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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 56
  • 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. Gene Ontology (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). Has microtubule-severing activity in vitro (PubMed:26929214).

Additional gene information for KATNAL1 Gene

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

Genomics for KATNAL1 Gene

GeneHancer (GH) Regulatory Elements for KATNAL1 Gene

Promoters and enhancers for KATNAL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I030306 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 562 0.0 -33 3 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 POLR2B ZNF766 E2F8 KATNAL1 USPL1 LINC01058 LINC00427
GH13I030462 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.2 -157.3 -157335 5.3 HDGF FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 HMGB1 USPL1 LINC01058 KATNAL1 UBL3 GC13M030460 MFAP1P1
GH13I030339 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.5 -33.8 -33811 3.3 FOXA2 RAD21 YY1 TCF12 FOS ATF7 RXRA CEBPB REST ATF4 KATNAL1 ENSG00000279149 LINC00427 LINC00426
GH13I030393 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -87.8 -87809 3 PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ATF7 USPL1 LINC01058 HMGB1 KATNAL1 LINC00426
GH13I030141 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +164.4 164352 2.6 USF1 MAX SIN3A EBF1 ZIC2 ZNF213 POLR2A ZNF143 RCOR1 ETV6 PIR52167 GC13M030142 KATNAL1 LINC00385
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KATNAL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KATNAL1 gene promoter:

Genomic Locations for KATNAL1 Gene

Genomic Locations for KATNAL1 Gene
chr13:30,202,630-30,307,487
(GRCh38/hg38)
Size:
104,858 bases
Orientation:
Minus strand
chr13:30,776,767-30,881,621
(GRCh37/hg19)

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:
    • Interacts with KATNB1 and KATNBL1.

neXtProt entry for KATNAL1 Gene

Selected DME Specific Peptides for KATNAL1 Gene

Q9BW62:
  • KSVSAAD
  • EAVVLPMWMP
  • GIRRPWKGVLM
  • RDPAVWPPPVPAEHRAPPQIRR
  • LREVELDPD
  • ALERDIVSRNP
  • RRLEKRI
  • KWQQVRQEL
  • LALKKIAKSVS
  • REYALLGNY
  • LFEMARFYAPTTIFIDEIDS
  • EHEASRRVK
  • TTFFNVSS
  • TNVCRDAS
  • MAMRRRI
  • WDDIADL
  • LAKAVATEC
  • EEYEQVKSIVSTLESFK
  • QMDGVGG
  • CSRRGTS

Post-translational modifications for KATNAL1 Gene

No Post-translational modifications

Domains & Families for KATNAL1 Gene

Gene Families for KATNAL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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). Has microtubule-severing activity in vitro (PubMed:26929214).

Enzyme Numbers (IUBMB) for KATNAL1 Gene

Phenotypes From GWAS Catalog 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 IDA 26929214
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with KATNAL1: view
genes like me logo Genes that share phenotypes with KATNAL1: view

miRNA for KATNAL1 Gene

miRTarBase miRNAs that target KATNAL1

Clone 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. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note=Colocalizes with microtubules throughout the basal and adluminal compartments of Sertoli cells (By similarity). Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214). {ECO:0000250 UniProtKB:Q8K0T4, ECO:0000269 PubMed:26929214}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KATNAL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KATNAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 26929214
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IDA 26929214
GO:0005813 centrosome IEA --
GO:0005815 microtubule organizing center 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:0007049 cell cycle IEA --
GO:0007283 spermatogenesis IEA --
GO:0051013 microtubule severing IDA 26929214
GO:0051301 cell division 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
ATP Investigational Nutra Agonist 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Evidence on tissue expression from TISSUES for KATNAL1 Gene

  • Nervous system(4.3)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with KATNAL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia KATNAL1 33 34
  • 99.86 (n)
oppossum
(Monodelphis domestica)
Mammalia KATNAL1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KATNAL1 33 34
  • 94.76 (n)
cow
(Bos Taurus)
Mammalia KATNAL1 33 34
  • 90.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KATNAL1 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Katnal1 33 16 34
  • 85.66 (n)
rat
(Rattus norvegicus)
Mammalia Katnal1 33
  • 84.56 (n)
chicken
(Gallus gallus)
Aves KATNAL1 33 34
  • 81.66 (n)
lizard
(Anolis carolinensis)
Reptilia KATNAL1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia katnal1 33
  • 77.48 (n)
zebrafish
(Danio rerio)
Actinopterygii katnal1 33
  • 70.64 (n)
si:dkey-185p13.1 34
  • 18 (a)
ManyToMany
Dr.18550 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001783 33
  • 58.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Kat60 33 34
  • 55.69 (n)
kat-60L1 34
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea mei-1 34
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS4 34
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000004775 -- 30,291,555(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000048459 -- 30,307,105(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000068611 -- 30,292,060(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000101530 -- 30,259,123(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000123604 -- 30,238,841(-) A/C 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)

Additional Variant Information 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

Additional Disease Information for KATNAL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Proteomic Analysis of the Mammalian Katanin Family of Microtubule-severing Enzymes Defines Katanin p80 subunit B-like 1 (KATNBL1) as a Regulator of Mammalian Katanin Microtubule-severing. (PMID: 26929214) Cheung K … Torres JZ (Molecular & cellular proteomics : MCP 2016) 3 4 58
  2. Ab initio protein modelling reveals novel human MIT domains. (PMID: 19302785) Rigden DJ … Clague MJ (FEBS letters 2009) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for KATNAL1 Gene

Sources for KATNAL1 Gene

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