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    SCPEP1 serine carboxypeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 59342, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 64.9), adrenal (RPKM 63.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SCPEP1 in Genome Data Viewer
    Location:
    17q22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56978131..57006768)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57855772..57884410)
    RS_2024_09 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. 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
    3. 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
    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 (32) 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)

    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_2024_08

    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

      UniProtKB/TrEMBL
      B4DP22

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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