Ky kyphoscoliosis peptidase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kyprovided by MGI
Official Full Name: kyphoscoliosis peptidaseprovided by MGI
Primary source: MGI:MGI:96709
See related: Ensembl:ENSMUSG00000035606 AllianceGenome:MGI:96709
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: ky; CD1; D9Mgc44e
Summary: Predicted to enable peptidase activity. Acts upstream of or within muscle organ development and neuromuscular junction development. Located in Z disc. Human ortholog(s) of this gene implicated in myofibrillar myopathy 7. Orthologous to human KY (kyphoscoliosis peptidase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 5.4), heart adult (RPKM 3.6) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 54.54 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (102382954..102423443)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (102505755..102546247)

Chromosome 9 - NC_000075.7 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: 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?

expression of the co-chaperone BAG3 and other chaperone-assisted selective autophagy factors was analyzed in the cellular, zebrafish and ky/ky mouse models.
Title: Transcriptional upregulation of Bag3, a chaperone-assisted selective autophagy factor, in animal models of KY-deficient hereditary myopathy.
kyphoscoliosis peptidase (Ky), which plays a vital role in muscle growth, was also up-regulated in the transgenic mice.
Title: RNA sequencing identifies upregulated kyphoscoliosis peptidase and phosphatidic acid signaling pathways in muscle hypertrophy generated by transgenic expression of myostatin propeptide.
The Ky gene was downregulated in CAPN3KO muscles suggesting that Ky protease may play a complementary role in regulating muscle cytoskeleton homeostasis in response to changes in muscle activity.
Title: C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.
KY, IGFN1 and FLNC are part of a Z-band associated protein complex likely to provide structural support to the skeletal muscle sarcomere.
Title: Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1.
KY is an intrinsic part of the protein networks underlying the molecular mechanism of several limb-girdle muscular dystrophies.
Title: Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.
Changes in expression of MLP, MARP2 and Xin have been related to the onset of dystrophic and adaptive changes that operate in ky/ky muscles
Title: Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.
The Ky protein has a putative key function in muscle development and has homologues in invertebrates, fungi and a cyanobacterium.
Title: Cloning and developmental expression analysis of ltd-1, the Caenorhabditis elegans homologue of the mouse kyphoscoliosis (ky) gene.

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Variation

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Alleles

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

Spontaneous (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

D9Mgc34 (e-PCR), detects polymorphism
- UniSTS:142775

D9Mgc35 (e-PCR), detects polymorphism
- UniSTS:142776

D9Mgc44e (e-PCR), detects polymorphism
- UniSTS:142786

D9Mgc46e (e-PCR), detects polymorphism
- UniSTS:142788

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in muscle organ development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: kyphoscoliosis peptidase

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_024291.4 → NP_077253.3 kyphoscoliosis peptidase

See identical proteins and their annotated locations for NP_077253.3

Status: VALIDATED

Source sequence(s)

AL450317

Consensus CDS

CCDS23445.1

UniProtKB/Swiss-Prot

Q8C8H8, Q9EPK9

UniProtKB/TrEMBL

F8VQF8

Related

ENSMUSP00000036032.5, ENSMUST00000039390.6

Conserved Domains (1) summary

smart00460
Location:217 → 285

TGc; Transglutaminase/protease-like homologues

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_000075.7 Reference GRCm39 C57BL/6J

Range

102382954..102423443

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511647.2 → XP_006511710.1 kyphoscoliosis peptidase isoform X1

Conserved Domains (1) summary

COG5279
Location:182 → 364

CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]