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OBSL1

GENERAL INFORMATION

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

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA036404 , HPA036405
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 23363

UniProt

 O75147 (UniProt - Evidence at protein level)

neXtProt

 NX_O75147

Antibodypedia

 OBSL1 antibodies

PROTEIN BROWSER
OBSL1-001
OBSL1-002
OBSL1-003
OBSL1-005
OBSL1-014
OBSL1-016
OBSL1-017

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OBSL1-001
ENSP00000362983
ENST00000373876
A6NN50 [Direct mapping]
Obscurin-like protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 1804 aa
197.1 kDa 		No 0
OBSL1-002
ENSP00000362980
ENST00000373873
O75147 [Direct mapping]
Obscurin-like protein 1
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0007010 [cytoskeleton organization]
GO:0007030 [Golgi organization]
GO:0007088 [regulation of mitotic nuclear division]
GO:0008093 [cytoskeletal adaptor activity]
GO:0014704 [intercalated disc]
GO:0030018 [Z disc]
GO:0031430 [M band]
GO:0034067 [protein localization to Golgi apparatus]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050775 [positive regulation of dendrite morphogenesis]
GO:0055003 [cardiac myofibril assembly]
GO:1990393 [3M complex]
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 1025 aa
113.3 kDa 		No 0
OBSL1-003
ENSP00000289656
ENST00000289656
A8MSZ8 [Direct mapping]
Obscurin-like protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
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 612 aa
68.1 kDa 		No 0
OBSL1-005
ENSP00000403665
ENST00000456147
H0Y684 [Direct mapping]
Obscurin-like protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
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 445 aa
47.7 kDa 		No 0
OBSL1-014
ENSP00000385636
ENST00000404537
O75147 [Direct mapping]
Obscurin-like protein 1
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0007010 [cytoskeleton organization]
GO:0007030 [Golgi organization]
GO:0007088 [regulation of mitotic nuclear division]
GO:0008093 [cytoskeletal adaptor activity]
GO:0014704 [intercalated disc]
GO:0030018 [Z disc]
GO:0031430 [M band]
GO:0034067 [protein localization to Golgi apparatus]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050775 [positive regulation of dendrite morphogenesis]
GO:0055003 [cardiac myofibril assembly]
GO:1990393 [3M complex]
Show all
 1896 aa
206.9 kDa 		No 0
OBSL1-016
ENSP00000474519
ENST00000603926
O75147 [Direct mapping]
Obscurin-like protein 1
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005794 [Golgi apparatus]
GO:0005813 [centrosome]
GO:0007010 [cytoskeleton organization]
GO:0007030 [Golgi organization]
GO:0007088 [regulation of mitotic nuclear division]
GO:0008093 [cytoskeletal adaptor activity]
GO:0014704 [intercalated disc]
GO:0030018 [Z disc]
GO:0031430 [M band]
GO:0034067 [protein localization to Golgi apparatus]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050775 [positive regulation of dendrite morphogenesis]
GO:0055003 [cardiac myofibril assembly]
GO:1990393 [3M complex]
Show all
 1543 aa
168.5 kDa 		No 0
OBSL1-017
ENSP00000475126
ENST00000604031
S4R463 [Direct mapping]
Obscurin-like protein 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 412 aa
44.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.