Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 207 (31 Jul 2019)
Sequence version 3 (01 Nov 1991)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Heparin cofactor 2

Gene

SERPIND1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.1 Publication
Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei463 – 464Reactive bondBy similarity2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHeparin-binding, Protease inhibitor, Serine protease inhibitor
Biological processBlood coagulation, Chemotaxis, Hemostasis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation
R-HSA-140875 Common Pathway of Fibrin Clot Formation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P05546

Protein family/group databases

MEROPS protease database

More...
MEROPSi
I04.019

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Heparin cofactor 2
Alternative name(s):
Heparin cofactor II
Short name:
HC-II
Protease inhibitor leuserpin-2
Short name:
HLS2
Serpin D1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SERPIND1
Synonyms:HCF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4838 SERPIND1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
142360 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P05546

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Thrombophilia due to heparin cofactor 2 deficiency (THPH10)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hemostatic disorder characterized by a tendency to recurrent thrombosis.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_007112208R → H in THPH10; Oslo; decreased affinity for dermatan sulfate. 2 PublicationsCorresponds to variant dbSNP:rs5907EnsemblClinVar.1
Natural variantiVAR_054977447E → K in THPH10. 1 PublicationCorresponds to variant dbSNP:rs142451096Ensembl.1
Natural variantiVAR_054978462P → L in THPH10; Tokushima; impaired secretion of the mutant molecules. 1 PublicationCorresponds to variant dbSNP:rs121912420EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi122R → L: Normal thrombin inhibition and glycosaminoglycan affinity. 1 Publication1
Mutagenesisi122R → Q: Greatly reduced thrombin inhibition. Normal glycosaminoglycan affinity. 1 Publication1
Mutagenesisi122R → W: Greatly reduced thrombin inhibition. Normal glycosaminoglycan affinity. 1 Publication1
Mutagenesisi204K → M: Reduced heparin- and no dermatan sulfate-activated inhibition. 1 Publication1
Mutagenesisi204K → N: Reduced heparin- and no dermatan sulfate-activated inhibition. 1 Publication1
Mutagenesisi204K → T: Reduced heparin- and no dermatan sulfate-activated inhibition. 1 Publication1

Keywords - Diseasei

Disease mutation, Thrombophilia

Organism-specific databases

DisGeNET

More...
DisGeNETi
3053

MalaCards human disease database

More...
MalaCardsi
SERPIND1
MIMi612356 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000099937

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35053

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00407 Ardeparin
DB06271 Sulodexide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SERPIND1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
123055

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 191 PublicationAdd BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003249420 – 499Heparin cofactor 2Add BLAST480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei37Phosphoserine; by FAM20C1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi49N-linked (GlcNAc...) (complex) asparagine3 Publications1
Modified residuei79Sulfotyrosine1 Publication1
Modified residuei92Sulfotyrosine1 Publication1
Glycosylationi188N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi387N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by FAM20C in the extracellular medium.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein, Sulfation

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-1508
non-CPTAC-1132

Encyclopedia of Proteome Dynamics

More...
EPDi
P05546

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P05546

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P05546

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P05546

PeptideAtlas

More...
PeptideAtlasi
P05546

PRoteomics IDEntifications database

More...
PRIDEi
P05546

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51846

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
695

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P05546

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P05546

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P05546

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed predominantly in liver. Also present in plasma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000099937 Expressed in 81 organ(s), highest expression level in liver

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P05546 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB008639
HPA055767

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109303, 4 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P05546

Protein interaction database and analysis system

More...
IntActi
P05546, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000215727

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1499
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P05546

Database of comparative protein structure models

More...
ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P05546

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati73 – 831Add BLAST11
Repeati87 – 972Add BLAST11

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni68 – 79Chemotactic activityAdd BLAST12
Regioni73 – 972 X 11 AA approximate repeats, Asp/Glu-rich (acidic) (hirudin-like)Add BLAST25
Regioni192 – 212Glycosaminoglycan-binding siteAdd BLAST21

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal acidic repeat region mediates, in part, the glycosaminoglycan-accelerated thrombin inhibition.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2392 Eukaryota
COG4826 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158664

