KAZN Gene
protein-coding GIFtS: 41
GCID: GC01P014927
|
|
kazrin, periplakin interacting protein
| |
Aliases
for KAZN gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kazrin, Periplakin Interacting Protein1 2 | | KIAA10261 3 | | KAZ2 3 | | FLJ438061 | | KAZRIN1 | | Kazrin1 |
Export aliases for KAZN gene to outside databases |
Summaries
for KAZN gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KAZN:
This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, andepidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. Ingeneral, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Someisoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcriptvariants encoding distinct isoforms. Additional splice variants have been described but their biological validity hasnot been verified. (provided by RefSeq, Aug 2011)
UniProtKB/Swiss-Prot: KAZRN_HUMAN, Q674X7Function: Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherensjunctions and desmosomes. The function in the nucleus is not known
|
Genomic Views
for KAZN 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_004610.19
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for KAZN
Other transcription factors
Search SABiosciences Chromatin IP Primers for KAZN
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KAZN |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.21 Ensembl cytogenetic band: 1p36.21 HGNC cytogenetic band: 1p36.21KAZN 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 GC01P014927: view genomic region
(about GC identifiers)
Start:
|
14,925,200 bp from pter |
End:
|
15,444,544 bp from pter |
Size:
|
519,345 bases |
Orientation:
|
plus strand |
|
Proteins
for KAZN 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: KAZRN_HUMAN, Q674X7 (See
protein sequence)Recommended Name: Kazrin Size: 775 amino acids; 86351 Da
Subunit: Isoform 2, isoform 3 and isoform 4 interact with PPL N-terminus
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Subcellular location: Isoform 2: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasmamebrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomalplasma membrane. Colocalizes with cortical actin-based membrane structures
Subcellular location: Isoform 3: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasmamebrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomalplasma membrane. Colocalizes with cortical actin-based membrane structures
Subcellular location: Isoform 4: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasmamebrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomalplasma membrane. Colocalizes with cortical actin-based membrane structures
Sequence caution: Sequence=AAH36877.1; Type=Miscellaneous discrepancy; Note=The cDNA sequence has been translated inthe reverse direction; Sequence=AAI01638.1; Type=Erroneous initiation; Sequence=AAI13622.1; Type=Erroneous initiation;Sequence=BAA82978.1; Type=Erroneous initiation; Sequence=BAA88115.1; Type=Frameshift; Positions=348;Sequence=BAC86294.1; Type=Erroneous initiation;
Secondary accessions: B0QYQ0 B1AK78 Q5TGF1 Q674X4 Q674X6 Q6ZUD1 Q8IYN7 Q8N409 Q9UIL2 Q9UPX4Alternative splicing: 5 isoforms: Q674X7-1 Q674X7-2 Q674X7-3 Q674X7-4 Q674X7-5 Explore the universe of human proteins at neXtProt for KAZN: NX_Q674X7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q674X7
KAZN Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001017999.1 NP_001018000.1 NP_001018001.1 NP_056024.1 NP_963922.2
ENSEMBL proteins: ENSP00000365198 ENSP00000426015 ENSP00000354727 ENSP00000365196 ENSP00000383601 ENSP00000391728 ENSP00000383602
Human Recombinant Protein Products for KAZN:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
KAZN for ontologies About GeneDecksing
KAZN Antibody Products:
Assay Products for KAZN: |
Protein
Domains /
Families
for KAZN gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KAZN for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q674X7ProtoNet protein and cluster: Q674X7 UniProtKB/Swiss-Prot: KAZRN_HUMAN, Q674X7Similarity: Belongs to the kazrin familySimilarity: Contains 3 SAM (sterile alpha motif) domains |
Function
for KAZN 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: KAZRN_HUMAN, Q674X7Function: Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherensjunctions and desmosomes. The function in the nucleus is not knownPhenotypes:
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Kazn):
KAZN 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 KAZN (see all 9)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KAZN (see all 6)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): KAZN (NM_015209) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KAZN | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KAZN |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAZN |
|
Pathways & Interactions
for KAZN 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 KAZN
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/6 Interacting proteins for KAZN (Q674X73 ENSP000003651984) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0031424 | keratinization |
IEA | -- |
KAZN for ontologies About GeneDecksing
|
Drugs & Compounds
for KAZN 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 KAZN
Search CenterWatch for drugs/clinical trials and news about KAZN / KAZRN
|
Transcripts
