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Aliases for KATNB1 Gene

Aliases for KATNB1 Gene

  • Katanin Regulatory Subunit B1 2 3 5
  • Katanin P80 (WD Repeat Containing) Subunit B 1 2 3
  • Katanin P80 (WD40-Containing) Subunit B 1 2 3
  • Katanin P80 Subunit B1 3 4
  • P80 Katanin 3 4
  • Katanin P80 WD40 Repeat-Containing Subunit B1 3
  • 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 Microlissencephaly. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is POC1B.

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

Additional gene information for KATNB1 Gene

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

Genomics for KATNB1 Gene

GeneHancer (GH) Regulatory Elements for KATNB1 Gene

Promoters and enhancers for KATNB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I057734 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.6 622 3.8 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B KATNB1 RSPRY1 CNOT1 SETD6 ADGRG1 CSNK2A2 CNGB1 DRC7 LOC101927556 GC16M057746
GH16I057645 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -88.3 -88274 4.7 HDGF FOXA2 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 IRF4 SLC30A9 ADGRG1 KATNB1 RSPRY1 CNOT1 POLR2C ADGRG5 CFAP20 GC16M057649 GC16P057639
GH16I057700 Enhancer 1.1 ENCODE dbSUPER 13.4 -34.4 -34447 1.7 HDAC1 ELF3 HDGF PKNOX1 ATF1 DMAP1 THRB ZNF335 TCF12 CREM ENSG00000260467 KATNB1 DRC7 ADGRG3 ADGRG1
GH16I057642 Enhancer 1 Ensembl ENCODE dbSUPER 12.1 -92.4 -92374 2.6 ZSCAN4 CEBPB ZMYM3 NONO ZNF239 MYNN RCOR1 ATF7 PRDM10 PRDM4 CNOT1 KATNB1 RSPRY1 POLR2C CNGB1 ADGRG1 GC16P057639 GC16M057649
GH16I057684 Enhancer 0.8 FANTOM5 12 -52.4 -52415 0.3 PKNOX1 SMAD1 NFATC3 GTF2E2 CDC5L POLR2B ZNF316 POLR2A NCOR1 ETV6 RSPRY1 CNOT1 ADGRG1 KATNB1 POLR2C ADGRG3 ZNF319 FAM192A DRC7 ENSG00000260467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KATNB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KATNB1 gene promoter:

Genomic Locations for KATNB1 Gene

Genomic Locations for KATNB1 Gene
chr16:57,735,720-57,757,250
(GRCh38/hg38)
Size:
21,531 bases
Orientation:
Plus strand
chr16:57,769,642-57,791,162
(GRCh37/hg19)

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 (PubMed:10751153, PubMed:26929214). This interaction enhances the microtubule binding and severing activity of KATNA1 and also targets this activity to the centrosome (PubMed:10751153). This interaction is weakly competed by KATNBL1 which has a lower affinity for it (PubMed:26929214). Interacts with ASPM; the katanin complex formation KATNA1:KATNB1 is required for the association of ASPM (By similarity). Interacts with dynein, microtubules and NDEL1 (PubMed:16203747). Interacts with KATNAL1; this interaction is weakly competed by KATNBL1 which has a lower affinity for it (PubMed:26929214). Interacts with CAMSAP2 and CAMSAP3; leading to regulate the length of CAMSAP-decorated microtubule stretches (PubMed:24486153).

neXtProt entry for KATNB1 Gene

Post-translational modifications for KATNB1 Gene

No data available for DME Specific Peptides for KATNB1 Gene

Domains & Families for KATNB1 Gene

Gene Families for KATNB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
Family:
  • Belongs to the WD repeat KATNB1 family.
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:0005515 protein binding IPI 24486153
GO:0008017 microtubule binding NAS 10751153
GO:0008568 contributes_to microtubule-severing ATPase activity IDA 10751153
GO:0046982 protein heterodimerization activity IPI 10751153
GO:0070840 dynein complex binding IEA --
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:

miRNA for KATNB1 Gene

miRTarBase miRNAs that target KATNB1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Cytoplasm, cytoskeleton, spindle. Note=Predominantly cytoplasmic. Localized to the interphase centrosome and mitotic spindle poles (PubMed:9658175). Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214). {ECO:0000269 PubMed:26929214, ECO:0000269 PubMed:9658175}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KATNB1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubules (3)
  • Plasma membrane (2)
See all subcellular structures

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 HDA,IDA 21630459
GO:0005737 cytoplasm IDA,IEA 10751153
GO:0005813 centrosome IEA --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with KATNB1: view

