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    Katnip katanin interacting protein [ Mus musculus (house mouse) ]

    Gene ID: 233865, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Katnipprovided by MGI
    Official Full Name
    katanin interacting proteinprovided by MGI
    Primary source
    MGI:MGI:2442760
    See related
    Ensembl:ENSMUSG00000032743 AllianceGenome:MGI:2442760
    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
    Kiaa0556; D430042O09Rik
    Summary
    Acts upstream of or within cerebrospinal fluid circulation. Predicted to be located in several cellular components, including cell projection; cytoskeleton; and extracellular region. Is expressed in central nervous system; retina inner nuclear layer; and retina outer nuclear layer. Used to study Joubert syndrome 26. Human ortholog(s) of this gene implicated in Joubert syndrome 26. Orthologous to human KATNIP (katanin interacting protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 13.6), ovary adult (RPKM 5.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Katnip in Genome Data Viewer
    Location:
    7 F3; 7 69.01 cM
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (125307027..125473967)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (125707855..125874795)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6598 Neighboring gene STARR-positive B cell enhancer ABC_E2847 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:132773929-132774138 Neighboring gene STARR-positive B cell enhancer ABC_E11367 Neighboring gene interleukin 21 receptor Neighboring gene general transcription factor III C 1 Neighboring gene STARR-positive B cell enhancer ABC_E2848 Neighboring gene VISTA enhancer mm174 Neighboring gene STARR-seq mESC enhancer starr_20126 Neighboring gene GSG1-like Neighboring gene predicted gene, 51456 Neighboring gene STARR-seq mESC enhancer starr_20127 Neighboring gene exportin 6 Neighboring gene LAG1 homolog, ceramide synthase 2 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. A Circular RNA Protects Dormant Hematopoietic Stem Cells from DNA Sensor cGAS-Mediated Exhaustion. Xia P, et al. Immunity, 2018 Apr 17. PMID 29625897
    2. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Sanders AA, et al. Genome Biol, 2015 Dec 29. PMID 26714646, Free PMC Article
    3. The TRIM9/TRIM67 neuronal interactome reveals novel activators of morphogenesis. Menon S, et al. Mol Biol Cell, 2021 Feb 15. PMID 33378226, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    5. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC31549

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    katanin-interacting protein

    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.

    mRNA and Protein(s)

    1. NM_001081022.2 → NP_001074491.1  katanin-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_001074491.1

      Status: VALIDATED

      Source sequence(s)
      AC127333, AC150648
      Consensus CDS
      CCDS40123.1
      UniProtKB/Swiss-Prot
      Q80TX9, Q8C753, Q8C759, Q8CFE1, Q8K0N9
      UniProtKB/TrEMBL
      B2RXY0
      Related
      ENSMUSP00000065744.7, ENSMUST00000069660.13
      Conserved Domains (1) summary
      pfam14652
      Location:1205 → 1524
      DUF4457; Domain of unknown function (DUF4457)

    2. NM_001358287.1 → NP_001345216.1  katanin-interacting protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC127333, AC150648
      Consensus CDS
      CCDS90326.1
      UniProtKB/TrEMBL
      B2RXY0, F6XQI1
      Related
      ENSMUSP00000118668.3, ENSMUST00000124223.8
      Conserved Domains (1) summary
      pfam14652
      Location:1179 → 1498
      DUF4457; Domain of unknown function (DUF4457)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      125307027..125473967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030242515.1 → XP_030098375.1  katanin-interacting protein isoform X5

      UniProtKB/TrEMBL
      B2RXY0
      Conserved Domains (1) summary
      pfam14652
      Location:1133 → 1452
      DUF4457; Domain of unknown function (DUF4457)

    2. XM_011241771.4 → XP_011240073.1  katanin-interacting protein isoform X2

      UniProtKB/TrEMBL
      B2RXY0
      Conserved Domains (1) summary
      pfam14652
      Location:1214 → 1533
      DUF4457; Domain of unknown function (DUF4457)

    3. XM_036153011.1 → XP_036008904.1  katanin-interacting protein isoform X3

      UniProtKB/TrEMBL
      B2RXY0, F6XQI1
      Conserved Domains (1) summary
      pfam14652
      Location:1179 → 1498
      DUF4457; Domain of unknown function (DUF4457)

    4. XM_006507718.2 → XP_006507781.1  katanin-interacting protein isoform X3

      See identical proteins and their annotated locations for XP_006507781.1

      UniProtKB/TrEMBL
      B2RXY0, F6XQI1
      Conserved Domains (1) summary
      pfam14652
      Location:1179 → 1498
      DUF4457; Domain of unknown function (DUF4457)

    5. XM_017322208.2 → XP_017177697.1  katanin-interacting protein isoform X6

      Conserved Domains (1) summary
      pfam14652
      Location:986 → 1278
      DUF4457; Domain of unknown function (DUF4457)

    6. XM_017322207.2 → XP_017177696.1  katanin-interacting protein isoform X1

      UniProtKB/TrEMBL
      B2RXY0
      Conserved Domains (1) summary
      pfam14652
      Location:1222 → 1541
      DUF4457; Domain of unknown function (DUF4457)

    7. XM_011241774.3 → XP_011240076.1  katanin-interacting protein isoform X4

      UniProtKB/TrEMBL
      B2RXY0
      Conserved Domains (1) summary
      pfam14652
      Location:1150 → 1469
      DUF4457; Domain of unknown function (DUF4457)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C753.2 GenPept UniProtKB/Swiss-Prot:Q8C753

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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