for KAZN 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 KAZN gene (5 alternative transcripts): NM_001017999.2 NM_001018000.3 NM_001018001.2 NM_015209.2 NM_201628.2 Unigene Cluster for KAZN: Kazrin, periplakin interacting protein Hs.368823 [show with all ESTs]Unigene Representative Sequence: NM_2016289 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000376030(uc001avm.4) ENST00000491547 ENST00000503743 ENST00000361144(uc001avo.2)
ENST00000376028 ENST00000400797 ENST00000469734(uc001avs.4) ENST00000422387(uc009vog.1)
ENST00000400798(uc001avp.2 uc001avq.2 uc001avr.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KAZN (see all 9)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KAZN (see all 6)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): KAZN (NM_015209) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KAZN | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KAZN |
Additional cDNA sequence: AB015329.1 AF052120.1 AK057155.1 AK125388.1 AK125794.1 AK293806.1 AY505119.1 AY505120.1 AY505121.1 AY505122.1 BC035501.2 BC101637.1 BC113621.1 BC143641.1 BX648256.1 12 DOTS entries: DT.95369491 DT.112045 DT.100752482 DT.116337 DT.95283045 DT.121096155 DT.99999827 DT.100752483 DT.92423515 DT.97802764 DT.121356922 DT.97789981 24/176 AceView cDNA sequences (see all 176): AI631160 BI915038 BC035501 BC036877 R63407 BM452141 BE646144 BQ576056 BU728157 Z40446 CA307318 BE858189 T17428 BE392969 CD369334 T08427 T33625 BM983112 AI376988 AY505122 BM820318 AA905515 AI621187 BF061576
GeneLoc Exon Structure
|
Expression
for KAZN 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
| KAZN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATGCAAATA
About this image
See KAZN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KAZN
SOURCE GeneReport for Unigene cluster: Hs.368823
UniProtKB/Swiss-Prot: KAZRN_HUMAN, Q674X7Tissue specificity: Isoform 2, isoform 3 and isoform 4 are expressed in several cell lines including keratinocytes andbladder and epidermoid carcinoma (at protein level). Isoform 2, isoform 3 and isoform 4 are expressed in hair follicleand interfollicular epidermis (at protein level)
SABiosciences Custom PCR Arrays for KAZN
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KAZN
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAZN |
Orthologs
for KAZN 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 KAZN gene from 4/18 species (see all 18) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
KAZN6 |
Uncharacterized protein |
68(a) |
1 ↔ 1 |
21(5037519-5054002) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.17782 |
Xenopus laevis transcribed sequence with weak similarity more |
76.55(n) |
|
BI314816.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
kazna1 |
similar to mKIAA1026 protein |
65.28(n)
66.08(a) |
|
100003663 NM_001128289.1 NP_001121761.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Liprin-gamma1 |
CG11206-PA |
50.81(n)
40.07(a) |
|
37552 NM_001103944.1 NP_001097414.1 |
ENSEMBL Gene Tree for KAZN (if available)
TreeFam Gene Tree for KAZN (if available) |
Paralogs
for KAZN gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KAZN gene
- PPFIA22 PPFIBP12 PPFIA42 PPFIA32 PPFIA12 PPFIBP22
2 SIMAP similar genes for KAZN using alignment to 2 protein entries: KAZRN_HUMAN (see all proteins):KIAA1026 PPFIA2
KAZN for paralogs About GeneDecksing
|
Genomic Variants
for KAZN 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 KAZN (14925200 - 15175200 bp, first 250kb of KAZN)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KAZN: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KAZN |
|
Disorders
/ Diseases
for KAZN 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
|
KAZN for disorders About GeneDecksing
2  diseases for KAZN: About MalaCardsataxia carcinoma
Export disorders for KAZN gene to outside databases
|
Publications
for KAZN 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 KAZN gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with KAZN) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane. (PubMed id 15337775)1, 2, 3, 9 Groot K.R.... Watt F.M. (2004)
- Kazrin regulates keratinocyte cytoskeletal networks, intercellular junctions and differentiation. (PubMed id 18840647)1, 3, 9 Sevilla L.M....Watt F.M. (2008)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
- KazrinE is a desmosome-associated liprin that colocal ises with acetylated microtubules. (PubMed id 19843585)1, 9 Nachat R....Watt F.M. (2009)
- Kazrin F is involved in apoptosis and interacts with BAX and ARC. (PubMed id 19727525)1, 9 Wang Q....Tang H. (2009)
- Exons 5-15 of kazrin are dispensable for murine epider mal morphogenesis and homeostasis. (PubMed id 22513779)1 Chhatriwala M.K....Watt F.M. (2012)
- Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
|
External Searches for KAZN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KAZN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KAZN gene
(According to HUGE)
About This Section
| |
Specialized Databases showing KAZN 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
|
|
About This Section
| Patent Information for KAZN gene:
Search GeneIP for patents involving KAZN
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KAZN 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
|
 | |
 | |
 |
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| |  |  |  |  | | | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KAZN |
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