Cell atlas - OBSCN - The Human Protein Atlas

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OBSCN

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Plasma membrane

Human cell
	Cytosol
	Plasma Membrane

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GENERAL INFORMATION
Gene name	OBSCN
Gene description	Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the plasma membrane & cytosol.
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Localized to the Plasma membrane (approved), Cytosol (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA021186
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the plasma membrane & cytosol.

Main location

Plasma membrane (approved), Cytosol (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA021186	A-431	Nuclear bodies
			Plasma membrane
			Cytosol
	HPA021186	U-2 OS	Plasma membrane
	HPA021186	U-2 OS	Cytosol
	HPA021186	U-251 MG	Nuclear bodies
			Plasma membrane
			Cytosol

GENE INFORMATION
Gene name	OBSCN (HGNC Symbol)
Synonyms	ARHGEF30, KIAA1556, KIAA1639, UNC89
Description	Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (HGNC Symbol)
Entrez gene summary	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]
Chromosome	1
Cytoband	q42.13
Chromosome location (bp)	228208130 - 228378876
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000154358 (version 83.38)
Entrez gene	84033
UniProt	Q5VST9 (UniProt - Evidence at protein level)
neXtProt	NX_Q5VST9
Antibodypedia	OBSCN antibodies

PROTEIN BROWSER

OBSCN-001	OBSCN-002	OBSCN-006	OBSCN-009	OBSCN-011	OBSCN-201	OBSCN-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
OBSCN-001 ENSP00000284548 ENST00000284548	Q5VST9 [Direct mapping] Obscurin Show all	Enzymes ENZYME proteins Transferases Kinases CAMK Ser/Thr protein kinases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004674 [protein serine/threonine kinase activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005516 [calmodulin binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0006468 [protein phosphorylation] GO:0007264 [small GTPase mediated signal transduction] GO:0007275 [multicellular organismal development] GO:0008307 [structural constituent of muscle] GO:0030016 [myofibril] GO:0030018 [Z disc] GO:0030506 [ankyrin binding] GO:0031430 [M band] GO:0031432 [titin binding] GO:0035023 [regulation of Rho protein signal transduction] GO:0036309 [protein localization to M-band] GO:0043065 [positive regulation of apoptotic process] GO:0043547 [positive regulation of GTPase activity] GO:0045214 [sarcomere organization] GO:0046872 [metal ion binding] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0051056 [regulation of small GTPase mediated signal transduction] GO:0097190 [apoptotic signaling pathway] GO:0098779 [mitophagy in response to mitochondrial depolarization] Show all	6620 aa 721.5 kDa	No	0
OBSCN-002 ENSP00000355667 ENST00000366706	A0A0A0MRI8 [Direct mapping] Obscurin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	858 aa 94.7 kDa	No	0
OBSCN-006 ENSP00000455500 ENST00000474237	H3BPW6 [Direct mapping] Obscurin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		68 aa 7.2 kDa	No	0
OBSCN-009 ENSP00000455688 ENST00000483539	H3BQA7 [Direct mapping] Obscurin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	1593 aa 175 kDa	No	0
OBSCN-011 ENSP00000355668 ENST00000366707	A6NGQ3 [Direct mapping] Obscurin Show all	MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004672 [protein kinase activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0006468 [protein phosphorylation] GO:0035023 [regulation of Rho protein signal transduction] GO:0043547 [positive regulation of GTPase activity] Show all	8925 aa 973.2 kDa	No	0
OBSCN-201 ENSP00000409493 ENST00000422127	Q5VST9 [Direct mapping] Obscurin Show all	Enzymes ENZYME proteins Transferases Kinases CAMK Ser/Thr protein kinases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005516 [calmodulin binding] GO:0005524 [ATP binding] GO:0005829 [cytosol] GO:0006468 [protein phosphorylation] GO:0007264 [small GTPase mediated signal transduction] GO:0007275 [multicellular organismal development] GO:0008307 [structural constituent of muscle] GO:0030016 [myofibril] GO:0030018 [Z disc] GO:0030506 [ankyrin binding] GO:0031430 [M band] GO:0031432 [titin binding] GO:0035023 [regulation of Rho protein signal transduction] GO:0036309 [protein localization to M-band] GO:0043065 [positive regulation of apoptotic process] GO:0043547 [positive regulation of GTPase activity] GO:0045214 [sarcomere organization] GO:0046872 [metal ion binding] GO:0048011 [neurotrophin TRK receptor signaling pathway] GO:0051056 [regulation of small GTPase mediated signal transduction] GO:0097190 [apoptotic signaling pathway] GO:0098779 [mitophagy in response to mitochondrial depolarization] Show all	7968 aa 868.5 kDa	No	0
OBSCN-202 ENSP00000455507 ENST00000570156	H3BPX2 [Direct mapping] Obscurin Show all	MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004672 [protein kinase activity] GO:0005089 [Rho guanyl-nucleotide exchange factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0006468 [protein phosphorylation] GO:0030017 [sarcomere] GO:0030018 [Z disc] GO:0031430 [M band] GO:0035023 [regulation of Rho protein signal transduction] GO:0043547 [positive regulation of GTPase activity] Show all	8923 aa 973 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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