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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UFSP1 Gene

protein-coding GIFtS: 43
GCID: GC07M100486

UFM1-specific peptidase 1 (non-functional)

Explore 2 diseases affiliated with
UFSP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
UFM1-Specific Peptidase 1 (Non-Functional)¹ ²
UFSP¹ ²
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:

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 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 plasmid: UFSP1 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
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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

UFSP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001015072.2

ENSEMBL proteins:

ENSP00000373413

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--

UFSP1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

UFSP1 for domains About GeneDecksing

1 InterPro domain/family:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0016790	thiolester hydrolase activity	IEA	--
GO:0071567	UFM1 hydrolase activity	IEA	--

UFSP1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for UFSP1:

Decreased POU5F1-GFP protein e

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for UFSP1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--

UFSP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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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)

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Additional cDNA sequence:

AK292467.1 BC017456.2 BC067904.1

1 DOTS entry:

DT.70103543

9 AceView cDNA sequences:

BC017456 AI939490 BQ012197 BC067904 BI666650 AI361150 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTGGGGGGG

About this image

UFSP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Bone

Brain

Limb

Limb

Neural Tube

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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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In Situ
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(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 eukaryotes.

Orthologs for UFSP1 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	UFSP1⁶	--	35(a)	1 ↔ 1	GL343939.1(91146-91814)
zebrafish (Danio rerio)	Actinopterygii	zgc:163003⁶	zgc:163003	24(a)	1 ↔ 1	7(23086334-23087345)
fruit fly (Drosophila melanogaster)	Insecta	CG30157⁶	--	20(a)	1 ↔ 1	2R(2861543-2862638)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G48380⁶	putative Ufm1-specific protease	7(a)	1 → many	3(17916416-17920237)
rice (Oryza sativa)	Liliopsida	--	peptidase family C78 domain containing protein, ex...	8(a)	1 → many	12(10845553-10853694)

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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199927605^1,2		--	100486804(+)	`CCTGGA/GGCCCT`	2	P L	mis¹		0	--	--	--	--
rs191455018^1,2		--	100486973(+)	`CTGCAG/TAGTGC`	1	--	ut5¹		0	--	--	--	--
rs148676511^1,2	--	--	100486821(+)	`TGAGCG/AAGGCA`	2	/L	syn¹		1		NA	3206

HapMap Linkage Disequilibrium report for UFSP1 (100486344 - 100487339 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for UFSP1
1 CNV: 3692

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

UFSP1 for disorders           About GeneDecksing

OMIM gene information: 611481    OMIM disorders: --

2 diseases for UFSP1:    About MalaCards

subacute sclerosing panencephalitis behcet's disease

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:
(articles sorted by number of sources associating them with UFSP1)

Utopia: connect your pdf to the dynamic
world of online information

Structural basis for Ufm1 processing by UfSP1. (PubMed id 18321862)^{1, 3} Ha B.H....Kim E.E. (2008)
Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PubMed id 17182609)^{1, 3} Kang S.H....Chung C.H. (2007)
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)
Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)^{1, 2} Scherer S.W.... Tsui L.-C. (2003)
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)
Genome-wide association analysis identifies multiple loci related to resting heart rate. (PubMed id 20639392)¹ Eijgelsheim M....O'Donnell C.J. (2010)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)² Hillier L.W.... Wilson R.K. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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

Name	Description
PharmGKB entry for UFSP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UFSP1 gene
(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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About This Section


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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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UFSP1 Gene

UFM1-specific peptidase 1 (non-functional)

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UFSP1 Gene

UFM1-specific peptidase 1 (non-functional)

Aliasesfor UFSP1 gene

Summariesfor UFSP1 gene

Genomic Viewsfor UFSP1 gene

Proteinsfor UFSP1 gene

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for UFSP1 gene

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for UFSP1 gene

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for UFSP1 gene

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for UFSP1 gene

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for UFSP1 gene

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for UFSP1 gene

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for UFSP1 gene

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