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    KATNAL2 katanin catalytic subunit A1 like 2 [ Homo sapiens (human) ]

    Gene ID: 83473, updated on 11-Apr-2024

    Summary

    Official Symbol
    KATNAL2provided by HGNC
    Official Full Name
    katanin catalytic subunit A1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:25387
    See related
    Ensembl:ENSG00000167216 MIM:614697; AllianceGenome:HGNC:25387
    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
    Predicted to enable microtubule-severing ATPase activity. Predicted to be involved in cytoplasmic microtubule organization. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 2.3), thyroid (RPKM 1.9) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    18q21.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46917594..47102243)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47108258..47292540)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44497557..44628614)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene protein inhibitor of activated STAT 2 Neighboring gene ubiquitin specific peptidase 4 (proto-oncogene) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:44447848-44449047 Neighboring gene uncharacterized LOC124904294 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:44479065-44479890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44490867-44491368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44491369-44491868 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:44496866-44497619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44499127-44499879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44546997-44547496 Neighboring gene elongin A3 family member D, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44553169-44553932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44552405-44553168 Neighboring gene MPRA-validated peak3137 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44554945-44555448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44555449-44555951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44555952-44556454 Neighboring gene elongin A3 family member B, pseudogene Neighboring gene elongin A2 Neighboring gene uncharacterized LOC105372098 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:44626710-44626922 Neighboring gene small ubiquitin-related modifier 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44665671-44666170 Neighboring gene haloacid dehalogenase like hydrolase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13285 Neighboring gene immediate early response 3 interacting protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-11-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2018-11-28)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies for personality.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC33211, DKFZp667C165

    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 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
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of katanin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    Preferred Names
    katanin p60 ATPase-containing subunit A-like 2
    Names
    katanin catalytic subunit A like 2
    katanin p60 subunit A like 2
    p60 katanin-like 2
    NP_001340828.1
    NP_001340829.1
    NP_001340830.1
    NP_001340831.1
    NP_001340832.1
    NP_001340833.1
    NP_001340834.1
    NP_001340835.1
    NP_001340836.1
    NP_001340837.1
    NP_001340838.1
    NP_001354550.1
    NP_001374619.1
    NP_112593.2
    XP_005258418.1
    XP_011524521.1
    XP_011524522.1
    XP_011524523.1
    XP_011524525.1
    XP_016881520.1
    XP_047293833.1
    XP_047293834.1
    XP_047293835.1
    XP_047293836.1
    XP_054175218.1
    XP_054175219.1
    XP_054175220.1
    XP_054175221.1
    XP_054175222.1
    XP_054175223.1
    XP_054175224.1
    XP_054175225.1
    XP_054175226.1
    XP_054175227.1

    NCBI Reference Sequences (RefSeq)

    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_001353899.1NP_001340828.1  katanin p60 ATPase-containing subunit A-like 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373, CA311572
      Conserved Domains (2) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      COG0464
      Location:264559
      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_001353900.1NP_001340829.1  katanin p60 ATPase-containing subunit A-like 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373, CA311572
      Conserved Domains (2) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      COG0464
      Location:263558
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    3. NM_001353901.1NP_001340830.1  katanin p60 ATPase-containing subunit A-like 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      UniProtKB/TrEMBL
      A0A8I5QL41
      Conserved Domains (2) summary
      smart00667
      Location:2555
      LisH; Lissencephaly type-1-like homology motif
      COG0464
      Location:238426
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    4. NM_001353902.1NP_001340831.1  katanin p60 ATPase-containing subunit A-like 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      UniProtKB/TrEMBL
      A0A8I5QL41
      Related
      ENSP00000510745.1, ENST00000686215.1
      Conserved Domains (2) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      COG0464
      Location:152419
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    5. NM_001353903.1NP_001340832.1  katanin p60 ATPase-containing subunit A-like 2 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373, CA311572
      Consensus CDS
      CCDS92457.1
      UniProtKB/TrEMBL
      K7EIJ8
      Conserved Domains (1) summary
      COG0464
      Location:127422
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    6. NM_001353904.1NP_001340833.1  katanin p60 ATPase-containing subunit A-like 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373, CA311572
      Conserved Domains (1) summary
      COG0464
      Location:15389
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    7. NM_001353905.1NP_001340834.1  katanin p60 ATPase-containing subunit A-like 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      Conserved Domains (1) summary
      COG0464
      Location:127315
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    8. NM_001353906.1NP_001340835.1  katanin p60 ATPase-containing subunit A-like 2 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      Conserved Domains (1) summary
      COG0464
      Location:127315
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    9. NM_001353907.1NP_001340836.1  katanin p60 ATPase-containing subunit A-like 2 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      UniProtKB/TrEMBL
      A0A8I5KR90
      Related
      ENSP00000509033.1, ENST00000687291.1
      Conserved Domains (1) summary
      COG0464
      Location:127293
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    10. NM_001353908.1NP_001340837.1  katanin p60 ATPase-containing subunit A-like 2 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      Consensus CDS
      CCDS92458.1
      UniProtKB/TrEMBL
      K7EPQ6
      Related
      ENSP00000467488.2, ENST00000591522.2
      Conserved Domains (1) summary
      COG0464
      Location:15282
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    11. NM_001353909.1NP_001340838.1  katanin p60 ATPase-containing subunit A-like 2 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      Conserved Domains (1) summary
      COG0464
      Location:15259
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    12. NM_001367621.1NP_001354550.1  katanin p60 ATPase-containing subunit A-like 2 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      Consensus CDS
      CCDS92456.1
      UniProtKB/Swiss-Prot
      Q8IYT4
      Related
      ENSP00000348478.6, ENST00000356157.12
      Conserved Domains (3) summary
      smart00667
      Location:2555
      LisH; Lissencephaly type-1-like homology motif
      pfam17862
      Location:450494
      AAA_lid_3; AAA+ lid domain
      cd19509
      Location:256420
      RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains
    13. NM_001387690.1NP_001374619.1  katanin p60 ATPase-containing subunit A-like 2 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373
      Consensus CDS
      CCDS92456.1
      UniProtKB/Swiss-Prot
      Q8IYT4
      Related
      ENSP00000508137.1, ENST00000683218.1
      Conserved Domains (3) summary
      smart00667
      Location:2555
      LisH; Lissencephaly type-1-like homology motif
      pfam17862
      Location:450494
      AAA_lid_3; AAA+ lid domain
      cd19509
      Location:256420
      RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains
    14. NM_031303.3NP_112593.2  katanin p60 ATPase-containing subunit A-like 2 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC012254, BC034999, BI561067, CA311572, CN303333
      Consensus CDS
      CCDS32828.1
      UniProtKB/Swiss-Prot
      Q8IYT4
      Related
      ENSP00000245121.4, ENST00000245121.10
      Conserved Domains (2) summary
      cd19509
      Location:184348
      RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains
      pfam17862
      Location:378422
      AAA_lid_3; AAA+ lid domain

