Aliases for SCPEP1 Gene

Aliases for SCPEP1 Gene

  • Serine Carboxypeptidase 1 2 3 4 5
  • Retinoid-Inducible Serine Carboxypeptidase 3 4
  • RISC 3 4
  • Serine Carboxypeptidase 1 Precursor Protein 3
  • Retinoid Inducible Serine Carboxypeptidase 2
  • EC 3.4.16.- 4
  • EC 3.4.16 54
  • HSCP1 3
  • SCP1 4

External Ids for SCPEP1 Gene

Previous GeneCards Identifiers for SCPEP1 Gene

  • GC17P055531
  • GC17P052410
  • GC17P055055
  • GC17P050416

Summaries for SCPEP1 Gene

GeneCards Summary for SCPEP1 Gene

SCPEP1 (Serine Carboxypeptidase 1) is a Protein Coding gene. Diseases associated with SCPEP1 include Stromal Dystrophy. Gene Ontology (GO) annotations related to this gene include serine-type carboxypeptidase activity. An important paralog of this gene is CPVL.

UniProtKB/Swiss-Prot Summary for SCPEP1 Gene

Gene Wiki entry for SCPEP1 Gene

Additional gene information for SCPEP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCPEP1 Gene

Genomics for SCPEP1 Gene

GeneHancer (GH) Regulatory Elements for SCPEP1 Gene

Promoters and enhancers for SCPEP1 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
GH17J056977 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 777.7 +0.2 196 3 E2F8 ZBTB40 SREBF1 SMARCE1 POLR2A USF2 NR2F1 NR2F6 ZNF362 MAX SCPEP1 ENSG00000263120
GH17J056960 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 24.8 -17.7 -17670 2.5 SP1 ZBTB40 CTCF FOXA1 MLX RBPJ POLR2A USF2 COPS2 HCFC1 COIL LOC105371836 piR-33052 piR-33557 SCPEP1 ENSG00000262298 DGKE TRIM25 ENSG00000262623
GH17J056910 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.5 -64.1 -64114 8.8 PPP1R10 SIN3A ZNF24 ZBTB6 FOXA1 MLX RBPJ SMARCE1 POLR2A USF2 TRIM25 ENSG00000274213 lnc-COIL-5 DGKE ENSG00000262298 SCPEP1 COIL RF00017-2453
GH17J056981 Promoter/Enhancer 1.2 Ensembl ENCODE 27.7 +5.6 5640 5.3 ZBTB40 SMARCE1 MYC CC2D1A L3MBTL2 MAX TEAD4 ZC3H8 ZNF148 GTF2F1 ENSG00000263120 SCPEP1 HSALNG0117613
GH17J057003 Enhancer 1 Ensembl ENCODE 23.5 +26.7 26708 3.2 SP1 CTCF MYC ETV6 HLF L3MBTL2 MAX RAD21 NKRF MAFK SCPEP1 piR-32559-182 HSALNG0117613
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCPEP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCPEP1 gene promoter:
  • AP-1
  • C/EBPalpha
  • E47
  • Elk-1
  • Hand1
  • Hlf
  • PPAR-alpha
  • TBP

Genomic Locations for SCPEP1 Gene

Genomic Locations for SCPEP1 Gene
chr17:56,978,105-57,006,768
(GRCh38/hg38)
Size:
28,664 bases
Orientation:
Plus strand
chr17:55,055,466-55,084,129
(GRCh37/hg19)
Size:
28,664 bases
Orientation:
Plus strand

Genomic View for SCPEP1 Gene

Genes around SCPEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCPEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCPEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCPEP1 Gene

Proteins for SCPEP1 Gene

  • Protein details for SCPEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HB40-RISC_HUMAN
    Recommended name:
    Retinoid-inducible serine carboxypeptidase
    Protein Accession:
    Q9HB40
    Secondary Accessions:
    • Q96A94
    • Q9H3F0

    Protein attributes for SCPEP1 Gene

    Size:
    452 amino acids
    Molecular mass:
    50831 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SCPEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCPEP1 Gene

Selected DME Specific Peptides for SCPEP1 Gene

Q9HB40:
  • LGDSWISP
  • PVGTGFS

Post-translational modifications for SCPEP1 Gene

  • Glycosylation at Asn64, Asn126, and Asn362
  • Ubiquitination at Lys243
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for SCPEP1 Gene

Gene Families for SCPEP1 Gene

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

Protein Domains for SCPEP1 Gene

Suggested Antigen Peptide Sequences for SCPEP1 Gene

GenScript: Design optimal peptide antigens:
  • Serine carboxypeptidase 1 (RISC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HB40

UniProtKB/Swiss-Prot:

RISC_HUMAN :
  • Belongs to the peptidase S10 family.
Family:
  • Belongs to the peptidase S10 family.
genes like me logo Genes that share domains with SCPEP1: view

Function for SCPEP1 Gene

Molecular function for SCPEP1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in vascular wall and kidney homeostasis.

Enzyme Numbers (IUBMB) for SCPEP1 Gene

Phenotypes From GWAS Catalog for SCPEP1 Gene

Gene Ontology (GO) - Molecular Function for SCPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004185 serine-type carboxypeptidase activity ISS,IEA --
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SCPEP1: view
genes like me logo Genes that share phenotypes with SCPEP1: view

Animal Models for SCPEP1 Gene

MGI Knock Outs for SCPEP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCPEP1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCPEP1

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SCPEP1 Gene

Localization for SCPEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCPEP1 Gene

Secreted.

