Human Gene KY (ENST00000423778.7_8) from GENCODE V47lift37
  Description: kyphoscoliosis peptidase, transcript variant 1 (from RefSeq NM_178554.6)
Gencode Transcript: ENST00000423778.7_8
Gencode Gene: ENSG00000174611.12_11
Transcript (Including UTRs)
   Position: hg19 chr3:134,318,765-134,369,864 Size: 51,100 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr3:134,322,421-134,369,802 Size: 47,382 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:134,318,765-134,369,864)mRNA (may differ from genome)Protein (661 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KY_HUMAN
DESCRIPTION: RecName: Full=Kyphoscoliosis peptidase; EC=3.4.-.-;
FUNCTION: Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity).
SUBUNIT: Interacts with IGFN1 and FLNC.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, Z line (By similarity).
SIMILARITY: Belongs to the transglutaminase-like superfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KY
Diseases sorted by gene-association score: myopathy, myofibrillar, 7* (929), neuropathy, hereditary sensory, with spastic paraplegia* (283), spastic paraplegia 7, autosomal recessive* (283), hereditary spastic paraplegia* (283), infantile-onset ascending hereditary spastic paralysis* (283), troyer syndrome* (231), myofibrillar myopathy (6), myopathy (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.75 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 32.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.5062-0.331 Picture PostScript Text
3' UTR -1293.303656-0.354 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002931 - Transglutaminase-like

Pfam Domains:
PF01841 - Transglutaminase-like superfamily

SCOP Domains:
54001 - Cysteine proteinases

ModBase Predicted Comparative 3D Structure on Q8NBH2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008233 peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0030018 Z disc


-  Descriptions from all associated GenBank mRNAs
  AK293840 - Homo sapiens cDNA FLJ50729 complete cds, highly similar to Mus musculus kyphoscoliosis peptidase (Ky), mRNA.
AK090526 - Homo sapiens cDNA FLJ33207 fis, clone ADRGL2007906, highly similar to Mus musculus mRNA for Ky protein.
AX746495 - Sequence 20 from Patent EP1308459.
BC136349 - Homo sapiens cDNA clone IMAGE:9020336.
AK294500 - Homo sapiens cDNA FLJ57485 complete cds, highly similar to Homo sapiens kyphoscoliosis peptidase (KY), mRNA.
AK126993 - Homo sapiens cDNA FLJ45048 fis, clone BRAWH3021724, moderately similar to Mus musculus kyphoscoliosis (Ky).
BC024014 - Homo sapiens kyphoscoliosis peptidase, mRNA (cDNA clone IMAGE:4823170), with apparent retained intron.
BC037842 - Homo sapiens cDNA clone IMAGE:4814672.
AF086360 - Homo sapiens full length insert cDNA clone ZD65E03.
JD059413 - Sequence 40437 from Patent EP1572962.
JD265359 - Sequence 246383 from Patent EP1572962.
JD495637 - Sequence 476661 from Patent EP1572962.
JD448907 - Sequence 429931 from Patent EP1572962.
JD162250 - Sequence 143274 from Patent EP1572962.
JD520046 - Sequence 501070 from Patent EP1572962.
JD437318 - Sequence 418342 from Patent EP1572962.
JD253113 - Sequence 234137 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z1S4, ENST00000423778.1, ENST00000423778.2, ENST00000423778.3, ENST00000423778.4, ENST00000423778.5, ENST00000423778.6, KY , KY_HUMAN, NM_178554, Q6ZT15, Q8NBH2, uc319tbn.1, uc319tbn.2
UCSC ID: ENST00000423778.7_8
RefSeq Accession: NM_178554.6
Protein: Q8NBH2 (aka KY_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.