Aliases for UBXN6 Gene

Aliases for UBXN6 Gene

  • UBX Domain Protein 6 2 3 5
  • UBXDC2 2 3 4
  • UBX Domain-Containing Protein 6 3 4
  • UBX Domain-Containing Protein 1 3 4
  • UBX Domain Containing 1 2 3
  • UBXD1 3 4
  • UBX Domain-Containing 1 2
  • UBX Domain-Containing 2 3
  • CTB-50L17.16 3
  • UBXN6 5

External Ids for UBXN6 Gene

Previous HGNC Symbols for UBXN6 Gene

  • UBXD1

Previous GeneCards Identifiers for UBXN6 Gene

  • GC19M004397
  • GC19M004207

Summaries for UBXN6 Gene

GeneCards Summary for UBXN6 Gene

UBXN6 (UBX Domain Protein 6) is a Protein Coding gene. Diseases associated with UBXN6 include Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia and Multisystem Proteinopathy. Among its related pathways are Protein processing in endoplasmic reticulum. An important paralog of this gene is ASPSCR1.

UniProtKB/Swiss-Prot Summary for UBXN6 Gene

  • May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes (PubMed:26475856). As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation (PubMed:21822278, PubMed:23335559). It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins (PubMed:19275885). Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622).

Additional gene information for UBXN6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBXN6 Gene

Genomics for UBXN6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UBXN6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBXN6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBXN6

Top Transcription factor binding sites by QIAGEN in the UBXN6 gene promoter:
  • AP-1
  • AP-4
  • ARP-1
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • CBF(2)
  • NF-Y
  • Pax-4a

Genomic Locations for UBXN6 Gene

Genomic Locations for UBXN6 Gene
chr19:4,444,999-4,458,759
(GRCh38/hg38)
Size:
13,761 bases
Orientation:
Minus strand
chr19:4,444,996-4,457,819
(GRCh37/hg19)
Size:
12,824 bases
Orientation:
Minus strand

Genomic View for UBXN6 Gene

Genes around UBXN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBXN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBXN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBXN6 Gene

Proteins for UBXN6 Gene

  • Protein details for UBXN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZV1-UBXN6_HUMAN
    Recommended name:
    UBX domain-containing protein 6
    Protein Accession:
    Q9BZV1
    Secondary Accessions:
    • D6W626
    • Q96AH1
    • Q96IK9
    • Q9BZV0

    Protein attributes for UBXN6 Gene

    Size:
    441 amino acids
    Molecular mass:
    49754 Da
    Quaternary structure:
    • Interacts with VCP through the PUB domain (via C-terminus) and VIM motif (via N-terminus); the interaction is direct (PubMed:18656546, PubMed:19174149, PubMed:21896481, PubMed:21822278, PubMed:26475856). Forms a ternary complex with CAV1 and VCP (PubMed:21822278). Interacts with SYVN1 (PubMed:18656546). Interacts with HERPUD1 (PubMed:18656546). Interacts with VCPKMT (PubMed:23349634). May interact with DERL1 (PubMed:19275885). Interacts with PLAA, VCP and YOD1; may form a complex involved in macroautophagy (PubMed:27753622). Interacts with LMAN1 (PubMed:22337587).

    Three dimensional structures from OCA and Proteopedia for UBXN6 Gene

    Alternative splice isoforms for UBXN6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBXN6 Gene

Post-translational modifications for UBXN6 Gene

  • Ubiquitination at Lys85, Lys172, Lys202, Lys257, and Lys301
  • Modification sites at PhosphoSitePlus

Other Protein References for UBXN6 Gene

No data available for DME Specific Peptides for UBXN6 Gene

Domains & Families for UBXN6 Gene

Gene Families for UBXN6 Gene

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

Protein Domains for UBXN6 Gene

InterPro:
Blocks:
  • UBX domain
ProtoNet:

Suggested Antigen Peptide Sequences for UBXN6 Gene

GenScript: Design optimal peptide antigens:
  • UBX domain-containing protein 1 (UBXN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZV1

UniProtKB/Swiss-Prot:

UBXN6_HUMAN :
  • The UBX domain lacks key residues critical for VCP binding.
Domain:
  • The UBX domain lacks key residues critical for VCP binding.
genes like me logo Genes that share domains with UBXN6: view

Function for UBXN6 Gene

Molecular function for UBXN6 Gene

UniProtKB/Swiss-Prot Function:
May negatively regulate the ATPase activity of VCP, an ATP-driven segregase that associates with different cofactors to control a wide variety of cellular processes (PubMed:26475856). As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation (PubMed:21822278, PubMed:23335559). It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins (PubMed:19275885). Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes (PubMed:27753622).

Phenotypes From GWAS Catalog for UBXN6 Gene

Gene Ontology (GO) - Molecular Function for UBXN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18656546
genes like me logo Genes that share ontologies with UBXN6: view
genes like me logo Genes that share phenotypes with UBXN6: view

Animal Model Products

CRISPR Products

miRNA for UBXN6 Gene

miRTarBase miRNAs that target UBXN6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBXN6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBXN6 Gene

Localization for UBXN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBXN6 Gene

Cytoplasm. Cytoplasm, cytosol. Membrane. Peripheral membrane protein. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Early endosome membrane. Peripheral membrane protein. Late endosome membrane. Peripheral membrane protein. Lysosome membrane. Peripheral membrane protein. Note=Localizes at the centrosome both in interphase and during mitosis (PubMed:18656546). May be recruited to endosomal and lysosomal membranes as part of a ternary complex with CAV1 and VCP (PubMed:21822278). Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains (PubMed:27753622). {ECO:0000269 PubMed:18656546, ECO:0000269 PubMed:21822278, ECO:0000269 PubMed:27753622}.

