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Aliases for UBL4A Gene

Aliases for UBL4A Gene

  • Ubiquitin Like 4A 2 3 5
  • Ubiquitin-Like Protein GDX 3 4
  • Ubiquitin-Like 4 2 3
  • DXS254E 3 4
  • UBL4 3 4
  • GDX 3 4
  • Ubiquitin-Like Protein 4A 3
  • Ubiquitin-Like 4A 2
  • DX254E 3
  • TMA24 3
  • G6PD 3
  • GET5 3
  • MDY2 3

External Ids for UBL4A Gene

Previous HGNC Symbols for UBL4A Gene

  • UBL4

Previous GeneCards Identifiers for UBL4A Gene

  • GC0XM153276
  • GC0XM153365
  • GC0XM153712
  • GC0XM142288

Summaries for UBL4A Gene

GeneCards Summary for UBL4A Gene

UBL4A (Ubiquitin Like 4A) is a Protein Coding gene. Diseases associated with UBL4A include Optic Disk Drusen and Suppression Amblyopia. GO annotations related to this gene include ubiquitin-like protein transferase activity. An important paralog of this gene is UBL4B.

UniProtKB/Swiss-Prot for UBL4A Gene

  • As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303).

Gene Wiki entry for UBL4A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBL4A Gene

Genomics for UBL4A Gene

Regulatory Elements for UBL4A Gene

Enhancers for UBL4A 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
GH0XG154443 0.9 ENCODE 13.7 +42.4 42444 2.3 HDGF HDAC1 RB1 ARNT CREB3L1 AGO1 ZSCAN4 SIN3A ZNF155 GLIS2 FAM50A HCFC1 LOC105373383 GDI1 LAGE3 UBL4A RPL10 PLXNA3 PDZD4 SNORA56
GH0XG154483 1 ENCODE 0.7 +0.8 836 3.8 PKNOX1 ATF1 CREB3L1 ARNT SIN3A ZBTB7B ZNF766 GLIS2 ELK1 FOS FAM3A FAM50A GDI1 CH17-340M24.3 ATP6AP1 GC0XM154482 UBL4A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBL4A on UCSC Golden Path with GeneCards custom track

Promoters for UBL4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000249678 270 1601 SIN3A ZBTB7B ZNF766 GLIS2 ELK1 SP3 ZNF592 GLIS1 HMBOX1 WT1

Genomic Location for UBL4A Gene

Chromosome:
X
Start:
154,483,717 bp from pter
End:
154,486,670 bp from pter
Size:
2,954 bases
Orientation:
Minus strand

Genomic View for UBL4A Gene

Genes around UBL4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBL4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBL4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBL4A Gene

Proteins for UBL4A Gene

  • Protein details for UBL4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11441-UBL4A_HUMAN
    Recommended name:
    Ubiquitin-like protein 4A
    Protein Accession:
    P11441
    Secondary Accessions:
    • Q5HY80

    Protein attributes for UBL4A Gene

    Size:
    157 amino acids
    Molecular mass:
    17777 Da
    Quaternary structure:
    • Component of the BAG6/BAT3 complex, at least composed of BAG6, UBL4A and GET4/TRC35 (PubMed:20676083). Interacts with USP13; may be indirect via BAG6 (PubMed:24424410).

    Three dimensional structures from OCA and Proteopedia for UBL4A Gene

neXtProt entry for UBL4A Gene

Post-translational modifications for UBL4A Gene

  • Polyubiquitinated. Ubiquitination by AMFR and deubiquitination by USP13 may regulate the interaction between the BAG6/BAT3 complex and SGTA and therefore may regulate client proteins fate.
  • Ubiquitination at Lys101 and posLast=153153
  • Modification sites at PhosphoSitePlus

Other Protein References for UBL4A Gene

No data available for DME Specific Peptides for UBL4A Gene

Domains & Families for UBL4A Gene

Protein Domains for UBL4A Gene

Suggested Antigen Peptide Sequences for UBL4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UBL4A: view

No data available for Gene Families and UniProtKB/Swiss-Prot for UBL4A Gene

Function for UBL4A Gene

Molecular function for UBL4A Gene

UniProtKB/Swiss-Prot Function:
As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates to their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303).

Gene Ontology (GO) - Molecular Function for UBL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19615732
GO:0019787 ubiquitin-like protein transferase activity TAS 2829204
GO:0051087 chaperone binding IPI 25535373
genes like me logo Genes that share ontologies with UBL4A: view
genes like me logo Genes that share phenotypes with UBL4A: view

Animal Models for UBL4A Gene

MGI Knock Outs for UBL4A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBL4A

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBL4A Gene

Localization for UBL4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBL4A Gene

Cytoplasm, cytosol. Nucleus.

