HuLPr04652

Uniprot ID

ATL2_HUMAN

Uniprot Acc

Q86TH1;B1B0D5;O60345;

Protein name

ADAMTS-like protein 2

Comment

SUBUNIT:Interacts with LTBP1.||SUBCELLULAR LOCATION:Secreted (Potential).||DISEASE:Defects in ADAMTSL2 are the cause of geleophysic dysplasia (GLPD) [MIM:231050]. Geleophysic dysplasia is an autosomal recessive disorder characterized by short stature, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death.||MISCELLANEOUS:There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.||SIMILARITY:Contains 1 PLAC domain.||SIMILARITY:Contains 7 TSP type-1 domains.||CAUTION:Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.||SEQUENCE CAUTION:Sequence=BAA25531.2; Type=Erroneous initiation;||WEB RESOURCE:Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ADAMTSL2";

Subcellular localization

Secreted(Potential).

Gene name

ADAMTS-like 2

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLE GGTDATAFWWGEWTKWTACSRSCGGGVTSQERHCLQQRR KSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCV SFNSHVYNGRTHQWKPLYPDDYVHISSKPCDLHCTTVDG QRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFS THTLDKCGICQGDGSSCTHVTGNYRKGNAHLGYSLVTHI PAGARDIQIVERKKSADVLALADEAGYYFFNGNYKVDSP KNFNIAGTVVKYRRPMDVYETGIEYIVAQGPTNQGLNVM VWNQNGKSPSITFEYTLLQPPHESRPQPIYYGFSESAES QGLDGAGLMGFVPHNGSLYGQASSERLGLDNRLFGHPGL DMELGPSQGQETNEVCEQAGGGACEGPPRGKGFRDRNVT GTPLTGDKDDEEVDTHFASQEFFSANAISDQLLGAGSDL KDFTLNETVNSIFAQGAPRSSLAESFFVDYEENEGAGPY LLNGSYLELSSDRVANSSSEAPFPNVSTSLLTSAGNRTH KARTRPKARKQGVSPADMYRWKLSSHEPCSATCTTGVMS AYAMCVRYDGVEVDDSYCDALTRPEPVHEFCAGRECQPR WETSSWSECSRTCGEGYQFRVVRCWKMLSPGFDSSVYSD LCEAAEAVRPEERKTCRNPACGPQWEMSEWSECTAKCGE RSVVTRDIRCSEDEKLCDPNTRPVGEKNCTGPPCDRQWT VSDWGPCSGSCGQGRTIRHVYCKTSDGRVVPESQCQMET KPLAIHPCGDKNCPAHWLAQDWERCNTTCGRGVKKRLVL CMELANGKPQTRSGPECGLAKKPPEESTCFERPCFKWYT SPWSECTKTCGVGVRMRDVKCYQGTDIVRGCDPLVKPVG RQACDLQPCPTEPPDDSCQDQPGTNCALAIKVNLCGHWYYSKACCRSCRPPHS

Database cross reference

RefSeq Protein accession:NP_001138792
RefSeq Protein gi:223718260

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;

GO:0005578;C:proteinaceous extracellular matrix;IEA:InterPro.

GO-F

GO:0004222;F:metalloendopeptidase activity;IEA:InterPro. GO:0005515;F:protein binding;IPI:BHF-UCL. GO:0008270;F:zinc ion binding;IEA:InterPro.

GO-P

GO:0030512;P:negative regulation of transforming growth factor beta receptor signaling pathway;IMP:BHF-UCL.