KPTN Gene
protein-coding GIFtS: 44
GCID: GC19M047978
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kaptin (actin binding protein)(Previous name: kaptin (actin-binding protein) )
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Aliases
for KPTN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kaptin (Actin Binding Protein)1 2 | | 2E41 2 | | Kaptin (Actin-Binding Protein)1 2 | | Actin-Associated Protein 2E42 3 | | Kaptin1 |
Export aliases for KPTN gene to outside databasesPrevious GC identifers: GC19M048625 GC19M048369 GC19M052654 GC19M052670 GC19M052657 GC19M044406 |
Summaries
for KPTN 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: KPTN_HUMAN, Q9Y664Function: May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May playa role in actin rearrangements that accompany platelet activation and stereocilia formation
Gene Wiki entry for KPTN (Kaptin)
|
Genomic Views
for KPTN 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_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KPTN gene promoter:
Max1 AML1a MIF-1 C/EBPalpha GATA-1 CREB NRF-2 HOXA5 deltaCREB c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for KPTN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KPTN |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.32 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.3KPTN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M047978: view genomic region
(about GC identifiers)
Start:
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47,978,400 bp from pter |
End:
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47,987,521 bp from pter |
Size:
|
9,122 bases |
Orientation:
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minus strand |
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Proteins
for KPTN 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: KPTN_HUMAN, Q9Y664 (See
protein sequence)Recommended Name: Kaptin Size: 436 amino acids; 48080 Da
Subunit: Associates with one end of F-actin filaments
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Cell projection, stereocilium. Cell projection, growthcone. Note=Perinuclear at the tips of stereocilium in the inner ear. Localized at sites of actin polymerization inmotile fibroblasts and neuronal growth cones
Sequence caution: Sequence=AAD39358.1; Type=Frameshift; Positions=8, 14, 410, 419;
Secondary accessions: B3KN86 Q96GT1Explore the universe of human proteins at neXtProt for KPTN: NX_Q9Y664
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y664
KPTN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_008990.2
ENSEMBL proteins: ENSP00000337850 ENSP00000442579
Human Recombinant Protein Products for KPTN:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
KPTN for ontologies About GeneDecksing
KPTN Antibody Products:
Assay Products for KPTN: |
Protein
Domains /
Families
for KPTN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9Y664 |
Function
for KPTN gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: KPTN_HUMAN, Q9Y664Function: May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May playa role in actin rearrangements that accompany platelet activation and stereocilia formation 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:0003779 | actin binding |
IEA | -- |
KPTN for ontologies About GeneDecksing
Phenotypes:
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Kptn):
KPTN for phenotypes About GeneDecksing
Animal Models:
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 KPTN (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KPTN
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPTN |
|
Pathways & Interactions
for KPTN 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 KPTN
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
5/6 Interacting proteins for KPTN (Q9Y6643 ENSP000003378504) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
KPTN for ontologies About GeneDecksing
|
Drugs & Compounds
for KPTN 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 KPTN
Search CenterWatch for drugs/clinical trials and news about KPTN
|
Transcripts
for KPTN 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,
Sirion Biotech,
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 KPTN gene: NM_007059.2 Unigene Cluster for KPTN: Kaptin (actin binding protein) Hs.25441 [show with all ESTs]Unigene Representative Sequence: NM_0070592 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000338134(uc002pgy.3 uc010xys.2) ENST00000536339
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KPTN (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KPTN
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KPTN (NM_007059) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KPTN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KPTN |
Additional cDNA sequence: AF105369.1 AK023996.1 AK225419.1 AK298672.1 BC009249.2 7 DOTS entries: DT.412723 DT.95374050 DT.100730098 DT.121497313 DT.95374051 DT.97817091 DT.435399 24/98 AceView cDNA sequences (see all 98): CD251799 AA861996 CR618331 BE502285 BX280638 Z41308 BM760725 BQ960142 AW015625 T17326 CR590339 BG749006 BQ423458 AA580276 BM764293 AI637754 BC009249 BG253326 AI005300 AI591027 BM844920 T08234 BG388698 BM761752
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for KPTN About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 |
|---|
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| SP1: | | | | | | | | | | | | | | | | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | - | | | | - | | - | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | - | | - | | - | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for KPTN
|
Expression
for KPTN 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
| KPTN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCGTGCTCAC
About this image
See KPTN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KPTN
SOURCE GeneReport for Unigene cluster: Hs.25441
SABiosciences Custom PCR Arrays for KPTN
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KPTN
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KPTN | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KPTN | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KPTN | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPTN |
Orthologs
for KPTN 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 KPTN gene from 5/18 species (see all 18) About this table
ENSEMBL Gene Tree for KPTN (if available)
TreeFam Gene Tree for KPTN (if available) |
Paralogs
for KPTN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for KPTN 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 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KPTN (47978400 - 47987521 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KPTN
1 CNV: 4083 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KPTN |
|
Disorders
/ Diseases
for KPTN 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
|
KPTN for disorders About GeneDecksing
3  diseases for KPTN: About MalaCardsisovaleric acidemia hearing loss neuronitis
Export disorders for KPTN gene to outside databases
|
Publications
for KPTN 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 KPTN gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with KPTN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 2E4 (kaptin): a novel actin-associated protein from human blood platelets found in lamellipodia and the tips of the stereocilia of the inner ear. (PubMed id 10099934)1, 2, 3, 9 Bearer E.L. and Abraham M.T. (1999)
- 2E4/Kaptin (KPTN) - a candidate gene for the hearing loss loci, DFNA4. (PubMed id 11409409)1, 2, 9 Bearer E.L....Jackson C.L. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- An actin-associated protein present in the microtubule organizing center and the growth cones of PC-12 cells. (PubMed id 1372044)1, 2 Bearer E.L. (1992)
- Actin dynamics in platelets. (PubMed id 12019562)1, 9 Bearer E.L....Li Z. (2002)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
- 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)
- 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)
|
External Searches for KPTN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KPTN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KPTN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KPTN 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 KPTN | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KPTN gene:
Search GeneIP for patents involving KPTN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KPTN 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KPTN | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KPTN | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KPTN | | | OriGene Protein Over-expression Lysate for KPTN | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KPTN | | OriGene 3'-UTR Clone for KPTN | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KPTN | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KPTN | | | 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 | | | OriGene Purified Protein for KPTN | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPTN |
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