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Aliases for KATNB1 Gene

Aliases for KATNB1 Gene

  • Katanin Regulatory Subunit B1 2 3
  • Katanin P80 (WD Repeat Containing) Subunit B 1 2 3 5
  • Katanin P80 (WD40-Containing) Subunit B 1 2 3
  • Katanin P80 Subunit B1 3 4
  • P80 Katanin 3 4
  • Katanin P80 WD40-Containing Subunit B1 3
  • Katanin (80 KDa) 3
  • LIS6 3
  • KAT 3

External Ids for KATNB1 Gene

Previous GeneCards Identifiers for KATNB1 Gene

  • GC16P048165
  • GC16P057855
  • GC16P057505
  • GC16P057546
  • GC16P056328
  • GC16P057770
  • GC16P043636

Summaries for KATNB1 Gene

Entrez Gene Summary for KATNB1 Gene

  • Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]

GeneCards Summary for KATNB1 Gene

KATNB1 (Katanin Regulatory Subunit B1) is a Protein Coding gene. Diseases associated with KATNB1 include lissencephaly 6, with microcephaly and lissencephaly. GO annotations related to this gene include protein heterodimerization activity and dynein binding. An important paralog of this gene is WDR5B.

UniProtKB/Swiss-Prot for KATNB1 Gene

  • Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth.

Gene Wiki entry for KATNB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KATNB1 Gene

Genomics for KATNB1 Gene

Regulatory Elements for KATNB1 Gene

Enhancers for KATNB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KATNB1 on UCSC Golden Path with GeneCards custom track

Promoters for KATNB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KATNB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KATNB1 Gene

Chromosome:
16
Start:
57,735,720 bp from pter
End:
57,757,250 bp from pter
Size:
21,531 bases
Orientation:
Plus strand

Genomic View for KATNB1 Gene

Genes around KATNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KATNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KATNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KATNB1 Gene

Proteins for KATNB1 Gene

  • Protein details for KATNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVA0-KTNB1_HUMAN
    Recommended name:
    Katanin p80 WD40 repeat-containing subunit B1
    Protein Accession:
    Q9BVA0
    Secondary Accessions:
    • A6NCG6
    • O60620

    Protein attributes for KATNB1 Gene

    Size:
    655 amino acids
    Molecular mass:
    72334 Da
    Quaternary structure:
    • Interacts with PAFAH1B1 (By similarity). Interacts with KATNA1. This interaction enhances the microtubule binding and severing activity of KATNA1 and also targets this activity to the centrosome. Interacts with dynein, microtubules and NDEL1.

neXtProt entry for KATNB1 Gene

Proteomics data for KATNB1 Gene at MOPED

Post-translational modifications for KATNB1 Gene

  • Ubiquitination at Lys 96
  • Modification sites at PhosphoSitePlus

Other Protein References for KATNB1 Gene

No data available for DME Specific Peptides for KATNB1 Gene

Domains & Families for KATNB1 Gene

Gene Families for KATNB1 Gene

Suggested Antigen Peptide Sequences for KATNB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVA0

UniProtKB/Swiss-Prot:

KTNB1_HUMAN :
  • Belongs to the WD repeat KATNB1 family.
  • Contains 6 WD repeats.
Family:
  • Belongs to the WD repeat KATNB1 family.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with KATNB1: view

Function for KATNB1 Gene

Molecular function for KATNB1 Gene

UniProtKB/Swiss-Prot Function:
Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. Microtubule release within the cell body of neurons may be required for their transport into neuronal processes by microtubule-dependent motor proteins. This transport is required for axonal growth.

Gene Ontology (GO) - Molecular Function for KATNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IEA,NAS 10751153
genes like me logo Genes that share ontologies with KATNB1: view
genes like me logo Genes that share phenotypes with KATNB1: view

Human Phenotype Ontology for KATNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KATNB1 Gene

MGI Knock Outs for KATNB1:

Animal Model Products

miRNA for KATNB1 Gene

miRTarBase miRNAs that target KATNB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KATNB1 Gene

Localization for KATNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KATNB1 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton. Note=Predominantly cytoplasmic. Localized to the interphase centrosome and mitotic spindle poles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KATNB1 Gene COMPARTMENTS Subcellular localization image for KATNB1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KATNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 colocalizes_with spindle pole IDA 10751153
GO:0005634 nucleus IDA 21630459
GO:0005874 microtubule IEA --
GO:0008352 katanin complex IEA,TAS 10751153
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with KATNB1: view

Pathways & Interactions for KATNB1 Gene

SuperPathways for KATNB1 Gene

No Data Available

Interacting Proteins for KATNB1 Gene

Gene Ontology (GO) - Biological Process for KATNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010976 positive regulation of neuron projection development IEA --
GO:0031117 positive regulation of microtubule depolymerization IMP 10751153
genes like me logo Genes that share ontologies with KATNB1: view

No data available for Pathways by source and SIGNOR curated interactions for KATNB1 Gene

Drugs & Compounds for KATNB1 Gene

(1) Drugs for KATNB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for KATNB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KATNB1: view

Transcripts for KATNB1 Gene

Unigene Clusters for KATNB1 Gene

Katanin p80 (WD repeat containing) subunit B 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KATNB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
SP1: - -
SP2: -
SP3: -
SP4:
SP5: -
SP6: -

Relevant External Links for KATNB1 Gene

GeneLoc Exon Structure for
KATNB1
ECgene alternative splicing isoforms for
KATNB1

