Katnb1 katanin p80 (WD40-containing) subunit B 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Katnb1provided by MGI
Official Full Name: katanin p80 (WD40-containing) subunit B 1provided by MGI
Primary source: MGI:MGI:1921437
See related: Ensembl:ENSMUSG00000031787 AllianceGenome:MGI:1921437
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: KAT; 2410003J24Rik
Summary: Enables dynein complex binding activity. Predicted to be involved in several processes, including microtubule cytoskeleton organization; positive regulation of neuron projection development; and regulation of microtubule depolymerization. Predicted to act upstream of or within cell division. Located in axon and centrosome. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and primitive streak. Human ortholog(s) of this gene implicated in lissencephaly 6. Orthologous to human KATNB1 (katanin regulatory subunit B1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 79.1), whole brain E14.5 (RPKM 14.9) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C5; 8 47.12 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (95807804..95826502)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (95081175..95099874)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KATNB1 is a master regulator of multiple katanin enzymes in male meiosis and haploid germ cell development.
Title: KATNB1 is a master regulator of multiple katanin enzymes in male meiosis and haploid germ cell development.
Study uncovered an unexpected role of the p60-MIT and p80-CTD domains of katanin in the oligomerization and regulation of the protein. p80-CTD mediates the assembly of p60-MIT:p80-CTD heterodimers into heterotetramers that have an impact on katanin MT end and lattice binding as well as on the severing activity of the enzyme. The heterotetrameric structure of the p60-MIT:p80-CTD K555A/R591A mutant revealed a domain swap.
Title: Crystal Structure of a Heterotetrameric Katanin p60:p80 Complex.
This study structurally and functionally characterized the interaction between the two katanin subunits that is mediated by the p60-MIT domain and the p80 C-terminal domain (p80-CTD). p60-MIT and p80-CTD form a tight heterodimeric complex, whose high-resolution structure was determined by X-ray crystallography.
Title: Structural basis of katanin p60:p80 complex formation.
Katnb1 is ubiquitously expressed during embryonic development, although a stronger expression is seen in the crown cells of the gastrulation organizer, the murine node. Furthermore, null and hypomorphic Katnb1 gene mutations show a novel correlation between Katnb1 dysregulation and the development of impaired left-right signaling, including cardiac malformations.
Title: Mutations in the Katnb1 gene cause left-right asymmetry and heart defects.
Collectively these data demonstrate that katanin p80 serves an essential and evolutionarily conserved role in several aspects of male germ cell development
Title: An essential role for katanin p80 and microtubule severing in male gamete production.
Cul3-deficient cells or Ctb9/KLHDC5-deficient cells show an increase in p60/katanin levels, indicating that Cul3/Ctb9/KLHDC5 is required for efficient p60/katanin removal
Title: The Cul3/Klhdc5 E3 ligase regulates p60/katanin and is required for normal mitosis in mammalian cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI325457 (e-PCR)
- UniSTS:159795

KATNB1 (e-PCR)
- UniSTS:278589

BB123200 (e-PCR)
- UniSTS:185767

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase regulator activity	ISO Inferred from Sequence Orthology more info
enables dynein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
involved_in microtubule depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule severing	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
part_of katanin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of katanin complex	ISO Inferred from Sequence Orthology more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in spindle	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: katanin p80 WD40 repeat-containing subunit B1

Names: katanin p80 subunit B1; p80 katanin

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)

NM_028805.2 → NP_083081.2 katanin p80 WD40 repeat-containing subunit B1

See identical proteins and their annotated locations for NP_083081.2

Status: VALIDATED

Source sequence(s)

AK031630, AK034103, AK136322, BB842538

Consensus CDS

CCDS22555.1

UniProtKB/Swiss-Prot

Q8BG40, Q8CD18, Q8R1J0, Q9CWV2

Related

ENSMUSP00000034239.8, ENSMUST00000034239.9

Conserved Domains (4) summary

cd00200
Location:7 → 257

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:67 → 103

7WD40; WD40 repeat [structural motif]

pfam02063
Location:367 → 465

MARCKS; MARCKS family

pfam13925
Location:500 → 651

Katanin_con80; con80 domain of Katanin

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

NC_000074.7 Reference GRCm39 C57BL/6J

Range

95807804..95826502

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531411.5 → XP_006531474.1 katanin p80 WD40 repeat-containing subunit B1 isoform X1

See identical proteins and their annotated locations for XP_006531474.1

UniProtKB/Swiss-Prot

Q8BG40, Q8CD18, Q8R1J0, Q9CWV2

Conserved Domains (4) summary

cd00200
Location:7 → 257

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:67 → 103

7WD40; WD40 repeat [structural motif]

pfam02063
Location:367 → 465

MARCKS; MARCKS family

pfam13925
Location:500 → 651

Katanin_con80; con80 domain of Katanin
XM_006531412.1 → XP_006531475.1 katanin p80 WD40 repeat-containing subunit B1 isoform X1

See identical proteins and their annotated locations for XP_006531475.1

UniProtKB/Swiss-Prot

Q8BG40, Q8CD18, Q8R1J0, Q9CWV2

Conserved Domains (4) summary

cd00200
Location:7 → 257

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:67 → 103

7WD40; WD40 repeat [structural motif]

pfam02063
Location:367 → 465

MARCKS; MARCKS family

pfam13925
Location:500 → 651

Katanin_con80; con80 domain of Katanin
XM_006531410.4 → XP_006531473.1 katanin p80 WD40 repeat-containing subunit B1 isoform X1

See identical proteins and their annotated locations for XP_006531473.1

UniProtKB/Swiss-Prot

Q8BG40, Q8CD18, Q8R1J0, Q9CWV2

Conserved Domains (4) summary

cd00200
Location:7 → 257

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:67 → 103

7WD40; WD40 repeat [structural motif]

pfam02063
Location:367 → 465

MARCKS; MARCKS family

pfam13925
Location:500 → 651

Katanin_con80; con80 domain of Katanin