KNCN Gene
protein-coding GIFtS: 37
GCID: GC01M047011
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|
kinocilin
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Aliases
for KNCN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kinocilin1 | | L51 2 5 | | KINO1 5 | | FLJ320111 | | Kino2 |
Export aliases for KNCN gene to outside databasesPrevious GC identifers: GC01M046783 GC01M045127 |
Summaries
for KNCN 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: KNCN_HUMAN, A6PVL3Function: May play a role in stabilizing dense microtubular networks or in vesicular trafficking (By similarity)
|
Genomic Views
for KNCN 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_000001.10 NC_018912.1 NT_032977.9
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KNCN gene promoter:
AP-4 Nkx2-5 CBF-C S8 CBF-A CBF-B CP1A CP1C NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for KNCN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KNCN |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p33 Ensembl cytogenetic band: 1p33 HGNC cytogenetic band: 1p33KNCN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M047011: view genomic region
(about GC identifiers)
Start:
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47,011,316 bp from pter |
End:
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47,017,199 bp from pter |
Size:
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5,884 bases |
Orientation:
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minus strand |
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Proteins
for KNCN 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: KNCN_HUMAN, A6PVL3 (See
protein sequence)Recommended Name: Kinocilin Size: 124 amino acids; 12832 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A8MXE3Alternative splicing: 2 isoforms: A6PVL3-1 A6PVL3-2 Explore the universe of human proteins at neXtProt for KNCN: NX_A6PVL3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_A6PVL3
KNCN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001091080.1
ENSEMBL proteins: ENSP00000419705 ENSP00000379607
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
KNCN for ontologies About GeneDecksing
KNCN Antibody Products:
Assay Products for KNCN: |
Protein
Domains /
Families
for KNCN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: A6PVL3 |
Function
for KNCN 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: KNCN_HUMAN, A6PVL3Function: May play a role in stabilizing dense microtubular networks or in vesicular trafficking (By similarity)
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 KNCN (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KNCN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KNCN (NM_001097611) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KNCN | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KNCN |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KNCN |
|
Pathways & Interactions
for KNCN 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 KNCN
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/834 Interacting proteins for KNCN (ENSP000003796074) via UniProtKB, MINT, STRING, and/or I2D (see all 834)About this table
|
Drugs & Compounds
for KNCN 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 KNCN
Search CenterWatch for drugs/clinical trials and news about KNCN
|
Transcripts
for KNCN 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 KNCN gene (2 alternative transcripts): NM_001097611.1 NM_182516.1 Unigene Cluster for KNCN: Kinocilin Hs.350764 [show with all ESTs]Unigene Representative Sequence: NM_0010976114 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000294445(uc001cpy.2 uc009vyh.1) ENST00000524908 ENST00000481882
ENST00000396314
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KNCN (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KNCN
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KNCN (NM_001097611) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KNCN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KNCN |
Additional cDNA sequence: AK056573.1 BC101295.1 BC101296.1 BC101297.2 BC101298.2 1 DOTS entry: DT.95144764 2 AceView cDNA sequences: AK056573 NM_182516
GeneLoc Exon Structure
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Expression
for KNCN 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
| KNCN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCTCCCCAG
About this image
See KNCN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KNCN
SOURCE GeneReport for Unigene cluster: Hs.350764
SABiosciences Custom PCR Arrays for KNCN
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KNCN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KNCN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KNCN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KNCN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KNCN |
Orthologs
for KNCN 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 human and mouse.
Orthologs for KNCN gene from 1/5 species (see all 5) About this table
ENSEMBL Gene Tree for KNCN (if available)
TreeFam Gene Tree for KNCN (if available) |
Paralogs
for KNCN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for KNCN 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 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KNCN (47011316 - 47017199 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KNCN: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KNCN |
|
Disorders
/ Diseases
for KNCN 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
|
KNCN for disorders About GeneDecksing
OMIM gene information: 611455
OMIM disorders: --
1  disease for KNCN: About MalaCardsspondylolysis
Export disorders for KNCN gene to outside databases
|
Publications
for KNCN 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 KNCN gene integrated from 9 sources:
(articles sorted by number of sources associating them with KNCN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Initial characterization of kinocilin, a protein of the hair cell kinocilium. (PubMed id 15855039)1, 3 Leibovici M....Petit C. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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 and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (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 KNCN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing KNCN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KNCN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KNCN 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 KNCN | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KNCN gene:
Search GeneIP for patents involving KNCN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KNCN 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
|
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 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KNCN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KNCN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KNCN | | | OriGene Protein Over-expression Lysate for KNCN | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KNCN | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KNCN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KNCN | | | 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,
variant library, vector shuttling | | | OriGene Custom Antibody Services for KNCN | | OriGene Custom Protein Services for KNCN | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KNCN | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KNCN | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KNCN | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KNCN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KNCN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KNCN |
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 |  |  |  | |
| | | | Search Tocris compounds for KNCN |
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 | | | KNCN Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KNCN |
|  |  |  | | | | Search ThermoFisher Antibodies for KNCN |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KNCN |
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