OBSL1 (obscurin like cytoskeletal adaptor 1)

2014-11-01 Affiliation

Identity

HGNC

OBSL1

LOCATION

2q35

LOCUSID

23363

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000124006	ENST00000289656	A8MSZ8
ENSG00000124006	ENST00000373873	O75147
ENSG00000124006	ENST00000373876	A6NN50
ENSG00000124006	ENST00000404537	O75147
ENSG00000124006	ENST00000456147	H0Y684
ENSG00000124006	ENST00000603926	O75147
ENSG00000124006	ENST00000604031	S4R463

Expression (GTEx)

100

150

200

250

300

350

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33135300	2021	Three M syndrome 2 in two Indian patients.	1
33258289	2021	A rare cause of syndromic short stature: 3M syndrome in three families.	4
34597859	2021	Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.	2
33135300	2021	Three M syndrome 2 in two Indian patients.	1
33258289	2021	A rare cause of syndromic short stature: 3M syndrome in three families.	4
34597859	2021	Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.	2
30980518	2019	Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.	8
30980518	2019	Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.	8
27796265	2017	A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.	6
27989621	2017	Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.	20
27796265	2017	A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.	6
27989621	2017	Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.	20
27654294	2016	The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis.	23
27654294	2016	The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis.	23
24711643	2014	Identifying biological pathways that underlie primordial short stature using network analysis.	20

Citation

Dessen P

OBSL1 (obscurin like cytoskeletal adaptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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