Human Gene KATNB1 (uc002eml.1) Description and Page Index
  Description: Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.
RefSeq Summary (NM_005886): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.921620.1, SRR1803612.485.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000379661.8/ ENSP00000368982.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:57,769,660-57,791,162 Size: 21,503 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr16:57,771,156-57,790,858 Size: 19,703 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:57,769,660-57,791,162)mRNA (may differ from genome)Protein (655 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: KTNB1_HUMAN
DESCRIPTION: RecName: Full=Katanin p80 WD40 repeat-containing subunit B1; Short=Katanin p80 subunit B1; AltName: Full=p80 katanin;
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 (By similarity).
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton. Note=Predominantly cytoplasmic. Localized to the interphase centrosome and mitotic spindle poles.
SIMILARITY: Belongs to the WD repeat KATNB1 family.
SIMILARITY: Contains 6 WD repeats.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KATNB1
CDC HuGE Published Literature: KATNB1
Positive Disease Associations: Basophils
Related Studies:
  1. Basophils
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: KATNB1
Diseases sorted by gene-association score: lissencephaly 6, with microcephaly* (1229), microlissencephaly* (350), anus disease (11), lissencephaly (8), rectal disease (8), hereditary spastic paraplegia (6), pachygyria (5), growth hormone deficiency, isolated, type ia (4), microcephaly (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.82 RPKM in Testis
Total median expression: 538.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -159.90374-0.428 Picture PostScript Text
3' UTR -111.40304-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020472 - G-protein_beta_WD-40_rep
IPR026962 - Katanin_bsu1
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF12894 - Anaphase-promoting complex subunit 4 WD40 domain
PF13925 - con80 domain of Katanin

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9BVA0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0046982 protein heterodimerization activity
GO:0070840 dynein complex binding
GO:0008568 microtubule-severing ATPase activity

Biological Process:
GO:0006605 protein targeting
GO:0007026 negative regulation of microtubule depolymerization
GO:0007049 cell cycle
GO:0010942 positive regulation of cell death
GO:0010976 positive regulation of neuron projection development
GO:0031117 positive regulation of microtubule depolymerization
GO:0051013 microtubule severing
GO:0051301 cell division

Cellular Component:
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0008352 katanin complex
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0030424 axon
GO:0030426 growth cone
GO:0030496 midbody
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  LF384430 - JP 2014500723-A/191933: Polycomb-Associated Non-Coding RNAs.
AB209250 - Homo sapiens mRNA for katanin p80 subunit B 1 variant protein.
AF052432 - Homo sapiens katanin p80 subunit mRNA, complete cds.
BC001353 - Homo sapiens katanin p80 (WD repeat containing) subunit B 1, mRNA (cDNA clone MGC:8689 IMAGE:2964632), complete cds.
KJ898190 - Synthetic construct Homo sapiens clone ccsbBroadEn_07584 KATNB1 gene, encodes complete protein.
CR456762 - Homo sapiens full open reading frame cDNA clone RZPDo834D024D for gene KATNB1, katanin p80 (WD repeat containing) subunit B 1; complete cds, incl. stopcodon.
DQ890767 - Synthetic construct clone IMAGE:100003397; FLH165786.01X; RZPDo839G09160D katanin p80 (WD repeat containing) subunit B 1 (KATNB1) gene, encodes complete protein.
BT007022 - Homo sapiens katanin p80 (WD40-containing) subunit B 1 mRNA, complete cds.
JD322679 - Sequence 303703 from Patent EP1572962.
JD104486 - Sequence 85510 from Patent EP1572962.
JD367976 - Sequence 349000 from Patent EP1572962.
JD377522 - Sequence 358546 from Patent EP1572962.
JD088229 - Sequence 69253 from Patent EP1572962.
JD443666 - Sequence 424690 from Patent EP1572962.
JD537154 - Sequence 518178 from Patent EP1572962.
JD192553 - Sequence 173577 from Patent EP1572962.
JD133690 - Sequence 114714 from Patent EP1572962.
JD095653 - Sequence 76677 from Patent EP1572962.
JD418738 - Sequence 399762 from Patent EP1572962.
MA620007 - JP 2018138019-A/191933: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NCG6, KTNB1_HUMAN, NM_005886, NP_005877, O60620, Q9BVA0
UCSC ID: uc002eml.1
RefSeq Accession: NM_005886
Protein: Q9BVA0 (aka KTNB1_HUMAN)
CCDS: CCDS10788.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005886.2
exon count: 20CDS single in 3' UTR: no RNA size: 2661
ORF size: 1968CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3896.50frame shift in genome: no % Coverage: 99.44
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.