ENSG00000154358


Homo sapiens

Features
Gene ID: ENSG00000154358
  
Biological name :OBSCN
  
Synonyms : OBSCN / obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF / Q5VST9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q42.13
Gene start: 228208130
Gene end: 228378874
  
Corresponding Affymetrix probe sets: 216085_at (Human Genome U133 Plus 2.0 Array)   229854_at (Human Genome U133 Plus 2.0 Array)   233029_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000455507
Ensembl peptide - ENSP00000455500
Ensembl peptide - ENSP00000455688
Ensembl peptide - ENSP00000490900
Ensembl peptide - ENSP00000489816
Ensembl peptide - ENSP00000284548
Ensembl peptide - ENSP00000355667
Ensembl peptide - ENSP00000355668
Ensembl peptide - ENSP00000409493
NCBI entrez gene - 84033     See in Manteia.
OMIM - 608616
RefSeq - XM_017002473
RefSeq - XM_017002464
RefSeq - XM_017002465
RefSeq - XM_017002466
RefSeq - XM_017002467
RefSeq - XM_017002468
RefSeq - XM_017002469
RefSeq - XM_017002470
RefSeq - XM_017002471
RefSeq - XM_017002472
RefSeq - NM_001098623
RefSeq - NM_001271223
RefSeq - NM_052843
RefSeq - XM_005273287
RefSeq - XM_005273291
RefSeq - XM_005273298
RefSeq - XM_005273307
RefSeq - XM_006711822
RefSeq - XM_006711823
RefSeq - XM_006711827
RefSeq - XM_006711829
RefSeq - XM_011544297
RefSeq - XM_011544299
RefSeq - XM_017002443
RefSeq - XM_017002444
RefSeq - XM_017002445
RefSeq - XM_017002446
RefSeq - XM_017002447
RefSeq - XM_017002448
RefSeq - XM_017002449
RefSeq - XM_017002450
RefSeq - XM_017002451
RefSeq - XM_017002452
RefSeq - XM_017002453
RefSeq - XM_017002454
RefSeq - XM_017002455
RefSeq - XM_017002456
RefSeq - XM_017002457
RefSeq - XM_017002458
RefSeq - XM_017002459
RefSeq - XM_017002460
RefSeq - XM_017002461
RefSeq - XM_017002462
RefSeq - XM_017002463
RefSeq Peptide - NP_001258152
RefSeq Peptide - NP_443075
RefSeq Peptide - NP_001092093
swissprot - H3BQA7
swissprot - A6NGQ3
swissprot - Q5VST9
swissprot - A0A0A0MRI8
swissprot - A0A1B0GTS2
swissprot - H3BPW6
Ensembl - ENSG00000154358
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 obscnbENSDARG00000022101Danio rerio
 OBSCNENSGALG00000032534Gallus gallus
 ObscnENSMUSG00000061462Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TTN / titin / Q8WZ42ENSG0000015565715
HMCN1 / Q96RW7 / hemicentin 1ENSG0000014334111
HMCN2 / Q8NDA2 / hemicentin 2ENSG0000014835711
OBSL1 / O75147 / obscurin like 1ENSG000001240067
IGSF10 / Q6WRI0 / immunoglobulin superfamily member 10ENSG000001525804
MXRA5 / Q9NR99 / matrix remodeling associated 5ENSG000001018254
PALLD / Q8WX93 / palladin, cytoskeletal associated proteinENSG000001291162
MYPN / Q86TC9 / myopalladinENSG000001383472
MYOT / Q9UBF9 / myotilinENSG000001207291


Protein motifs (from Interpro)
Interpro ID Name
 IPR000048  IQ motif, EF-hand binding site
 IPR000219  Dbl homology (DH) domain
 IPR000719  Protein kinase domain
 IPR001849  Pleckstrin homology domain
 IPR003006  Immunoglobulin/major histocompatibility complex, conserved site
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR011993  PH-like domain superfamily
 IPR013098  Immunoglobulin I-set
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR015726  Serine/threonine protein kinase, striated muscle-specific
 IPR017441  Protein kinase, ATP binding site
 IPR035526  Obscurin, SH3 domain
 IPR035899  Dbl homology (DH) domain superfamily
 IPR036028  SH3-like domain superfamily
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0036309 protein localization to M-band ISS
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0045214 sarcomere organization TAS
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0030016 myofibril NAS
 cellular_componentGO:0030017 sarcomere IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0031430 M band IEA
 cellular_componentGO:0042383 sarcolemma IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008307 structural constituent of muscle NAS
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030506 ankyrin binding IPI
 molecular_functionGO:0031432 titin binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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