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OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [ Homo sapiens (human) ]

Gene ID: 84033, updated on 5-Sep-2021

Summary

Official Symbol
OBSCNprovided by HGNC
Official Full Name
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEFprovided by HGNC
Primary source
HGNC:HGNC:15719
See related
Ensembl:ENSG00000154358 MIM:608616
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UNC89; ARHGEF30
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]
Expression
Broad expression in heart (RPKM 8.6), prostate (RPKM 2.9) and 15 other tissues See more
Orthologs
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Genomic context

See OBSCN in Genome Data Viewer
Location:
1q42.13
Exon count:
118
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (228208044..228378876)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228395745..228566577)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene IBA57 divergent transcript Neighboring gene iron-sulfur cluster assembly factor IBA57 Neighboring gene OBSCN antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4086 Neighboring gene uncharacterized LOC101927401 Neighboring gene tripartite motif containing 11 Neighboring gene microRNA 6742 Neighboring gene tripartite motif containing 17

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14124, KIAA1556, KIAA1639, MGC120409, MGC120410, MGC120411, MGC120412, MGC138590, DKFZp666E245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables cell adhesion molecule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-3,4-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol-5-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
enables titin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization to M-band ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
involved_in sarcomere organization TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in M band ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in myofibril NAS
Non-traceable Author Statement
more info
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
obscurin
Names
obscurin, myosin light chain kinase
obscurin-MLCK
NP_001092093.2
NP_001258152.2
NP_001373054.1
NP_443075.3

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_032122.1 RefSeqGene

    Range
    4885..175717
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_412

mRNA and Protein(s)

  1. NM_001098623.2NP_001092093.2  obscurin isoform b

    See identical proteins and their annotated locations for NP_001092093.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and the 3' coding region, compared to variant 1. The resulting isoform (b) contains a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL353593, AL359510, AL670729
    Consensus CDS
    CCDS58065.1
    UniProtKB/Swiss-Prot
    Q5VST9
    Related
    ENSP00000409493.1, ENST00000422127.5
    Conserved Domains (15) summary
    cd00096
    Location:51435213
    Ig; Immunoglobulin domain
    smart00408
    Location:74777543
    IGc2; Immunoglobulin C-2 Type
    cd12025
    Location:56025664
    SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
    smart00060
    Location:75577635
    FN3; Fibronectin type 3 domain
    smart00220
    Location:64686721
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00410
    Location:248328
    IG_like; Immunoglobulin like
    cd00063
    Location:45234608
    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:1099
    I-set; Immunoglobulin I-set domain
    cd13239
    Location:58826006
    PH_Obscurin; Obscurin pleckstrin homology (PH) domain
    cd14107
    Location:64656721
    STKc_obscurin_rpt1; Catalytic kinase domain, first repeat, of the Giant Serine/Threonine Kinase Obscurin
    cd14110
    Location:76687924
    STKc_obscurin_rpt2; Catalytic kinase domain, second repeat, of the Giant Serine/Threonine Kinase Obscurin
    pfam00047
    Location:811872
    ig; Immunoglobulin domain
    pfam13895
    Location:31013181
    Ig_2; Immunoglobulin domain
    cl02571
    Location:56975873
    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:991
    Ig; Immunoglobulin domain
  2. NM_001271223.3NP_001258152.2  obscurin isoform IC

