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KAZN kazrin, periplakin interacting protein [ Homo sapiens (human) ]

Gene ID: 23254, updated on 11-Sep-2019

Summary

Official Symbol
KAZNprovided by HGNC
Official Full Name
kazrin, periplakin interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:29173
See related
Ensembl:ENSG00000189337 MIM:618301
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KAZ; C1orf196
Summary
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]
Expression
Broad expression in spleen (RPKM 16.3), brain (RPKM 5.1) and 17 other tissues See more
Orthologs

Genomic context

See KAZN in Genome Data Viewer
Location:
1p36.21
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (13893386..15118043)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (14219646..15444544)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376756 Neighboring gene PR/SET domain 2 Neighboring gene RNA, U6 small nuclear 1265, pseudogene Neighboring gene uncharacterized LOC107985467 Neighboring gene uncharacterized LOC107985468 Neighboring gene KAZN antisense RNA 1 Neighboring gene uncharacterized LOC105376759 Neighboring gene tubulin folding cofactor A pseudogene 2 Neighboring gene uncharacterized LOC107985469 Neighboring gene Sharpr-MPRA regulatory region 2794 Neighboring gene TMEM51 antisense RNA 1 Neighboring gene mitochondrial fission factor pseudogene Neighboring gene chromosome 1 open reading frame 195 Neighboring gene transmembrane protein 51

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10199, FLJ32593, FLJ43398, FLJ43806, KIAA1026, MGC126686, MGC142181, DKFZp686D08115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cornification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
desmosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029844.2 RefSeqGene

    Range
    710300..1229658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017999.2NP_001017999.1  kazrin isoform C

    See identical proteins and their annotated locations for NP_001017999.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) has multiple differences in the 5' and 3' termini, compared to variant E. These differences result in an isoform (C) with a shorter N-terminus and a shorter and distince C-terminus, compared to isoform E. Variants C and D encode the same protein.
    Source sequence(s)
    AL035405, AY505122
    Consensus CDS
    CCDS41268.1
    UniProtKB/Swiss-Prot
    Q674X7
    Related
    ENSP00000383601.3, ENST00000400797.3
    Conserved Domains (1) summary
    cl25732
    Location:2160
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001018000.3NP_001018000.1  kazrin isoform B

    See identical proteins and their annotated locations for NP_001018000.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) has multiple differences in the 5' and 3' termini, compared to variant E. These differences result in an isoform (B) with a distinct N-terminus and a shorter and distince C-terminus, compared to isoform E.
    Source sequence(s)
    AL035405, AY505120, BC035501
    Consensus CDS
    CCDS30604.1
    UniProtKB/Swiss-Prot
    Q674X7
    Related
    ENSP00000354727.5, ENST00000361144.9
    Conserved Domains (2) summary
    pfam10473
    Location:72195
    CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
    pfam13863
    Location:118231
    DUF4200; Domain of unknown function (DUF4200)
  3. NM_001018001.2NP_001018001.1  kazrin isoform C

    See identical proteins and their annotated locations for NP_001018001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) has multiple differences in the 5' and 3' termini, compared to variant E. These differences result in an isoform (C) with a shorter N-terminus and a shorter and distince C-terminus, compared to isoform E. Variants C and D encode the same protein.
    Source sequence(s)
    AL035405, AY505121
    Consensus CDS
    CCDS41268.1
    UniProtKB/Swiss-Prot
    Q674X7
    Related
    ENSP00000383602.2, ENST00000400798.6
    Conserved Domains (1) summary
    cl25732
    Location:2160
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001370229.1NP_001357158.1  kazrin isoform F

    Status: REVIEWED

    Source sequence(s)
    AL035405, AL391215, AL445263
  5. NM_001370230.1NP_001357159.1  kazrin isoform G

    Status: REVIEWED

    Source sequence(s)
    AL034395, AL035405, AL391215
  6. NM_001370231.1NP_001357160.1  kazrin isoform H

    Status: REVIEWED

    Source sequence(s)
    AL035405, AL391215
  7. NM_015209.2NP_056024.1  kazrin isoform A

    See identical proteins and their annotated locations for NP_056024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) contains an alternate segment and lacks multiple exons in the 3' terminus, compared to variant E. These differences result in an isoform (A) with a shorter and distinct C-terminus, compared to isoform E.
    Source sequence(s)
    AL035405, AY505119, BI916330
    Consensus CDS
    CCDS41267.1
    UniProtKB/Swiss-Prot
    Q674X7
    Conserved Domains (1) summary
    cl25732
    Location:78254
    SMC_N; RecF/RecN/SMC N terminal domain
  8. NM_201628.3NP_963922.2  kazrin isoform E

