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    SPCS1 signal peptidase complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 28972, updated on 28-Oct-2024

    Summary

    Official Symbol
    SPCS1provided by HGNC
    Official Full Name
    signal peptidase complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:23401
    See related
    Ensembl:ENSG00000114902 MIM:610358; AllianceGenome:HGNC:23401
    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
    SPC1; SPC12; HSPC033; YJR010C-A
    Summary
    Predicted to enable ribosome binding activity. Involved in signal peptide processing; viral protein processing; and virion assembly. Located in endoplasmic reticulum membrane. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 60.9), colon (RPKM 57.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPCS1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52706106..52711148)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52739017..52744058)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52740122..52745164)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein nucleolar 3 Neighboring gene small nucleolar RNA, C/D box 69 Neighboring gene glycosyltransferase 8 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52749367-52749954 Neighboring gene NIMA related kinase 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:52765581-52766780 Neighboring gene zinc finger protein 610 pseudogene Neighboring gene AK3 pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein targeting to ER IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal peptide processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal peptide processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral protein processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in virion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    part_of signal peptidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of signal peptidase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of signal peptidase complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    signal peptidase complex subunit 1
    Names
    SPase 12 kDa subunit
    microsomal signal peptidase 12 kDa subunit
    signal peptidase 12kDa
    signal peptidase complex 12 kDa subunit
    signal peptidase complex subunit 1 homolog
    NP_054760.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014041.5NP_054760.4  signal peptidase complex subunit 1

      Status: VALIDATED

      Source sequence(s)
      AC104446, AK027426, BC000884, CA309210, DB459917
      Consensus CDS
      CCDS33769.3
      UniProtKB/TrEMBL
      A0A5F9YFS9
      Related
      ENSP00000478310.2, ENST00000619898.5
      Conserved Domains (1) summary
      pfam06645
      Location:1281
      SPC12; Microsomal signal peptidase 12 kDa subunit (SPC12)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52706106..52711148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52739017..52744058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)