    Status: REVIEWED

    Description
    Transcript Variant: This variant (IC) represents an inferred complete model that includes additional in-frame coding exons with consensus splice sites. The exons included in this inferred variant are supported by a combination of available cDNA data and sequence analysis of repetitive exons. This transcript represents a predicted protein (isoform IC) of 8,923 amino acids.
    Source sequence(s)
    AL353593, AL359510, AL670729
    Consensus CDS
    CCDS59204.1
    UniProtKB/TrEMBL
    A6NGQ3
    Related
    ENSP00000455507.2, ENST00000570156.7
    Conserved Domains (16) summary
    cd00096
    Location:61006170
    Ig; Immunoglobulin domain
    smart00408
    Location:84348500
    IGc2; Immunoglobulin C-2 Type
    cd12025
    Location:65596621
    SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
    smart00060
    Location:85148592
    FN3; Fibronectin type 3 domain
    smart00220
    Location:74257678
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    smart00409
    Location:46794754
    IG; Immunoglobulin
    smart00410
    Location:248328
    IG_like; Immunoglobulin like
    cd00063
    Location:54805565
    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:1099
    I-set; Immunoglobulin I-set domain
    cd13239
    Location:68396963
    PH_Obscurin; Obscurin pleckstrin homology (PH) domain
    cd14107
    Location:74227678
    STKc_obscurin_rpt1; Catalytic kinase domain, first repeat, of the Giant Serine/Threonine Kinase Obscurin
    cd14110
    Location:86258879
    STKc_obscurin_rpt2; Catalytic kinase domain, second repeat, of the Giant Serine/Threonine Kinase Obscurin
    pfam00047
    Location:811872
    ig; Immunoglobulin domain
    pfam13895
    Location:35303610
    Ig_2; Immunoglobulin domain
    cl02571
    Location:66546830
    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:991
    Ig; Immunoglobulin domain
  3. NM_001386125.1NP_001373054.1  obscurin isoform c

    Status: REVIEWED

    Source sequence(s)
    AL353593, AL359510, AL670729
    Related
    ENSP00000505517.1, ENST00000680850.1
    Conserved Domains (16) summary
    cd12025
    Location:65596621
    SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
    smart00060
    Location:85148592
    FN3; Fibronectin type 3 domain
    smart00325
    Location:66546832
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    smart00409
    Location:32633340
    IG; Immunoglobulin
    smart00410
    Location:46794754
    IG_like; Immunoglobulin like
    cd00063
    Location:54805565
    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 ...
    cd13239
    Location:68396963
    PH_Obscurin; Obscurin pleckstrin homology (PH) domain
    cd14107
    Location:74227678
    STKc_obscurin_rpt1; Catalytic kinase domain, first repeat, of the Giant Serine/Threonine Kinase Obscurin
    cd14110
    Location:86258881
    STKc_obscurin_rpt2; Catalytic kinase domain, second repeat, of the Giant Serine/Threonine Kinase Obscurin
    pfam15822
    Location:77608033
    MISS; MAPK-interacting and spindle-stabilizing protein-like
    pfam07679
    Location:1099
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:53905466
    Ig_3; Immunoglobulin domain
    cd00096
    Location:19131915
    Ig; Ig strand A [structural motif]
    cd20967
    Location:17221803
    IgI_C2_MyBP-C-like; Domain C2 of human cardiac Myosin Binding Protein C and similar domains; a member of the I-set of IgSF domains
    cd20971
    Location:69717061
    IgI_1_Titin-A168_like; First immunoglobulin-like domains A168 within the A-band segment of human cardiac titin, and similar domains; a member of the I-set of IgSF domains
    cl11960
    Location:19131994
    Ig; Immunoglobulin domain
  4. NM_052843.4NP_443075.3  obscurin isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript, and encodes the shorter isoform (a).
    Source sequence(s)
    AL353593, AL359510, AL670729
    Consensus CDS
    CCDS1570.2
    UniProtKB/Swiss-Prot
    Q5VST9
    Related
    ENSP00000284548.11, ENST00000284548.16
    Conserved Domains (14) summary
    cd00096
    Location:51435213
    Ig; Immunoglobulin domain
    smart00015
    Location:48724893
    IQ; Calmodulin-binding motif
    smart00408
    Location:61216189
    IGc2; Immunoglobulin C-2 Type
    cd12025
    Location:56025664
    SH3_Obscurin_like; Src homology 3 domain of Obscurin and similar proteins
    smart00409
    Location:28342911
    IG; Immunoglobulin
    smart00410
    Location:248328
    IG_like; Immunoglobulin like
    cd00063
    Location:45234608
    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:1099
    I-set; Immunoglobulin I-set domain
    cd13239
    Location:58826006
    PH_Obscurin; Obscurin pleckstrin homology (PH) domain
    pfam00047
    Location:811872
    ig; Immunoglobulin domain
    pfam00169
    Location:58966000
    PH; PH domain
    pfam13895
    Location:31013181
    Ig_2; Immunoglobulin domain
    cl02571
    Location:56975873
    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:991
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    228208044..228378876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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