OBSCN

GENERAL INFORMATION

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Gene name

OBSCN

Gene description

Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enhanced (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 2 antibodies.
HPA019497 , HPA021186
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

OBSCN (HGNC Symbol)

Synonyms

ARHGEF30, KIAA1556, KIAA1639, UNC89

Description

Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (HGNC Symbol)

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]

Chromosome

1

Cytoband

q42.13

Chromosome location (bp)

228208130 - 228378876

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000154358 (version 78.38)

Entrez gene

84033

UniProt

Q5VST9 (UniProt - Evidence at protein level)

neXtProt

NX_Q5VST9

Antibodypedia

OBSCN antibodies


PROTEIN BROWSER

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ENST00000284548
 
ENST00000366706
 
ENST00000366707
 
ENST00000422127
 
ENST00000474237
 
ENST00000483539
 
ENST00000570156
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

OBSCN-001 ENSP00000284548
ENST00000284548
Q5VST9
Show all »
Show » Show » 6620 721.5 No 0
OBSCN-002 ENSP00000355667
ENST00000366706
Show » Show » 858 94.7 No 0
OBSCN-006 ENSP00000455500
ENST00000474237
Show » 68 7.2 No 0
OBSCN-009 ENSP00000455688
ENST00000483539
Show » Show » 1593 175 No 0
OBSCN-011 ENSP00000355668
ENST00000366707
A6NGQ3
Show all »
Show » Show » 8925 973.2 No 0
OBSCN-201 ENSP00000409493
ENST00000422127
Q5VST9
Show all »
Show » Show » 7968 868.5 No 0
OBSCN-202 ENSP00000455507
ENST00000570156
H3BPX2
Show all »
Show » Show » 8923 973 No 0