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Protein

Serpin H1

Gene

SERPINH1

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

Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.

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>Sitei377 – 378Reactive bond homologBy 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

  • collagen binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • serine-type endopeptidase inhibitor activity Source: GO_Central
  • unfolded protein binding Source: Ensembl

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 functionChaperone
Biological processStress response

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1650814 Collagen biosynthesis and modifying enzymes

Protein family/group databases

MEROPS protease database

More...
MEROPSi
I04.035

<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:
Serpin H1
Alternative name(s):
47 kDa heat shock protein
Arsenic-transactivated protein 3
Short name:
AsTP3
Cell proliferation-inducing gene 14 protein
Collagen-binding protein
Short name:
Colligin
Rheumatoid arthritis-related antigen RA-A47
<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:SERPINH1
Synonyms:CBP1, CBP2, HSP47, SERPINH2
ORF Names:PIG14
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000149257.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1546 SERPINH1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600943 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50454

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

<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

Osteogenesis imperfecta 10 (OI10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.
See also OMIM:613848
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_06360278L → P in OI10. 1 PublicationCorresponds to variant dbSNP:rs137853892EnsemblClinVar.1

Keywords - Diseasei

Osteogenesis imperfecta

Organism-specific databases

DisGeNET

More...
DisGeNETi
871

MalaCards human disease database

More...
MalaCardsi
SERPINH1
MIMi610504 phenotype
613848 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149257

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
216812 Osteogenesis imperfecta type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35034

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5286

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SERPINH1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20141241

<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 – 18Sequence analysisAdd BLAST18
<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_000003252019 – 418Serpin H1Add BLAST400

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 residuei94N6-succinyllysineBy similarity1
<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>Glycosylationi120N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei141PhosphoserineCombined sources1
Modified residuei207N6-acetyllysineBy similarity1
Modified residuei296N6-succinyllysineBy similarity1
Modified residuei319N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P50454

MaxQB - The MaxQuant DataBase

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MaxQBi
P50454

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

More...
PaxDbi
P50454

PeptideAtlas

More...
PeptideAtlasi
P50454

PRoteomics IDEntifications database

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PRIDEi
P50454

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56229

Consortium for Top Down Proteomics

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TopDownProteomicsi
P50454

2D gel databases

DOSAC-COBS 2D-PAGE database

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DOSAC-COBS-2DPAGEi
P50454

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
P50454

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
658

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P50454

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

More...
PhosphoSitePlusi
P50454

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P50454

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P50454

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By heat shock.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000149257 Expressed in 216 organ(s), highest expression level in smooth muscle tissue

CleanEx database of gene expression profiles

More...
CleanExi
HS_SERPINH1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P50454 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P50454 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB004441
HPA029198

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107318, 103 interactors

Protein interaction database and analysis system

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IntActi
P50454, 35 interactors

Molecular INTeraction database

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MINTi
P50454

STRING: functional protein association networks

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STRINGi
9606.ENSP00000350894

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P50454

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P50454

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

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SMRi
P50454

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi415 – 418Prevents secretion from ERPROSITE-ProRule annotation4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi25 – 29Poly-Ala5

<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

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2392 Eukaryota
COG4826 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156163

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG104930

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P50454

KEGG Orthology (KO)

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KOi
K09501

Identification of Orthologs from Complete Genome Data

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OMAi
GVPMMHR

Database of Orthologous Groups

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OrthoDBi
EOG091G08O0

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P50454

TreeFam database of animal gene trees

More...
TreeFami
TF343094

Family and domain databases

Conserved Domains Database

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CDDi
cd02046 hsp47, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR033830 Serpin_H1_domain
IPR036186 Serpin_sf
IPR033547 SERPINH1

The PANTHER Classification System

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PANTHERi
PTHR11461 PTHR11461, 1 hit
PTHR11461:SF27 PTHR11461:SF27, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00079 Serpin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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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
PS00014 ER_TARGET, 1 hit
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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<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.

