Aliases for KATNBL1 Gene

Aliases for KATNBL1 Gene

  • Katanin Regulatory Subunit B1 Like 1 2 3 5
  • Katanin P80 Subunit B-Like 1 2 3 4
  • KATNB1-Like Protein 1 3 4
  • C15orf29 3 4
  • Chromosome 15 Open Reading Frame 29 2

External Ids for KATNBL1 Gene

Previous HGNC Symbols for KATNBL1 Gene

  • C15orf29

Previous GeneCards Identifiers for KATNBL1 Gene

  • GC15M034433

Summaries for KATNBL1 Gene

GeneCards Summary for KATNBL1 Gene

KATNBL1 (Katanin Regulatory Subunit B1 Like 1) is a Protein Coding gene. Diseases associated with KATNBL1 include Joubert Syndrome 8.

UniProtKB/Swiss-Prot Summary for KATNBL1 Gene

  • Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro.

Gene Wiki entry for KATNBL1 Gene

Additional gene information for KATNBL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KATNBL1 Gene

Genomics for KATNBL1 Gene

GeneHancer (GH) Regulatory Elements for KATNBL1 Gene

Promoters and enhancers for KATNBL1 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
GH15J034208 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 507.1 +0.9 896 3.2 CTCF NRF1 TCF12 POLR2G SP1 PHF8 ZFX POLR2A ZBTB11 ZBTB26 KATNBL1 lnc-KATNBL1-1 NOP10 EMC4 hsa-miR-5095-152
GH15J034100 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 +108.4 108395 3.4 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PGBD4 EMC7 lnc-KATNBL1-2 AVEN AQR HNRNPLP2 KATNBL1 EMC4 RPL32P2
GH15J034182 Enhancer 0.7 Ensembl ENCODE 17.5 +26.9 26857 1.5 ZNF217 RFX1 CTBP1 SIN3A ESRRA YY1 ESR1 GATA3 DPF2 HSF1 NOP10 KATNBL1 AVEN piR-35674-161 piR-40110-203 lnc-KATNBL1-1
GH15J034121 Enhancer 0.9 Ensembl ENCODE 11.6 +86.4 86396 4.4 EP300 BCL11A ARNT MEF2B BATF FOS NR2F1 IRF4 EBF1 IKZF1 EMC7 PGBD4 KATNBL1 NOP10 SLC12A6 GOLGA8B HSALNG0104937 piR-43105-194
GH15J034223 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 -14.9 -14905 2.8 FOXK2 ZBTB40 ZNF217 EP300 SIN3A TCF12 POLR2G NCOR1 GTF2E2 PHF8 EMC4 piR-38196 piR-41306-086 NOP10 SLC12A6 NUTM1 KATNBL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KATNBL1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KATNBL1

Genomic Locations for KATNBL1 Gene

Genomic Locations for KATNBL1 Gene
chr15:34,140,674-34,210,096
(GRCh38/hg38)
Size:
69,423 bases
Orientation:
Minus strand
chr15:34,432,875-34,502,297
(GRCh37/hg19)
Size:
69,423 bases
Orientation:
Minus strand

Genomic View for KATNBL1 Gene

Genes around KATNBL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KATNBL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KATNBL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KATNBL1 Gene

Proteins for KATNBL1 Gene

  • Protein details for KATNBL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H079-KTBL1_HUMAN
    Recommended name:
    KATNB1-like protein 1
    Protein Accession:
    Q9H079
    Secondary Accessions:
    • A8KAF6
    • Q2TAC0
    • Q9H670

    Protein attributes for KATNBL1 Gene

    Size:
    304 amino acids
    Molecular mass:
    34767 Da
    Quaternary structure:
    • Interacts with KATNA1 and KATNAL1; these interactions are competed by KATNB1 which has a higher affinity for them.
    SequenceCaution:
    • Sequence=BAB15394.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for KATNBL1 Gene

Post-translational modifications for KATNBL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KATNBL1 Gene

Domains & Families for KATNBL1 Gene

Gene Families for KATNBL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KATNBL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KATNBL1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57951 (B4DEM0_HUMAN)
genes like me logo Genes that share domains with KATNBL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KATNBL1 Gene

Function for KATNBL1 Gene

Molecular function for KATNBL1 Gene

UniProtKB/Swiss-Prot Function:
Regulates microtubule-severing activity of KATNAL1 in a concentration-dependent manner in vitro.

