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    Kazn kazrin, periplakin interacting protein [ Mus musculus (house mouse) ]

    Gene ID: 71529, updated on 8-Dec-2018

    Summary

    Official Symbol
    Kaznprovided by MGI
    Official Full Name
    kazrin, periplakin interacting proteinprovided by MGI
    Primary source
    MGI:MGI:1918779
    See related
    Ensembl:ENSMUSG00000040606
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Kaz; Kazrin; AI256607; AI666764; AW061099; 2310007B04Rik; 9030409G11Rik
    Annotation information
    Annotation category: suggests misassembly
    Annotation category: partial on reference assembly
    Expression
    Ubiquitous expression in kidney adult (RPKM 9.1), cerebellum adult (RPKM 6.9) and 24 other tissues See more
    Orthologs

    Genomic context

    See Kazn in Genome Data Viewer
    Location:
    4; 4 E1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (142102390..142239401, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (141658305..141795316, complement)

    Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930455G09 gene Neighboring gene transmembrane protein 51 Neighboring gene Tmem51 opposite strand 1 Neighboring gene predicted gene, 35581 Neighboring gene predicted gene, 35531 Neighboring gene predicted gene, 46875 Neighboring gene predicted gene, 42339

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    keratinization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cornified envelope ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    desmosome ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    nuclear speck ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    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.

    mRNA and Protein(s)

    1. NM_001109684.1NP_001103154.1  kazrin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, also known as A) lacks several 3' coding exons and its transcription extends past a splice site that is used in variant 1. These changes result in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK052809, AK173090, AW456861, BB006374
      UniProtKB/Swiss-Prot
      Q69ZS8
      Conserved Domains (1) summary
      pfam13863
      Location:129242
      DUF4200; Domain of unknown function (DUF4200)
    2. NM_001109685.1NP_001103155.1  kazrin isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3, also known as B) contains multiple differences at both the 5' and 3' ends, including the lack of multiple coding exons, compared to variant 1. It represents the use of an alternate promoter and initiates translation at an alternate start codon. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK052809, AW456861, BB006374, BY720670
      Consensus CDS
      CCDS51350.1
      UniProtKB/Swiss-Prot
      Q69ZS8
      Related
      ENSMUSP00000038835.3, ENSMUST00000036476.9
      Conserved Domains (1) summary
      cl25732
      Location:71248
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_144531.3NP_653114.3  kazrin isoform 1

      See identical proteins and their annotated locations for NP_653114.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK032460, AK173090, AW061099, CD349067
      UniProtKB/Swiss-Prot
      Q69ZS8
      UniProtKB/TrEMBL
      Q8BJ43
      Related
      ENSMUSP00000116071.1, ENSMUST00000155023.7
      Conserved Domains (6) summary
      cd09564
      Location:447516
      SAM_kazrin_repeat1; SAM domain of kazrin proteins repeat 1
      cd09567
      Location:526590
      SAM_kazrin_repeat2; SAM domain of kazrin proteins repeat 2
      cd09570
      Location:612683
      SAM_kazrin_repeat3; SAM domain of kazrin proteins repeat 3
      smart00454
      Location:447514
      SAM; Sterile alpha motif
      pfam05010
      Location:82257
      TACC; Transforming acidic coiled-coil-containing protein (TACC)
      pfam13863
      Location:129242
      DUF4200; Domain of unknown function (DUF4200)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

      Range
      142102390..142239401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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