Gene: OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)
Homo sapiens
Symbol:
OBSCN
Name:
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Description:
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]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
ARHGEF30; DKFZp666E245; FLJ14124; KIAA1556; KIAA1639; MGC120409; MGC120410; MGC120411; MGC120412; MGC138590; obscurin; obscurin, myosin light chain kinase; obscurin-MLCK; obscurin-myosin light chain kinase; obscurin-RhoGEF; OTTHUMP00000037764; UNC89
Orthologs:
Rattus norvegicus : Obscn
(obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 235,190,174 - 235,361,078 + NCBI Human Genome Assembly HuRef 1 198,910,669 - 199,081,449 + NCBI Human Genome Assembly GRCh37 1 228,395,831 - 228,566,575 + NCBI Human Genome Assembly Build 36 1 226,462,484 - 226,633,198 + NCBI Human Cytogenetic Map 1 q42.13 NCBI Human Genome Assembly 1 224,702,595 - 224,855,685 NCBI
Model
Gene Ontology Annotations
Biological Process apoptotic process TAS 2290271 Reactome:REACT_13638 Reactome Reactome:REACT_13638 apoptotic signaling pathway TAS 2290271 Reactome:REACT_13720 Reactome Reactome:REACT_13720 multicellular organismal development IEA UniProtKB-KW:KW-0217 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 neurotrophin TRK receptor signaling pathway TAS 2290271 Reactome:REACT_11061 Reactome Reactome:REACT_11061 neurotrophin TRK receptor signaling pathway TAS 2290271 Reactome:REACT_13776 Reactome Reactome:REACT_13776 protein localization to M-band ISS UniProtKB:Q80ZF5 2290271 PMID:18782775 BHF-UCL PMID:18782775 regulation of Rho protein signal transduction IEA InterPro:IPR000219 2290271 GO_REF:0000002 InterPro GO_REF:0000002 regulation of small GTPase mediated signal transduction TAS 2290271 Reactome:REACT_11051 Reactome Reactome:REACT_11051 sarcomere organization TAS 2290271 PMID:18782775 BHF-UCL PMID:18782775 small GTPase mediated signal transduction TAS 2290271 Reactome:REACT_11044 Reactome Reactome:REACT_11044
1298441 RA2_H Rheumatoid arthritis QTL 2 (human) .0048 Joint/bone inflammation rheumatoid arthritis 1 222893908 248893908 Human 1357296 AASTH9_H Allergic/atopic asthma related QTL 9 (human) 1.17 Reversible airflow obstruction ETS negative 1 162948826 244300505 Human 1559121 SCL38_H Serum cholesterol level QTL 38 (human) 3.7 .01 Lipid level LDL-apoB 1 205458439 235379002 Human 1559102 SAPOB1_H Serum apolipoprotein B level QTL 1 (human) 2.9 .06 Apolipoprotein level apolipoprotein B 1 205458439 235379002 Human 2293374 PRSTS278_H Prostate tumor susceptibility QTL 278 (human) Prostate tumor susceptibility 1 228288748 249231268 Human 2299935 PRSTS334_H Prostate tumor susceptibility QTL 334 (human) 3.3 .001 Prostate tumor susceptibility 1 227876858 249231268 Human 2299934 PRSTS333_H Prostate tumor susceptibility QTL 333 (human) .001 Prostate tumor susceptibility 1 227876858 249231268 Human 2300001 PRSTS346_H Prostate tumor susceptibility QTL 346 (human) .0026 Prostate tumor susceptibility 1 227876858 249231268 Human 2299881 PRSTS316_H Prostate tumor susceptibility QTL 316 (human) .1 Prostate tumor susceptibility 1 227876858 249231268 Human 2299878 PRSTS315_H Prostate tumor susceptibility QTL 315 (human) .08 Prostate tumor susceptibility 1 227876858 249231268 Human 2302772 MAMTS8_H Mammary tumor susceptibility QTL 8 (human) .038 Mammary tumor susceptibility 1 221659724 247659724 Human 2302762 MAMTS7_H Mammary tumor susceptibility QTL 7 (human) .014 Mammary tumor susceptibility 1 218950646 244950646 Human 2316331 GLUCO231_H Glucose level QTL 231 (human) 2.38 Glucose level 1 218950646 244950646 Human 2316699 GLUCO266_H Glucose level QTL 266 (human) 1.64 .00533 Glucose level 1 227876858 249231268 Human
Gene Ontology Annotations
