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    KY kyphoscoliosis peptidase [ Homo sapiens (human) ]

    Gene ID: 339855, updated on 10-Dec-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_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_000003.12Genomic 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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
    		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

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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