Human Gene OBSCN (ENST00000422127.5) from GENCODE V38
Description: Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. (from RefSeq NM_001098623) RefSeq Summary (NM_001098623): The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000422127.5 Gencode Gene: ENSG00000154358.23 Transcript (Including UTRs) Position: hg38 chr1:228,208,130-228,378,874 Size: 170,745 Total Exon Count: 105 Strand: + Coding Region Position: hg38 chr1:228,211,784-228,378,795 Size: 167,012 Coding Exon Count: 104
ID:OBSCN_HUMAN DESCRIPTION: RecName: Full=Obscurin; EC=22.214.171.124; AltName: Full=Obscurin-RhoGEF; AltName: Full=Obscurin-myosin light chain kinase; Short=Obscurin-MLCK; FUNCTION: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. COFACTOR: Magnesium (By similarity). SUBUNIT: Isoform 3 interacts with TTN/titin, ANK1 isoform Mu17/ank1.5, and with calmodulin in a Ca(2+)-independent manner. Associates with fast skeletal muscle myosin (By similarity). INTERACTION: P16157:ANK1; NbExp=3; IntAct=EBI-941921, EBI-941686; P16157-17:ANK1; NbExp=8; IntAct=EBI-941921, EBI-941819; Q8WZ42:TTN; NbExp=4; IntAct=EBI-941850, EBI-681210; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z- disk. Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells. SIMILARITY: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 3 fibronectin type-III domains. SIMILARITY: Contains 55 Ig-like (immunoglobulin-like) domains. SIMILARITY: Contains 1 IQ domain. SIMILARITY: Contains 2 PH domains. SIMILARITY: Contains 2 protein kinase domains. SIMILARITY: Contains 1 SH3 domain. CAUTION: Initially the name obscurin was used to describe isoform 3 which lacks the kinase domains. SEQUENCE CAUTION: Sequence=CAC85746.1; Type=Erroneous gene model prediction; Sequence=CAC85749.1; Type=Erroneous gene model prediction; Sequence=CAC85750.1; Type=Erroneous gene model prediction; Sequence=CAH71670.2; Type=Erroneous gene model prediction; Sequence=CAI19283.1; Type=Erroneous gene model prediction; Sequence=CAI19284.1; Type=Erroneous gene model prediction;
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 Q5VST9
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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.