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

    Gene ID: 84056, updated on 27-Nov-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. Part of katanin complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 4.9), brain (RPKM 4.4) and 24 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (30202630..30307551, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (29425152..29530029, complement)
    RS_2024_09 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. KL1 is a novel microtubule severing enzyme that regulates mitotic spindle architecture. Sonbuchner TM, et al. Cell Cycle, 2010 Jun 15. PMID 20519956
    3. 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
    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. Ab initio protein modelling reveals novel human MIT domains. Rigden DJ, et al. FEBS Lett, 2009 Mar 4. PMID 19302785

    See all (35) 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)

    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 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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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