This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associ... See more...

Aliases for KAZN Gene

Aliases for KAZN Gene

  • Kazrin, Periplakin Interacting Protein 2 3 5
  • Kazrin 3 4
  • KAZ 3 4
  • Chromosome 1 Open Reading Frame 196 2
  • C1orf196 3
  • KIAA1026 4

External Ids for KAZN Gene

Previous HGNC Symbols for KAZN Gene

  • C1orf196

Previous GeneCards Identifiers for KAZN Gene

  • GC01P014927

Summaries for KAZN Gene

Entrez Gene Summary for KAZN Gene

  • This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]

GeneCards Summary for KAZN Gene

KAZN (Kazrin, Periplakin Interacting Protein) is a Protein Coding gene. Among its related pathways are Developmental Biology and Keratinization.

UniProtKB/Swiss-Prot Summary for KAZN Gene

  • 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.

Additional gene information for KAZN Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KAZN Gene

Genomics for KAZN Gene

GeneHancer (GH) Regulatory Elements for KAZN Gene

Promoters and enhancers for KAZN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J014597 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 760.6 +707.2 707222 5.4 ZNF785 CTCF ZBTB6 RELA POU5F1 SP1 MLLT1 SP7 ZSCAN21 CREM KAZN lnc-CASP9-8 piR-34946-001
GH01J013829 Promoter/Enhancer 0.9 EPDnew ENCODE 750.2 -63.8 -63765 0.2 CTCF RAD21 ZNF680 REST TRIM22 CTBP1 EHMT2 ELF1 ZNF143 ETV4 HSALNG0001000 KAZN KR153194-003
GH01J013892 Promoter 0.6 Ensembl 750.6 +0.4 408 1.2 ZIC2 ZFX ZBTB20 ZBTB48 ZNF335 KAZN piR-48209-019
GH01J014626 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 12.2 +734.1 734109 4.6 PKNOX1 ZIC2 TCF7L2 PRDM10 ZNF629 POLR2A ZNF692 EZH2 ZBTB48 ZKSCAN1 KAZN piR-55985-004 piR-34946-001
GH01J014615 Enhancer 0.4 Ensembl 12.2 +723.4 723409 1.6 NRF1 CEBPG CEBPB KAZN piR-34946-001 piR-55985-004
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KAZN on UCSC Golden Path with GeneCards custom track

Genomic Locations for KAZN Gene

Genomic Locations for KAZN Gene
chr1:13,892,792-15,118,048
(GRCh38/hg38)
Size:
1,225,257 bases
Orientation:
Plus strand
chr1:14,925,200-15,444,544
(GRCh37/hg19)
Size:
519,345 bases
Orientation:
Plus strand

Genomic View for KAZN Gene

Genes around KAZN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KAZN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KAZN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAZN Gene

Proteins for KAZN Gene

  • Protein details for KAZN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q674X7-KAZRN_HUMAN
    Recommended name:
    Kazrin
    Protein Accession:
    Q674X7
    Secondary Accessions:
    • B0QYQ0
    • B1AK78
    • Q5TGF1
    • Q674X4
    • Q674X6
    • Q6ZUD1
    • Q8IYN7
    • Q8N409
    • Q9UIL2
    • Q9UPX4

    Protein attributes for KAZN Gene

    Size:
    775 amino acids
    Molecular mass:
    86351 Da
    Quaternary structure:
    • Isoform 2, isoform 3 and isoform 4 interact with PPL N-terminus.
    SequenceCaution:
    • Sequence=AAH36877.1; Type=Miscellaneous discrepancy; Note=The cDNA sequence has been translated in the reverse direction.; Evidence={ECO:0000305}; Sequence=AAI01638.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI13622.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA82978.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA88115.1; Type=Frameshift; Positions=348; Evidence={ECO:0000305}; Sequence=BAC86294.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KAZN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KAZN Gene

Post-translational modifications for KAZN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KAZN Gene

Domains & Families for KAZN Gene

Gene Families for KAZN Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KAZN Gene

Suggested Antigen Peptide Sequences for KAZN Gene

GenScript: Design optimal peptide antigens:
  • KIAA1026 protein (B7ZL87_HUMAN)
  • Kazrin (KAZRN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q674X7

