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KATNAL1 katanin catalytic subunit A1 like 1 [ Homo sapiens (human) ]

Gene ID: 84056, updated on 11-Apr-2024

Summary

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Official Symbol
KATNAL1provided by HGNC
Official Full Name
katanin catalytic subunit A1 like 1provided by HGNC
Primary source
HGNC:HGNC:28361
See related
Ensembl:ENSG00000102781 MIM:614764; AllianceGenome:HGNC:28361
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables identical protein binding activity and microtubule-severing ATPase activity. Involved in microtubule severing. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 4.9), brain (RPKM 4.4) and 24 other tissues See more
Orthologs
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Genomic context

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See KATNAL1 in Genome Data Viewer
Location:
13q12.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (30202630..30307551, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (29425152..29530029, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (30776767..30881688, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:30727396-30728595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7531 Neighboring gene long intergenic non-protein coding RNA 384 Neighboring gene long intergenic non-protein coding RNA 385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30752927-30753673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30753674-30754419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5227 Neighboring gene uncharacterized LOC102723381 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:30831661-30832161 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:30860016-30860638 Neighboring gene RNA, U6 small nuclear 64, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5229 Neighboring gene peroxiredoxin 2 pseudogene 1 Neighboring gene uncharacterized LOC124903145 Neighboring gene long intergenic non-protein coding RNA 427 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:30912012-30913211 Neighboring gene long intergenic non-protein coding RNA 426

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility. Cerván-Martín M, et al. Andrology, 2022 Oct. PMID 35752927, Free PMC Article
  2. Lack of association of KATNAL1 gene sequence variants and azoospermia in humans. Fedick AM, et al. J Assist Reprod Genet, 2014 Aug. PMID 24913027, Free PMC Article
  3. KL1 is a novel microtubule severing enzyme that regulates mitotic spindle architecture. Sonbuchner TM, et al. Cell Cycle, 2010 Jun 15. PMID 20519956
  4. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. Bartholdi D, et al. Am J Med Genet A, 2014 May. PMID 24664804
  5. Microtubule minus-end regulation at spindle poles by an ASPM-katanin complex. Jiang K, et al. Nat Cell Biol, 2017 May. PMID 28436967, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.
    Title: Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.
  2. microdeletion 13q12.3 represents a novel clinically recognizable condition and that the microtubule severing gene KATNAL1 and the chromatin-associated gene HMGB1 are candidate genes for intellectual disability inherited in an autosomal dominant pattern.
    Title: A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
  3. KATNAL1 gene sequence variants are not associated with azoospermia.
    Title: Lack of association of KATNAL1 gene sequence variants and azoospermia in humans.
  4. KL1-mediated microtubule severing is utilized to generate microtubule seeds within the poles and loss of this activity alters the normal balance of motor-generated forces that determine spindle length.
    Title: KL1 is a novel microtubule severing enzyme that regulates mitotic spindle architecture.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
EBI GWAS Catalog
Genetically distinct subsets within ANCA-associated vasculitis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2599

Gene Ontology Provided by GOA

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 identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic microtubule organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in microtubule severing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule severing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
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 
part_of katanin complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
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 p60 ATPase-containing subunit A-like 1
Names
katanin catalytic subunit A like 1
katanin p60 subunit A like 1
p60 katanin-like 1
NP_001014402.1
NP_115492.1
XP_005266631.1
XP_016876282.1
XP_024305191.1
XP_024305192.1
XP_047286659.1
XP_047286660.1

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)

  1. NM_001014380.3 → NP_001014402.1  katanin p60 ATPase-containing subunit A-like 1

    See identical proteins and their annotated locations for NP_001014402.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK097423, AL356750, BC000612
    Consensus CDS
    CCDS31956.1
    UniProtKB/Swiss-Prot
    A8K5X4, Q9BW62
    UniProtKB/TrEMBL
    B2RDY3, B3KUK7
    Related
    ENSP00000369991.3, ENST00000380617.7
    Conserved Domains (1) summary
    COG0464
    Location:188 → 483
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  2. NM_032116.5 → NP_115492.1  katanin p60 ATPase-containing subunit A-like 1

    See identical proteins and their annotated locations for NP_115492.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL356750, BC000612, DR006891
    Consensus CDS
    CCDS31956.1
    UniProtKB/Swiss-Prot
    A8K5X4, Q9BW62
    UniProtKB/TrEMBL
    B2RDY3, B3KUK7
    Related
    ENSP00000369989.3, ENST00000380615.8
    Conserved Domains (1) summary
    COG0464
    Location:188 → 483
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    30202630..30307551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449424.2 → XP_024305192.1  katanin p60 ATPase-containing subunit A-like 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K5X4, Q9BW62
    UniProtKB/TrEMBL
    B2RDY3, B3KUK7
    Conserved Domains (1) summary
    COG0464
    Location:188 → 483
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  2. XM_005266574.4 → XP_005266631.1  katanin p60 ATPase-containing subunit A-like 1 isoform X1

    See identical proteins and their annotated locations for XP_005266631.1

    UniProtKB/Swiss-Prot
    A8K5X4, Q9BW62
    UniProtKB/TrEMBL
    B2RDY3, B3KUK7
    Conserved Domains (1) summary
    COG0464
    Location:188 → 483
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  3. XM_024449423.2 → XP_024305191.1  katanin p60 ATPase-containing subunit A-like 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K5X4, Q9BW62
    UniProtKB/TrEMBL
    B2RDY3, B3KUK7
    Conserved Domains (1) summary
    COG0464
    Location:188 → 483
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  4. XM_047430703.1 → XP_047286659.1  katanin p60 ATPase-containing subunit A-like 1 isoform X1

    UniProtKB/Swiss-Prot
    A8K5X4, Q9BW62

  5. XM_047430704.1 → XP_047286660.1  katanin p60 ATPase-containing subunit A-like 1 isoform X2

  6. XM_017020793.3 → XP_016876282.1  katanin p60 ATPase-containing subunit A-like 1 isoform X2

    Conserved Domains (1) summary
    COG0464
    Location:20 → 315
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    29425152..29530029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BW62.1 GenPept UniProtKB/Swiss-Prot:Q9BW62

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