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Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [ Mus musculus (house mouse) ]

Gene ID: 380698, updated on 12-Aug-2019

Summary

Official Symbol
Obscnprovided by MGI
Official Full Name
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFprovided by MGI
Primary source
MGI:MGI:2681862
See related
Ensembl:ENSMUSG00000061462
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm878; UNC89; BC046431
Summary
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 800 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 is one of three giant sacromeric signaling proteins that includes titin and nebulin. It may have a role in the organization of myofibrils during assembly and also may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been described although the full-length nature is not known for all splicing variants. [provided by RefSeq, Jan 2010]
Expression
Biased expression in heart adult (RPKM 40.7), mammary gland adult (RPKM 7.2) and 1 other tissue See more
Orthologs

Genomic context

See Obscn in Genome Data Viewer
Location:
11; 11 B1.3
Exon count:
114
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (58994256..59136375, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (58807758..58949877, complement)

Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 17 Neighboring gene uncharacterized LOC115487725 Neighboring gene H3.4 histone Neighboring gene tripartite motif-containing 11 Neighboring gene IBA57 homolog, iron-sulfur cluster assembly Neighboring gene gap junction protein, gamma 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Chemically induced (ENU) (1) 

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC51514

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
ankyrin binding ISO
Inferred from Sequence Orthology
more info
 
cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
kinase activity IEA
Inferred from Electronic Annotation
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,4,5-trisphosphate binding ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-3,4-bisphosphate binding ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-3-phosphate binding ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-4,5-bisphosphate binding ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-4-phosphate binding ISO
Inferred from Sequence Orthology
more info
 
phosphatidylinositol-5-phosphate binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
titin binding ISO
Inferred from Sequence Orthology
more info
 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band IDA
Inferred from Direct Assay
more info
PubMed 
M band ISO
Inferred from Sequence Orthology
more info
 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc IDA
Inferred from Direct Assay
more info
PubMed 
Z disc ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytosol ISO
Inferred from Sequence Orthology
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
intercalated disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear body ISO
Inferred from Sequence Orthology
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere ISO
Inferred from Sequence Orthology
more info
 
striated muscle myosin thick filament ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
obscurin
Names
obscurin-MLCK
obscurin-RhoGEF
obscurin-myosin light chain kinase
NP_001164983.2
NP_954603.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001171512.2NP_001164983.2  obscurin isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1). The RefSeq Project created this record to better support genomic annotation of the full gene length but the combination of exons and splice sites still needs to be experimentally confirmed.
    Source sequence(s)
    AL645854, AL662809
    Consensus CDS
    CCDS56775.1
    UniProtKB/TrEMBL
    H7BX05
    Related
    ENSMUSP00000038264.7, ENSMUST00000047441.13
    Conserved Domains (15) summary
    cd00096
    Location:53755444
    Ig; Immunoglobulin domain
    smart00408
    Location:63506418
    IGc2; Immunoglobulin C-2 Type
    cd12025
    Location:58315893
    SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
    smart00060
    Location:76207698
    FN3; Fibronectin type 3 domain
    smart00220
    Location:65626815
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:246326
    IG; Immunoglobulin
    smart00410
    Location:63496427
    IG_like; Immunoglobulin like
    cd00063
    Location:47494834
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:998
    I-set; Immunoglobulin I-set domain
    cd13239
    Location:61116235
    PH_Obscurin; Obscurin pleckstrin homology (PH) domain
    pfam00047
    Location:42114279
    ig; Immunoglobulin domain
    pfam13895
    Location:32583337
    Ig_2; Immunoglobulin domain
    cl02571
    Location:59266102
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cl11960
    Location:890
    Ig; Immunoglobulin domain
    cl21453
    Location:65596815
    PKc_like; Protein Kinases, catalytic domain
  2. NM_199152.3NP_954603.3  obscurin isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter protein (isoform 2). The RefSeq Project created this record to better support genomic annotation of the full gene length but the combination of exons and splice sites still needs to be experimentally confirmed.
    Source sequence(s)
    AL645854, AL662809
    Consensus CDS
    CCDS56774.1
    UniProtKB/TrEMBL
    E9QQ96
    Related
    ENSMUSP00000049737.7, ENSMUST00000052872.14
    Conserved Domains (14) summary
    cd00096
    Location:60286097
    Ig; Immunoglobulin domain
    smart00015
    Location:57545775
    IQ; Calmodulin-binding motif
    smart00408
    Location:70037071
    IGc2; Immunoglobulin C-2 Type
    cd12025
    Location:64846546
    SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
    smart00409
    Location:70027080
    IG; Immunoglobulin
    smart00410
    Location:53175398
    IG_like; Immunoglobulin like
    cd00063
    Location:54025487
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:998
    I-set; Immunoglobulin I-set domain
    cd13239
    Location:67646888
    PH_Obscurin; Obscurin pleckstrin homology (PH) domain
    pfam00047
    Location:47724840
    ig; Immunoglobulin domain
    pfam00169
    Location:67786882
    PH; PH domain
    pfam13895
    Location:34673546
    Ig_2; Immunoglobulin domain
    cl02571
    Location:65796755
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    cl11960
    Location:890
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000077.6 Reference GRCm38.p6 C57BL/6J

    Range
    58994256..59136375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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