This entry has 1 described isoform and 12 potential isoforms that are computationally mapped.Show allAlign All

P50454-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL
60 70 80 90 100
AFSLYQAMAK DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE
110 120 130 140 150
QLRDEEVHAG LGELLRSLSN STARNVTWKL GSRLYGPSSV SFADDFVRSS
160 170 180 190 200
KQHYNCEHSK INFRDKRSAL QSINEWAAQT TDGKLPEVTK DVERTDGALL
210 220 230 240 250
VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT GLYNYYDDEK
260 270 280 290 300
EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK
310 320 330 340 350
AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS
360 370 380 390 400
VFHATAFELD TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL
410
LFIGRLVRPK GDKMRDEL
Length:418
Mass (Da):46,441
Last modified:January 23, 2002 - v2
<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:iB7719FCA13A55DEB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPV6E9PPV6_HUMAN
Serpin H1
SERPINH1
324Annotation score:

Annotation score:2 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>
E9PK86E9PK86_HUMAN
Serpin H1
SERPINH1
247Annotation score:

Annotation score:2 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>
E9PNX1E9PNX1_HUMAN
Serpin H1
SERPINH1
203Annotation score:

Annotation score:2 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>
E9PMI5E9PMI5_HUMAN
Serpin H1
SERPINH1
249Annotation score:

Annotation score:2 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>
E9PR70E9PR70_HUMAN
Serpin H1
SERPINH1
295Annotation score:

Annotation score:2 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>
E9PIG2E9PIG2_HUMAN
Serpin H1
SERPINH1
165Annotation score:

Annotation score:2 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>
E9PJH8E9PJH8_HUMAN
Serpin H1
SERPINH1
150Annotation score:

Annotation score:2 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>
E9PRS3E9PRS3_HUMAN
Serpin H1
SERPINH1
166Annotation score:

Annotation score:2 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>
E9PQ34E9PQ34_HUMAN
Serpin H1
SERPINH1
142Annotation score:

Annotation score:1 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>
E9PLA6E9PLA6_HUMAN
Serpin H1
SERPINH1
85Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

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 conflicti7 – 10LSAF → GTL in CAA43795 (PubMed:1309665).Curated4
Sequence conflicti14 – 15EA → AV in CAA43795 (PubMed:1309665).Curated2
Sequence conflicti25 – 26AA → VE in CAA43795 (PubMed:1309665).Curated2
Sequence conflicti38P → S in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti41A → T in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti46 – 48RSA → PST in CAA43795 (PubMed:1309665).Curated3
Sequence conflicti164R → P in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti168 – 169SA → RP in BAA11829 (PubMed:7656593).Curated2
Sequence conflicti235M → T in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti255I → L in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti270L → F in AAH70087 (PubMed:15489334).Curated1
Sequence conflicti409P → L in CAA43795 (PubMed:1309665).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIMi:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02844541A → P. Corresponds to variant dbSNP:rs7105528Ensembl.1
Natural variantiVAR_06360278L → P in OI10. 1 PublicationCorresponds to variant dbSNP:rs137853892EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
X61598 mRNA Translation: CAA43795.1
D83174 mRNA Translation: BAA11829.1
AB044778 mRNA Translation: BAA96788.1
AB044779 mRNA Translation: BAA96789.1
AY744367 mRNA Translation: AAU95378.1
AY264853 mRNA Translation: AAP93914.1
BT007094 mRNA Translation: AAP35758.1
AK122936 mRNA Translation: BAG53805.1
CH471076 Genomic DNA Translation: EAW74974.1
BC014623 mRNA Translation: AAH14623.1
BC036298 mRNA Translation: AAH36298.2
BC070087 mRNA Translation: AAH70087.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8239.1

Protein sequence database of the Protein Information Resource

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PIRi
I52968
S20608

NCBI Reference Sequences

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RefSeqi
NP_001193943.1, NM_001207014.1
NP_001226.2, NM_001235.3
XP_011543629.1, XM_011545327.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.596449

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000358171; ENSP00000350894; ENSG00000149257
ENST00000524558; ENSP00000434412; ENSG00000149257
ENST00000533603; ENSP00000434657; ENSG00000149257