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 SCPEP1 gene
Compartment Confidence
cytosol 4
lysosome 2
golgi apparatus 2
extracellular 1
endoplasmic reticulum 1
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol ISS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SCPEP1: view

Pathways & Interactions for SCPEP1 Gene

PathCards logo

SuperPathways for SCPEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SCPEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0042573 retinoic acid metabolic process ISS --
GO:0045776 negative regulation of blood pressure ISS --
GO:0051603 proteolysis involved in cellular protein catabolic process IBA 21873635
GO:0097755 positive regulation of blood vessel diameter ISS --
genes like me logo Genes that share ontologies with SCPEP1: view

No data available for Pathways by source and SIGNOR curated interactions for SCPEP1 Gene

Drugs & Compounds for SCPEP1 Gene

(1) Drugs for SCPEP1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-BENZYLSUCCINIC ACID Experimental Pharma Target 0
genes like me logo Genes that share compounds with SCPEP1: view

Transcripts for SCPEP1 Gene

mRNA/cDNA for SCPEP1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCPEP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCPEP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ·
SP1: - - - - - -
SP2: - - - - -
SP3:
SP4: - - - - - -
SP5:
SP6: -
SP7: - - - - - -

ExUns: 14d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for SCPEP1 Gene

GeneLoc Exon Structure for
SCPEP1
ECgene alternative splicing isoforms for
SCPEP1

Expression for SCPEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SCPEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCPEP1 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for SCPEP1 Gene

This gene is overexpressed in Adrenal (11.5), Nasal epithelium (11.4), and Seminal vesicle (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SCPEP1 Gene



Protein tissue co-expression partners for SCPEP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCPEP1 Gene:

SCPEP1

SOURCE GeneReport for Unigene cluster for SCPEP1 Gene:

Hs.514950

Evidence on tissue expression from TISSUES for SCPEP1 Gene

  • Eye(4.2)
  • Liver(4.2)
  • Nervous system(4.2)
  • Lung(2.5)
  • Kidney(2.2)
  • Adrenal gland(2)
  • Blood(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SCPEP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SCPEP1 Gene

Orthologs for SCPEP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SCPEP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCPEP1 33 32
  • 99.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SCPEP1 33 32
  • 89.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SCPEP1 33 32
  • 84 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scpep1 32
  • 82.37 (n)
mouse
(Mus musculus)
Mammalia Scpep1 17 33 32
  • 82.15 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 74 (a)
OneToMany
-- 33
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SCPEP1 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCPEP1 33 32
  • 69.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCPEP1 33
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scpep1 32
  • 65.96 (n)
zebrafish
(Danio rerio)
Actinopterygii scpep1 33 32
  • 66.67 (n)
OneToOne
-- 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011442 32
  • 49.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32483 33 32
  • 49.55 (n)
OneToMany
CG3344 33
  • 37 (a)
OneToMany
CG31823 33
  • 33 (a)
OneToMany
CG31821 33
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_Y32F6A.5 32
  • 51.35 (n)
Y32F6A.5 33
  • 41 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEX1 33
  • 15 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SCPL51 32
  • 53.14 (n)
rice
(Oryza sativa)
Liliopsida Os08g0560500 32
  • 53.54 (n)
Os.7754 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 39 (a)
OneToOne
Species where no ortholog for SCPEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCPEP1 Gene

ENSEMBL:
Gene Tree for SCPEP1 (if available)
TreeFam:
Gene Tree for SCPEP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCPEP1: view image

Paralogs for SCPEP1 Gene

Paralogs for SCPEP1 Gene

(1) SIMAP similar genes for SCPEP1 Gene using alignment to 6 proteins:

  • RISC_HUMAN
  • I3L195_HUMAN
  • I3L2N6_HUMAN
  • I3L4Z3_HUMAN
  • I3L4Z9_HUMAN
  • I3L506_HUMAN
genes like me logo Genes that share paralogs with SCPEP1: view

Variants for SCPEP1 Gene

Sequence variations from dbSNP and Humsavar for SCPEP1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000028895 -- 56,996,506(+) C/T intron_variant
rs1000049789 -- 57,006,853(+) A/G downstream_transcript_variant
rs1000059903 -- 56,996,370(+) A/G intron_variant
rs1000573656 -- 56,981,986(+) G/A intron_variant
rs1000871268 -- 56,984,034(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SCPEP1 Gene

Variant ID Type Subtype PubMed ID
esv32884 CNV loss 17666407
esv3328686 CNV duplication 20981092
esv3554586 CNV deletion 23714750
esv3640863 CNV loss 21293372

Variation tolerance for SCPEP1 Gene

Residual Variation Intolerance Score: 26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCPEP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCPEP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCPEP1 Gene

Disorders for SCPEP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SCPEP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
stromal dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SCPEP1

genes like me logo Genes that share disorders with SCPEP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCPEP1 Gene

Publications for SCPEP1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 56
  2. Cloning of a novel retinoid-inducible serine carboxypeptidase from vascular smooth muscle cells. (PMID: 11447226) Chen J … Miano JM (The Journal of biological chemistry 2001) 2 3 23 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 56

Products for SCPEP1 Gene

Sources for SCPEP1 Gene