OBSL1 (obscurin like cytoskeletal adaptor 1)

2014-11-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 23363
MIM: 610991
HGNC: 29092
Ensembl: ENSG00000124006

Variants:

dbSNP: 23363
ClinVar: 23363
TCGA: ENSG00000124006
COSMIC: OBSL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124006ENST00000289656A8MSZ8
ENSG00000124006ENST00000373873O75147
ENSG00000124006ENST00000373876A6NN50
ENSG00000124006ENST00000404537O75147
ENSG00000124006ENST00000456147H0Y684
ENSG00000124006ENST00000603926O75147
ENSG00000124006ENST00000604031S4R463

Expression (GTEx)

0
50
100
150
200
250
300
350

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184776062008Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.73
217370582011Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.38
194811952009The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.34
172893442007Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin.32
247936952014The 3M complex maintains microtubule and genome integrity.18
221565402011The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.16
230186782012Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.16
247116432014Identifying biological pathways that underlie primordial short stature using network analysis.15
198771762010OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.13
276542942016The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis.13

Citation

Dessen P

OBSL1 (obscurin like cytoskeletal adaptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71088/obsl1