UniProtKB/Swiss-Prot:

KAZRN_HUMAN :
  • Belongs to the kazrin family.
Family:
  • Belongs to the kazrin family.
genes like me logo Genes that share domains with KAZN: view

Function for KAZN Gene

Molecular function for KAZN Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for KAZN Gene

Gene Ontology (GO) - Molecular Function for KAZN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KAZN: view
genes like me logo Genes that share phenotypes with KAZN: view

Animal Models for KAZN Gene

MGI Knock Outs for KAZN:
  • Kazn Kazn<tm1a(EUCOMM)Wtsi>
  • Kazn Kazn<tm1d(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAZN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KAZN Gene

Localization for KAZN Gene

Subcellular locations from UniProtKB/Swiss-Prot for KAZN Gene

Cytoplasm, cytoskeleton.
Isoform 2: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma membrane 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.
Isoform 3: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma membrane 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.
Isoform 4: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma membrane 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 locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KAZN gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KAZN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 15337775
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KAZN: view

Pathways & Interactions for KAZN Gene

PathCards logo

SuperPathways for KAZN Gene

genes like me logo Genes that share pathways with KAZN: view

Pathways by source for KAZN Gene

Gene Ontology (GO) - Biological Process for KAZN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031424 keratinization IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KAZN: view

No data available for SIGNOR curated interactions for KAZN Gene

Drugs & Compounds for KAZN Gene

No Compound Related Data Available

Transcripts for KAZN Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KAZN

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KAZN Gene

No ASD Table

Relevant External Links for KAZN Gene

GeneLoc Exon Structure for
KAZN
ECgene alternative splicing isoforms for
KAZN

Expression for KAZN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KAZN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KAZN Gene

This gene is overexpressed in Spleen (x4.7), Brain - Cerebellar Hemisphere (x4.3), and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for KAZN Gene

This gene is overexpressed in Urine (26.4) and Amniocyte (25.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KAZN Gene



NURSA nuclear receptor signaling pathways regulating expression of KAZN Gene:

KAZN

SOURCE GeneReport for Unigene cluster for KAZN Gene:

Hs.368823

mRNA Expression by UniProt/SwissProt for KAZN Gene:

Q674X7-KAZRN_HUMAN
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).

Evidence on tissue expression from TISSUES for KAZN Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with KAZN: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KAZN Gene

Orthologs for KAZN Gene

This gene was present in the common ancestor of animals.

Orthologs for KAZN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KAZN 33 32
  • 99.66 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAZN 33
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KAZN 33 32
  • 93.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KAZN 33 32
  • 93.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kazn 17 33 32
  • 89.71 (n)
rat
(Rattus norvegicus)
Mammalia Kazn 32
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia KAZN 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves KAZN 33
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kazn 32
  • 73.08 (n)
Str.17695 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.1778 32
zebrafish
(Danio rerio)
Actinopterygii KAZN (1 of 3) 33
  • 72 (a)
OneToMany
KAZN (3 of 3) 33
  • 67 (a)
OneToMany
si:dkey-159f12.3 32
  • 64.62 (n)
KAZN (2 of 3) 33
  • 60 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007137 32
  • 56.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta Liprin-gamma 33 32
  • 55.79 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5992 33
  • 39 (a)
OneToOne
Species where no ortholog for KAZN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KAZN Gene

ENSEMBL:
Gene Tree for KAZN (if available)
TreeFam:
Gene Tree for KAZN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KAZN: view image

Paralogs for KAZN Gene

(2) SIMAP similar genes for KAZN Gene using alignment to 2 proteins:

  • KAZRN_HUMAN
  • B0QYQ6_HUMAN
genes like me logo Genes that share paralogs with KAZN: view

No data available for Paralogs for KAZN Gene

Variants for KAZN Gene

Sequence variations from dbSNP and Humsavar for KAZN Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000001536 -- 14,879,948(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000001765 -- 14,498,689(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000005974 -- 14,666,155(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000008911 -- 14,660,499(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000010694 -- 13,977,761(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KAZN Gene

