This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq,... See more...

Aliases for SENP1 Gene

Aliases for SENP1 Gene

  • SUMO Specific Peptidase 1 2 3 5
  • Sentrin/SUMO-Specific Protease SENP1 3 4
  • SUMO1/Sentrin Specific Peptidase 1 2 3
  • SUMO1/Sentrin Specific Protease 1 2 3
  • Sentrin-Specific Protease 1 3 4
  • EC 3.4.22.- 4
  • EC 3.4.22 50
  • SuPr-2 3
  • SENP1 5

External Ids for SENP1 Gene

Previous GeneCards Identifiers for SENP1 Gene

  • GC12M048451
  • GC12M048338
  • GC12M048154
  • GC12M046725
  • GC12M046722
  • GC12M048436
  • GC12M045468

Summaries for SENP1 Gene

Entrez Gene Summary for SENP1 Gene

  • This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

GeneCards Summary for SENP1 Gene

SENP1 (SUMO Specific Peptidase 1) is a Protein Coding gene. Diseases associated with SENP1 include Chronic Mountain Sickness. Among its related pathways are SUMOylation and Regulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include cysteine-type peptidase activity and SUMO-specific protease activity. An important paralog of this gene is SENP2.

UniProtKB/Swiss-Prot Summary for SENP1 Gene

  • Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Deconjugates SUMO1 from METTL3 (PubMed:29506078). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844).

Gene Wiki entry for SENP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SENP1 Gene

Genomics for SENP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SENP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SENP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SENP1

Top Transcription factor binding sites by QIAGEN in the SENP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CUTL1
  • FOXD1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • STAT5A

Genomic Locations for SENP1 Gene

Latest Assembly
chr12:48,042,893-48,106,308
(GRCh38/hg38)
Size:
63,416 bases
Orientation:
Minus strand

Previous Assembly
chr12:48,436,680-48,499,862
(GRCh37/hg19 by Entrez Gene)
Size:
63,183 bases
Orientation:
Minus strand

chr12:48,436,681-48,500,091
(GRCh37/hg19 by Ensembl)
Size:
63,411 bases
Orientation:
Minus strand

Genomic View for SENP1 Gene

Genes around SENP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SENP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SENP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SENP1 Gene

Proteins for SENP1 Gene

  • Protein details for SENP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0U3-SENP1_HUMAN
    Recommended name:
    Sentrin-specific protease 1
    Protein Accession:
    Q9P0U3
    Secondary Accessions:
    • A8K7P5
    • Q86XC8

    Protein attributes for SENP1 Gene

    Size:
    644 amino acids
    Molecular mass:
    73481 Da
    Quaternary structure:
    • Interacts with MTA1. Interacts with CCAR2 (via N-terminus).

    Three dimensional structures from OCA and Proteopedia for SENP1 Gene

    Alternative splice isoforms for SENP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SENP1 Gene

Selected DME Specific Peptides for SENP1 Gene

Q9P0U3:
  • WLNDEIINFY
  • MVWEILH
  • GYQAVKRWTK
  • NGSDCGMF

Post-translational modifications for SENP1 Gene

  • Ubiquitination at Lys111 and Lys577
  • Modification sites at PhosphoSitePlus

Domains & Families for SENP1 Gene

Gene Families for SENP1 Gene

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

Protein Domains for SENP1 Gene

InterPro:
Blocks:
  • SUMO/Sentrin/Ubl1 specific protease

Suggested Antigen Peptide Sequences for SENP1 Gene

GenScript: Design optimal peptide antigens:
  • Sentrin/SUMO-specific protease SENP1 (SENP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P0U3

UniProtKB/Swiss-Prot:

SENP1_HUMAN :
  • Belongs to the peptidase C48 family.
Family:
  • Belongs to the peptidase C48 family.
genes like me logo Genes that share domains with SENP1: view

Function for SENP1 Gene

Molecular function for SENP1 Gene

UniProtKB/Swiss-Prot Function:
Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins. The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein. Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Deconjugates SUMO1 from METTL3 (PubMed:29506078). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844).

Enzyme Numbers (IUBMB) for SENP1 Gene

Phenotypes From GWAS Catalog for SENP1 Gene

Gene Ontology (GO) - Molecular Function for SENP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity TAS 10652325
GO:0005515 protein binding IPI 17099698
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SENP1: view
genes like me logo Genes that share phenotypes with SENP1: view

Animal Models for SENP1 Gene

MGI Knock Outs for SENP1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SENP1

miRNA for SENP1 Gene

miRTarBase miRNAs that target SENP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SENP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SENP1 Gene

Localization for SENP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SENP1 Gene

Nucleus. Cytoplasm. Note=Shuttles between cytoplasm and nucleus.

