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

Gene ID: 233865, updated on 21-Apr-2024

Summary

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. Located in 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, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 13.6), ovary adult (RPKM 5.7) and 28 other tissues See more
Orthologs
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Genomic context

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

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)
  • Gene trapped (1) 
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 

General protein information

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_001081022.2NP_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:12051524
    DUF4457; Domain of unknown function (DUF4457)
  2. NM_001358287.1NP_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:11791498
    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_030242515.1XP_030098375.1  katanin-interacting protein isoform X5

    UniProtKB/TrEMBL
    B2RXY0
    Conserved Domains (1) summary
    pfam14652
    Location:11331452
    DUF4457; Domain of unknown function (DUF4457)
  2. XM_011241771.4XP_011240073.1  katanin-interacting protein isoform X2

    UniProtKB/TrEMBL
    B2RXY0
    Conserved Domains (1) summary
    pfam14652
    Location:12141533
    DUF4457; Domain of unknown function (DUF4457)
  3. XM_036153011.1XP_036008904.1  katanin-interacting protein isoform X3

    UniProtKB/TrEMBL
    B2RXY0, F6XQI1
    Conserved Domains (1) summary
    pfam14652
    Location:11791498
    DUF4457; Domain of unknown function (DUF4457)
  4. XM_006507718.2XP_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:11791498
    DUF4457; Domain of unknown function (DUF4457)
  5. XM_017322208.2XP_017177697.1  katanin-interacting protein isoform X6

    Conserved Domains (1) summary
    pfam14652
    Location:9861278
    DUF4457; Domain of unknown function (DUF4457)
  6. XM_017322207.2XP_017177696.1  katanin-interacting protein isoform X1

    UniProtKB/TrEMBL
    B2RXY0
    Conserved Domains (1) summary
    pfam14652
    Location:12221541
    DUF4457; Domain of unknown function (DUF4457)
  7. XM_011241774.3XP_011240076.1  katanin-interacting protein isoform X4

    UniProtKB/TrEMBL
    B2RXY0
    Conserved Domains (1) summary
    pfam14652
    Location:11501469
    DUF4457; Domain of unknown function (DUF4457)