Expression for KATNB1 Gene

mRNA expression in normal human tissues for KATNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KATNB1 Gene

This gene is overexpressed in Testis (17.6), Frontal cortex (13.6), Fetal Brain (9.5), and Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KATNB1 Gene



SOURCE GeneReport for Unigene cluster for KATNB1 Gene Hs.275675

genes like me logo Genes that share expression patterns with KATNB1: view

Protein tissue co-expression partners for KATNB1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KATNB1 Gene

Orthologs for KATNB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KATNB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KATNB1 35
  • 91.65 (n)
  • 96.79 (a)
KATNB1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KATNB1 35
  • 90.38 (n)
  • 96.34 (a)
KATNB1 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Katnb1 35
  • 89.36 (n)
  • 95.57 (a)
Katnb1 16
Katnb1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KATNB1 35
  • 99.34 (n)
  • 99.85 (a)
KATNB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Katnb1 35
  • 88.55 (n)
  • 95.11 (a)
oppossum
(Monodelphis domestica)
Mammalia KATNB1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KATNB1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KATNB1 35
  • 73.71 (n)
  • 78.71 (a)
KATNB1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KATNB1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia katnb1 35
  • 68.95 (n)
  • 76.76 (a)
Str.7139 35
African clawed frog
(Xenopus laevis)
Amphibia katnb1-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24204 35
katnb1 35
  • 66.15 (n)
  • 67.28 (a)
katnb1 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kat80 37
  • 36 (a)
kat80 35
  • 48.14 (n)
  • 37.98 (a)
kat80 36
  • 22 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000319 35
  • 52.3 (n)
  • 38.71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP46 36
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08390 35
  • 49.21 (n)
  • 44.83 (a)
rice
(Oryza sativa)
Liliopsida Os10g0494800 35
  • 48.85 (n)
  • 42.59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for KATNB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KATNB1 Gene

ENSEMBL:
Gene Tree for KATNB1 (if available)
TreeFam:
Gene Tree for KATNB1 (if available)

Paralogs for KATNB1 Gene

Paralogs for KATNB1 Gene

genes like me logo Genes that share paralogs with KATNB1: view

Variants for KATNB1 Gene

Sequence variations from dbSNP and Humsavar for KATNB1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs60158050 - 57,751,964(+) GCAAG(A/G)TGATG reference, missense
VAR_073319 Lissencephaly 6, with microcephaly (LIS6)
VAR_073320 Lissencephaly 6, with microcephaly (LIS6)
VAR_073321 Lissencephaly 6, with microcephaly (LIS6)
rs6994 -- 57,757,008(+) TCCTG(C/T)TCCTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KATNB1 Gene

Variant ID Type Subtype PubMed ID
nsv833246 CNV Loss 17160897
nsv457490 CNV Loss 19166990
nsv906729 CNV Loss 21882294
nsv525464 CNV Gain 19592680
nsv528250 CNV Loss 19592680
nsv509622 CNV Insertion 20534489
dgv2872n71 CNV Loss 21882294
nsv471089 CNV Loss 18288195
dgv2873n71 CNV Loss 21882294
dgv2874n71 CNV Loss 21882294
nsv103331 CNV Loss 16902084
esv2714544 CNV Deletion 23290073
esv1720905 CNV Deletion 17803354
nsv103302 CNV Loss 16902084
nsv817732 CNV Loss 17921354
nsv523237 CNV Loss 19592680

Variation tolerance for KATNB1 Gene

Residual Variation Intolerance Score: 9.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KATNB1 Gene

HapMap Linkage Disequilibrium report
KATNB1
Human Gene Mutation Database (HGMD)
KATNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KATNB1 Gene

Disorders for KATNB1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KATNB1 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 6, with microcephaly
  • lis6
lissencephaly
hereditary spastic paraplegia
  • familial spastic paraplegia
pachygyria
  • broad gyri of cerebrum
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KTNB1_HUMAN
  • Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. {ECO:0000269 PubMed:25521378, ECO:0000269 PubMed:25521379}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KATNB1

Genetic Association Database (GAD)
KATNB1
Human Genome Epidemiology (HuGE) Navigator
KATNB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KATNB1
genes like me logo Genes that share disorders with KATNB1: view

No data available for Genatlas for KATNB1 Gene

Publications for KATNB1 Gene

  1. Katanin, a microtubule-severing protein, is a novel AAA ATPase that targets to the centrosome using a WD40-containing subunit. (PMID: 9568719) Hartman J.J. … McNally F.J. (Cell 1998) 2 3 4 23 67
  2. The Cul3/Klhdc5 E3 ligase regulates p60/katanin and is required for normal mitosis in mammalian cells. (PMID: 19261606) Cummings C.M. … Singer J.D. (J. Biol. Chem. 2009) 3 23
  3. LAPSER1/LZTS2: a pluripotent tumor suppressor linked to the inhibition of katanin-mediated microtubule severing. (PMID: 18490357) Sudo H. … Maru Y. (Hum. Mol. Genet. 2008) 3 23
  4. Axonal growth is sensitive to the levels of katanin, a protein that severs microtubules. (PMID: 15215300) Karabay A. … Baas P.W. (J. Neurosci. 2004) 3 23
  5. Two domains of p80 katanin regulate microtubule severing and spindle pole targeting by p60 katanin. (PMID: 10751153) McNally K.P. … McNally F.J. (J. Cell Sci. 2000) 3 23

Products for KATNB1 Gene

Sources for KATNB1 Gene

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