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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. GO annotations related to this gene include thiolester hydrolase activity and UFM1 hydrolase activity. An important paralog of this gene is UFSP2.

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

Genomics for UFSP1 Gene

Regulatory Elements for UFSP1 Gene

Enhancers for UFSP1 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
GH07F101058 0.5 ENCODE 12.6 -168.9 -168857 0.1 MLX ARID4B SIN3A ZNF48 SLC30A9 ZNF143 ZNF263 NFYC NCOA1 MXD4 NYAP1 MBLAC1 UFSP1 ACHE MUC17 VGF GC07P101059 RN7SKP54 TRIM56
GH07F100928 0.7 ENCODE 12 -40.0 -39979 2.4 BRD4 SOX13 TEAD4 ZNF384 CEBPG ZNF316 GATA3 CTBP1 NFE2 CREM ACHE UFSP1 MUC12 MUC17 NAT16 MOSPD3 TRIP6 TAF6 GC07P100932 RPS29P15
GH07F100924 0.4 FANTOM5 12 -34.7 -34707 0.1 USF1 RAD51 NFYC USF2 ACHE UFSP1 MUC3A MUC12 MUC17 NAT16 RPS29P15 PIR59042
GH07F100933 0.2 ENCODE 11.7 -44.1 -44132 0.2 KLF1 IKZF1 ACHE UFSP1 MUC12 MUC17 GC07P100932 MUC3A
GH07F100909 0.9 Ensembl ENCODE 7.7 -22.0 -21982 3.5 HDGF ATF1 PKNOX1 ARNT ZNF121 ZNF766 GATA2 KLF13 NCOA1 MBD2 ACHE SLC12A9 MUC3A COPS6 MBLAC1 PILRB UFSP1 FIS1 MOSPD3 LOC102724094
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around UFSP1 on UCSC Golden Path with GeneCards custom track

Promoters for UFSP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000631238 -382 2201 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207

Genomic Location for UFSP1 Gene

Chromosome:
7
Start:
100,888,723 bp from pter
End:
100,889,718 bp from pter
Size:
996 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

No data available for Gene Families for UFSP1 Gene

Function 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:0016790 thiolester hydrolase 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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for UFSP1 Gene COMPARTMENTS Subcellular localization image for UFSP1 gene
Compartment Confidence
extracellular 5
cytosol 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for UFSP1 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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://string-db.org/version_10/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
C1orf27

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with UFSP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia UFSP1 34 35
  • 84.51 (n)
dog
(Canis familiaris)
Mammalia UFSP1 34
  • 83.8 (n)
rat
(Rattus norvegicus)
Mammalia LOC102550903 34
  • 81.28 (n)
mouse
(Mus musculus)
Mammalia Ufsp1 34 16 35
  • 81.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 5 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia UFSP1 35
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ufsp1 35
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30157 35
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs11171 -- 100,888,489(-) CTTGG(A/G)TCTCC downstream-variant-500B, reference, synonymous-codon
rs111902319 -- 100,889,904(+) TTTCT(C/T)GCCCT intron-variant, downstream-variant-500B, upstream-variant-2KB
rs112259347 -- 100,891,406(+) CGGGA(C/T)CCCGG intron-variant, upstream-variant-2KB
rs112427842 -- 100,889,674(+) CGCAA(G/T)AGGCA intron-variant, downstream-variant-500B, utr-variant-5-prime
rs113616334 -- 100,890,423(+) GGGGG(C/T)ATGAG intron-variant, nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for UFSP1

Genetic Association Database (GAD)
UFSP1
Human Genome Epidemiology (HuGE) Navigator
UFSP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UFSP1

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 C.J. (Hum. Mol. Genet. 2010) 3 46 64
  2. Structural basis for Ufm1 processing by UfSP1. (PMID: 18321862) Ha B.H. … Kim E.E. (J. Biol. Chem. 2008) 2 3 64
  3. Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PMID: 17182609) Kang S.H. … Chung C.H. (J. Biol. Chem. 2007) 2 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64

Products for UFSP1 Gene

Sources for UFSP1 Gene

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