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Aliases for UFSP1 Gene

Aliases for UFSP1 Gene

  • UFM1 Specific Peptidase 1 (Inactive) 2 3 5
  • UFM1-Specific Peptidase 1 (Non-Functional) 2 3
  • Inactive Ufm1-Specific Protease 1 3
  • UfSP1 4
  • UFSP 3

External Ids for UFSP1 Gene

Previous GeneCards Identifiers for UFSP1 Gene

  • GC07M100327
  • GC07M100486
  • GC07M095116

Summaries for UFSP1 Gene

Entrez Gene Summary for UFSP1 Gene

  • This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

GeneCards Summary for UFSP1 Gene

UFSP1 (UFM1 Specific Peptidase 1 (Inactive)) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include thiolester hydrolase activity and UFM1 hydrolase activity. An important paralog of this gene is UFSP2.

Additional gene information for UFSP1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UFSP1 Gene

Genomics for UFSP1 Gene

GeneHancer (GH) Regulatory Elements for UFSP1 Gene

Promoters and enhancers for UFSP1 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
GH07I100886 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 390 5.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 GC07M100887 UFSP1 TRIM4 SRRT ZNF3 GIGYF1 PPP1R35 STAG3L5P PCOLCE ACHE
GH07I101058 Enhancer 0.9 ENCODE 12.6 -168.9 -168857 0.1 FOXA2 MLX ARID4B SIN3A ZNF48 SLC30A9 ZNF766 ZNF143 RXRA NFYC GC07P101059 RN7SKP54 UFSP1 ACHE MUC17 VGF GC07P101044 TRIM56
GH07I100928 Enhancer 0.6 ENCODE 12 -40.0 -39979 2.4 SMARCE1 USF1 DPF2 MNT ZNF507 MITF ZNF217 CTBP1 GATA3 JUND RPS29P15 ACHE UFSP1 MUC12 MUC17 NAT16 MOSPD3 TRIP6 TAF6 GC07P100932
GH07I100909 Enhancer 0.9 Ensembl ENCODE 7.8 -22.0 -21982 3.5 PKNOX1 ATF1 FOXA2 TEAD4 ZNF384 YY1 NCOA2 ZNF121 GATA3 NFE2 ACHE SLC12A9 MUC3A COPS6 MBLAC1 PILRB UFSP1 FIS1 MOSPD3 LOC102724094
GH07I100933 Enhancer 0.3 ENCODE 11.8 -44.1 -44132 0.2 KLF1 GC07P100932 ACHE UFSP1 MUC12 MUC17 MUC3A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UFSP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UFSP1 gene promoter:

Genomic Locations for UFSP1 Gene

Genomic Locations for UFSP1 Gene
chr7:100,888,723-100,889,718
(GRCh38/hg38)
Size:
996 bases
Orientation:
Minus strand
chr7:100,486,344-100,487,339
(GRCh37/hg19)

Genomic View for UFSP1 Gene

Genes around UFSP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UFSP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UFSP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UFSP1 Gene

Proteins for UFSP1 Gene

  • Protein details for UFSP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NVU6-UFSP1_HUMAN
    Recommended name:
    Inactive Ufm1-specific protease 1
    Protein Accession:
    Q6NVU6
    Secondary Accessions:
    • A4D2E4
    • A8K8V2
    • B6ZDG6
    • Q9BXP6

    Protein attributes for UFSP1 Gene

    Size:
    142 amino acids
    Molecular mass:
    15060 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAL23814.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for UFSP1 Gene

Post-translational modifications for UFSP1 Gene

No Post-translational modifications

Other Protein References for UFSP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UFSP1 Gene

Domains & Families for UFSP1 Gene

Gene Families for UFSP1 Gene

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

Protein Domains for UFSP1 Gene

Suggested Antigen Peptide Sequences for UFSP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NVU6

UniProtKB/Swiss-Prot:

UFSP1_HUMAN :
  • Belongs to the peptidase C78 family.
Family:
  • Belongs to the peptidase C78 family.
genes like me logo Genes that share domains with UFSP1: view

