OBSCN Gene

Aliases
for OBSCN gene

Previous GC identifers: GC01P226893 GC01M224138 GC01P224855 GC01P225370 GC01P224702 GC01P226462 GC01P198910

Summaries
for OBSCN gene

Genomic Views
for OBSCN gene

RefSeq DNA sequence:

NC_000001.10  NC_018912.1  NT_167186.1  

SwitchGear Promoter luciferase reporter plasmid: OBSCN promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OBSCN

OBSCN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P228395:  view genomic region     (about GC identifiers)

Proteins
for OBSCN gene

6/16 PDB 3D structures from and Proteopedia for OBSCN (see all 16):

1V1C (3D)        2CR6 (3D)        2DKU (3D)        2DM7 (3D)        2E7B (3D)        2EDF (3D)    

Explore the universe of human proteins at neXtProt for OBSCN: NX_Q5VST9

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for OBSCN
	GenScript Custom Purified and Recombinant Proteins Services for OBSCN
	Novus Biologicals OBSCN Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for OBSCN

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of OBSCN
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	GenScript Custom Superior Antibodies Services for OBSCN
	Novus Biologicals OBSCN Antibodies
	Search for Antibodies for OBSCN at Abcam
	Uscn Antibodies for OBSCN
	Search ThermoFisher Antibodies for OBSCN

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for OBSCN
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for OBSCN

Protein Domains /
Families
for OBSCN gene

ProtoNet protein and cluster: Q5VST9

Function
for OBSCN gene

Enzyme Number (IUBMB): EC 2.7.11.1¹

miRNA Products:		OriGene 3'-UTR Clone (see all 2): OBSCN Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OBSCN
		1 QIAGEN miScript miRNA Assays for microRNA that regulate OBSCN:
		hsa-miR-1294
		SwitchGear 3'UTR luciferase reporter plasmid: OBSCN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OBSCN (see all 4) OriGene shRNA RFP: OBSCN OriGene siRNA: OBSCN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat OBSCN

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for OBSCN

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for OBSCN OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for OBSCN OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): OBSCN (NM_001098623)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for OBSCN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OBSCN

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for OBSCN
		Search LifeMap BioReagents cell lines for OBSCN

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSCN

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

(inferred from 1 allele) (MGI details for Obscn)

Pathways & Interactions
for OBSCN gene

	Super-pathway	contained gene-specific pathways
1	Cell death signalling via NRAGE, NRIF and NADE	Cell death signalling via NRAGE, NRIF and NADE 1.00 G alpha (12/13) signalling events 0.39 NRAGE signals death through JNK 0.74 Rho GTPase cycle 0.25 p75 NTR receptor-mediated signalling 0.73 Signaling by Rho GTPases 0.25
2	Signaling by GPCR	Signaling by GPCR 1.00 Signal Transduction 0.56 GPCR downstream signaling 0.89
3	Regulation of RhoA activity	Regulation of RhoA activity 1.00
4	Signaling by FGFR	Signalling by NGF 0.52

1 BioSystems Pathway for OBSCN

Regulation of RhoA activity

5/10        Reactome Pathways for OBSCN

	GPCR downstream signaling
	Signaling by Rho GTPases
	G alpha (12/13) signalling events
	Cell death signalling via NRAGE, NRIF and NADE
	Signaling by GPCR

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

Drugs & Compounds
for OBSCN gene

Transcripts
for OBSCN gene

Expression
for OBSCN gene

OBSCN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGAGCGCCG

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for OBSCN Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse / rat OBSCN
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OBSCN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat OBSCN

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSCN

Orthologs
for OBSCN gene

Paralogs
for OBSCN gene

Paralogs for OBSCN gene

STK17B²  DAPK2²  MYLK2²  TTN²  MYLK3²  STK17A²  DAPK3²  SPEG²  

MYLK4²  DAPK1²  MYLK²  OBSL1²  

18/62 SIMAP similar genes for OBSCN using alignment to 13 protein entries:     OBSCN_HUMAN (see all proteins) (see all similar genes):

RPS6KA1    HUNK    PRKD3    STK17B    DAPK1    MYLK4

RPS6KA2    STK25    BRSK2    DAPK3    RPS6KA3    TRIB1

PHKG2    PNCK    STK17A    MARK4    STK36    ULK1

OBSCN for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for OBSCN
PGOHUM00000245240

Genomic Variants
for OBSCN gene

10/3053 NCBI SNPs in OBSCN are shown (see all 3053)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs741426481,2	C,	--	198908810(+)	GGGAGG/CGGGTG	3	--	us2k1		3		WA CSA	121
rs1137944411,2		--	198908821(+)	GGGCAC/TGTATT	3	--	us2k1		3		CSA WA	120
rs741426491,2	C,	--	198909061(+)	CGTTAC/TTCCAG	3	--	us2k1		1		WA	2
rs1120885511,2	C,	--	198909564(+)	TCCTGG/ACCAGG	3	--	us2k1		1		WA	2
rs741426511,2	C,	--	198909789(+)	CCTGCC/TCCCAT	3	--	us2k1		5		WA CSA EA	242
rs1122334691,2	C,	--	198909942(+)	CCCCA-/CATGCC	3	--	us2k1		1		CSA	2
rs730954541,2	C,	--	198910475(+)	CCCGGG/ACTATT	3	--	us2k1		1		WA	2
rs770701491,2	F,	--	198910632(+)	CTGGTC/GCTGGG	3	--	us2k1		2		WA EA	238
rs1128951081,2		--	198910643(+)	CCCTCG/AGAGGG	3	--	us2k1		3		CSA WA	121
rs1135421461,2		--	198910659(+)	AGACCC/TGGCAG	3	--	us2k1		3		CSA WA	121

HapMap Linkage Disequilibrium report for OBSCN (228395831 - 228566575 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 14 variations for OBSCN
     11 CNVs: 84884 74923 29849 48265 84881 84885 29848 48266 74925 6812 48267
     3 Indels: 84883 74924 84882
Human Gene Mutation Database (HGMD): OBSCN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OBSCN

DNA2.0 Custom Variant and Variant Library Synthesis for OBSCN

Disorders / Diseases
for OBSCN gene

Publications
for OBSCN gene

PubMed articles for OBSCN gene, integrated from 9 sources (see all 36): (articles sorted by number of sources associating them with OBSCN)

Utopia: connect your pdf to the dynamic world of online information

1. Identification, tissue expression and chromosomal localization of human obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases. (PubMed id 11814696)^{1, 2, 3, 9} Russell M.W.... Sonneman K.J. (2002)
2. Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. (PubMed id 11448995)^{1, 2, 3} Young P.W.... Gautel M. (2001)
3. Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing. (PubMed id 16205939)^{1, 2} Borisov A.B.... Russell M.W. (2006)
4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
5. Complete human gene structure of obscurin: implications for isoform generation by differential splicing. (PubMed id 16625316)^{1, 2} Fukuzawa A.... Gautel M. (2005)
6. Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. (PubMed id 12527750)^{1, 2} Bagnato P.... Sorrentino V. (2003)
7. 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. (PubMed id 11717165)^{1, 2} Bang M.-L....Labeit S. (2001)
8. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)^{1, 2} Nagase T.... Ohara O. (2000)
9. Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases. (PubMed id 15185077)^{1, 9} Sutter S.B.... Russell M.W. (2004)
10. Structural analysis of obscurin gene in hypertrophic cardiomyopathy. (PubMed id 17716621)^{1, 9} Arimura T....Kimura A. (2007)

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for OBSCN gene