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KY kyphoscoliosis peptidase [ Homo sapiens (human) ]

Gene ID: 339855, updated on 5-Mar-2024

Summary

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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

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Location:
3q22.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (134599923..134651022, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (137345261..137396375, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (134318765..134369864, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134205013-134205831 Neighboring gene anaphase promoting complex subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20565 Neighboring gene centrosomal protein 63 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134245816-134246316 Neighboring gene DPPA4 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 9743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134338253-134338753 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134361872-134362713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134362971-134363635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134412480-134413158 Neighboring gene RNA, U6 small nuclear 1174, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 141

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A novel homozygous KY variant causing a complex neurological disorder. Arif B, et al. Eur J Med Genet, 2020 Nov. PMID 32818658, Free PMC Article
  2. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. Yogev Y, et al. Eur J Hum Genet, 2017 Aug. PMID 28488683, Free PMC Article
  3. A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. Hedberg-Oldfors C, et al. Eur J Hum Genet, 2016 Dec. PMID 27485408, Free PMC Article
  4. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Straussberg R, et al. Acta Neuropathol, 2016 Sep. PMID 27484770
  5. Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. Beatham J, et al. Hum Mol Genet, 2004 Nov 15. PMID 15385448

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel homozygous KY variant causing a complex neurological disorder.
    Title: A novel homozygous KY variant causing a complex neurological disorder.
  2. 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.
  3. 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.
  4. 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.
  5. KY expression is significantly downregulated in human masticatory mucosa during wound healing
    Title: Human gingiva transcriptome during wound healing.
  6. 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.
Submit: New GeneRIF Correction

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33207

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

  1. NG_054713.1 RefSeqGene

    Range
    10032..61131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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]

  2. 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]

  3. 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]

  4. 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]

  5. 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]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    134599923..134651022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    137345261..137396375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NBH2.3 GenPept UniProtKB/Swiss-Prot:Q8NBH2

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