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 UBXN6 gene
Compartment Confidence
endosome 5
cytosol 5
lysosome 5
extracellular 4
nucleus 4
cytoskeleton 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBXN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 27753622
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 21822278
GO:0005768 endosome IDA 26475856
genes like me logo Genes that share ontologies with UBXN6: view

Pathways & Interactions for UBXN6 Gene

PathCards logo

SuperPathways for UBXN6 Gene

genes like me logo Genes that share pathways with UBXN6: view

Pathways by source for UBXN6 Gene

1 KEGG pathway for UBXN6 Gene

Gene Ontology (GO) - Biological Process for UBXN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016236 macroautophagy IMP 27753622
GO:0032510 endosome to lysosome transport via multivesicular body sorting pathway IMP 21822278
GO:0036503 ERAD pathway IMP 19275885
genes like me logo Genes that share ontologies with UBXN6: view

No data available for SIGNOR curated interactions for UBXN6 Gene

Drugs & Compounds for UBXN6 Gene

No Compound Related Data Available

Transcripts for UBXN6 Gene

mRNA/cDNA for UBXN6 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBXN6

Alternative Splicing Database (ASD) splice patterns (SP) for UBXN6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - - -
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6: - -
SP7:

Relevant External Links for UBXN6 Gene

GeneLoc Exon Structure for
UBXN6

Expression for UBXN6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBXN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UBXN6 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for UBXN6 Gene

This gene is overexpressed in Frontal cortex (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBXN6 Gene



Protein tissue co-expression partners for UBXN6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBXN6

SOURCE GeneReport for Unigene cluster for UBXN6 Gene:

Hs.435255

mRNA Expression by UniProt/SwissProt for UBXN6 Gene:

Q9BZV1-UBXN6_HUMAN
Tissue specificity: Enhanced expression in testis.

Evidence on tissue expression from TISSUES for UBXN6 Gene

  • Skin(4.4)
  • Liver(4.3)
  • Nervous system(3.9)
  • Muscle(2.9)
  • Eye(2.6)
  • Lung(2.4)
  • Kidney(2.4)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with UBXN6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for UBXN6 Gene

Orthologs for UBXN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBXN6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UBXN6 30 31
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UBXN6 30 31
  • 87.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UBXN6 30 31
  • 86.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ubxn6 30 17 31
  • 79.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ubxn6 30
  • 78.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 48 (a)
OneToMany
Chicken
(Gallus gallus)
Aves UBXN6 30 31
  • 64.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UBXN6 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ubxn6 30
  • 58.53 (n)
Zebrafish
(Danio rerio)
Actinopterygii ubxn6 30 31
  • 60.96 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006391 30
  • 53.81 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Gint3 30 31
  • 50.51 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ubxn-6 30 31
  • 42.7 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for UBXN6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 UBXN6 Gene

ENSEMBL:
Gene Tree for UBXN6 (if available)
TreeFam:
Gene Tree for UBXN6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBXN6: view image

Paralogs for UBXN6 Gene

Paralogs for UBXN6 Gene

(1) SIMAP similar genes for UBXN6 Gene using alignment to 4 proteins:

  • UBXN6_HUMAN
  • K7EJ02_HUMAN
  • K7ELN1_HUMAN
  • K7EP32_HUMAN
genes like me logo Genes that share paralogs with UBXN6: view

Variants for UBXN6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBXN6 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1127888 - p.Ala31Thr
rs35436704 - p.Pro425Leu

Additional dbSNP identifiers (rs#s) for UBXN6 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBXN6 Gene

Variant ID Type Subtype PubMed ID
nsv833718 CNV loss 17160897
nsv833720 CNV loss 17160897

Variation tolerance for UBXN6 Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.65; 78.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBXN6 Gene

Human Gene Mutation Database (HGMD)
UBXN6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBXN6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBXN6 Gene

Disorders for UBXN6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBXN6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
inclusion body myopathy with paget disease of bone and frontotemporal dementia
  • muscular dystrophy, limb-girdle, with paget disease of bone
multisystem proteinopathy
charcot-marie-tooth disease, axonal, type 2e
  • cmt2e
- elite association - COSMIC cancer census association via MalaCards
Search UBXN6 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with UBXN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBXN6 Gene

Publications for UBXN6 Gene

  1. Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog. (PMID: 11342112) Carim-Todd L … Sumoy L (Biochimica et biophysica acta 2001) 2 3 4
  2. VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. (PMID: 27753622) Papadopoulos C … Meyer H (The EMBO journal 2017) 3 4
  3. The N-terminal Region of the Ubiquitin Regulatory X (UBX) Domain-containing Protein 1 (UBXD1) Modulates Interdomain Communication within the Valosin-containing Protein p97. (PMID: 26475856) Trusch F … Bayer P (The Journal of biological chemistry 2015) 3 4
  4. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4
  5. Ubiquitination of the N-terminal region of caveolin-1 regulates endosomal sorting by the VCP/p97 AAA-ATPase. (PMID: 23335559) Kirchner P … Meyer H (The Journal of biological chemistry 2013) 3 4

Products for UBXN6 Gene

Sources for UBXN6 Gene