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

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; AllianceGenome:HGNC:29173
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: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (13892824..15118043)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (13334833..14562121)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (14925181..15444539)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KAZN as a diagnostic marker in ovarian cancer: a comprehensive analysis based on microarray, mRNA-sequencing, and methylation data.
Title: KAZN as a diagnostic marker in ovarian cancer: a comprehensive analysis based on microarray, mRNA-sequencing, and methylation data.
exons 5-15 of kazrin, encoding the nuclear localization signal and C-terminal domain, are not required for epidermal development and function
Title: Exons 5-15 of kazrin are dispensable for murine epidermal morphogenesis and homeostasis.
kazrinE is a kazrin isoform with a liprin-homology domain(LHD), and associates with stabilised microtubules via its LHD. Overexpressed kazrinE in epidermal keratinocytes induces changes in cell shape and stimulates terminal differentiation.
Title: KazrinE is a desmosome-associated liprin that colocalises with acetylated microtubules.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These results suggested that Kazrin F might play an important role in regulating cellular apoptosis by interacting with ARC and Bax.
Title: Kazrin F is involved in apoptosis and interacts with BAX and ARC.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
kazrin is a dual regulator of intercellular adhesion and differentiation in keratinocytes and regulates these processes by Rho-dependent and -independent mechanisms
Title: Kazrin regulates keratinocyte cytoskeletal networks, intercellular junctions and differentiation.
Kazrin colocalizes with periplakin and desmoplakin at desmosomes and with periplakin at the interdesmosomal plasma membrane, but its subcellular distribution is independent of periplakin [kazrin]
Title: Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S507 (e-PCR), detects polymorphism
- UniSTS:15360

SHGC-30767 (e-PCR)
- UniSTS:4362

SHGC-74254 (e-PCR)
- UniSTS:41492

SHGC-30459 (e-PCR)
- UniSTS:36122

RH93212 (e-PCR)
- UniSTS:90148

SHGC-146354 (e-PCR)
- UniSTS:172590

D1S1356 (e-PCR)
- UniSTS:149552

NoName (e-PCR)
- UniSTS:486960

RH26678 (e-PCR)
- UniSTS:83764

D1S1362 (e-PCR)
- UniSTS:149558

9030409G11Rik (e-PCR), detects polymorphism
- UniSTS:480312

9030409G11Rik (e-PCR), detects polymorphism
- UniSTS:480313

9030409G11Rik (e-PCR), detects polymorphism
- UniSTS:480314

9030409G11Rik (e-PCR), detects polymorphism
- UniSTS:480315

9030409G11Rik (e-PCR), detects polymorphism
- UniSTS:480316

D1S2672 (e-PCR), detects polymorphism
- UniSTS:18501

AL010010 (e-PCR)
- UniSTS:63563

D1S2728 (e-PCR), detects polymorphism
- UniSTS:34639

AL009815 (e-PCR)
- UniSTS:34392

RH64663 (e-PCR)
- UniSTS:48998

D1S1411 (e-PCR)
- UniSTS:149607

REN51636 (e-PCR)
- UniSTS:376436

D1S1438 (e-PCR)
- UniSTS:149634

G65657 (e-PCR)
- UniSTS:225448

D1S1850E (e-PCR)
- UniSTS:150960

G32345 (e-PCR)
- UniSTS:116936

A006G25 (e-PCR)
- UniSTS:26577

RH67949 (e-PCR)
- UniSTS:19683

D1S1176 (e-PCR)
- UniSTS:149220

SHGC-74252 (e-PCR)
- UniSTS:1006

SHGC-81250 (e-PCR)
- UniSTS:102383

SHGC-152962 (e-PCR)
- UniSTS:173552

D1S507 (e-PCR), detects polymorphism
- UniSTS:23793

AL010125 (e-PCR)
- UniSTS:40951

Clone Names

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in keratinization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: kazrin

NCBI Reference Sequences (RefSeq)

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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

NG_029844.2 RefSeqGene

Range

710300..1229658

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001017999.3 → NP_001017999.1 kazrin isoform C

Status: REVIEWED

Source sequence(s)

AL035405, AL391215, AY505122

Consensus CDS

CCDS41268.1

UniProtKB/Swiss-Prot

Q674X7

Related

ENSP00000383601.3, ENST00000400797.3

Conserved Domains (1) summary

COG1196
Location:3 → 150

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001018000.4 → NP_001018000.1 kazrin isoform B

Status: REVIEWED

Source sequence(s)

AL035405, BC035501

Consensus CDS

CCDS30604.1

UniProtKB/Swiss-Prot

Q674X7

Related

ENSP00000354727.5, ENST00000361144.9

Conserved Domains (2) summary

pfam10473
Location:72 → 195

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam13863
Location:118 → 231

DUF4200; Domain of unknown function (DUF4200)
NM_001018001.3 → NP_001018001.1 kazrin isoform C

Status: REVIEWED

Source sequence(s)

AL035405, AL391215, AY505121

Consensus CDS

CCDS41268.1

UniProtKB/Swiss-Prot

Q674X7

Related

ENSP00000383602.2, ENST00000400798.6

Conserved Domains (1) summary

COG1196
Location:3 → 150

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001370229.2 → NP_001357158.1 kazrin isoform F

Status: REVIEWED

Source sequence(s)

AL035405, AL391215, AL445263

Conserved Domains (1) summary

TIGR02168
Location:69 → 245

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
NM_001370230.2 → NP_001357159.1 kazrin isoform G

