Katnal2 katanin p60 subunit A-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Katnal2provided by MGI
Official Full Name: katanin p60 subunit A-like 2provided by MGI
Primary source: MGI:MGI:1924234
See related: Ensembl:ENSMUSG00000025420 AllianceGenome:MGI:1924234
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: 3110023G01Rik; 4933439B08Rik
Summary: Predicted to enable ATP hydrolysis activity. Predicted to be involved in microtubule severing. Predicted to be located in cytoplasm; microtubule; and spindle pole. Orthologous to human KATNAL2 (katanin catalytic subunit A1 like 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis adult (RPKM 8.9), CNS E11.5 (RPKM 2.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E3; 18 52.02 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (77063725..77135007, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (76976029..77047311, complement)

Chromosome 18 - NC_000084.7 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?

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Title: Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.
Title: Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.
Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
Title: Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
Authors present data suggesting that depending on context, KATNAL2 can partner with the regulatory protein KATNB1 or act autonomously. Data indicate KATNAL2 may regulate delta- and epsilon-tubulin rather than classical alpha-beta-tubulin microtubule polymers, suggesting the katanin family has a greater diversity of function than previously realised.
Title: Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse.
KATNAL2 isoforms interact with themselves, with each other and with Nubp1 and Nubp2.
Title: A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes 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 (6) 1 citation
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables microtubule severing ATPase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in microtubule severing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle	ISO Inferred from Sequence Orthology more info
located_in spindle	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: katanin p60 ATPase-containing subunit A-like 2

Names: p60 katanin-like 2

NP_001355584.1

EC 5.6.1.1

NP_001355585.1

EC 5.6.1.1

NP_001355586.1

EC 5.6.1.1

NP_081997.1

EC 5.6.1.1

XP_036017170.1

EC 5.6.1.1

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_001368655.1 → NP_001355584.1 katanin p60 ATPase-containing subunit A-like 2 isoform 1

Status: VALIDATED

Source sequence(s)

AC132608

Consensus CDS

CCDS89281.1

UniProtKB/Swiss-Prot

Q6NSQ2, Q9D3R6

UniProtKB/TrEMBL

A0A0E4HEY7

Related

ENSMUSP00000122079.2, ENSMUST00000126153.8

Conserved Domains (2) summary

smart00667
Location:25 → 55

LisH; Lissencephaly type-1-like homology motif

COG0464
Location:239 → 523

SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
NM_001368656.1 → NP_001355585.1 katanin p60 ATPase-containing subunit A-like 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC132608

UniProtKB/TrEMBL

A0A0E4D014

Related

ENSMUSP00000117495.2, ENSMUST00000137498.8

Conserved Domains (2) summary

smart00667
Location:25 → 55

LisH; Lissencephaly type-1-like homology motif

COG0464
Location:237 → 521

SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
NM_001368657.1 → NP_001355586.1 katanin p60 ATPase-containing subunit A-like 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC132608

UniProtKB/TrEMBL

A0A0E4HEY7

Conserved Domains (2) summary

smart00667
Location:6 → 36

LisH; Lissencephaly type-1-like homology motif

COG0464
Location:220 → 504

SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
NM_027721.2 → NP_081997.1 katanin p60 ATPase-containing subunit A-like 2 isoform 4

See identical proteins and their annotated locations for NP_081997.1

Status: PROVISIONAL

Source sequence(s)

AK017114

Consensus CDS

CCDS37865.1

UniProtKB/TrEMBL

D6RGM7

Related

ENSMUSP00000026486.7, ENSMUST00000026486.13

Conserved Domains (3) summary

smart00667
Location:25 → 55

LisH; Lissencephaly type-1-like homology motif

COG0464
Location:239 → 408

SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

pfam00004
Location:291 → 406

AAA; ATPase family associated with various cellular activities (AAA)

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_000084.7 Reference GRCm39 C57BL/6J

Range

77063725..77135007 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161277.1 → XP_036017170.1 katanin p60 ATPase-containing subunit A-like 2 isoform X1

UniProtKB/TrEMBL

D3Z0U5

Related

ENSMUSP00000118511.2, ENSMUST00000137354.8

Conserved Domains (2) summary

pfam17862
Location:228 → 266

AAA_lid_3; AAA+ lid domain

cd19509
Location:28 → 192

RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains