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Aliases for OBSCN Gene

Aliases for OBSCN Gene

  • Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF 2 3
  • Obscurin-MLCK 3 4
  • Obscurin, Myosin Light Chain Kinase 3
  • Obscurin-Myosin Light Chain Kinase 4
  • Obscurin-RhoGEF 4
  • EC 2.7.11.1 4
  • ARHGEF30 3
  • Obscurin 3
  • KIAA1556 4
  • KIAA1639 4
  • UNC89 3

External Ids for OBSCN Gene

Summaries for OBSCN Gene

Entrez Gene Summary for OBSCN Gene

  • 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]

GeneCards Summary for OBSCN Gene

OBSCN (Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include protein serine/threonine kinase activity and calmodulin binding. An important paralog of this gene is MYLK4.

UniProtKB/Swiss-Prot for OBSCN Gene

  • Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.

Gene Wiki entry for OBSCN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OBSCN Gene

Genomics for OBSCN Gene

Genomic Location for OBSCN Gene

Start:
228,208,041 bp from pter
End:
228,378,876 bp from pter
Size:
170,836 bases
Orientation:
Plus strand

Genomic View for OBSCN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OBSCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OBSCN Gene

Regulatory Elements for OBSCN Gene

Proteins for OBSCN Gene

  • Protein details for OBSCN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VST9-OBSCN_HUMAN
    Recommended name:
    Obscurin
    Protein Accession:
    Q5VST9
    Secondary Accessions:
    • Q2A664
    • Q5T7G8
    • Q5T7G9
    • Q5VSU2
    • Q86YC7
    • Q8NHN0
    • Q8NHN1
    • Q8NHN2
    • Q8NHN3
    • Q8NHN4
    • Q8NHN5
    • Q8NHN6
    • Q8NHN7
    • Q8NHN8
    • Q8NHN9
    • Q96AA2
    • Q9HCD3
    • Q9HCL6

    Protein attributes for OBSCN Gene

    Size:
    7968 amino acids
    Molecular mass:
    868484 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Isoform 3 interacts with TTN/titin, ANK1 isoform Mu17/ank1.5, and with calmodulin in a Ca(2+)-independent manner. Associates with fast skeletal muscle myosin (By similarity).
    SequenceCaution:
    • Sequence=CAC85746.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC85749.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC85750.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH71670.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19283.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19284.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OBSCN Gene

    Alternative splice isoforms for OBSCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OBSCN Gene

Proteomics data for OBSCN Gene at MOPED

Post-translational modifications for OBSCN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OBSCN Gene

No data available for DME Specific Peptides for OBSCN Gene

Domains for OBSCN Gene

Gene Families for OBSCN Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

Q5VST9

UniProtKB/Swiss-Prot:

OBSCN_HUMAN
Domain:
  • Contains 1 DH (DBL-homology) domain.:
    • Q5VST9
  • Contains 4 fibronectin type-III domains.:
    • Q5VST9
  • Contains 55 Ig-like (immunoglobulin-like) domains.:
    • Q5VST9
  • Contains 1 IQ domain.:
    • Q5VST9
  • Contains 1 PH domain.:
    • Q5VST9
  • Contains 2 protein kinase domains.:
    • Q5VST9
  • Contains 1 SH3 domain.:
    • Q5VST9
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.:
    • Q5VST9
genes like me logo Genes that share domains with OBSCN: view

Function for OBSCN Gene

Molecular function for OBSCN Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot Function: Involved in myofibrillogenesis. Seems to be involved in assembly of myosin into sarcomeric A bands in striated muscle. Isoform 3 together with ANK1 isoform Mu17/Ank1.5 may provide a molecular link between the sarcoplasmic reticulum and myofibrils.

Enzyme Numbers (IUBMB) for OBSCN Gene

Gene Ontology (GO) - Molecular Function for OBSCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 11448995
genes like me logo Genes that share ontologies with OBSCN: view

Phenotypes for OBSCN Gene

MGI mutant phenotypes for OBSCN:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with OBSCN: view

miRNA for OBSCN Gene

miRTarBase miRNAs that target OBSCN

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for OBSCN Gene

Localization for OBSCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OBSCN Gene

Isoform 3: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk. Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OBSCN Gene COMPARTMENTS Subcellular localization image for OBSCN gene
Compartment Confidence
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
nucleus 2
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for OBSCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030016 myofibril NAS 11717165
GO:0030018 Z disc ISS 11717165
GO:0031430 M band ISS 11717165
genes like me logo Genes that share ontologies with OBSCN: view

Pathways for OBSCN Gene

genes like me logo Genes that share pathways with OBSCN: view

Gene Ontology (GO) - Biological Process for OBSCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007275 multicellular organismal development IEA --
GO:0035023 regulation of Rho protein signal transduction --
GO:0036309 protein localization to M-band ISS 18782775
genes like me logo Genes that share ontologies with OBSCN: view

Compounds for OBSCN Gene

(1) HMDB Compounds for OBSCN Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
genes like me logo Genes that share compounds with OBSCN: view

