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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UFSP1 Gene

protein-coding   GIFtS: 45
GCID: GC07M100486

UFM1-Specific Peptidase 1 (Non-Functional)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UFM1-Specific Peptidase 1 (Non-Functional)1 2
UFSP2
Inactive Ufm1-Specific Protease 12
UfSP13

External Ids:    HGNC: 338211   Entrez Gene: 4026822   Ensembl: ENSG000001761257   OMIM: 6114815   UniProtKB: Q6NVU63   

Export aliases for UFSP1 gene to outside databases

Previous GC identifers: GC07M100327 GC07M095116


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (non-functional)) is a protein-coding gene. Diseases associated with UFSP1 include subacute sclerosing panencephalitis, and resting heart rate. GO annotations related to this gene include UFM1 hydrolase activity and molecular_function. An important paralog of this gene is UFSP2.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UFSP1 gene promoter:
         TBP   Sp1   TFIID   Egr-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUFSP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UFSP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UFSP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

UFSP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UFSP1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M100486:  view genomic region     (about GC identifiers)

Start:
100,486,344 bp from pter      End:
100,487,339 bp from pter
Size:
996 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 99,845,949-99,846,944     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UFSP1_HUMAN, Q6NVU6 (See protein sequence)
Recommended Name: Inactive Ufm1-specific protease 1  
Size: 142 amino acids; 15060 Da
Caution: Although strongly related to the Ufm1-specific proteases, it is shorter in N-terminus and lacks the
conserved Cys active site, suggesting that it is probably catalytically inactive
Sequence caution: Sequence=EAL23814.1; Type=Erroneous gene model prediction;
Secondary accessions: A4D2E4 A8K8V2 B6ZDG6 Q9BXP6

Explore the universe of human proteins at neXtProt for UFSP1: NX_Q6NVU6

Explore proteomics data for UFSP1 at MOPED 

UFSP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

UFSP1 Protein Expression

REFSEQ proteins: NP_001015072.2  
ENSEMBL proteins: 
 ENSP00000373413  

Human Recombinant Protein Products for UFSP1: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--

UFSP1 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR012462 Peptidase_C78_UfSP1/2

Graphical View of Domain Structure for InterPro Entry Q6NVU6

ProtoNet protein and cluster: Q6NVU6

UniProtKB/Swiss-Prot: UFSP1_HUMAN, Q6NVU6
Similarity: Belongs to the peptidase C78 family


UFSP1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0016790thiolester hydrolase activity IEA--
GO:0071567UFM1 hydrolase activity IEA--
     
UFSP1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for UFSP1:
 Decreased POU5F1-GFP protein e  Synthetic lethal with Ras 

Animal Models:
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UFSP1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UFSP1

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

UFSP1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for UFSP1

Search CenterWatch for drugs/clinical trials and news about UFSP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for UFSP1 gene: 
NM_001015072.3  

Unigene Cluster for UFSP1:

UFM1-specific peptidase 1 (non-functional)
Hs.534845  [show with all ESTs]
Unigene Representative Sequence: AK292467
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000388761(uc003uxc.4)
miRNA
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                     Customized lentivirus expression plasmids for stable overexpression of UFSP1 
Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UFSP1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UFSP1

Additional mRNA sequence: 

AK292467.1 BC017456.2 BC067904.1 

1 DOTS entry:

DT.70103543 

9 AceView cDNA sequences:

AI939490 BC017456 BC067904 AI361150 BQ012197 BI666650 BE891729 AW089648 
BF438568 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

UFSP1 expression in normal human tissues (normalized intensities)      UFSP1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTTGGGGGGG
UFSP1 Expression
About this image


UFSP1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/11 selected tissues (see all 11) fully expand
 
 Limb (Muscoskeletal System)    fully expand to see all 6 entries
         Mesenchymal Condensate Cells Zeugopod
         Zeugopod
         limb/hindlimb/leg   
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
         cavities and their linings/intraembryonic coelom/diaphragm   
 
