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Aliases for UFL1 Gene

Aliases for UFL1 Gene

  • UFM1 Specific Ligase 1 2 3 5
  • Novel LZAP-Binding Protein 2 3 4
  • KIAA0776 2 3 4
  • Regulator Of CDK5RAP3 And DDRGK1 2 3
  • Regulator Of C53/LZAP And DDRGK1 3 4
  • RCAD 3 4
  • NLBP 3 4
  • E3 UFM1-Protein Ligase 1 3
  • UFM1-Specific Ligase 1 2
  • LZAP-Binding Protein 3
  • EC 6.3.2.- 4
  • Maxer 3

External Ids for UFL1 Gene

Previous HGNC Symbols for UFL1 Gene

  • KIAA0776

Previous GeneCards Identifiers for UFL1 Gene

  • GC06P096969

Summaries for UFL1 Gene

GeneCards Summary for UFL1 Gene

UFL1 (UFM1 Specific Ligase 1) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and UFM1 transferase activity.

UniProtKB/Swiss-Prot for UFL1 Gene

  • E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling (PubMed:20018847, PubMed:20164180, PubMed:20228063, PubMed:25219498). May also through TRIP4 ufmylation play a role in nuclear receptors-mediated transcription (PubMed:25219498). May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress (PubMed:23152784).

Additional gene information for UFL1 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 UFL1 Gene

Genomics for UFL1 Gene

GeneHancer (GH) Regulatory Elements for UFL1 Gene

Promoters and enhancers for UFL1 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
GH06I096519 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.8 +0.0 3 4.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B UFL1 UFL1-AS1 MANEA-AS1 LOC100286973
GH06I096923 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.2 +402.9 402863 2.1 HDGF ARNT FEZF1 DMAP1 ZNF2 POLR2B ZNF766 ZNF416 KLF13 SP3 KLHL32 MMS22L UFL1 RN7SL509P LOC101927314
GH06I096810 Enhancer 0.9 dbSUPER 10.2 +290.9 290924 3.2 ZNF493 ZNF529 ZFP64 MZF1 ZNF155 ZNF121 ZNF213 ZNF354C ZNF138 ZNF366 GPR63 NDUFAF4 UFL1 KLHL32 PIR60553
GH06I096499 Enhancer 0.2 ENCODE 11.8 -21.6 -21615 0.2 UFL1 UFL1-AS1 PIR52191 GC06M096509 GC06M096486 LOC105377907
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UFL1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for UFL1 Gene

Genomic Locations for UFL1 Gene
chr6:96,521,595-96,555,276
(GRCh38/hg38)
Size:
33,682 bases
Orientation:
Plus strand
chr6:96,969,471-97,003,152
(GRCh37/hg19)

Genomic View for UFL1 Gene

Genes around UFL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UFL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UFL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UFL1 Gene

Proteins for UFL1 Gene

  • Protein details for UFL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94874-UFL1_HUMAN
    Recommended name:
    E3 UFM1-protein ligase 1
    Protein Accession:
    O94874
    Secondary Accessions:
    • A0PJ53
    • B4DJ57
    • C0H5X5
    • Q8N765
    • Q9NTQ0

    Protein attributes for UFL1 Gene

    Size:
    794 amino acids
    Molecular mass:
    89595 Da
    Quaternary structure:
    • Interacts with DDRGK1 (PubMed:20018847, PubMed:20164180, PubMed:25219498). Interacts with UFC1 (PubMed:20018847). Interacts with RELA (PubMed:20164180). Interacts with TRIP4 (PubMed:25219498). Interacts with CDK5RAP3; the interaction is direct (PubMed:20164180, PubMed:20228063).
    SequenceCaution:
    • Sequence=AAH15377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA34496.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for UFL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UFL1 Gene

Post-translational modifications for UFL1 Gene

  • Ubiquitinated, leading to its degradation by the proteasome. Interaction with CDK5RAP3 protects each other against ubiquitination and degradation via the proteasome.
  • Ubiquitination at posLast=4343

Other Protein References for UFL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UFL1 Gene

Domains & Families for UFL1 Gene

Gene Families for UFL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UFL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UFL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94874

UniProtKB/Swiss-Prot:

UFL1_HUMAN :
  • Belongs to the UFL1 family.
Family:
  • Belongs to the UFL1 family.
genes like me logo Genes that share domains with UFL1: view

Function for UFL1 Gene

Molecular function for UFL1 Gene

UniProtKB/Swiss-Prot Function:
E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling (PubMed:20018847, PubMed:20164180, PubMed:20228063, PubMed:25219498). May also through TRIP4 ufmylation play a role in nuclear receptors-mediated transcription (PubMed:25219498). May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress (PubMed:23152784).
UniProtKB/Swiss-Prot Induction:
Up-regulated by thapsigargin.

Enzyme Numbers (IUBMB) for UFL1 Gene

Gene Ontology (GO) - Molecular Function for UFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20018847
GO:0016874 ligase activity IEA --
GO:0071568 UFM1 transferase activity IDA 20018847
genes like me logo Genes that share ontologies with UFL1: view
genes like me logo Genes that share phenotypes with UFL1: view

Animal Models for UFL1 Gene

MGI Knock Outs for UFL1:
  • Ufl1 tm1a(EUCOMM)Wtsi

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UFL1 Gene

Localization for UFL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UFL1 Gene

Endoplasmic reticulum. Cytoplasm, cytosol.

