OBSL1

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)

220415451 - 220436581

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124006 (version 75.37)

Entrez gene

23363

UniProt

O75147 (UniProt - Evidence at protein level)

neXtProt

NX_O75147

Antibodypedia

OBSL1 antibodies
 

PROTEIN VIEW

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OBSL1-001
 
OBSL1-002
 
OBSL1-003
 
OBSL1-005
 
OBSL1-014
 
OBSL1-016
 
OBSL1-017
 
OBSL1-201
 
OBSL1-202
 
 
 
 
 

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
E7ER99
Show all »
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
S4R3M6
Show all »
Show » Show » 1543 168.5 No 0
OBSL1-017 ENSP00000475126
ENST00000604031
Show » Show » 412 44.3 No 0
OBSL1-201 ENSP00000265317
ENST00000265317
E7ER99
Show all »
Show » Show » 442 47.5 No 0
OBSL1-202 ENSP00000265318
ENST00000265318
J3KN49
Show all »
Show » Show » 1401 153 No 0