Mkln1 muskelin 1, intracellular mediator containing kelch motifs [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mkln1provided by MGI
Official Full Name: muskelin 1, intracellular mediator containing kelch motifsprovided by MGI
Primary source: MGI:MGI:1351638
See related: Ensembl:ENSMUSG00000025609 AllianceGenome:MGI:1351638
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: A130067F06Rik
Summary: Enables identical protein binding activity. Involved in several processes, including cell-matrix adhesion; neurotransmitter receptor transport postsynaptic membrane to endosome; and regulation of cell shape. Located in several cellular components, including cell cortex; nucleoplasm; and ruffle. Is active in GABA-ergic synapse; postsynaptic endosome membrane; and postsynaptic specialization membrane of symmetric synapse. Is expressed in several structures, including alimentary system; heart; limb; nervous system; and sensory organ epithelium. Orthologous to human MKLN1 (muskelin 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 7.6), bladder adult (RPKM 7.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.3; 6 12.57 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (31333833..31493744)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (31398828..31516809)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
Title: Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
The first crystal structure of mouse muskelin discoidin domain (MK-DD) is reported at 1.55 A resolution, which reveals a distorted eight-stranded beta-barrel with two short alpha-helices at one end of the barrel.
Title: Structure of mouse muskelin discoidin domain and biochemical characterization of its self-association.
This novel interaction between TBX20b and MKLN1 may help elucidate new regulatory mechanisms within heart development.
Title: Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor.
Muskelin regulates retrograde actin filament and microtubule-dependent GABA-A receptor trafficking.
Title: Muskelin regulates actin filament- and microtubule-based GABA(A) receptor transport in neurons.
These novel findings identify a role for muskelin-RanBP9 complex in pathways that integrate cell morphology regulation and nucleocytoplasmic communication.
Title: Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation.
expression of muskelin during embryonic development in muscle tissues, multiple epithelia & brain; findings show PKC activation or inhibition regulates the profile of endogenous muskelin isoelectric variants; muskelin is a substrate for PKCalpha in vitro
Title: Regulation of post-translational modifications of muskelin by protein kinase C.
Muskelin represents a multifunctional protein associated with membranes and/or large protein complexes in most neurons of the central nervous system.
Title: Neuronal expression of muskelin in the rodent central nervous system.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Mit406.2 (e-PCR), detects polymorphism
- UniSTS:130562

D4Rat23 (e-PCR)
- UniSTS:118824

BB154892 (e-PCR)
- UniSTS:185660

AU015903 (e-PCR)
- UniSTS:207934

02.MHAa56e2.seq (e-PCR)
- UniSTS:122686

AU047206 (e-PCR)
- UniSTS:110736

RH128619 (e-PCR)
- UniSTS:211927

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter receptor transport postsynaptic membrane to endosome	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter receptor transport postsynaptic membrane to endosome	IEP Inferred from Expression Pattern more info	PubMed
involved_in neurotransmitter receptor transport postsynaptic membrane to endosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle-mediated transport in synapse	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle-mediated transport in synapse	IEP Inferred from Expression Pattern more info	PubMed
involved_in vesicle-mediated transport in synapse	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in GABA-ergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in GABA-ergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization membrane of symmetric synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization membrane of symmetric synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: muskelin

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.

mRNA and Protein(s)

NM_001429318.1 → NP_001416247.1 muskelin isoform 2

Status: VALIDATED

Source sequence(s)

AC132305, AC153837, AC158658
NM_001429319.1 → NP_001416248.1 muskelin isoform 3

Status: VALIDATED

Source sequence(s)

AC132305, AC153837, AC158658
NM_001429320.1 → NP_001416249.1 muskelin isoform 4

Status: VALIDATED

Source sequence(s)

AC132305, AC153837, AC158658
NM_001429321.1 → NP_001416250.1 muskelin isoform 5

Status: VALIDATED

Source sequence(s)

AC132305, AC153837, AC158658
NM_001429322.1 → NP_001416251.1 muskelin isoform 6

Status: VALIDATED

Source sequence(s)

AC024913, AC132305, AC153837, AC158658
NM_001429323.1 → NP_001416252.1 muskelin isoform 7

Status: VALIDATED

Source sequence(s)

AC024913, AC132305, AC153837, AC158658
NM_013791.3 → NP_038819.1 muskelin isoform 1

See identical proteins and their annotated locations for NP_038819.1

Status: VALIDATED

Source sequence(s)

AC132305, AC153837, AC158658

Consensus CDS

CCDS19982.1

UniProtKB/Swiss-Prot

O89050

Related

ENSMUSP00000026699.9, ENSMUST00000026699.15

Conserved Domains (5) summary

smart00668
Location:206 → 258

CTLH; C-terminal to LisH motif

PLN02153
Location:307 → 475

PLN02153; epithiospecifier protein

sd00038
Location:271 → 323

Kelch; KELCH repeat [structural motif]

pfam06588
Location:12 → 207

Muskelin_N; Muskelin N-terminus

pfam13415
Location:282 → 334

Kelch_3; Galactose oxidase, central domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

31333833..31493744

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036166200.1 → XP_036022093.1 muskelin isoform X1

Conserved Domains (5) summary

smart00668
Location:178 → 230

CTLH; C-terminal to LisH motif

PLN02153
Location:279 → 447

PLN02153; epithiospecifier protein

sd00038
Location:243 → 295

Kelch; KELCH repeat [structural motif]

pfam06588
Location:6 → 179

Muskelin_N; Muskelin N-terminus

pfam13415
Location:254 → 306

Kelch_3; Galactose oxidase, central domain
XM_017321605.3 → XP_017177094.1 muskelin isoform X2

Conserved Domains (3) summary

PLN02153
Location:100 → 268

PLN02153; epithiospecifier protein

sd00038
Location:64 → 116

Kelch; KELCH repeat [structural motif]

pfam13415
Location:75 → 127

Kelch_3; Galactose oxidase, central domain
XM_030255437.1 → XP_030111297.1 muskelin isoform X3

Conserved Domains (2) summary

PLN02153
Location:9 → 145

PLN02153; epithiospecifier protein

sd00038
Location:57 → 123

Kelch; KELCH repeat [structural motif]
XM_036166201.1 → XP_036022094.1 muskelin isoform X3

Conserved Domains (2) summary

PLN02153
Location:9 → 145

PLN02153; epithiospecifier protein

sd00038
Location:57 → 123

Kelch; KELCH repeat [structural motif]