Human Gene ADAMTSL4 (uc001eux.3) Description and Page Index
Description: Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA. RefSeq Summary (NM_019032): This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]. Transcript (Including UTRs) Position: hg19 chr1:150,521,898-150,533,412 Size: 11,515 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr1:150,524,765-150,532,672 Size: 7,908 Coding Exon Count: 17
ID:ATL4_HUMAN DESCRIPTION: RecName: Full=ADAMTS-like protein 4; Short=ADAMTSL-4; AltName: Full=Thrombospondin repeat-containing protein 1; Flags: Precursor; FUNCTION: Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis. SUBUNIT: Interacts with CTSB. Interacts with FBN1. INTERACTION: O75716:STK16; NbExp=3; IntAct=EBI-742002, EBI-749295; SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Note=Colocalizes with FMN1 microfibrils in the eye ECM. TISSUE SPECIFICITY: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin. PTM: N-glycosylated. DISEASE: Defects in ADAMTSL4 are a cause of ectopia lentis, isolated, autosomal recessive (ECTOL2) [MIM:225100]. A rare condition characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation. SIMILARITY: Contains 1 PLAC domain. SIMILARITY: Contains 6 TSP type-1 domains. CAUTION: Although similar to members of the ADAMTS family, it lacks the metalloprotease and disintegrin-like domains which are typical of that family. SEQUENCE CAUTION: Sequence=AAG17217.1; Type=Frameshift; Positions=719;
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.
ModBase Predicted Comparative 3D Structure on Q6UY14
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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.