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 SENP1 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
cytosol 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SENP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005925 focal adhesion IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with SENP1: view

Pathways & Interactions for SENP1 Gene

genes like me logo Genes that share pathways with SENP1: view

Pathways by source for SENP1 Gene

1 BioSystems pathway for SENP1 Gene
1 GeneGo (Thomson Reuters) pathway for SENP1 Gene
  • Proteolysis Putative SUMO-1 pathway
1 R&D Systems pathway for SENP1 Gene
1 GeneTex pathway for SENP1 Gene

SIGNOR curated interactions for SENP1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for SENP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS 10652325
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 1087798
GO:0016925 protein sumoylation TAS --
GO:0016926 protein desumoylation IMP 21965678
GO:0045944 positive regulation of transcription by RNA polymerase II IGI 17981124
genes like me logo Genes that share ontologies with SENP1: view

Drugs & Compounds for SENP1 Gene

(1) Drugs for SENP1 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formaldehyde Approved, Vet_approved Pharma 156
genes like me logo Genes that share compounds with SENP1: view

Transcripts for SENP1 Gene

mRNA/cDNA for SENP1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SENP1

Alternative Splicing Database (ASD) splice patterns (SP) for SENP1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - -
SP5: - -
SP6: - -
SP7: -
SP8: - -

ExUns: 21 ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SENP1 Gene

GeneLoc Exon Structure for
SENP1

Expression for SENP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SENP1 Gene

mRNA differential expression in normal tissues according to GTEx for SENP1 Gene

This gene is overexpressed in Testis (x5.6).

Protein differential expression in normal tissues from HIPED for SENP1 Gene

This gene is overexpressed in Breast (47.1) and Placenta (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SENP1 Gene



Protein tissue co-expression partners for SENP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SENP1

SOURCE GeneReport for Unigene cluster for SENP1 Gene:

Hs.371957

mRNA Expression by UniProt/SwissProt for SENP1 Gene:

Q9P0U3-SENP1_HUMAN
Tissue specificity: Highly expressed in testis. Expressed at lower levels in thymus, pancreas, spleen, liver, ovary and small intestine.

Evidence on tissue expression from TISSUES for SENP1 Gene

  • Liver(4.4)
  • Stomach(4.3)
  • Kidney(2.5)
  • Nervous system(2.4)
  • Skin(2.3)
  • Muscle(2.2)
  • Heart(2.2)
  • Intestine(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with SENP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SENP1 Gene

Orthologs for SENP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SENP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SENP1 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SENP1 29 30
  • 93.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SENP1 29 30
  • 92.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SENP1 30
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Senp1 29 16 30
  • 86.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Senp1 29
  • 86.25 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SENP1 30
  • 49 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SENP1 29 30
  • 69.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SENP1 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia senp1 29
  • 63.61 (n)
Str.20119 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398517 29
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-21c19.3 29
  • 58.43 (n)
SENP1 30
  • 41 (a)
OneToOne
Dr.23964 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG11023 30 31
  • 27 (a)
ManyToMany
CG32110 30
  • 27 (a)
ManyToMany
Ulp1 30 31
  • 11 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea T10F2.3 31
  • 38 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ULP1 30
  • 18 (a)
OneToMany
Species where no ortholog for SENP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for SENP1 Gene

ENSEMBL:
Gene Tree for SENP1 (if available)
TreeFam:
Gene Tree for SENP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SENP1: view image
Alliance of Genome Resources:
Additional Orthologs for SENP1

Paralogs for SENP1 Gene

Paralogs for SENP1 Gene

(3) SIMAP similar genes for SENP1 Gene using alignment to 3 proteins:

  • SENP1_HUMAN
  • F8VRZ8_HUMAN
  • F8W0I8_HUMAN
genes like me logo Genes that share paralogs with SENP1: view

Variants for SENP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SENP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs112688170 Benign: not provided 48,088,943(-) T/C
NM_001267594.2(SENP1):c.238A>G (p.Ser80Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs182987633 Benign: not provided 48,065,129(-) T/C
NM_001267594.2(SENP1):c.1211A>G (p.Gln404Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs17854368 -- p.Asp350Gly
rs17854369 -- p.Ile193Val
rs35130318 -- p.Ala280Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SENP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SENP1 Gene

Variant ID Type Subtype PubMed ID
esv2759898 CNV gain+loss 17122850
nsv1071029 CNV deletion 25765185
nsv1113479 CNV deletion 24896259
nsv1124736 CNV deletion 24896259
nsv508673 CNV deletion 20534489
nsv832401 CNV loss 17160897

Variation tolerance for SENP1 Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.90; 35.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SENP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SENP1
Leiden Open Variation Database (LOVD)
SENP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SENP1 Gene

Disorders for SENP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SENP1 Gene - From: GCD

Disorder Aliases PubMed IDs
chronic mountain sickness
  • chronic mountain sickness, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search SENP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SENP1

genes like me logo Genes that share disorders with SENP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SENP1 Gene

Publications for SENP1 Gene

  1. Characterization of the localization and proteolytic activity of the SUMO-specific protease, SENP1. (PMID: 14563852) Bailey D … O'Hare P (The Journal of biological chemistry 2004) 2 3 4 22
  2. SUMO protease SENP1 induces isomerization of the scissile peptide bond. (PMID: 17099698) Shen L … Hay RT (Nature structural & molecular biology 2006) 3 4 22
  3. The structure of SENP1-SUMO-2 complex suggests a structural basis for discrimination between SUMO paralogues during processing. (PMID: 16553580) Shen LN … Hay RT (The Biochemical journal 2006) 3 4 22
  4. Differential regulation of sentrinized proteins by a novel sentrin-specific protease. (PMID: 10652325) Gong L … Yeh ET (The Journal of biological chemistry 2000) 2 3 4
  5. SUMOylation and SUMO-interacting motif (SIM) of metastasis tumor antigen 1 (MTA1) synergistically regulate its transcriptional repressor function. (PMID: 21965678) Cong L … Kumar R (The Journal of biological chemistry 2011) 3 4

Products for SENP1 Gene

Sources for SENP1 Gene