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000294159

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P05546

KEGG Orthology (KO)

More...
KOi
K03912

Identification of Orthologs from Complete Genome Data

More...
OMAi
WEQKFPK

Database of Orthologous Groups

More...
OrthoDBi
1047190at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P05546

TreeFam database of animal gene trees

More...
TreeFami
TF343094

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02047 HCII, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.39.10, 1 hit
3.30.497.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033831 HCII
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
IPR042178 Serpin_sf_1
IPR042185 Serpin_sf_2

The PANTHER Classification System

More...
PANTHERi
PTHR11461 PTHR11461, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00079 Serpin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00093 SERPIN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56574 SSF56574, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00284 SERPIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

P05546-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKHSLNALLI FLIITSAWGG SKGPLDQLEK GGETAQSADP QWEQLNNKNL
60 70 80 90 100
SMPLLPADFH KENTVTNDWI PEGEEDDDYL DLEKIFSEDD DYIDIVDSLS
110 120 130 140 150
VSPTDSDVSA GNILQLFHGK SRIQRLNILN AKFAFNLYRV LKDQVNTFDN
160 170 180 190 200
IFIAPVGIST AMGMISLGLK GETHEQVHSI LHFKDFVNAS SKYEITTIHN
210 220 230 240 250
LFRKLTHRLF RRNFGYTLRS VNDLYIQKQF PILLDFKTKV REYYFAEAQI
260 270 280 290 300
ADFSDPAFIS KTNNHIMKLT KGLIKDALEN IDPATQMMIL NCIYFKGSWV
310 320 330 340 350
NKFPVEMTHN HNFRLNEREV VKVSMMQTKG NFLAANDQEL DCDILQLEYV
360 370 380 390 400
GGISMLIVVP HKMSGMKTLE AQLTPRVVER WQKSMTNRTR EVLLPKFKLE
410 420 430 440 450
KNYNLVESLK LMGIRMLFDK NGNMAGISDQ RIAIDLFKHQ GTITVNEEGT
460 470 480 490
QATTVTTVGF MPLSTQVRFT VDRPFLFLIY EHRTSCLLFM GRVANPSRS
Length:499
Mass (Da):57,071
Last modified:November 1, 1991 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3B0E353FE1F6DF05
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAG30459 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti49Missing AA sequence (PubMed:3907702).Curated1
Sequence conflicti483R → P AA sequence (PubMed:3907702).Curated1
Sequence conflicti486C → T AA sequence (PubMed:3907702).Curated1
Sequence conflicti499S → Q AA sequence (PubMed:3907702).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0117467A → T1 PublicationCorresponds to variant dbSNP:rs5905Ensembl.1
Natural variantiVAR_01174760H → P. Corresponds to variant dbSNP:rs165867Ensembl.1
Natural variantiVAR_05195387S → N. Corresponds to variant dbSNP:rs34324685Ensembl.1
Natural variantiVAR_051954129L → V. Corresponds to variant dbSNP:rs11542069Ensembl.1
Natural variantiVAR_007112208R → H in THPH10; Oslo; decreased affinity for dermatan sulfate. 2 PublicationsCorresponds to variant dbSNP:rs5907EnsemblClinVar.1
Natural variantiVAR_011748237K → R. Corresponds to variant dbSNP:rs1042435Ensembl.1
Natural variantiVAR_011749442T → M1 PublicationCorresponds to variant dbSNP:rs5904Ensembl.1
Natural variantiVAR_054977447E → K in THPH10. 1 PublicationCorresponds to variant dbSNP:rs142451096Ensembl.1
Natural variantiVAR_054978462P → L in THPH10; Tokushima; impaired secretion of the mutant molecules. 1 PublicationCorresponds to variant dbSNP:rs121912420EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M12849 mRNA Translation: AAA52642.1
M58600 Genomic DNA Translation: AAA52641.1
CR456573 mRNA Translation: CAG30459.1 Different initiation.
AK314200 mRNA Translation: BAG36878.1
CH471176 Genomic DNA Translation: EAX02941.1
CH471176 Genomic DNA Translation: EAX02942.1
X03498 mRNA Translation: CAA27218.1
M33660 Genomic DNA Translation: AAA36185.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13783.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A37924

