroid       highly Lymphoid/Immune spleen       highly   thymus       highly Nervous brain       moderately Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately Visual eye lens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	lung, liver, kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one propeptide region
	one metalloproteinase domain
	one disintegrin-like domain
	five thrombospondin type 1 (TS) motif
	one cysteine-rich and one cysteine-poor domains
	a cysteine-rich PLAC (protease and lacunin) domain and ancillary domain at the carboxyl terminus

conjugated

MetalloP

HOMOLOGY

interspecies

homolog to murine At10

Homologene

FAMILY

ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm

basic FUNCTION	playing a major role in growth and in skin, lens, and heart development
	could play a role in connective tissue remodeling
	participates in microfibril biogenesis rather than in fibrillin-1 turnover
	participates likely in sperm adhesion to the zona pellucida
	is required for focal adhesions, epithelial cell-cell junction formation, and microfibril deposition
	ADAMTS10 and ADAMTS6 oppositely affect heparan sulphate-rich interfaces including focal adhesions
	novel role for the metalloprotease ADAMTS10 in the pituitary

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	ADAMTS10 binds to fibrillin-1
	ability of IKZF1 to bind the ADAMTS10 promoter, influencing its transfected activity, and inducing endogenous gene expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WMSAR

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS