Human Gene KAZN (ENST00000376030.7_9) from GENCODE V47lift37
  Description: kazrin, periplakin interacting protein, transcript variant E (from RefSeq NM_201628.3)
Gencode Transcript: ENST00000376030.7_9
Gencode Gene: ENSG00000189337.17_17
Transcript (Including UTRs)
   Position: hg19 chr1:14,925,181-15,444,539 Size: 519,359 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr1:14,925,494-15,441,131 Size: 515,638 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:14,925,181-15,444,539)mRNA (may differ from genome)Protein (775 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KAZRN_HUMAN
DESCRIPTION: RecName: Full=Kazrin;
FUNCTION: Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known.
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 plasma mebrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomal plasma membrane. Colocalizes with cortical actin-based membrane structures.
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma mebrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomal plasma membrane. Colocalizes with cortical actin-based membrane structures.
SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma mebrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomal plasma membrane. Colocalizes with cortical actin-based membrane structures.
TISSUE SPECIFICITY: Isoform 2, isoform 3 and isoform 4 are expressed in several cell lines including keratinocytes and bladder and epidermoid carcinoma (at protein level). Isoform 2, isoform 3 and isoform 4 are expressed in hair follicle and interfollicular epidermis (at protein level).
SIMILARITY: Belongs to the kazrin family.
SIMILARITY: Contains 3 SAM (sterile alpha motif) domains.
SEQUENCE CAUTION: Sequence=AAH36877.1; Type=Miscellaneous discrepancy; Note=The cDNA sequence has been translated in the 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;

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 35.46 RPKM in Spleen
Total median expression: 342.71 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -149.70313-0.478 Picture PostScript Text
3' UTR -1276.703408-0.375 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
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR011510 - SAM_2
IPR021129 - SAM_type1

Pfam Domains:
PF00536 - SAM domain (Sterile alpha motif)
PF07647 - SAM domain (Sterile alpha motif)

SCOP Domains:
47769 - SAM/Pointed domain

ModBase Predicted Comparative 3D Structure on Q674X7
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0031424 keratinization
GO:0070268 cornification

Cellular Component:
GO:0001533 cornified envelope
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016607 nuclear speck
GO:0030054 cell junction
GO:0030057 desmosome


-  Descriptions from all associated GenBank mRNAs
  AB028949 - Homo sapiens mRNA for KIAA1026 protein, partial cds.
AY505119 - Homo sapiens kazrin isoform A mRNA, complete cds.
AB384084 - Synthetic construct DNA, clone: pF1KSDA1026, Homo sapiens KIAA1026 gene for kazrin protein, complete cds, without stop codon, in Flexi system.
AY505120 - Homo sapiens kazrin isoform B mRNA, complete cds.
BC035501 - Homo sapiens kazrin, mRNA (cDNA clone MGC:20906 IMAGE:4556194), complete cds.
AY505121 - Homo sapiens kazrin isoform C mRNA, complete cds.
AY505122 - Homo sapiens kazrin isoform D mRNA, complete cds.
CU690090 - Synthetic construct Homo sapiens gateway clone IMAGE:100021941 5' read KIAA1026 mRNA.
KJ893348 - Synthetic construct Homo sapiens clone ccsbBroadEn_02742 KAZN gene, encodes complete protein.
AB015329 - Homo sapiens HRIHFB2003 mRNA, partial cds.
AK293806 - Homo sapiens cDNA FLJ58452 complete cds, weakly similar to Liprin-alpha.
BX648256 - Homo sapiens mRNA; cDNA DKFZp686D08115 (from clone DKFZp686D08115).
AK125794 - Homo sapiens cDNA FLJ43806 fis, clone TESTI4001100.
BC101637 - Homo sapiens kazrin, mRNA (cDNA clone IMAGE:8069143), complete cds.
BC113621 - Homo sapiens kazrin, mRNA (cDNA clone IMAGE:8322673), complete cds.
BC143641 - Homo sapiens kazrin, mRNA (cDNA clone IMAGE:9052155), complete cds.
HQ258111 - Synthetic construct Homo sapiens clone IMAGE:100072420 Unknown protein gene, encodes complete protein.
KJ902311 - Synthetic construct Homo sapiens clone ccsbBroadEn_11705 KAZN gene, encodes complete protein.
AK095631 - Homo sapiens cDNA FLJ38312 fis, clone FCBBF3021506.
AK125388 - Homo sapiens cDNA FLJ43398 fis, clone OCBBF2009836.
AK057155 - Homo sapiens cDNA FLJ32593 fis, clone SPLEN2000479.
AF052120 - Homo sapiens clone 23836 mRNA sequence.
JD133740 - Sequence 114764 from Patent EP1572962.
JD517361 - Sequence 498385 from Patent EP1572962.
JD555000 - Sequence 536024 from Patent EP1572962.
JD255687 - Sequence 236711 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q674X7 (Reactome details) participates in the following event(s):

R-HSA-6814374 Kazrin binds periplakin
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B0QYQ0, B1AJZ1, B1AK78, C1orf196 , ENST00000376030.1, ENST00000376030.2, ENST00000376030.3, ENST00000376030.4, ENST00000376030.5, ENST00000376030.6, HRIHFB2003, KAZ, KAZN , KAZRN_HUMAN, KIAA1026, NM_201628, Q5TGF1, Q674X4, Q674X6, Q674X7, Q6ZUD1, Q8IYN7, Q8N409, Q9UIL2, Q9UPX4, uc318mrj.1, uc318mrj.2
UCSC ID: ENST00000376030.7_9
RefSeq Accession: NM_201628.3
Protein: Q674X7 (aka KAZRN_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.