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Aliases for KAZN Gene

Aliases for KAZN Gene

  • Kazrin, Periplakin Interacting Protein 2 3
  • KAZ 3 4
  • KIAA1026 4
  • Kazrin 3

External Ids for KAZN Gene

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. An important paralog of this gene is PPFIBP2.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KAZN Gene

Genomics for KAZN Gene

Genomic Location for KAZN Gene

Start:
13,893,155 bp from pter
End:
15,118,048 bp from pter
Size:
1,224,894 bases
Orientation:
Plus strand

Genomic View for KAZN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KAZN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KAZN Gene

No data available for Regulatory Elements 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

Proteomics data for KAZN Gene at MOPED

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 for KAZN Gene

Gene Families for KAZN Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for KAZN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KAZN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q674X7

UniProtKB/Swiss-Prot:

KAZRN_HUMAN :
  • Q674X7
Domain:
  • Contains 3 SAM (sterile alpha motif) domains.
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.

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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.

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:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0030057 desmosome IDA 15337775
genes like me logo Genes that share ontologies with KAZN: view

No data available for Subcellular locations from COMPARTMENTS for KAZN Gene

Pathways for KAZN Gene

SuperPathways for KAZN Gene

No Data Available

Gene Ontology (GO) - Biological Process for KAZN Gene

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

No data available for Pathways by source for KAZN Gene

Transcripts for KAZN Gene

Unigene Clusters for KAZN Gene

Kazrin, periplakin interacting protein:
Representative Sequences:

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 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 (4.7), Brain - Cerebellar Hemisphere (4.3), and Brain - Cerebellum (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KAZN Gene

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).
genes like me logo Genes that share expressions with KAZN: view

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 35
  • 99.66 (n)
  • 100 (a)
KAZN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KAZN 35
  • 93.46 (n)
  • 97.29 (a)
KAZN 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KAZN 35
  • 93.66 (n)
  • 96.98 (a)
KAZN 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kazn 35
  • 89.71 (n)
  • 93.67 (a)
Kazn 16
Kazn 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KAZN 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KAZN 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kazn 35
  • 89.35 (n)
  • 94.35 (a)
chicken
(Gallus gallus)
Aves KAZN 36
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1778 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kazn 35
  • 73.08 (n)
  • 84.87 (a)
Str.17695 35
zebrafish
(Danio rerio)
Actinopterygii KAZN (1 of 3) 36
  • 72 (a)
OneToMany
KAZN (2 of 3) 36
  • 60 (a)
OneToMany
KAZN (3 of 3) 36
  • 67 (a)
OneToMany
si:dkey-159f12.3 35
  • 64.62 (n)
  • 65.15 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007137 35
  • 56.72 (n)
  • 46.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta Liprin-gamma 35
  • 55.79 (n)
  • 45.53 (a)
Liprin-gamma 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5992 36
  • 39 (a)
OneToOne
Species with no ortholog for KAZN:
  • 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)

Paralogs for KAZN Gene

Paralogs for KAZN Gene

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

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

Variants for KAZN Gene

Sequence variations from dbSNP and Humsavar for KAZN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs471778 -- 14,206,650(+) tttCC(A/T)TTTAT intron-variant
rs474160 -- 15,102,295(-) AGCCA(A/T)CCCTG intron-variant
rs476430 -- 14,206,118(+) GGAAT(A/T)ATTAC intron-variant
rs476563 -- 14,179,874(+) AACAC(A/G)TCAGA intron-variant
rs476859 -- 15,102,012(-) AGGGG(A/G)TTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833314 CNV Loss 17160897
nsv460506 CNV Loss 19166990
nsv3298 CNV Insertion 18451855
nsv470697 CNV Gain 18288195
esv2637393 CNV Insertion 19546169
esv1497348 CNV Insertion 17803354
nsv871585 CNV Gain 21882294
nsv871843 CNV Loss 21882294
nsv870604 CNV Loss 21882294
esv2670554 CNV Deletion 23128226
esv8986 CNV Gain 19470904
esv2744119 CNV Deletion 23290073
esv1214811 CNV Insertion 17803354
dgv18e201 CNV Deletion 23290073
esv2744142 CNV Deletion 23290073
esv2744164 CNV Deletion 23290073
esv2744175 CNV Deletion 23290073
esv2744186 CNV Deletion 23290073
nsv820102 CNV Gain 19587683
esv23718 CNV Loss 19812545
nsv441681 CNV CNV 18776908
esv2744197 CNV Deletion 23290073
esv2744208 CNV Deletion 23290073
esv2656721 CNV Deletion 23128226
esv2676425 CNV Deletion 23128226
esv27978 CNV Loss 19812545
nsv520075 CNV Loss 19592680
nsv527648 CNV Loss 19592680
nsv517844 CNV Loss 19592680
nsv521566 CNV Gain 19592680
nsv871490 CNV Loss 21882294
dgv170n71 CNV Loss 21882294
esv22036 CNV Loss 19812545
esv2744219 CNV Deletion 23290073
esv1011013 CNV Deletion 20482838
esv1748933 CNV Deletion 17803354
esv2744230 CNV Deletion 23290073
esv2678969 CNV Deletion 23128226
esv1186245 CNV Insertion 17803354
nsv870788 CNV Loss 21882294
esv2744241 CNV Deletion 23290073
esv2313486 CNV Deletion 18987734
esv2744253 CNV Deletion 23290073
esv2744264 CNV Deletion 23290073
esv2744275 CNV Deletion 23290073
esv2744286 CNV Deletion 23290073
nsv833425 CNV Gain 17160897
nsv508913 CNV Insertion 20534489
esv2618588 CNV Deletion 19546169

Relevant External Links for KAZN Gene

HapMap Linkage Disequilibrium report
KAZN

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

Disorders for KAZN Gene

No disorders were found for KAZN Gene.

No data available for UniProtKB/Swiss-Prot 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 K.R. … Watt F.M. (J. Cell Biol. 2004) 2 3 4 23
  2. Kazrin regulates keratinocyte cytoskeletal networks, intercellular junctions and differentiation. (PMID: 18840647) Sevilla L.M. … Watt F.M. (J. Cell. Sci. 2008) 2 3 23
  3. Kazrin F is involved in apoptosis and interacts with BAX and ARC. (PMID: 19727525) Wang Q. … Tang H. (Acta Biochim. Biophys. Sin. (Shanghai) 2009) 3 23
  4. KazrinE is a desmosome-associated liprin that colocalises with acetylated microtubules. (PMID: 19843585) Nachat R. … Watt F.M. (J. Cell. Sci. 2009) 3 23
  5. 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. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4

Products for KAZN Gene

Sources for KAZN Gene

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