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Aliases for KATNAL1 Gene

Aliases for KATNAL1 Gene

  • Katanin Catalytic Subunit A1 Like 1 2 3 5
  • Katanin P60 Subunit A-Like 1 2 4
  • EC 3.6.4.3 4 61
  • Katanin Catalytic Subunit A Like 1 2
  • Katanin P60 Subunit A Like 1 2
  • P60 Katanin-Like 1 4

External Ids for KATNAL1 Gene

Previous GeneCards Identifiers for KATNAL1 Gene

  • GC13M028581
  • GC13M029680
  • GC13M030776
  • GC13M011590

Summaries for KATNAL1 Gene

GeneCards Summary for KATNAL1 Gene

KATNAL1 (Katanin Catalytic Subunit A1 Like 1) is a Protein Coding gene. Diseases associated with KATNAL1 include 13Q12.3 Microdeletion Syndrome. GO annotations related to this gene include microtubule binding and microtubule-severing ATPase activity. An important paralog of this gene is KATNA1.

UniProtKB/Swiss-Prot for KATNAL1 Gene

  • Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KATNAL1 Gene

Genomics for KATNAL1 Gene

Regulatory Elements for KATNAL1 Gene

Enhancers for KATNAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KATNAL1 on UCSC Golden Path with GeneCards custom track

Promoters for KATNAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for KATNAL1 Gene

Chromosome:
13
Start:
30,202,630 bp from pter
End:
30,307,487 bp from pter
Size:
104,858 bases
Orientation:
Minus strand

Genomic View for KATNAL1 Gene

Genes around KATNAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KATNAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KATNAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KATNAL1 Gene

Proteins for KATNAL1 Gene

  • Protein details for KATNAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW62-KATL1_HUMAN
    Recommended name:
    Katanin p60 ATPase-containing subunit A-like 1
    Protein Accession:
    Q9BW62
    Secondary Accessions:
    • A8K5X4

    Protein attributes for KATNAL1 Gene

    Size:
    490 amino acids
    Molecular mass:
    55392 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KATNAL1 Gene

Post-translational modifications for KATNAL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KATNAL1 Gene

Domains & Families for KATNAL1 Gene

Gene Families for KATNAL1 Gene

Suggested Antigen Peptide Sequences for KATNAL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BW62

UniProtKB/Swiss-Prot:

KATL1_HUMAN :
  • Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 1 sub-subfamily.
Family:
  • Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 1 sub-subfamily.
genes like me logo Genes that share domains with KATNAL1: view

Function for KATNAL1 Gene

Molecular function for KATNAL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Regulates microtubule dynamics in Sertoli cells, a process that is essential for spermiogenesis and male fertility. Severs microtubules in an ATP-dependent manner, promoting rapid reorganization of cellular microtubule arrays (By similarity).

Enzyme Numbers (IUBMB) for KATNAL1 Gene

Gene Ontology (GO) - Molecular Function for KATNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
GO:0008568 microtubule-severing ATPase activity IBA --
genes like me logo Genes that share ontologies with KATNAL1: view
genes like me logo Genes that share phenotypes with KATNAL1: view

Animal Model Products

CRISPR Products

miRNA for KATNAL1 Gene

miRTarBase miRNAs that target KATNAL1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KATNAL1 Gene

Localization for KATNAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KATNAL1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KATNAL1 Gene COMPARTMENTS Subcellular localization image for KATNAL1 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for KATNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with KATNAL1: view

Pathways & Interactions for KATNAL1 Gene

SuperPathways for KATNAL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KATNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0031122 cytoplasmic microtubule organization IBA --
GO:0051013 microtubule severing IEA --
genes like me logo Genes that share ontologies with KATNAL1: view

No data available for Pathways by source and SIGNOR curated interactions for KATNAL1 Gene

Drugs & Compounds for KATNAL1 Gene

(3) Drugs for KATNAL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for KATNAL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with KATNAL1: view

Transcripts for KATNAL1 Gene

Unigene Clusters for KATNAL1 Gene

Katanin p60 subunit A-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KATNAL1 Gene

No ASD Table

Relevant External Links for KATNAL1 Gene

GeneLoc Exon Structure for
KATNAL1
ECgene alternative splicing isoforms for
KATNAL1

