KY Gene
protein-coding GIFtS: 43
GCID: GC03M134318
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kyphoscoliosis peptidase
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Aliases
for KY gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kyphoscoliosis Peptidase1 2 | | FLJ332071 | | EC 3.4.-.-3 |
Export aliases for KY gene to outside databasesPrevious GC identifers: GC03M135644 GC03M135804 GC03M131695 |
Summaries
for KY gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: KY_HUMAN, Q8NBH2Function: Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturationand stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (Bysimilarity)
|
Genomic Views
for KY gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KY gene promoter:
Bach1 AP-1 Tal-1 JunB MyoD MIF-1 E47 c-Myb
Other transcription factors
Search SABiosciences Chromatin IP Primers for KY
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KY |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q22.2 Ensembl cytogenetic band: 3q22.2 HGNC cytogenetic band: 3q22.1KY Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M134318: view genomic region
(about GC identifiers)
Start:
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134,318,765 bp from pter |
End:
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134,370,478 bp from pter |
Size:
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51,714 bases |
Orientation:
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minus strand |
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Proteins
for KY gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KY_HUMAN, Q8NBH2 (See
protein sequence)Recommended Name: Kyphoscoliosis peptidase Size: 561 amino acids; 63855 Da
Subunit: Interacts with IGFN1 and FLNC
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, Z line (By similarity)
Secondary accessions: B7Z1S4 Q6ZT15Alternative splicing: 4 isoforms: Q8NBH2-1 Q8NBH2-2 Q8NBH2-3 Q8NBH2-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for KY: NX_Q8NBH2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NBH2
KY Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_848649.3
ENSEMBL proteins: ENSP00000421297 ENSP00000397598 ENSP00000426777
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
KY for ontologies About GeneDecksing
KY Antibody Products:
Assay Products for KY: |
Protein
Domains /
Families
for KY gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KY for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8NBH2ProtoNet protein and cluster: Q8NBH2 UniProtKB/Swiss-Prot: KY_HUMAN, Q8NBH2Similarity: Belongs to the transglutaminase-like superfamily |
Function
for KY gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KY_HUMAN, Q8NBH2Function: Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturationand stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (Bysimilarity)Enzyme Number (IUBMB): EC 3.4.-.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KY (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KY
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for KY | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KY | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KY |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KY |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008233 | peptidase activity |
IEA | -- |
KY for ontologies About GeneDecksing
Animal Models:
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ky):
KY for phenotypes About GeneDecksing
|
Pathways & Interactions
for KY gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KY
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for KY (Q8NBH23 ENSP000003975984) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006508 | proteolysis |
IEA | -- | | GO:0007517 | muscle organ development |
-- | -- | | GO:0007528 | neuromuscular junction development |
IEA | -- |
KY for ontologies About GeneDecksing
|
Drugs & Compounds
for KY gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KY
Search CenterWatch for drugs/clinical trials and news about KY
|
Transcripts
for KY gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KY gene: NM_178554.4 Unigene Cluster for KY: Kyphoscoliosis peptidase Hs.146730 [show with all ESTs]Unigene Representative Sequence: NM_1785545 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000508956(uc010hty.3 uc011blw.2 uc011blx.2) ENST00000423778
ENST00000503669 ENST00000506319(uc003eqr.1 uc003eqs.1) ENST00000508041
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KY (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KY
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for KY | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KY | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KY |
Additional cDNA sequence: AF086360.1 AK090526.1 AK126993.1 AK293840.1 AK294500.1 BC024014.1 BC037842.2 BC136349.1 8 DOTS entries: DT.430606 DT.99999815 DT.421502 DT.101979700 DT.86843623 DT.95202243 DT.120876683 DT.40115370 18 AceView cDNA sequences: F30423 AW297228 AF086360 NM_178554 AK126993 W75935 AK090526 AX746495 BM768793 BC024014 F35670 BM768817 AI275028 AI567821 BM856161 BG723082 W73871 BI025527
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for KY About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | |
| SP2: | | | - | | | | - | | | | | | | | - | | - | | - | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KY
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Expression
for KY gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KY expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See KY Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KY
SOURCE GeneReport for Unigene cluster: Hs.146730
SABiosciences Custom PCR Arrays for KY
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KY
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KY | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KY | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KY | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KY |
Orthologs
for KY gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KY gene from 6/16 species (see all 16) About this table
ENSEMBL Gene Tree for KY (if available)
TreeFam Gene Tree for KY (if available) |
Paralogs
for KY gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for KY gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KY (134318765 - 134370478 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KY
1 CNV: 50937 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KY |
|
Disorders
/ Diseases
for KY gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KY for disorders About GeneDecksing
OMIM gene information: 605739
OMIM disorders: --
1  disease for KY: About MalaCardsmuscular dystrophy
Human Genome Epidemiology (HuGE) Navigator: KY (303 documents)
Export disorders for KY gene to outside databases
|
Publications
for KY gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KY gene integrated from 9 sources:
(articles sorted by number of sources associating them with KY) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres. (PubMed id 15385448)1, 2 Beatham J....Blanco G. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for KY gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing KY gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KY gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KY gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KY | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KY gene:
Search GeneIP for patents involving KY
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KY gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KY | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KY | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KY | | | OriGene Protein Over-expression Lysate for KY | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KY | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KY | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KY | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KY | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KY | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KY | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KY | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KY | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KY |
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| | | | Search Tocris compounds for KY |
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 | | | KY Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KY |
|  |  |  | | | | ThermoFisher Antibodies for KY |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KY |
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