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    SERPIND1 serpin family D member 1 [ Homo sapiens (human) ]

    Gene ID: 3053, updated on 5-Mar-2024

    Summary

    Official Symbol
    SERPIND1provided by HGNC
    Official Full Name
    serpin family D member 1provided by HGNC
    Primary source
    HGNC:HGNC:4838
    See related
    Ensembl:ENSG00000099937 MIM:142360; AllianceGenome:HGNC:4838
    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
    HC2; LS2; HCF2; HCII; HLS2; THPH10; D22S673
    Summary
    This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
    Expression
    Restricted expression toward liver (RPKM 330.2) See more
    Orthologs
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    Genomic context

    See SERPIND1 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20774113..20787720)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21182821..21196428)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21128401..21142008)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21051020-21051636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21057515-21058087 Neighboring gene transmembrane protein 191A (pseudogene) Neighboring gene BCR pseudogene 5 Neighboring gene phosphatidylinositol 4-kinase alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21089235-21089736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21105755-21106552 Neighboring gene Sharpr-MPRA regulatory region 10582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13500 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:21213217-21214026 Neighboring gene Sharpr-MPRA regulatory region 10319 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:21227050-21227239 Neighboring gene MPRA-validated peak4460 silencer Neighboring gene synaptosome associated protein 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21240059-21240559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18689 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:21278919-21279566 Neighboring gene CRK like proto-oncogene, adaptor protein Neighboring gene uncharacterized LOC124905167

    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?

    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 endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables serine-type endopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    heparin cofactor 2
    Names
    leuserpin 2
    protease inhibitor leuserpin-2
    serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1
    serpin D1
    serpin peptidase inhibitor, clade D (heparin cofactor), member 1

    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.

    Genomic

    1. NG_012076.2 RefSeqGene

      Range
      5019..18626
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_594

    mRNA and Protein(s)

    1. NM_000185.4NP_000176.2  heparin cofactor 2 precursor

      See identical proteins and their annotated locations for NP_000176.2

      Status: REVIEWED

      Source sequence(s)
      AC007308, BC035028
      Consensus CDS
      CCDS13783.1
      UniProtKB/Swiss-Prot
      B2RAI1, D3DX34, P05546, Q6IBZ5
      UniProtKB/TrEMBL
      Q8IVC0
      Related
      ENSP00000215727.5, ENST00000215727.10
      Conserved Domains (1) summary
      cd02047
      Location:62497
      HCII; Heparin cofactor II (HCII) inhibits thrombin, the final protease of the coagulation cascade. HCII is allosterically activated by binding to cell surface glycosaminoglycans (GAGs). The specificity of HCII for thrombin is conferred by a highly acidic ...

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20774113..20787720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21182821..21196428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)