Function for UFSP1 Gene

Phenotypes From GWAS Catalog for UFSP1 Gene

Gene Ontology (GO) - Molecular Function for UFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0071567 UFM1 hydrolase activity IBA --
genes like me logo Genes that share ontologies with UFSP1: view
genes like me logo Genes that share phenotypes with UFSP1: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UFSP1 Gene

Localization for UFSP1 Gene

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 UFSP1 gene
Compartment Confidence
extracellular 5
cytosol 2
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with UFSP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for UFSP1 Gene

Pathways & Interactions for UFSP1 Gene

SuperPathways for UFSP1 Gene

No Data Available

Interacting Proteins for UFSP1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000373413%0d%0a9606.ENSP00000287859%0d%0a
Selected Interacting proteins: ENSP00000373413 for UFSP1 Gene via STRING

Symbol External ID(s) Details
ODR4

Gene Ontology (GO) - Biological Process for UFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with UFSP1: view

No data available for Pathways by source and SIGNOR curated interactions for UFSP1 Gene

Drugs & Compounds for UFSP1 Gene

No Compound Related Data Available

Transcripts for UFSP1 Gene

mRNA/cDNA for UFSP1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UFSP1 Gene

UFM1-specific peptidase 1 (non-functional):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UFSP1 Gene

No ASD Table

Relevant External Links for UFSP1 Gene

GeneLoc Exon Structure for
UFSP1
ECgene alternative splicing isoforms for
UFSP1

Expression for UFSP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UFSP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UFSP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of UFSP1 Gene:

UFSP1

SOURCE GeneReport for Unigene cluster for UFSP1 Gene:

Hs.534845

Evidence on tissue expression from TISSUES for UFSP1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with UFSP1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UFSP1 Gene

Orthologs for UFSP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UFSP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UFSP1 33 34
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia UFSP1 33 34
  • 84.51 (n)
dog
(Canis familiaris)
Mammalia UFSP1 33
  • 83.8 (n)
rat
(Rattus norvegicus)
Mammalia LOC102550903 33
  • 81.28 (n)
mouse
(Mus musculus)
Mammalia Ufsp1 33 16 34
  • 81.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 5 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia UFSP1 34
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ufsp1 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30157 34
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToOne
Species where no ortholog for UFSP1 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UFSP1 Gene

ENSEMBL:
Gene Tree for UFSP1 (if available)
TreeFam:
Gene Tree for UFSP1 (if available)

Paralogs for UFSP1 Gene

Paralogs for UFSP1 Gene

(1) SIMAP similar genes for UFSP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UFSP1: view

Variants for UFSP1 Gene

Sequence variations from dbSNP and Humsavar for UFSP1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1001371809 -- 100,890,193(-) G/T upstream_transcript_variant
rs1001462526 -- 100,888,308(-) CCCC/CCCCC downstream_transcript_variant
rs1001781956 -- 100,890,465(-) G/A upstream_transcript_variant
rs1002048627 -- 100,888,560(-) G/A downstream_transcript_variant
rs1003155208 -- 100,891,475(-) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for UFSP1 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
nsv1020837 CNV loss 25217958
nsv607965 CNV loss 21841781
nsv607966 CNV loss 21841781
nsv607967 CNV loss 21841781
nsv607968 CNV loss 21841781
nsv831073 CNV loss 17160897

Variation tolerance for UFSP1 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UFSP1 Gene

Human Gene Mutation Database (HGMD)
UFSP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UFSP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UFSP1 Gene

Disorders for UFSP1 Gene

Additional Disease Information for UFSP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for UFSP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UFSP1 Gene

Publications for UFSP1 Gene

  1. Genome-wide association analysis identifies multiple loci related to resting heart rate. (PMID: 20639392) Eijgelsheim M … O'Donnell CJ (Human molecular genetics 2010) 3 44 58
  2. Structural basis for Ufm1 processing by UfSP1. (PMID: 18321862) Ha BH … Kim EE (The Journal of biological chemistry 2008) 2 3 58
  3. Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PMID: 17182609) Kang SH … Chung CH (The Journal of biological chemistry 2007) 2 3 58
  4. 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
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58

Products for UFSP1 Gene

Sources for UFSP1 Gene

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