OBSL1

GENERAL INFORMATION

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Gene name

OBSL1

Gene description

Obscurin-like 1

Protein class

Disease related genes
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:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression that in some tissues including renal tubules was combined with membranous expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA036404 , HPA036405
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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

Heart 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:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

OBSL1 (HGNC Symbol)

Synonyms

KIAA0657

Description

Obscurin-like 1 (HGNC Symbol)

Entrez gene summary

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

Chromosome

2

Cytoband

q35

Chromosome location (bp)

219550729 - 219571859

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124006 (version 78.38)

Entrez gene

23363

UniProt

O75147 (UniProt - Evidence at protein level)

neXtProt

NX_O75147

Antibodypedia

OBSL1 antibodies


PROTEIN BROWSER

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ENST00000289656
 
ENST00000373873
 
ENST00000373876
 
ENST00000404537
 
ENST00000456147
 
ENST00000603926
 
ENST00000604031
 
 
 
 


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)

OBSL1-001 ENSP00000362983
ENST00000373876
A6NN50
Show all »
Show » Show » 1804 197.1 No 0
OBSL1-002 ENSP00000362980
ENST00000373873
O75147
Show all »
Show » Show » 1025 113.3 No 0
OBSL1-003 ENSP00000289656
ENST00000289656
A8MSZ8
Show all »
Show » Show » 612 68.1 No 0
OBSL1-005 ENSP00000403665
ENST00000456147
Show » Show » 445 47.7 No 0
OBSL1-014 ENSP00000385636
ENST00000404537
O75147
Show all »
Show » Show » 1896 206.9 No 0
OBSL1-016 ENSP00000474519
ENST00000603926
O75147
Show all »
Show » Show » 1543 168.5 No 0
OBSL1-017 ENSP00000475126
ENST00000604031
Show » Show » 412 44.3 No 0