Pathways & Interactions for KATNB1 Gene

SuperPathways for KATNB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KATNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting NAS 10751153
GO:0007026 negative regulation of microtubule depolymerization IMP 10751153
GO:0007049 cell cycle IEA --
GO:0010942 positive regulation of cell death IEA --
GO:0010976 positive regulation of neuron projection development IEA --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for KATNB1 Gene



Protein tissue co-expression partners for KATNB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KATNB1 Gene:

KATNB1

SOURCE GeneReport for Unigene cluster for KATNB1 Gene:

Hs.275675

Evidence on tissue expression from TISSUES for KATNB1 Gene

  • Muscle(4.2)
  • Nervous system(3.9)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KATNB1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • face
  • forehead
  • head
  • skull
genes like me logo Genes that share expression patterns with KATNB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia KATNB1 33 34
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia KATNB1 33 34
  • 91.65 (n)
dog
(Canis familiaris)
Mammalia KATNB1 33 34
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Katnb1 33 16 34
  • 89.36 (n)
rat
(Rattus norvegicus)
Mammalia Katnb1 33
  • 88.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KATNB1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KATNB1 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves KATNB1 33 34
  • 73.71 (n)
lizard
(Anolis carolinensis)
Reptilia KATNB1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia katnb1 33
  • 68.95 (n)
Str.7139 33
African clawed frog
(Xenopus laevis)
Amphibia katnb1-prov 33
zebrafish
(Danio rerio)
Actinopterygii katnb1 33 34
  • 66.15 (n)
Dr.24204 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000319 33
  • 52.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta kat80 35 33 34
  • 48.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP46 34
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08390 33
  • 49.21 (n)
rice
(Oryza sativa)
Liliopsida Os10g0494800 33
  • 48.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Species where no ortholog for KATNB1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs730880257 pathogenic, Lissencephaly 6, with microcephaly, Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] 57,755,878(+) C/T coding_sequence_variant, missense_variant
rs730880258 pathogenic, Lissencephaly 6, with microcephaly, Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] 57,755,893(+) T/G coding_sequence_variant, missense_variant
rs730880259 pathogenic, Lissencephaly 6, with microcephaly, Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] 57,741,743(+) G/A/T coding_sequence_variant, missense_variant
rs879255517 pathogenic, Lissencephaly 6, with microcephaly 57,751,654(+) CC/C coding_sequence_variant, frameshift
rs879255518 pathogenic, Lissencephaly 6, with microcephaly 57,737,244(+) A/G initiator_codon_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv1720905 CNV deletion 17803354
esv2714544 CNV deletion 23290073
nsv103302 CNV deletion 16902084
nsv103331 CNV deletion 16902084
nsv1127504 CNV deletion 24896259
nsv457490 CNV loss 19166990
nsv471089 CNV loss 18288195
nsv509622 CNV insertion 20534489
nsv523237 CNV loss 19592680
nsv525464 CNV gain 19592680
nsv528250 CNV loss 19592680
nsv572724 CNV loss 21841781
nsv817732 CNV loss 17921354
nsv833246 CNV loss 17160897
nsv952038 CNV deletion 24416366

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)

Additional Variant Information for KATNB1 Gene

Human Gene Mutation Database (HGMD)
KATNB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KATNB1

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

Disorders for KATNB1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KATNB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 6 with microcephaly
  • lis6
microlissencephaly
anus disease
  • anal disease
lissencephaly
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.

Additional Disease Information for KATNB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JJ … McNally FJ (Cell 1998) 2 3 4 22 58
  2. Two domains of p80 katanin regulate microtubule severing and spindle pole targeting by p60 katanin. (PMID: 10751153) McNally KP … McNally FJ (Journal of cell science 2000) 3 4 22 58
  3. Katanin is responsible for the M-phase microtubule-severing activity in Xenopus eggs. (PMID: 9658175) McNally FJ … Thomas S (Molecular biology of the cell 1998) 3 4 22 58
  4. Proteomic Analysis of the Mammalian Katanin Family of Microtubule-severing Enzymes Defines Katanin p80 subunit B-like 1 (KATNBL1) as a Regulator of Mammalian Katanin Microtubule-severing. (PMID: 26929214) Cheung K … Torres JZ (Molecular & cellular proteomics : MCP 2016) 3 4 58
  5. Katanin p80 regulates human cortical development by limiting centriole and cilia number. (PMID: 25521379) Hu WF … Walsh CA (Neuron 2014) 3 4 58

Products for KATNB1 Gene

Sources for KATNB1 Gene

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