Status: REVIEWED

Source sequence(s)

AL034395, AL035405, AL391215

Conserved Domains (1) summary

COG1196
Location:21 → 179

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_001370231.2 → NP_001357160.2 kazrin isoform C

Status: REVIEWED

Source sequence(s)

AL035405, AL391215
NM_015209.3 → NP_056024.1 kazrin isoform A

Status: REVIEWED

Source sequence(s)

AL034395, AL035405, AL391215

Consensus CDS

CCDS41267.1

UniProtKB/Swiss-Prot

Q674X7

Conserved Domains (1) summary

cl25732
Location:78 → 254

SMC_N; RecF/RecN/SMC N terminal domain
NM_201628.3 → NP_963922.2 kazrin isoform E

Status: REVIEWED

Source sequence(s)

AL034395, AL035405, AY505119, BI916330, BX648256, DA317442, DN831635, DR003677

Consensus CDS

CCDS152.2

UniProtKB/Swiss-Prot

B0QYQ0, B1AJZ1, B1AK78, Q5TGF1, Q674X4, Q674X6, Q674X7, Q6ZUD1, Q8IYN7, Q8N409, Q9UIL2, Q9UPX4

UniProtKB/TrEMBL

A0A1B0GWK2

Related

ENSP00000365198.2, ENST00000376030.7

Conserved Domains (4) summary

cd09564
Location:443 → 512

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

cd09567
Location:522 → 586

SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2

cd09570
Location:608 → 679

SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3

cl25732
Location:78 → 254

SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

13892824..15118043

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541074.4 → XP_011539376.1 kazrin isoform X1

UniProtKB/TrEMBL

A0A1B0GWK2

Conserved Domains (6) summary

cd09564
Location:541 → 610

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

cd09567
Location:620 → 684

SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2

cd09570
Location:706 → 777

SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3

smart00454
Location:541 → 608

SAM; Sterile alpha motif

pfam05010
Location:175 → 350

TACC; Transforming acidic coiled-coil-containing protein (TACC)

pfam13863
Location:222 → 335

DUF4200; Domain of unknown function (DUF4200)
XM_005245795.6 → XP_005245852.1 kazrin isoform X4

UniProtKB/TrEMBL

A0A1B0GWK2

Related

ENSP00000490958.1, ENST00000636203.1

Conserved Domains (6) summary

cd09564
Location:541 → 610

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

cd09567
Location:620 → 684

SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2

cd09570
Location:706 → 777

SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3

smart00454
Location:541 → 608

SAM; Sterile alpha motif

pfam05010
Location:175 → 350

TACC; Transforming acidic coiled-coil-containing protein (TACC)

pfam13863
Location:222 → 335

DUF4200; Domain of unknown function (DUF4200)
XM_011541080.4 → XP_011539382.1 kazrin isoform X7

Conserved Domains (4) summary

cd09564
Location:541 → 610

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

smart00454
Location:541 → 608

SAM; Sterile alpha motif

pfam10473
Location:176 → 299

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam13863
Location:222 → 335

DUF4200; Domain of unknown function (DUF4200)
XM_017000770.3 → XP_016856259.1 kazrin isoform X11
XM_017000768.3 → XP_016856257.1 kazrin isoform X9
XM_017000769.3 → XP_016856258.1 kazrin isoform X10
XM_047415845.1 → XP_047271801.1 kazrin isoform X2

UniProtKB/TrEMBL

A0A1B0GWK2
XM_017000771.2 → XP_016856260.1 kazrin isoform X12

UniProtKB/Swiss-Prot

Q674X7

Related

ENSP00000426015.1, ENST00000503743.5

Conserved Domains (1) summary

cl25732
Location:78 → 254

SMC_N; RecF/RecN/SMC N terminal domain
XM_047415858.1 → XP_047271814.1 kazrin isoform X5
XM_011541075.3 → XP_011539377.1 kazrin isoform X3

Conserved Domains (6) summary

cd09564
Location:437 → 506

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

cd09567
Location:516 → 580

SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2

cd09570
Location:602 → 673

SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3

smart00454
Location:437 → 504

SAM; Sterile alpha motif

pfam05010
Location:71 → 246

TACC; Transforming acidic coiled-coil-containing protein (TACC)

pfam13863
Location:118 → 231

DUF4200; Domain of unknown function (DUF4200)
XM_047415880.1 → XP_047271836.1 kazrin isoform X13
XM_011541077.3 → XP_011539379.1 kazrin isoform X6

Conserved Domains (6) summary

cd09564
Location:349 → 418

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

cd09567
Location:428 → 492

SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2

cd09570
Location:514 → 585

SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3

smart00454
Location:349 → 416

SAM; Sterile alpha motif

pfam12718
Location:31 → 150

Tropomyosin_1; Tropomyosin like

pfam13863
Location:30 → 143

DUF4200; Domain of unknown function (DUF4200)
XM_011541076.3 → XP_011539378.1 kazrin isoform X6

Conserved Domains (6) summary

cd09564
Location:349 → 418

SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1

cd09567
Location:428 → 492

SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2

cd09570
Location:514 → 585

SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3

smart00454
Location:349 → 416

SAM; Sterile alpha motif

pfam12718
Location:31 → 150

Tropomyosin_1; Tropomyosin like

pfam13863
Location:30 → 143

DUF4200; Domain of unknown function (DUF4200)
XM_047415868.1 → XP_047271824.1 kazrin isoform X8