Gene Ontology (GO) - Molecular Function for KATNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KATNBL1: view
genes like me logo Genes that share phenotypes with KATNBL1: view

miRNA for KATNBL1 Gene

miRTarBase miRNAs that target KATNBL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KATNBL1 Gene

Localization for KATNBL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KATNBL1 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes to the spindle poles only during mitosis. Sequestered to the nucleus during interphase. {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 KATNBL1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 4
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic spindle (3)
  • Nucleoplasm (3)
  • Cleavage furrow (2)
  • Midbody (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KATNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 26929214
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with KATNBL1: view

Pathways & Interactions for KATNBL1 Gene

PathCards logo

SuperPathways for KATNBL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KATNBL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051495 positive regulation of cytoskeleton organization IDA 26929214
genes like me logo Genes that share ontologies with KATNBL1: view

No data available for Pathways by source and SIGNOR curated interactions for KATNBL1 Gene

Drugs & Compounds for KATNBL1 Gene

No Compound Related Data Available

Transcripts for KATNBL1 Gene

mRNA/cDNA for KATNBL1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KATNBL1 Gene

No ASD Table

Relevant External Links for KATNBL1 Gene

GeneLoc Exon Structure for
KATNBL1

Expression for KATNBL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KATNBL1 Gene

Protein differential expression in normal tissues from HIPED for KATNBL1 Gene

This gene is overexpressed in Bone (60.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KATNBL1 Gene



Protein tissue co-expression partners for KATNBL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KATNBL1

SOURCE GeneReport for Unigene cluster for KATNBL1 Gene:

Hs.633566

Evidence on tissue expression from TISSUES for KATNBL1 Gene

  • Intestine(4.2)
  • Lung(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with KATNBL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KATNBL1 Gene

Orthologs for KATNBL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KATNBL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KATNBL1 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KATNBL1 31 30
  • 94.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KATNBL1 31 30
  • 93.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Katnbl1 30
  • 89.52 (n)
mouse
(Mus musculus)
Mammalia Katnbl1 17 31 30
  • 88.85 (n)
oppossum
(Monodelphis domestica)
Mammalia KATNBL1 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KATNBL1 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H15ORF29 31 30
  • 79.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KATNBL1 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia katnbl1 30
  • 69.34 (n)
zebrafish
(Danio rerio)
Actinopterygii katnbl1 31 30
  • 56.8 (n)
OneToOne
wufc76b10 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2105 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6894 31
  • 38 (a)
OneToOne
Species where no ortholog for KATNBL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KATNBL1 Gene

ENSEMBL:
Gene Tree for KATNBL1 (if available)
TreeFam:
Gene Tree for KATNBL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KATNBL1: view image

Paralogs for KATNBL1 Gene

(2) SIMAP similar genes for KATNBL1 Gene using alignment to 10 proteins:

  • KTBL1_HUMAN
  • H0YKW3_HUMAN
  • H0YL62_HUMAN
  • H0YLP4_HUMAN
  • H0YLX9_HUMAN
  • H0YMR8_HUMAN
  • H0YNF7_HUMAN
  • H0YNG2_HUMAN
  • H0YNH1_HUMAN
  • H0YNW3_HUMAN
genes like me logo Genes that share paralogs with KATNBL1: view

No data available for Paralogs for KATNBL1 Gene

Variants for KATNBL1 Gene

Additional dbSNP identifiers (rs#s) for KATNBL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KATNBL1 Gene

Variant ID Type Subtype PubMed ID
dgv4456n54 CNV gain 21841781
dgv728e212 CNV loss 25503493
esv33337 CNV gain+loss 17666407
esv3569431 CNV gain 25503493
nsv1052620 CNV gain 25217958
nsv1125605 CNV tandem duplication 24896259

Variation tolerance for KATNBL1 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KATNBL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KATNBL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KATNBL1 Gene

Disorders for KATNBL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KATNBL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 8
  • jbts8
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KATNBL1

genes like me logo Genes that share disorders with KATNBL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KATNBL1 Gene

Publications for KATNBL1 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 54
  2. 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 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for KATNBL1 Gene

Sources for KATNBL1 Gene