    See identical proteins and their annotated locations for NP_963922.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (E) represents the longest transcript and encodes the longest isoform (E).
    Source sequence(s)
    AL034395, AL035405, AY505119, BI916330, BX648256, DA317442, DN831635, DR003677
    Consensus CDS
    CCDS152.2
    UniProtKB/Swiss-Prot
    Q674X7
    Related
    ENSP00000365198.2, ENST00000376030.7
    Conserved Domains (4) summary
    cd09564
    Location:443512
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    cd09567
    Location:522586
    SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
    cd09570
    Location:608679
    SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
    cl25732
    Location:78254
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    13893386..15118043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541074.3XP_011539376.1  kazrin isoform X1

    Conserved Domains (6) summary
    cd09564
    Location:541610
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    cd09567
    Location:620684
    SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
    cd09570
    Location:706777
    SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
    smart00454
    Location:541608
    SAM; Sterile alpha motif
    pfam05010
    Location:175350
    TACC; Transforming acidic coiled-coil-containing protein (TACC)
    pfam13863
    Location:222335
    DUF4200; Domain of unknown function (DUF4200)
  2. XM_005245795.5XP_005245852.1  kazrin isoform X3

    Related
    ENSP00000490958.1, ENST00000636203.1
    Conserved Domains (6) summary
    cd09564
    Location:541610
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    cd09567
    Location:620684
    SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
    cd09570
    Location:706777
    SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
    smart00454
    Location:541608
    SAM; Sterile alpha motif
    pfam05010
    Location:175350
    TACC; Transforming acidic coiled-coil-containing protein (TACC)
    pfam13863
    Location:222335
    DUF4200; Domain of unknown function (DUF4200)
  3. XM_011541080.3XP_011539382.1  kazrin isoform X5

    Conserved Domains (4) summary
    cd09564
    Location:541610
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    smart00454
    Location:541608
    SAM; Sterile alpha motif
    pfam10473
    Location:176299
    CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
    pfam13863
    Location:222335
    DUF4200; Domain of unknown function (DUF4200)
  4. XM_017000770.2XP_016856259.1  kazrin isoform X8

  5. XM_017000768.2XP_016856257.1  kazrin isoform X6

  6. XM_017000769.2XP_016856258.1  kazrin isoform X7

  7. XM_017000771.1XP_016856260.1  kazrin isoform X9

    UniProtKB/Swiss-Prot
    Q674X7
    Related
    ENSP00000426015.1, ENST00000503743.5
    Conserved Domains (1) summary
    cl25732
    Location:78254
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_011541075.2XP_011539377.1  kazrin isoform X2

    Conserved Domains (6) summary
    cd09564
    Location:437506
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    cd09567
    Location:516580
    SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
    cd09570
    Location:602673
    SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
    smart00454
    Location:437504
    SAM; Sterile alpha motif
    pfam05010
    Location:71246
    TACC; Transforming acidic coiled-coil-containing protein (TACC)
    pfam13863
    Location:118231
    DUF4200; Domain of unknown function (DUF4200)
  9. XM_011541077.2XP_011539379.1  kazrin isoform X4

    See identical proteins and their annotated locations for XP_011539379.1

    Conserved Domains (6) summary
    cd09564
    Location:349418
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    cd09567
    Location:428492
    SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
    cd09570
    Location:514585
    SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
    smart00454
    Location:349416
    SAM; Sterile alpha motif
    pfam12718
    Location:31150
    Tropomyosin_1; Tropomyosin like
    pfam13863
    Location:30143
    DUF4200; Domain of unknown function (DUF4200)
  10. XM_011541076.2XP_011539378.1  kazrin isoform X4

    See identical proteins and their annotated locations for XP_011539378.1

    Conserved Domains (6) summary
    cd09564
    Location:349418
    SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
    cd09567
    Location:428492
    SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
    cd09570
    Location:514585
    SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
    smart00454
    Location:349416
    SAM; Sterile alpha motif
    pfam12718
    Location:31150
    Tropomyosin_1; Tropomyosin like
    pfam13863
    Location:30143
    DUF4200; Domain of unknown function (DUF4200)
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