Database of genes from NCBI RefSeq genomes

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GeneIDi
871

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:871

UCSC genome browser

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UCSCi
uc001owr.4 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Osteogenesis imperfecta variant database

Serpin H1 (SERPINH1)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X61598 mRNA Translation: CAA43795.1
D83174 mRNA Translation: BAA11829.1
AB044778 mRNA Translation: BAA96788.1
AB044779 mRNA Translation: BAA96789.1
AY744367 mRNA Translation: AAU95378.1
AY264853 mRNA Translation: AAP93914.1
BT007094 mRNA Translation: AAP35758.1
AK122936 mRNA Translation: BAG53805.1
CH471076 Genomic DNA Translation: EAW74974.1
BC014623 mRNA Translation: AAH14623.1
BC036298 mRNA Translation: AAH36298.2
BC070087 mRNA Translation: AAH70087.1
CCDSiCCDS8239.1
PIRiI52968
S20608
RefSeqiNP_001193943.1, NM_001207014.1
NP_001226.2, NM_001235.3
XP_011543629.1, XM_011545327.1
UniGeneiHs.596449

3D structure databases

ProteinModelPortaliP50454
SMRiP50454
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107318, 103 interactors
IntActiP50454, 35 interactors
MINTiP50454
STRINGi9606.ENSP00000350894

Chemistry databases

BindingDBiP50454
ChEMBLiCHEMBL5286

Protein family/group databases

MEROPSiI04.035

PTM databases

GlyConnecti658
iPTMnetiP50454
PhosphoSitePlusiP50454
SwissPalmiP50454
UniCarbKBiP50454

Polymorphism and mutation databases

BioMutaiSERPINH1
DMDMi20141241

2D gel databases

DOSAC-COBS-2DPAGEiP50454
UCD-2DPAGEiP50454

Proteomic databases

EPDiP50454
MaxQBiP50454
PaxDbiP50454
PeptideAtlasiP50454
PRIDEiP50454
ProteomicsDBi56229
TopDownProteomicsiP50454

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
871
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358171; ENSP00000350894; ENSG00000149257
ENST00000524558; ENSP00000434412; ENSG00000149257
ENST00000533603; ENSP00000434657; ENSG00000149257
GeneIDi871
KEGGihsa:871
UCSCiuc001owr.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
871
DisGeNETi871
EuPathDBiHostDB:ENSG00000149257.13

GeneCards: human genes, protein and diseases

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GeneCardsi
SERPINH1
HGNCiHGNC:1546 SERPINH1
HPAiCAB004441
HPA029198
MalaCardsiSERPINH1
MIMi600943 gene
610504 phenotype
613848 phenotype
neXtProtiNX_P50454
OpenTargetsiENSG00000149257
Orphaneti216812 Osteogenesis imperfecta type 3
PharmGKBiPA35034

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2392 Eukaryota
COG4826 LUCA
GeneTreeiENSGT00940000156163
HOVERGENiHBG104930
InParanoidiP50454
KOiK09501
OMAiGVPMMHR
OrthoDBiEOG091G08O0
PhylomeDBiP50454
TreeFamiTF343094

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SERPINH1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Heat_shock_protein_47

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

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GenomeRNAii
871

Protein Ontology

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PROi
PR:P50454

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000149257 Expressed in 216 organ(s), highest expression level in smooth muscle tissue
CleanExiHS_SERPINH1
ExpressionAtlasiP50454 baseline and differential
GenevisibleiP50454 HS

Family and domain databases

CDDicd02046 hsp47, 1 hit
InterProiView protein in InterPro
IPR023795 Serpin_CS
IPR023796 Serpin_dom
IPR000215 Serpin_fam
IPR033830 Serpin_H1_domain
IPR036186 Serpin_sf
IPR033547 SERPINH1
PANTHERiPTHR11461 PTHR11461, 1 hit
PTHR11461:SF27 PTHR11461:SF27, 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
PS00014 ER_TARGET, 1 hit
PS00284 SERPIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiSERPH_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: P50454
Secondary accession number(s): B3KVJ3
, P29043, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
<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: October 1, 1996
Last sequence update: January 23, 2002
Last modified: December 5, 2018
This is version 191 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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