KY kyphoscoliosis peptidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: KYprovided by HGNC
Official Full Name: kyphoscoliosis peptidaseprovided by HGNC
Primary source: HGNC:HGNC:26576
See related: Ensembl:ENSG00000174611 MIM:605739; AllianceGenome:HGNC:26576
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: MFM7
Summary: The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]
Expression: Biased expression in skin (RPKM 2.4), prostate (RPKM 1.2) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (134599923..134651022, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (137345261..137396375, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (134318765..134369864, complement)

Chromosome 3 - NC_000003.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel homozygous KY variant causing a complex neurological disorder.
Title: A novel homozygous KY variant causing a complex neurological disorder.
This study shown Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects in two bother.
Title: Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
Homozygous KY mutation was identified as a cause of progressive hereditary spastic paraplegia. High KY transcript levels were demonstrated in muscular organs and lower expression in the CNS.
Title: Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Homozygous c.1071delG, p.(Thr358Leufs*3) variant of KY causes neuromuscular disorder by introducing a premature stop codon.
Title: A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
KY expression is significantly downregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myofibrillar myopathy 7 MedGen: C4310711 OMIM: 617114 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-112333 (e-PCR)
- UniSTS:168538

SHGC-77924 (e-PCR)
- UniSTS:96166

SHGC-83837 (e-PCR)
- UniSTS:101816

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
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.

Genomic

NG_054713.1 RefSeqGene

Range

10032..61131

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350859.2 → NP_001337788.1 kyphoscoliosis peptidase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC016931, AC109912

Conserved Domains (1) summary

COG5279
Location:165 → 345

CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
NM_001350860.2 → NP_001337789.1 kyphoscoliosis peptidase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC016931, AC109912

Conserved Domains (1) summary

COG5279
Location:139 → 322

CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
NM_001366276.1 → NP_001353205.1 kyphoscoliosis peptidase isoform 4

Status: REVIEWED

Source sequence(s)

AC109912, AK293840

Consensus CDS

CCDS93393.1

Related

ENSP00000421297.1, ENST00000508956.5

Conserved Domains (1) summary

COG5279
Location:160 → 340

CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
NM_001366277.2 → NP_001353206.1 kyphoscoliosis peptidase isoform 5

Status: REVIEWED

Source sequence(s)

AC016931, AC109912

Conserved Domains (1) summary

COG5279
Location:181 → 364

CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
NM_178554.6 → NP_848649.3 kyphoscoliosis peptidase isoform 1

See identical proteins and their annotated locations for NP_848649.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1)

Source sequence(s)

AC016931, AC109912

Consensus CDS

CCDS46920.1

UniProtKB/Swiss-Prot

B7Z1S4, Q6ZT15, Q8NBH2

Related

ENSP00000397598.2, ENST00000423778.7

Conserved Domains (1) summary

COG5279
Location:181 → 361

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