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GENE AND PROTEIN SUMMARY

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Gene name

OBSCN

Description

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Protein class

Enzymes, Kinases, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, SH3-domain containing proteins

Protein evidence

Medium

Entrez gene summary

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

11 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Plasma membrane, Cytoplasm

Additional location(s)

 

Staining summary

Localized to the cytoplasm, nucleus and plasma membrane.

Reliability (APE)

Low

Antibodies in assay

HPA019497, HPA021186
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression at high levels in striated muscle and weaker in several other tissues.

Tissue specificity

Expressed in 72 out of 80 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA019497, HPA021186
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 75% of the cancers

Antibodies in assay

HPA019497, HPA021186
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA019497

HPA021186

HPA019497

HPA021186

A-431 Skin Low
ModerateStrong
A-549 Lung Low
CACO-2 Colon Low
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Low
MCF-7 Pleural effusion Low
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Medium
Strong
U-251 MG Brain Low
ModerateModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA019497 pAb
HPA021186 pAb