Expression for KATNAL1 Gene

mRNA expression in normal human tissues for KATNAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KATNAL1 Gene

This gene is overexpressed in Fetal Brain (18.1), Neutrophil (11.8), Monocytes (11.3), Testis (8.8), Frontal cortex (6.4), and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KATNAL1 Gene



Protein tissue co-expression partners for KATNAL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KATNAL1 Gene:

KATNAL1

SOURCE GeneReport for Unigene cluster for KATNAL1 Gene:

Hs.243596

mRNA Expression by UniProt/SwissProt for KATNAL1 Gene:

Q9BW62-KATL1_HUMAN
Tissue specificity: Expressed in testis, restricted to Sertoli cells (at protein level).
genes like me logo Genes that share expression patterns with KATNAL1: view

Primer Products

No data available for mRNA differential expression in normal tissues for KATNAL1 Gene

Orthologs for KATNAL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KATNAL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KATNAL1 34
  • 90.54 (n)
  • 97.14 (a)
KATNAL1 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KATNAL1 34
  • 94.76 (n)
  • 97.96 (a)
KATNAL1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Katnal1 34
  • 85.66 (n)
  • 94.67 (a)
Katnal1 16
Katnal1 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KATNAL1 34
  • 99.86 (n)
  • 99.8 (a)
KATNAL1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Katnal1 34
  • 84.56 (n)
  • 95.49 (a)
oppossum
(Monodelphis domestica)
Mammalia KATNAL1 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KATNAL1 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KATNAL1 34
  • 81.66 (n)
  • 90.39 (a)
KATNAL1 35
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KATNAL1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia katnal1 34
  • 77.48 (n)
  • 86.86 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18550 34
katnal1 34
  • 70.64 (n)
  • 81.11 (a)
si:dkey-185p13.1 35
  • 18 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001783 34
  • 58.73 (n)
  • 65.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta Kat60 34
  • 55.69 (n)
  • 58.96 (a)
kat-60L1 35
  • 34 (a)
ManyToMany
Kat60 35
  • 50 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mei-1 35
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS4 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
Species where no ortholog for KATNAL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KATNAL1 Gene

ENSEMBL:
Gene Tree for KATNAL1 (if available)
TreeFam:
Gene Tree for KATNAL1 (if available)

Paralogs for KATNAL1 Gene

Paralogs for KATNAL1 Gene

(8) SIMAP similar genes for KATNAL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KATNAL1: view

Variants for KATNAL1 Gene

Sequence variations from dbSNP and Humsavar for KATNAL1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs10478 -- 30,203,065(-) ATACA(A/G)ACTAA utr-variant-3-prime
rs200515 -- 30,262,580(+) agaat(A/T)ctata intron-variant
rs200521 -- 30,264,361(+) aaaag(A/C)caaaa intron-variant
rs202079 -- 30,305,017(+) cttca(C/T)ttctc intron-variant
rs202080 -- 30,305,181(+) tgccc(C/T)atatc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KATNAL1 Gene

Variant ID Type Subtype PubMed ID
esv2657382 CNV deletion 23128226
esv3580589 CNV loss 25503493
esv3631667 CNV gain 21293372
esv3631670 CNV loss 21293372
nsv1110218 CNV duplication 24896259
nsv473406 CNV novel sequence insertion 20440878
nsv521987 CNV loss 19592680
nsv528192 CNV loss 19592680
nsv832572 CNV gain 17160897
nsv977224 CNV duplication 23825009

Variation tolerance for KATNAL1 Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KATNAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KATNAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KATNAL1 Gene

Disorders for KATNAL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KATNAL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
13q12.3 microdeletion syndrome
  • del(13)(q12.3)
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KATNAL1

Genetic Association Database (GAD)
KATNAL1
Human Genome Epidemiology (HuGE) Navigator
KATNAL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KATNAL1
genes like me logo Genes that share disorders with KATNAL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KATNAL1 Gene

Publications for KATNAL1 Gene

  1. Ab initio protein modelling reveals novel human MIT domains. (PMID: 19302785) Rigden D.J. … Clague M.J. (FEBS Lett. 2009) 2 3 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. (PMID: 26354767) Bailey M.L. … Hieter P. (Genetics 2015) 3 65

Products for KATNAL1 Gene

Sources for KATNAL1 Gene

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