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    SRGN serglycin [ Homo sapiens (human) ]

    Gene ID: 5552, updated on 9-Dec-2024

    Summary

    Official Symbol
    SRGNprovided by HGNC
    Official Full Name
    serglycinprovided by HGNC
    Primary source
    HGNC:HGNC:9361
    See related
    Ensembl:ENSG00000122862 MIM:177040; AllianceGenome:HGNC:9361
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPG; PRG; PRG1
    Summary
    This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]
    Expression
    Biased expression in bone marrow (RPKM 1650.2), appendix (RPKM 289.1) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SRGN in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (69087603..69104811)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (69925937..69973238)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70847359..70864567)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2425 Neighboring gene ACTB pseudogene 14 Neighboring gene uncharacterized LOC105378342 Neighboring gene Sharpr-MPRA regulatory region 5024 Neighboring gene MPRA-validated peak1005 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70812477-70812978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:70812979-70813478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3484 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16959 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:70828777-70829328 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16968 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:70847990-70849189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:70884392-70884898 Neighboring gene VPS26 retromer complex component A Neighboring gene ribosomal protein S12 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3486 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:70949649-70949852 Neighboring gene Suv3 like RNA helicase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2429

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC9289, FLJ12930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell secretory granule organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in granzyme-mediated programmed cell death signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of granzyme B location in T cell secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in maintenance of protease location in mast cell secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mast cell secretory granule organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of bone mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in secretory granule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytolytic granule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular matrix HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mast cell granule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    serglycin
    Names
    hematopoetic proteoglycan core peptide
    hematopoetic proteoglycan core protein
    hematopoietic proteoglycan core protein
    p.PG
    platelet proteoglycan core protein
    proteoglycan 1, secretory granule
    proteoglycan protein core for mast cell secretory granule
    secretory granule proteoglycan core peptide
    secretory granule proteoglycan core protein
    serglycin proteoglycan

    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_001321053.2NP_001307982.1  serglycin isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 3 encode isoform 1.
      Source sequence(s)
      AL442635, BC015516, BP363056
      Consensus CDS
      CCDS7285.1
      UniProtKB/Swiss-Prot
      B2R4L7, P10124, Q5VW06
      Conserved Domains (1) summary
      pfam04360
      Location:3150
      Serglycin
    2. NM_001321054.1NP_001307983.1  serglycin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon in the coding region resulting in a frameshift compared to variant 1. The encoded isoform (2) is shorter, has a distinct N-terminus, and lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AI347627, AL442635, BC015516, BP335278, BQ051861, CD677686
      UniProtKB/Swiss-Prot
      P10124
      Conserved Domains (1) summary
      pfam04360
      Location:2294
      Serglycin; Serglycin
    3. NM_002727.4NP_002718.2  serglycin isoform 1 precursor

      See identical proteins and their annotated locations for NP_002718.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an exon in the 5' UTR compared to variant 2. Both variants 1 and 3 encode isoform 1.
      Source sequence(s)
      BC015516, BG057351, BG548665, CA308463, CB110512
      Consensus CDS
      CCDS7285.1
      UniProtKB/Swiss-Prot
      B2R4L7, P10124, Q5VW06
      Related
      ENSP00000242465.3, ENST00000242465.4
      Conserved Domains (1) summary
      pfam04360
      Location:3150
      Serglycin

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      69087603..69104811
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      69925937..69973238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366246.1XP_054222221.1  serglycin isoform X1

    2. XM_054366247.1XP_054222222.1  serglycin isoform X1

    3. XM_054366248.1XP_054222223.1  serglycin isoform X1