    RNA

    1. NR_148563.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012254, AC090373, CA311572

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      46917594..47102243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437879.1XP_047293835.1  katanin p60 ATPase-containing subunit A-like 2 isoform X5

    2. XM_011526220.3XP_011524522.1  katanin p60 ATPase-containing subunit A-like 2 isoform X3

      UniProtKB/TrEMBL
      A0A8I5QL41
      Conserved Domains (3) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      smart00382
      Location:312448
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:316429
      AAA; ATPase family associated with various cellular activities (AAA)
    3. XM_047437880.1XP_047293836.1  katanin p60 ATPase-containing subunit A-like 2 isoform X6

    4. XM_047437878.1XP_047293834.1  katanin p60 ATPase-containing subunit A-like 2 isoform X4

    5. XM_011526221.4XP_011524523.1  katanin p60 ATPase-containing subunit A-like 2 isoform X7

      UniProtKB/TrEMBL
      A0A8I5QL41
      Conserved Domains (3) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      smart00382
      Location:312441
      AAA; ATPases associated with a variety of cellular activities
      pfam00004
      Location:316431
      AAA; ATPase family associated with various cellular activities (AAA)
    6. XM_011526223.4XP_011524525.1  katanin p60 ATPase-containing subunit A-like 2 isoform X8

      UniProtKB/TrEMBL
      A0A8I5QL41
      Conserved Domains (3) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      COG0464
      Location:264429
      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:316429
      AAA; ATPase family associated with various cellular activities (AAA)
    7. XM_011526219.4XP_011524521.1  katanin p60 ATPase-containing subunit A-like 2 isoform X1

      Conserved Domains (3) summary
      smart00667
      Location:5181
      LisH; Lissencephaly type-1-like homology motif
      COG0464
      Location:264429
      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:316429
      AAA; ATPase family associated with various cellular activities (AAA)
    8. XM_047437877.1XP_047293833.1  katanin p60 ATPase-containing subunit A-like 2 isoform X2

    9. XM_017026031.2XP_016881520.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

      UniProtKB/TrEMBL
      K7EIJ8
      Conserved Domains (1) summary
      COG0464
      Location:127422
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    10. XM_005258361.4XP_005258418.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

      UniProtKB/TrEMBL
      K7EIJ8
      Related
      ENSP00000464779.2, ENST00000588433.6
      Conserved Domains (1) summary
      COG0464
      Location:127422
      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_060942.1 Alternate T2T-CHM13v2.0

      Range
      47108258..47292540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319247.1XP_054175222.1  katanin p60 ATPase-containing subunit A-like 2 isoform X5

    2. XM_054319245.1XP_054175220.1  katanin p60 ATPase-containing subunit A-like 2 isoform X3

    3. XM_054319248.1XP_054175223.1  katanin p60 ATPase-containing subunit A-like 2 isoform X6

    4. XM_054319246.1XP_054175221.1  katanin p60 ATPase-containing subunit A-like 2 isoform X4

    5. XM_054319249.1XP_054175224.1  katanin p60 ATPase-containing subunit A-like 2 isoform X7

    6. XM_054319250.1XP_054175225.1  katanin p60 ATPase-containing subunit A-like 2 isoform X8

    7. XM_054319243.1XP_054175218.1  katanin p60 ATPase-containing subunit A-like 2 isoform X1

    8. XM_054319244.1XP_054175219.1  katanin p60 ATPase-containing subunit A-like 2 isoform X2

    9. XM_054319252.1XP_054175227.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

      UniProtKB/TrEMBL
      K7EIJ8
    10. XM_054319251.1XP_054175226.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

      UniProtKB/TrEMBL
      K7EIJ8