Format

Send to:

Choose Destination
    • Showing Current items.

    KY kyphoscoliosis peptidase [ Homo sapiens (human) ]

    Gene ID: 339855, updated on 28-Sep-2018

    Summary

    Official Symbol
    KYprovided by HGNC
    Official Full Name
    kyphoscoliosis peptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:26576
    See related
    Ensembl:ENSG00000174611 MIM:605739; Vega:OTTHUMG00000159788
    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

    Genomic context

    Location:
    3q22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (134599923..134656053, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (134318765..134370522, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 4 pseudogene Neighboring gene anaphase promoting complex subunit 13 Neighboring gene centrosomal protein 63 Neighboring gene EPH receptor B1 Neighboring gene RNA, U6 small nuclear 1174, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 141

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ33207

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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
      10009..61131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350859.1NP_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:165345
      CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001350860.1NP_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:139322
      CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
    3. NM_001366276.1NP_001353205.1  kyphoscoliosis peptidase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC109912, AK293840
    4. NM_001366277.1NP_001353206.1  kyphoscoliosis peptidase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC016931, AC109912
    5. NM_178554.5NP_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
      Q8NBH2
      Related
      ENSP00000397598.2, OTTHUMP00000216501, ENST00000423778.6
      Conserved Domains (1) summary
      pfam01841
      Location:170282
      Transglut_core; Transglutaminase-like superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      134599923..134656053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713612.3XP_006713675.1  kyphoscoliosis peptidase isoform X5

      Conserved Domains (1) summary
      pfam01841
      Location:190302
      Transglut_core; Transglutaminase-like superfamily
    2. XM_017006290.1XP_016861779.1  kyphoscoliosis peptidase isoform X4

    3. XM_017006288.1XP_016861777.1  kyphoscoliosis peptidase isoform X2

    4. XM_005247418.3XP_005247475.1  kyphoscoliosis peptidase isoform X3

      Related
      ENSP00000421297.1, OTTHUMP00000216503, ENST00000508956.5, OTTHUMT00000357324
      Conserved Domains (1) summary
      pfam01841
      Location:208320
      Transglut_core; Transglutaminase-like superfamily
    5. XM_017006287.1XP_016861776.1  kyphoscoliosis peptidase isoform X1

    6. XM_024453508.1XP_024309276.1  kyphoscoliosis peptidase isoform X6

      Conserved Domains (1) summary
      COG5279
      Location:201384
      CYK3; Cytokinesis protein 3, contains TGc (transglutaminase/protease-like) domain [Cell cycle control, cell division, chromosome partitioning]
    Support Center