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

Gene ID: 83473, updated on 25-Nov-2021

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
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
Expression
Broad expression in testis (RPKM 2.3), thyroid (RPKM 1.9) and 23 other tissues See more
Orthologs
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Genomic context

See KATNAL2 in Genome Data Viewer
Location:
18q21.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (46917550..47104795)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44497557..44628614)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 Neighboring gene ST8SIA5 divergent transcript Neighboring gene ubiquitin specific peptidase 4 (proto-oncogene) pseudogene Neighboring gene protein inhibitor of activated STAT 2 Neighboring gene elongin A3 family member D, pseudogene Neighboring gene elongin A3 family member B, pseudogene Neighboring gene elongin A3, pseudogene Neighboring gene uncharacterized LOC105372098 Neighboring gene elongin A2 Neighboring gene small ubiquitin-related modifier 2 pseudogene Neighboring gene haloacid dehalogenase like hydrolase domain containing 2 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

Associated conditions

Description Tests
Meta-analysis of genome-wide association studies for personality.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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 microtubule severing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in microtubule IDA
Inferred from Direct Assay
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_016881517.1
XP_016881519.1
XP_016881520.1

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_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
    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
    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
    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
    Related
    ENSP00000464779.1, ENST00000588433.5
    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
    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
    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
    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
    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, ENST00000245121.9
    Conserved Domains (2) summary
    smart00382
    Location:214351
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:218350
    AAA; ATPase family associated with various cellular activities (AAA)

RNA

  1. NR_148563.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373, CA311572

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    46917550..47104795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026028.2XP_016881517.1  katanin p60 ATPase-containing subunit A-like 2 isoform X3

  2. XM_017026030.2XP_016881519.1  katanin p60 ATPase-containing subunit A-like 2 isoform X6

    Conserved Domains (2) summary
    smart00382
    Location:213350
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:217349
    AAA; ATPase family associated with various cellular activities (AAA)
  3. XM_011526220.2XP_011524522.1  katanin p60 ATPase-containing subunit A-like 2 isoform X4

    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)
  4. XM_011526223.3XP_011524525.1  katanin p60 ATPase-containing subunit A-like 2 isoform X7

    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)
  5. XM_011526221.3XP_011524523.1  katanin p60 ATPase-containing subunit A-like 2 isoform X5

    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_011526219.3XP_011524521.1  katanin p60 ATPase-containing subunit A-like 2 isoform X2

    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_017026031.1XP_016881520.1  katanin p60 ATPase-containing subunit A-like 2 isoform X8

    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]
  8. XM_005258361.3XP_005258418.1  katanin p60 ATPase-containing subunit A-like 2 isoform X8

    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]

RNA

  1. XR_002958187.1 RNA Sequence

  2. XR_001753286.2 RNA Sequence

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