Variant ID Type Subtype PubMed ID
dgv17e212 CNV loss 25503493
dgv35n100 CNV gain 25217958
dgv45n106 CNV deletion 24896259
dgv8e201 CNV deletion 23290073
dgv9e214 CNV loss 21293372
esv1011013 CNV deletion 20482838
esv1186245 CNV insertion 17803354
esv1214811 CNV insertion 17803354
esv1497348 CNV insertion 17803354
esv1748933 CNV deletion 17803354
esv22036 CNV loss 19812545
esv2313486 CNV deletion 18987734
esv23718 CNV loss 19812545
esv2618588 CNV deletion 19546169
esv2637393 CNV insertion 19546169
esv2656721 CNV deletion 23128226
esv2670554 CNV deletion 23128226
esv2676425 CNV deletion 23128226
esv2678969 CNV deletion 23128226
esv2744119 CNV deletion 23290073
esv2744142 CNV deletion 23290073
esv2744164 CNV deletion 23290073
esv2744175 CNV deletion 23290073
esv2744186 CNV deletion 23290073
esv2744197 CNV deletion 23290073
esv2744208 CNV deletion 23290073
esv2744219 CNV deletion 23290073
esv2744230 CNV deletion 23290073
esv2744241 CNV deletion 23290073
esv2744253 CNV deletion 23290073
esv2744264 CNV deletion 23290073
esv2744275 CNV deletion 23290073
esv2744286 CNV deletion 23290073
esv2761573 CNV gain 21179565
esv27978 CNV loss 19812545
esv3348016 CNV insertion 20981092
esv3548788 CNV deletion 23714750
esv3577746 CNV loss 25503493
esv3585288 CNV loss 21293372
esv3585289 CNV loss 21293372
esv3585290 CNV loss 21293372
esv3585292 CNV loss 21293372
esv3585293 CNV loss 21293372
esv3585296 CNV gain 21293372
esv3585297 CNV loss 21293372
esv3585298 CNV loss 21293372
esv3585299 CNV loss 21293372
esv3585300 CNV loss 21293372
esv3585301 CNV gain 21293372
esv8986 CNV gain 19470904
nsv1001770 CNV loss 25217958
nsv1008761 CNV gain 25217958
nsv1075209 CNV deletion 25765185
nsv1077104 CNV deletion 25765185
nsv1077107 CNV deletion 25765185
nsv1133813 CNV deletion 24896259
nsv1137732 CNV deletion 24896259
nsv3298 CNV insertion 18451855
nsv441681 CNV loss 18776908
nsv460506 CNV loss 19166990
nsv470697 CNV gain 18288195
nsv473059 CNV novel sequence insertion 20440878
nsv475615 CNV novel sequence insertion 20440878
nsv476853 CNV novel sequence insertion 20440878
nsv478373 CNV novel sequence insertion 20440878
nsv508913 CNV insertion 20534489
nsv517844 CNV loss 19592680
nsv520075 CNV loss 19592680
nsv521566 CNV gain 19592680
nsv527648 CNV loss 19592680
nsv545588 CNV loss 21841781
nsv545589 CNV loss 21841781
nsv545590 CNV loss 21841781
nsv545591 CNV loss 21841781
nsv545592 CNV loss 21841781
nsv820102 CNV gain 19587683
nsv833314 CNV loss 17160897
nsv833425 CNV gain 17160897

Variation tolerance for KAZN Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.74; 94.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KAZN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KAZN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KAZN Gene

Disorders for KAZN Gene

Additional Disease Information for KAZN

No disorders were found for KAZN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KAZN Gene

Publications for KAZN Gene

  1. Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane. (PMID: 15337775) Groot KR … Watt FM (The Journal of cell biology 2004) 2 3 4 23 56
  2. Kazrin regulates keratinocyte cytoskeletal networks, intercellular junctions and differentiation. (PMID: 18840647) Sevilla LM … Watt FM (Journal of cell science 2008) 2 3 23 56
  3. Kazrin F is involved in apoptosis and interacts with BAX and ARC. (PMID: 19727525) Wang Q … Tang H (Acta biochimica et biophysica Sinica 2009) 3 23 56
  4. KazrinE is a desmosome-associated liprin that colocalises with acetylated microtubules. (PMID: 19843585) Nachat R … Watt FM (Journal of cell science 2009) 3 23 56
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56

Products for KAZN Gene

Sources for KAZN Gene