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Aliases for KATNAL1 Gene

Aliases for KATNAL1 Gene

  • Katanin Catalytic Subunit A1 Like 1 2 3
  • Katanin P60 Subunit A-Like 1 2 4 5
  • EC 3.6.4.3 4 63
  • 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around KATNAL1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KATNAL1 Gene at MOPED

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:0005524 ATP binding IEA --
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

miRNA for KATNAL1 Gene

miRTarBase miRNAs that target KATNAL1

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:0015630 microtubule cytoskeleton 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 --
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

(1) Drugs for KATNAL1 Gene - From: HMDB

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

(3) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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, MOPED, and MaxQB for KATNAL1 Gene



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

Protein tissue co-expression partners for KATNAL1 Gene

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 35
  • 90.54 (n)
  • 97.14 (a)
KATNAL1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KATNAL1 35
  • 94.76 (n)
  • 97.96 (a)
KATNAL1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Katnal1 35
  • 85.66 (n)
  • 94.67 (a)
Katnal1 16
Katnal1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KATNAL1 35
  • 99.86 (n)
  • 99.8 (a)
KATNAL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Katnal1 35
  • 84.56 (n)
  • 95.49 (a)
oppossum
(Monodelphis domestica)
Mammalia KATNAL1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KATNAL1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves KATNAL1 35
  • 81.66 (n)
  • 90.39 (a)
KATNAL1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KATNAL1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia katnal1 35
  • 77.48 (n)
  • 86.86 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18550 35
katnal1 35
  • 70.64 (n)
  • 81.11 (a)
si:dkey-185p13.1 36
  • 18 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001783 35
  • 58.73 (n)
  • 65.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta Kat60 35
  • 55.69 (n)
  • 58.96 (a)
kat-60L1 36
  • 34 (a)
ManyToMany
Kat60 36
  • 50 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mei-1 36
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS4 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for KATNAL1:
  • 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
rs169264 -- 30,264,651(+) agaaa(C/T)gcaaa intron-variant
rs169331 -- 30,304,558(+) ccact(G/T)cgccc intron-variant
rs169332 -- 30,226,156(+) atttg(A/C)attct intron-variant
rs183236 -- 30,291,917(+) gtaat(C/G)ccagc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832572 CNV Gain 17160897
esv2657382 CNV Deletion 23128226
nsv528192 CNV Loss 19592680
nsv521987 CNV Loss 19592680
nsv899962 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 67
  2. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  3. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. (PMID: 24664804) Bartholdi D. … Kjaergaard S. (Am. J. Med. Genet. A 2014) 3
  4. Lack of association of KATNAL1 gene sequence variants and azoospermia in humans. (PMID: 24913027) Fedick A.M. … Scott R.T. (J. Assist. Reprod. Genet. 2014) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for KATNAL1 Gene

Sources for KATNAL1 Gene

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