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SCPEP1 serine carboxypeptidase 1 [ Homo sapiens (human) ]

Gene ID: 59342, updated on 3-Apr-2024

Summary

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Official Symbol
SCPEP1provided by HGNC
Official Full Name
serine carboxypeptidase 1provided by HGNC
Primary source
HGNC:HGNC:29507
See related
Ensembl:ENSG00000121064 MIM:619723; AllianceGenome:HGNC:29507
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RISC; HSCP1
Summary
Predicted to enable serine-type carboxypeptidase activity. Predicted to be involved in negative regulation of blood pressure and retinoic acid metabolic process. Predicted to act upstream of or within blood vessel diameter maintenance. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 64.9), adrenal (RPKM 63.4) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
17q22
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56978131..57006768)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57855772..57884410)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (55055492..55084129)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene Neighboring gene coilin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8742 Neighboring gene Sharpr-MPRA regulatory region 7909 Neighboring gene uncharacterized LOC105371836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8743 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:55087342-55087971 Neighboring gene Sharpr-MPRA regulatory region 8860 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55094302-55095128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55095129-55095953 Neighboring gene MPRA-validated peak2908 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55123409-55124336 Neighboring gene ring finger protein 126 pseudogene 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:55156412-55157150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8744 Neighboring gene AKAP1 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Crystal structure of cathepsin A, a novel target for the treatment of cardiovascular diseases. Schreuder HA, et al. Biochem Biophys Res Commun, 2014 Mar 7. PMID 24530914
  2. Receptor for activated protein kinase C: requirement for efficient microRNA function and reduced expression in hepatocellular carcinoma. Otsuka M, et al. PLoS One, 2011. PMID 21935400, Free PMC Article
  3. Cloning of a novel retinoid-inducible serine carboxypeptidase from vascular smooth muscle cells. Chen J, et al. J Biol Chem, 2001 Sep 7. PMID 11447226
  4. Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation. Mason B, et al. Cell Mol Life Sci, 2020 Jul. PMID 31560077, Free PMC Article
  5. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Zhang H, et al. Nat Biotechnol, 2003 Jun. PMID 12754519

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The structures of active lysosomal serine carboxypeptidase cathepsin A and the inactive precursor are very similar.
    Title: Crystal structure of cathepsin A, a novel target for the treatment of cardiovascular diseases.
  2. RACK1 binds to KH-type splicing regulatory protein (KSRP), a member of the Dicer complex, and is required for the recruitment of mature miRNAs to the RNA-induced silencing complex (RISC).
    Title: Receptor for activated protein kinase C: requirement for efficient microRNA function and reduced expression in hepatocellular carcinoma.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type carboxypeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine-type carboxypeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within blood vessel diameter maintenance ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in retinoic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
retinoid-inducible serine carboxypeptidase
Names
serine carboxypeptidase 1 precursor protein
NP_067639.1
XP_005257614.1
XP_047292465.1
XP_054172820.1
XP_054172821.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021626.3 → NP_067639.1  retinoid-inducible serine carboxypeptidase precursor

    See identical proteins and their annotated locations for NP_067639.1

    Status: VALIDATED

    Source sequence(s)
    AF265441, AY358559
    Consensus CDS
    CCDS11593.1
    UniProtKB/Swiss-Prot
    Q96A94, Q9H3F0, Q9HB40
    UniProtKB/TrEMBL
    B4DP22
    Related
    ENSP00000262288.3, ENST00000262288.8
    Conserved Domains (1) summary
    pfam00450
    Location:36 → 446
    Peptidase_S10; Serine carboxypeptidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    56978131..57006768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257557.4 → XP_005257614.1  retinoid-inducible serine carboxypeptidase isoform X1

    UniProtKB/TrEMBL
    B4DP22
    Conserved Domains (1) summary
    cl08270
    Location:36 → 408
    Peptidase_S10; Serine carboxypeptidase

  2. XM_047436509.1 → XP_047292465.1  retinoid-inducible serine carboxypeptidase isoform X2

    Related
    ENSP00000458587.1, ENST00000576154.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    57855772..57884410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316845.1 → XP_054172820.1  retinoid-inducible serine carboxypeptidase isoform X1

  2. XM_054316846.1 → XP_054172821.1  retinoid-inducible serine carboxypeptidase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HB40.1 GenPept UniProtKB/Swiss-Prot:Q9HB40

Gene LinkOut

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