 Neural Tube (Nervous System)    fully expand to see all 3 entries
         Metencephalon
         brain/midbrain/lateral wall   
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         Mesenchymal Condensate Cells Zeugopod
         Zeugopod Long Bone
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Medulla Oblongata
         brain/midbrain/lateral wall   

See UFSP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UFSP1

SOURCE GeneReport for Unigene cluster: Hs.534845
    SABiosciences Custom PCR Arrays for UFSP1
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UFSP1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UFSP1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for UFSP1 gene from 4/8 species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ufsp11 , 5 UFM1-specific peptidase 11, 5 81.03(n)1
82.31(a)1
  5 (76.33 cM)5
702401  NM_027356.21  NP_081632.11 
 1372946295 
lizard
(Anolis carolinensis)
Reptilia UFSP16
Uncharacterized protein
35(a)
1 ↔ 1
GL343939.1(91146-91814)
zebrafish
(Danio rerio)
Actinopterygii UFSP16
UFM1-specific peptidase 1 (non-functional)
24(a)
1 ↔ 1
7(23086334-23087345)
fruit fly
(Drosophila melanogaster)
Insecta CG301576
--
19(a)
1 ↔ 1
2R(2861543-2862638)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for UFSP1 gene
UFSP22  
1 SIMAP similar gene for UFSP1 using alignment to 1 protein entry:     UFSP1_HUMAN:
UFSP2

UFSP1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

8 SNPs in UFSP1 are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0311254
----see VAR_0311252 L V mis40--------
rs783176061,2
C--100486544(+) CTGCA-/ACTCAC 2 A CS fra10--------
rs1999276051,2
--100486804(+) CCTGGA/GGCCCT 2 P L mis10--------
rs1914550181,2
--100486973(+) CTGCAG/TAGTGC 1 -- ut510--------
rs3690983271,2
----100486815(+) CCGAAA/GTGAGC 2 H syn10--------
rs3726819091,2
----100486858(+) AGTCCC/TGGGAG 2 Q R mis10--------
rs3760571591,2
----100486790(+) GTGGCA/GGAGGC 2 R C mis10--------
rs1486765111,2
----100486821(+) TGAGCG/AAGGCA 2 /L syn11Minor allele frequency- A:0.00NA 3206

HapMap Linkage Disequilibrium report for UFSP1 (100486344 - 100487339 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for UFSP1:    About this table     
Variant IDTypeSubtypePubMed ID
esv2734888CNV Deletion23290073
dgv7403n71CNV Loss21882294
dgv7404n71CNV Loss21882294
nsv831073CNV Loss17160897
dgv7405n71CNV Loss21882294
dgv2119e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 611481    OMIM disorders: --

3 diseases for UFSP1:    About MalaCards
subacute sclerosing panencephalitis    resting heart rate    behcet's disease


UFSP1 for disorders           About GeneDecksing

Genetic Association Database (GAD): UFSP1
Human Genome Epidemiology (HuGE) Navigator: UFSP1 (1 document)

Export disorders for UFSP1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for UFSP1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with UFSP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association analysis identifies multiple loci related to resting heart rate. (PubMed id 20639392)1, 4 Eijgelsheim M....O'Donnell C.J. (2010)
  2. Structural basis for Ufm1 processing by UfSP1. (PubMed id 18321862)1, 3 Ha B.H....Kim E.E. (2008)
  3. Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PubMed id 17182609)1, 3 Kang S.H....Chung C.H. (2007)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
  6. Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. (PubMed id 11239002)1, 2 Wilson M.D....Koop B.F. (2001)
  7. Genome-wide association study for circulating levels o f PAI-1 provides novel insights into its regulation. (PubMed id 22990020)1 Huang J....Hamsten A. (2012)
  8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  10. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 402682 HGNC: 33821 AceView: LOC402682 Ensembl:ENSG00000176125 euGenes: HUgn402682
ECgene: UFSP1 H-InvDB: UFSP1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for UFSP1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for UFSP1 gene:
Search GeneIP for patents involving UFSP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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