KATNB1 katanin regulatory subunit B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KATNB1provided by HGNC
Official Full Name: katanin regulatory subunit B1provided by HGNC
Primary source: HGNC:HGNC:6217
See related: Ensembl:ENSG00000140854 MIM:602703; AllianceGenome:HGNC:6217
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KAT; LIS6
Summary: 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]
Expression: Broad expression in testis (RPKM 14.6), brain (RPKM 7.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (57735770..57757244)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (63530976..63552401)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (57769682..57791156)

Chromosome 16 - NC_000016.10 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Title: Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Katanin P60 and P80 in papillary thyroid carcinoma patients: Indicators for exacerbated tumor features and worse disease-free survival.
Title: Katanin P60 and P80 in papillary thyroid carcinoma patients: Indicators for exacerbated tumor features and worse disease-free survival.
WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation.
Title: WDR62 localizes katanin at spindle poles to ensure synchronous chromosome segregation.
Katanin P80 correlates with larger tumor size, lymph node metastasis, and advanced TNM stage and predicts poor prognosis in non-small-cell lung cancer patients.
Title: Katanin P80 correlates with larger tumor size, lymph node metastasis, and advanced TNM stage and predicts poor prognosis in non-small-cell lung cancer patients.
Katanin P80 expression positively correlated with lymph node metastasis and could abe a novel biomarker for prognosis in breast cancer patients.
Title: Katanin P80 expression correlates with lymph node metastasis and worse overall survival in patients with breast cancer.
these findings provide valuable insights into the pathogenesis of severe microlissencephaly, in which p80 and NuMA delineate a common pathway for neurogenesis and neuronal migration via microtubule organization at the centrosome/spindle pole
Title: Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics.
ASPM-katanin complex controls microtubule disassembly at spindle poles and that misregulation of this process can lead to microcephaly.
Title: Microtubule minus-end regulation at spindle poles by an ASPM-katanin complex.
Results indicate that microtubule-severing is complex and likely regulated by the concerted action of KATNB1 and KATNBL1.
Title: 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.
The localization of KATNB1 in early round spermatids suggests an involvement in the formation of microtubule-based structures during spermiogenesis (manchette and flagellum).
Title: Expression of katanin p80 in human spermatogenesis.
results suggest that variants in the KATNB1 gene are not commonly associated with OAT infertility in Australian men
Title: KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lissencephaly 6 with microcephaly MedGen: C4015525 OMIM: 616212 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91922 (e-PCR)
- UniSTS:87403

SHGC-80725 (e-PCR)
- UniSTS:102259

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables dynein complex binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cytoplasmic microtubule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in microtubule depolymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule severing	IEA Inferred from Electronic Annotation more info
involved_in mitotic chromosome movement towards spindle pole	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of microtubule depolymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in protein targeting	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
part_of katanin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of katanin complex	IDA Inferred from Direct Assay more info	PubMed
part_of katanin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of katanin complex	ISS Inferred from Sequence or Structural Similarity more info
part_of katanin complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in microtubule cytoskeleton	NAS Non-traceable Author Statement more info	PubMed
located_in midbody	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: katanin p80 WD40 repeat-containing subunit B1

Names: katanin (80 kDa); katanin p80 (WD repeat containing) subunit B 1; katanin p80 (WD40-containing) subunit B 1; katanin p80 WD40-containing subunit B1; 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.

Genomic

NG_046947.1 RefSeqGene

Range

5051..26525

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005886.3 → NP_005877.2 katanin p80 WD40 repeat-containing subunit B1

See identical proteins and their annotated locations for NP_005877.2

Status: REVIEWED

Source sequence(s)

AF052432, BC001353, BU501165

Consensus CDS

CCDS10788.1

UniProtKB/Swiss-Prot

A6NCG6, O60620, Q9BVA0

Related

ENSP00000368982.3, ENST00000379661.8

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]

pfam13925
Location:497 → 648

Katanin_con80; con80 domain of Katanin

cl26386
Location:386 → 494

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III