Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23254
Gene name Gene Name - the full gene name approved by the HGNC.
Kazrin, periplakin interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KAZN
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf196, KAZ
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.21
Summary Summary of gene provided in NCBI Entrez 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 locali
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1079251 hsa-miR-103a CLIP-seq
MIRT1079252 hsa-miR-106a CLIP-seq
MIRT1079253 hsa-miR-106b CLIP-seq
MIRT1079254 hsa-miR-107 CLIP-seq
MIRT1079255 hsa-miR-1178 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IDA 15337775
GO:0005515 Function Protein binding IPI 25416956
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618301 29173 ENSG00000189337
Protein
UniProt ID Q674X7
Protein name Kazrin
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00536 SAM_1 444 509 SAM domain (Sterile alpha motif) Domain
PF00536 SAM_1 524 585 SAM domain (Sterile alpha motif) Domain
PF07647 SAM_2 609 672 SAM domain (Sterile alpha motif) Domain
Tissue specificity 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 interfollicul
Sequence
MMEDNKQLALRIDGAVQSASQEVTNLRAELTATNRRLAELSGGGGPGPGPGAAASASAAG
DSAATNMENPQLGAQVLLREEVSRLQEEVHLLRQMKEMLAKDLEESQGGKSSEVLSATEL
RVQLAQKEQELARAKEALQAMKADRKRLKGEKTDLVSQMQQLYATLESREEQLRDFIRNY
EQHRKESEDAVKALAKEKDLLEREKWELRRQAKEATDHATALRSQLDLKDNRMKELEAEL
AMAKQSLATLTKDVPKRHSLAMPGETVLNGNQEWVVQADLPLTAAIRQSQQTLYHSHPPH
PADRQAVRVSPCHSRQPSVISDASAAEGDRSSTPSDINSPRHRTHSLCNGDSPGPVQKNL
HNPIVQSLEDLEDQKRKKKKEKMGFGSISRVFARGKQRKSLDPGLFDDSDSQCSPTRQSL
SLSEGEEQMDRLQQVELVRTTPMSHWKAGTVQAWLEVVMAMPMYVKACTENVKSGKVLLS
LSDEDLQLGLGVCSSLHRRKLRLAIEDYR
DAEAGRSLSKAAELDHHWVAKAWLNDIGLSQ
YSQAFQNHLVDGRMLNSLMKRDLEKHLNVSKKFHQVSILLGIELL
YQVNFSREALQERRA
RCETQNIDPVVWTNQRVLKWVRDIDLKEYADNLTNSGVHGAVLVLEPTFNAEAMATALGI
PSGKHILRRHLA
EEMSAVFHPANSTGIREAERFGTPPGRASSVTRAGKEENSSGLKYKAG
RLPLGKIGRGFSSKDPDFHDDYGSLQNEDCGDDDPQSRLEQCRLEGYNSLEVTNV
Sequence length 775
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Formation of the cornified envelope
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
29274321
Diabetes Diabetes rs80356611 31511532
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
31511532
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 31164008, 27622933 ClinVar
Stress Disorder Stress Disorder GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Moyamoya Disease Moyamoya Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Bartter Syndrome Associate 21937999
Carcinoma Hepatocellular Associate 38302914
Carcinoma Ovarian Epithelial Associate 35710397
Colorectal Neoplasms Associate 36171645
Endometriosis Associate 30044155
Fibrosis Associate 38302914
Neoplasms Associate 34859285, 35710397
Nonsyndromic sensorineural hearing loss Associate 21937999
Ovarian Neoplasms Associate 35710397
Psoriasis Associate 30092825