OBSL1

OBSL1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2CPC, 2E6P, 2E6Q, 2LU7, 2LVC, 2WP3, 2WWK, 2WWM, 3KNB
Identifiers
Aliases	OBSL1 , obscurin like 1, obscurin like cytoskeletal adaptor 1
External IDs	OMIM: 610991 HomoloGene: 28013 GeneCards: OBSL1
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q35 Start 219,550,728 bp [1] End 219,571,859 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of thyroid gland left lobe of thyroid gland right uterine tube anterior pituitary left uterine tube canal of the cervix body of pancreas gastric mucosa left ventricle tibial nerve n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytoskeletal anchor activity protein binding structural constituent of muscle actin filament binding muscle alpha-actinin binding structural molecule activity conferring elasticity Cellular component Z disc 3M complex intercalated disc M band centrosome microtubule organizing center cytoskeleton cytoplasm Golgi apparatus perinuclear region of cytoplasm muscle myosin complex cytosol striated muscle thin filament sarcomere Biological process protein localization to Golgi apparatus cardiac myofibril assembly microtubule cytoskeleton organization cytoskeleton organization regulation of mitotic nuclear division positive regulation of dendrite morphogenesis Golgi organization striated muscle contraction actin filament organization sarcomere organization striated muscle myosin thick filament assembly post-translational protein modification muscle contraction skeletal muscle thin filament assembly skeletal muscle myosin thick filament assembly cardiac muscle tissue morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23363 n/a Ensembl ENSG00000124006 n/a UniProt O75147 n/a RefSeq (mRNA) NM_001173408 NM_001173431 NM_015311 n/a RefSeq (protein) NP_001166879 NP_001166902 NP_056126 n/a Location (UCSC) Chr 2: 219.55 – 219.57 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Obscurin-like protein 1 is a protein that in humans is encoded by the OBSL1 gene. ^{[3] [4]}

References

1. GRCh38: Ensembl release 89: ENSG00000124006 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Dec 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi: 10.1093/dnares/5.3.169 . PMID   9734811.
4. "Entrez Gene: OBSL1 obscurin-like 1".

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi: 10.1093/dnares/9.3.99 . PMID   12168954.
• Geisler SB, Robinson D, Hauringa M, et al. (2007). "Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin". Genomics. 89 (4): 521–31. doi:10.1016/j.ygeno.2006.12.004. PMC   1885211 . PMID   17289344.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC   139146 . PMID   9110174.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID   8619474.

External links

• GeneReviews/NIH/NCBI/UW entry on 3-M syndrome
• OMIM entries on 3-M syndrome
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Obscurin-like protein 1 (OBSL1)