Transcripts for OBSCN Gene

Unigene Clusters for OBSCN Gene

Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OBSCN Gene

No ASD Table

Relevant External Links for OBSCN Gene

GeneLoc Exon Structure for
OBSCN
ECgene alternative splicing isoforms for
OBSCN

Expression for OBSCN Gene

mRNA expression in normal human tissues for OBSCN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OBSCN Gene

This gene is overexpressed in Muscle - Skeletal (29.0) and Heart - Left Ventricle (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for OBSCN Gene

SOURCE GeneReport for Unigene cluster for OBSCN Gene Hs.656999

genes like me logo Genes that share expressions with OBSCN: view

No data available for mRNA Expression by UniProt/SwissProt for OBSCN Gene

Orthologs for OBSCN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OBSCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OBSCN 35
  • 83.9 (n)
  • 79.36 (a)
cow
(Bos Taurus)
Mammalia MGC166429 36
  • 60 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia OBSCN 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Obscn 35
  • 65.77 (n)
  • 58.59 (a)
Obscn 16
Obscn 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OBSCN 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Obscn 35
  • 70.42 (n)
  • 65.1 (a)
chicken
(Gallus gallus)
Aves OBSCN 35
  • 53.54 (n)
  • 45.05 (a)
OBSCN 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OBSCN 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730564 35
  • 52.56 (n)
  • 44.78 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC572412 35
  • 49.33 (n)
  • 39.35 (a)
obscn 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-22 36
  • 8 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEK1 36
  • 28 (a)
OneToMany
Species with no ortholog for OBSCN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OBSCN Gene

ENSEMBL:
Gene Tree for OBSCN (if available)
TreeFam:
Gene Tree for OBSCN (if available)

Paralogs for OBSCN Gene

Paralogs for OBSCN Gene

Pseudogenes.org Pseudogenes for OBSCN Gene

genes like me logo Genes that share paralogs with OBSCN: view

Variants for OBSCN Gene

Sequence variations from dbSNP and Humsavar for OBSCN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs54108 -- 228,313,217(-) agaga(C/G)gacat intron-variant
rs207951 -- 228,312,857(-) ggtgt(A/T)tggcc intron-variant
rs287603 -- 228,260,986(+) GTTCT(A/G)TTTTC intron-variant
rs287604 -- 228,261,384(+) ttgac(C/T)gggct intron-variant
rs287605 -- 228,262,830(+) TTGAT(A/G)GAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OBSCN Gene

Variant ID Type Subtype PubMed ID
esv32853 CNV Gain 17666407
nsv826908 CNV Gain 20364138
nsv523935 CNV Loss 19592680
dgv537n71 CNV Loss 21882294
nsv873255 CNV Loss 21882294
nsv827019 CNV Loss 20364138
nsv873257 CNV Loss 21882294
nsv873263 CNV Loss 21882294
dgv540n71 CNV Loss 21882294
nsv520340 CNV Gain 19592680
dgv102e199 CNV Deletion 23128226
esv2724284 CNV Deletion 23290073
nsv873265 CNV Loss 21882294
dgv541n71 CNV Loss 21882294
nsv873270 CNV Loss 21882294
nsv873271 CNV Loss 21882294
nsv517545 CNV Loss 19592680
nsv827064 CNV Gain 20364138
nsv873277 CNV Gain 21882294
nsv470780 CNV Loss 18288195
esv995050 CNV Deletion 20482838
esv2659533 CNV Deletion 23128226
esv2659508 CNV Deletion 23128226
dgv542n71 CNV Loss 21882294
nsv873280 CNV Loss 21882294
nsv508697 CNV Loss 20534489
esv2724295 CNV Deletion 23290073

Relevant External Links for OBSCN Gene

HapMap Linkage Disequilibrium report
OBSCN
Human Gene Mutation Database (HGMD)
OBSCN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OBSCN Gene

Disorders for OBSCN Gene

UniProtKB/Swiss-Prot

OBSCN_HUMAN
  • Note=A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1.

Relevant External Links for OBSCN

Genetic Association Database (GAD)
OBSCN
Human Genome Epidemiology (HuGE) Navigator
OBSCN
genes like me logo Genes that share disorders with OBSCN: view

Publications for OBSCN Gene

  1. Identification, tissue expression and chromosomal localization of human obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases. (PMID: 11814696) Russell M.W. … Sonneman K.J. (Gene 2002) 2 3 4 23
  2. Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. (PMID: 11448995) Young P.W. … Gautel M. (J. Cell Biol. 2001) 2 3 4
  3. The complete gene sequence of titin, expression of an unusual ~700 kDa titin isoform and its interaction with obscurin identify a novel Z-line to I-band linking system. (PMID: 11717165) Bang M.-L. … Labeit S. (Circ. Res. 2001) 3 4
  4. Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases. (PMID: 15185077) Sutter S.B. … Russell M.W. (Dev. Genes Evol. 2004) 3 23
  5. Structural analysis of obscurin gene in hypertrophic cardiomyopathy. (PMID: 17716621) Arimura T. … Kimura A. (Biochem. Biophys. Res. Commun. 2007) 3 23

Products for OBSCN Gene

Sources for OBSCN Gene

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