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 UBL4A gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UBL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21636303
GO:0005737 cytoplasm IDA,IEA 21636303
GO:0005829 cytosol IDA,IEA 20676083
GO:0016020 membrane IDA 23246001
GO:0071818 BAT3 complex IDA 20676083
genes like me logo Genes that share ontologies with UBL4A: view

Pathways & Interactions for UBL4A Gene

SuperPathways for UBL4A Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 2829204
GO:0006810 transport IEA --
GO:0071816 tail-anchored membrane protein insertion into ER membrane IMP 20676083
genes like me logo Genes that share ontologies with UBL4A: view

No data available for Pathways by source and SIGNOR curated interactions for UBL4A Gene

Transcripts for UBL4A Gene

Unigene Clusters for UBL4A Gene

Ubiquitin-like 4A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBL4A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBL4A Gene

No ASD Table

Relevant External Links for UBL4A Gene

GeneLoc Exon Structure for
UBL4A
ECgene alternative splicing isoforms for
UBL4A

Expression for UBL4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBL4A Gene

Protein differential expression in normal tissues from HIPED for UBL4A Gene

This gene is overexpressed in Bone (21.4) and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBL4A Gene



Protein tissue co-expression partners for UBL4A Gene

NURSA nuclear receptor signaling pathways regulating expression of UBL4A Gene:

UBL4A

SOURCE GeneReport for Unigene cluster for UBL4A Gene:

Hs.76480

Evidence on tissue expression from TISSUES for UBL4A Gene

  • Nervous system(4.9)
  • Lung(4.4)
  • Eye(3.4)
  • Muscle(2.4)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with UBL4A: view

Primer Products

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 UBL4A Gene

Orthologs for UBL4A Gene

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

Orthologs for UBL4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBL4A 34 35
  • 100 (n)
mouse
(Mus musculus)
Mammalia Ubl4 35
  • 90 (a)
OneToOne
Slc10a3-ubl4 34
  • 85.56 (n)
Ubl4a 16
dog
(Canis familiaris)
Mammalia UBL4A 34 35
  • 88.96 (n)
cow
(Bos Taurus)
Mammalia UBL4A 34 35
  • 84.93 (n)
-- 35
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ubl4a 34
  • 84.93 (n)
oppossum
(Monodelphis domestica)
Mammalia UBL4A 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBL4A 35
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ubl4a 34
  • 57.31 (n)
zebrafish
(Danio rerio)
Actinopterygii UBL4A 35
  • 62 (a)
OneToMany
zgc:56596 34
  • 57.79 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8734 34
fruit fly
(Drosophila melanogaster)
Insecta CG7215 35
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDY2 37
Species where no ortholog for UBL4A 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 UBL4A Gene

ENSEMBL:
Gene Tree for UBL4A (if available)
TreeFam:
Gene Tree for UBL4A (if available)

Paralogs for UBL4A Gene

Paralogs for UBL4A Gene

(8) SIMAP similar genes for UBL4A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with UBL4A: view

Variants for UBL4A Gene

Sequence variations from dbSNP and Humsavar for UBL4A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000882856 -- 154,487,666(+) AGGCT(A/G)TTCTG upstream-variant-2KB, reference, synonymous-codon
rs1002773458 -- 154,485,241(+) CATGC(A/G)AGAGC utr-variant-3-prime
rs1004931965 -- 154,484,153(+) TAAAT(A/G)TATCA utr-variant-3-prime
rs1005328536 -- 154,483,618(+) CCCAT(A/G)TGTGT downstream-variant-500B
rs1007864812 -- 154,486,165(+) GGCCT(C/T)GGCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBL4A Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv519042 CNV gain 19592680

Variation tolerance for UBL4A Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.50; 77.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBL4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBL4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBL4A Gene

Disorders for UBL4A Gene

MalaCards: The human disease database

(8) MalaCards diseases for UBL4A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
optic disk drusen
  • drusen of optic disc
suppression amblyopia
  • strabismic amblyopia
glaucoma 1, open angle, e
  • primary open angle glaucoma
glaucoma, normal tension
  • low tension glaucoma
neuroretinitis
  • focal retinitis and retinochoroiditis, juxtapapillary
- elite association - COSMIC cancer census association via MalaCards
Search UBL4A in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBL4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBL4A
genes like me logo Genes that share disorders with UBL4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBL4A Gene

Publications for UBL4A Gene

  1. A 'housekeeping' gene on the X chromosome encodes a protein similar to ubiquitin. (PMID: 2829204) Toniolo D. … Alcalay M. (Proc. Natl. Acad. Sci. U.S.A. 1988) 2 3 4 64
  2. USP13 antagonizes gp78 to maintain functionality of a chaperone in ER-associated degradation. (PMID: 24424410) Liu Y. … Ye Y. (Elife 2014) 3 4 64
  3. A ubiquitin ligase-associated chaperone holdase maintains polypeptides in soluble states for proteasome degradation. (PMID: 21636303) Wang Q. … Ye Y. (Mol. Cell 2011) 3 4 64
  4. A ribosome-associating factor chaperones tail-anchored membrane proteins. (PMID: 20676083) Mariappan M. … Hegde R.S. (Nature 2010) 3 4 64
  5. Ubl4b, an X-derived retrogene, is specifically expressed in post-meiotic germ cells in mammals. (PMID: 16872915) Yang F. … Wang P.J. (Gene Expr. Patterns 2007) 2 3 64

Products for UBL4A Gene

Sources for UBL4A Gene

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