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UniProtKB - O00187 (MASP2_HUMAN)

Protein

Mannan-binding lectin serine protease 2

Gene

MASP2

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

Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Selective cleavage after Arg-223 in complement component C2 (-Ser-Leu-Gly-Arg-|-Lys-Ile-Gln-Ile) and after Arg-76 in complement component C4 (-Gly-Leu-Gln-Arg-|-Ala-Leu-Glu-Ile). EC:3.4.21.104

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi67Calcium 11
Metal bindingi75Calcium 11
Metal bindingi120Calcium 11
Metal bindingi122Calcium 1; via carbonyl oxygen1
Metal bindingi123Calcium 11
Metal bindingi138Calcium 21
Metal bindingi139Calcium 2; via carbonyl oxygen1
Metal bindingi141Calcium 21
Metal bindingi158Calcium 21
Metal bindingi159Calcium 2; via carbonyl oxygen1
Metal bindingi162Calcium 2; via carbonyl oxygen1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei483Charge relay system1
Active sitei532Charge relay system1
Active sitei633Charge relay system1

<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

  • calcium-dependent protein binding Source: UniProtKB
  • calcium ion binding Source: InterPro
  • complement component C4b binding Source: BHF-UCL
  • peptidase activity Source: UniProtKB
  • serine-type endopeptidase activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionHydrolase, Protease, Serine protease
Biological processComplement pathway, Immunity, Innate immunity
LigandCalcium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.4.21.104 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-166662 Lectin pathway of complement activation
R-HSA-166663 Initial triggering of complement
R-HSA-2855086 Ficolins bind to repetitive carbohydrate structures on the target cell surface

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		O00187

Protein family/group databases

MEROPS protease database

More...MEROPSi		S01.229

<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:
Mannan-binding lectin serine protease 2 (EC:3.4.21.104)
Alternative name(s):
MBL-associated serine protease 2
Mannose-binding protein-associated serine protease 2
Short name:
MASP-2
Cleaved into the following 2 chains:
Mannan-binding lectin serine protease 2 A chain
Mannan-binding lectin serine protease 2 B chain
<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:MASP2
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000009724.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:6902 MASP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605102 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00187

<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

Secreted

<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

MASP2 deficiency (MASPD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease.
See also OMIM:613791
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_025346120D → G in MASPD; found in a patient suffering from frequent infections and chronic inflammatory disease; strongly decreases affinity for MBL2 and FCN2. 4 PublicationsCorresponds to variant dbSNP:rs72550870EnsemblClinVar.1
Natural variantiVAR_025347126P → L in MASPD. 2 PublicationsCorresponds to variant dbSNP:rs56392418EnsemblClinVar.1
Natural variantiVAR_065814156C → CHNH in MASPD. 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>Mutagenesisi74Y → A: Strongly decreases affinity for MBL2. Decreases affinity for FCN2. 1 Publication1
Mutagenesisi121Y → A: Strongly decreases affinity for MBL2, but not for FCN2. 1 Publication1
Mutagenesisi124E → A: Decreases affinity for MBL2. Slight decrease in affinity for FCN2. 1 Publication1
Mutagenesisi444R → Q: Abolishes autocatalytic cleavage. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		10747

MalaCards human disease database

More...MalaCardsi		MASP2
MIMi613791 phenotype

Open Targets

More...OpenTargetsi		ENSG00000009724

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

More...Orphaneti		331187 Immunodeficiency due to MASP-2 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30645

Chemistry databases

Drug and drug target database

More...DrugBanki		DB04527 Beta-Hydroxyasparagine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MASP2

<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 – 15Sequence analysisAdd BLAST15
<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_000002759816 – 686Mannan-binding lectin serine protease 2Add BLAST671
ChainiPRO_000002759916 – 444Mannan-binding lectin serine protease 2 A chainAdd BLAST429
ChainiPRO_0000027600445 – 686Mannan-binding lectin serine protease 2 B chainAdd BLAST242

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi72 ↔ 90
Disulfide bondi142 ↔ 156
Disulfide bondi152 ↔ 165
<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 residuei158(3R)-3-hydroxyasparagineSequence analysis1
Disulfide bondi167 ↔ 180
Disulfide bondi184 ↔ 211By similarity
Disulfide bondi241 ↔ 259By similarity
Disulfide bondi300 ↔ 348By similarity
Disulfide bondi328 ↔ 361By similarity
Disulfide bondi366 ↔ 412
Disulfide bondi396 ↔ 430
Disulfide bondi434 ↔ 552Interchain (between A and B chains)
Disulfide bondi598 ↔ 618
Disulfide bondi629 ↔ 660

<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

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.By similarity
Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has sufficient activity to effect autocatalytic cleavage.

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>Sitei444 – 445Cleavage; by autolysis1 Publication2

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Hydroxylation

Proteomic databases

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

More...PaxDbi		O00187

PeptideAtlas

More...PeptideAtlasi		O00187

PRoteomics IDEntifications database

More...PRIDEi		O00187

ProteomicsDB human proteome resource

More...ProteomicsDBi		47767
47768 [O00187-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00187

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

More...PhosphoSitePlusi		O00187

<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

Plasma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000009724 Expressed in 101 organ(s), highest expression level in right lobe of liver

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00187 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA029313
HPA029314

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked. Binds MBL2. Isoform 2 binds to MASP1. