U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 3053, updated on 17-Jun-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
NEW
Try the new Gene table
Try the new Transcript table

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)