NCBI Reference Sequences

More...
RefSeqi
NP_000176.2, NM_000185.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000215727; ENSP00000215727; ENSG00000099937
ENST00000406799; ENSP00000384050; ENSG00000099937

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3053

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3053

UCSC genome browser

More...
UCSCi
uc002ztb.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M12849 mRNA Translation: AAA52642.1
M58600 Genomic DNA Translation: AAA52641.1
CR456573 mRNA Translation: CAG30459.1 Different initiation.
AK314200 mRNA Translation: BAG36878.1
CH471176 Genomic DNA Translation: EAX02941.1
CH471176 Genomic DNA Translation: EAX02942.1
X03498 mRNA Translation: CAA27218.1
M33660 Genomic DNA Translation: AAA36185.1
CCDSiCCDS13783.1
PIRiA37924
RefSeqiNP_000176.2, NM_000185.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JMJX-ray2.35A/B20-499[»]
1JMOX-ray2.20A20-499[»]
2NATNMR-A192-219[»]
2NCUNMR-A192-212[»]
2NCVNMR-A192-212[»]
2NCWNMR-A189-212[»]
6J12NMR-A192-219[»]
SMRiP05546
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109303, 4 interactors
CORUMiP05546
IntActiP05546, 5 interactors
STRINGi9606.ENSP00000215727

Chemistry databases

DrugBankiDB00407 Ardeparin
DB06271 Sulodexide

Protein family/group databases

MEROPSiI04.019

PTM databases

GlyConnecti695
iPTMnetiP05546
PhosphoSitePlusiP05546

Polymorphism and mutation databases

BioMutaiSERPIND1
DMDMi123055

Proteomic databases

CPTACiCPTAC-1508
non-CPTAC-1132
EPDiP05546
jPOSTiP05546
MaxQBiP05546
PaxDbiP05546
PeptideAtlasiP05546
PRIDEiP05546
ProteomicsDBi51846

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3053
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215727; ENSP00000215727; ENSG00000099937
ENST00000406799; ENSP00000384050; ENSG00000099937
GeneIDi3053
KEGGihsa:3053
UCSCiuc002ztb.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3053
DisGeNETi3053

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SERPIND1
HGNCiHGNC:4838 SERPIND1
HPAiCAB008639
HPA055767
MalaCardsiSERPIND1
MIMi142360 gene
612356 phenotype
neXtProtiNX_P05546
OpenTargetsiENSG00000099937
PharmGKBiPA35053

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00940000158664
HOGENOMiHOG000294159
InParanoidiP05546
KOiK03912
OMAiWEQKFPK
OrthoDBi1047190at2759
PhylomeDBiP05546
TreeFamiTF343094

Enzyme and pathway databases

ReactomeiR-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation
R-HSA-140875 Common Pathway of Fibrin Clot Formation
R-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation
SIGNORiP05546

Miscellaneous databases

EvolutionaryTraceiP05546

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Heparin_cofactor_II

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3053
PMAP-CutDBiP05546

Protein Ontology

More...
PROi
PR:P05546

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000099937 Expressed in 81 organ(s), highest expression level in liver
GenevisibleiP05546 HS

Family and domain databases

CDDicd02047 HCII, 1 hit
Gene3Di2.30.39.10, 1 hit
3.30.497.10, 1 hit
InterProiView protein in InterPro
IPR033831 HCII
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR036186 Serpin_sf
IPR042178 Serpin_sf_1
IPR042185 Serpin_sf_2
PANTHERiPTHR11461 PTHR11461, 1 hit
PfamiView protein in Pfam
PF00079 Serpin, 1 hit
SMARTiView protein in SMART
SM00093 SERPIN, 1 hit
SUPFAMiSSF56574 SSF56574, 1 hit
PROSITEiView protein in PROSITE
PS00284 SERPIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHEP2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P05546
Secondary accession number(s): B2RAI1, D3DX34, Q6IBZ5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1988
Last sequence update: November 1, 1991
Last modified: July 31, 2019
This is version 207 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again