obscna obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: obscnaprovided by ZNC
Official Full Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040812-4
See related: AllianceGenome:ZFIN:ZDB-GENE-040812-4
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: obscn
Summary: Predicted to enable protein kinase activity. Predicted to act upstream of or within muscle organ development. Located in Z disc. Is expressed in central nervous system; heart; skeletal muscle; and skeletal muscle cell. Orthologous to human OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 8

Exon count:: 84

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	8	NC_007119.7 (18367905..18446355, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	8	NC_007119.6 (18333277..18388541, complement)

Chromosome 8 - NC_007119.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

obscurin participates in organizing the internal structure of the myocyte and translating those structural cues to surrounding cells and tissues.
Title: Obscurin depletion impairs organization of skeletal muscle in developing zebrafish embryos.
This is the first demonstration of the importance of the obscurin A-mediated RhoGEF signaling in vertebrate organogenesis and highlights the central role of obscurin A in striated muscle and neural development.
Title: Targeted deletion of the zebrafish obscurin A RhoGEF domain affects heart, skeletal muscle and brain development.
diminished capacity to generate and organize new myofibrils in response to obscurin depletion suggests that it may have a vital role in the causation of or adaptation to cardiac and skeletal myopathies
Title: Obscurin is required for the lateral alignment of striated myofibrils in zebrafish.

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General gene information

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Markers

fc43a01.x1 (e-PCR)
- UniSTS:188157

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle organ development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Z disc	IBA Inferred from Biological aspect of Ancestor more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: obscurin

Names: obscurin-MLCK

XP_017212927.2

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007119.7 Reference GRCz11 Primary Assembly

Range

18367905..18446355 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017357438.3 → XP_017212927.2 obscurin

UniProtKB/TrEMBL

A0A8M6Z870

Conserved Domains (9) summary

smart00409
Location:1083 → 1160

IG; Immunoglobulin

smart00410
Location:2151 → 2228

IG_like; Immunoglobulin like

pfam07679
Location:5282 → 5371

I-set; Immunoglobulin I-set domain

cd13239
Location:4881 → 5005

PH_Obscurin; Obscurin pleckstrin homology (PH) domain

cd14107
Location:5393 → 5649

STKc_obscurin_rpt1; Catalytic kinase domain, first repeat, of the Giant Serine/Threonine Kinase Obscurin

cd14110
Location:6397 → 6660

STKc_obscurin_rpt2; Catalytic kinase domain, second repeat, of the Giant Serine/Threonine Kinase Obscurin

cl02571
Location:4698 → 4848

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.

cl17036
Location:4599 → 4661

SH3; Src Homology 3 domain superfamily

cl28434
Location:4357 → 4432

I-set; Immunoglobulin I-set domain