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 UFL1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 20164180
GO:0005783 endoplasmic reticulum IDA,IEA 20018847
GO:0005789 endoplasmic reticulum membrane IDA 20531390
GO:0005829 cytosol IEA --
GO:0016020 membrane HDA,IDA 16210410
genes like me logo Genes that share ontologies with UFL1: view

Pathways & Interactions for UFL1 Gene

genes like me logo Genes that share pathways with UFL1: view

Gene Ontology (GO) - Biological Process for UFL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0008284 positive regulation of cell proliferation IMP 20531390
GO:0010468 regulation of gene expression IEA --
GO:0031397 negative regulation of protein ubiquitination IDA 20164180
GO:0032088 negative regulation of NF-kappaB transcription factor activity IMP 20164180
genes like me logo Genes that share ontologies with UFL1: view

No data available for SIGNOR curated interactions for UFL1 Gene

Drugs & Compounds for UFL1 Gene

No Compound Related Data Available

Transcripts for UFL1 Gene

mRNA/cDNA for UFL1 Gene

Unigene Clusters for UFL1 Gene

UFM1-specific ligase 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UFL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for UFL1 Gene

GeneLoc Exon Structure for
UFL1
ECgene alternative splicing isoforms for
UFL1

Expression for UFL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UFL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UFL1 Gene

This gene is overexpressed in Bone (20.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UFL1 Gene



Protein tissue co-expression partners for UFL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UFL1 Gene:

UFL1

SOURCE GeneReport for Unigene cluster for UFL1 Gene:

Hs.149367

mRNA Expression by UniProt/SwissProt for UFL1 Gene:

O94874-UFL1_HUMAN
Tissue specificity: Ubiquitously expressed, with a high expression in liver (at protein level). Low expression in several invasive hepatocellular carcinomas, such Hep-G2, Hep 3B2.1-7, HLE and PLC.

Evidence on tissue expression from TISSUES for UFL1 Gene

  • Liver(4.4)
  • Kidney(4.3)
  • Nervous system(4.3)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with UFL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UFL1 Gene

Orthologs for UFL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UFL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UFL1 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia UFL1 33 34
  • 92.25 (n)
cow
(Bos Taurus)
Mammalia UFL1 33 34
  • 91.2 (n)
rat
(Rattus norvegicus)
Mammalia Ufl1 33
  • 87.1 (n)
mouse
(Mus musculus)
Mammalia Ufl1 33 16 34
  • 87.01 (n)
oppossum
(Monodelphis domestica)
Mammalia UFL1 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves UFL1 33 34
  • 75.76 (n)
lizard
(Anolis carolinensis)
Reptilia UFL1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ufl1 33
  • 69.14 (n)
zebrafish
(Danio rerio)
Actinopterygii ufl1 33 34
  • 60.94 (n)
zgc63562 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3579 33
fruit fly
(Drosophila melanogaster)
Insecta CG1104 33 34
  • 46.61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta UFL1_ANOGA 33
  • 45.01 (n)
worm
(Caenorhabditis elegans)
Secernentea ufl-1 34
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G46220 33
  • 43.28 (n)
rice
(Oryza sativa)
Liliopsida Os05g0117600 33
  • 43.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
Species where no ortholog for UFL1 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)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UFL1 Gene

ENSEMBL:
Gene Tree for UFL1 (if available)
TreeFam:
Gene Tree for UFL1 (if available)

Paralogs for UFL1 Gene

No data available for Paralogs for UFL1 Gene

Variants for UFL1 Gene

Sequence variations from dbSNP and Humsavar for UFL1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000006155 -- 96,547,893(+) T/C intron_variant
rs1000031366 -- 96,533,443(+) A/G intron_variant
rs1000078255 -- 96,547,029(+) A/G intron_variant
rs1000220834 -- 96,534,974(+) T/G intron_variant
rs1000436111 -- 96,521,691(+) G/A upstream_transcript_variant

Variation tolerance for UFL1 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.18; 51.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UFL1 Gene

Human Gene Mutation Database (HGMD)
UFL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UFL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UFL1 Gene

Disorders for UFL1 Gene

Additional Disease Information for UFL1

No disorders were found for UFL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UFL1 Gene

Publications for UFL1 Gene

  1. A novel C53/LZAP-interacting protein regulates stability of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF-kappaB signaling. (PMID: 20228063) Wu J … Li H (The Journal of biological chemistry 2010) 2 3 4 58
  2. A novel LZAP-binding protein, NLBP, inhibits cell invasion. (PMID: 20164180) Kwon J … Kim H (The Journal of biological chemistry 2010) 2 3 4 58
  3. A novel type of E3 ligase for the Ufm1 conjugation system. (PMID: 20018847) Tatsumi K … Komatsu M (The Journal of biological chemistry 2010) 2 3 4 58
  4. Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development. (PMID: 25219498) Yoo HM … Chung CH (Molecular cell 2014) 3 4 58
  5. Transcriptional regulation of the Ufm1 conjugation system in response to disturbance of the endoplasmic reticulum homeostasis and inhibition of vesicle trafficking. (PMID: 23152784) Zhang Y … Li H (PloS one 2012) 3 4 58

Products for UFL1 Gene

Sources for UFL1 Gene

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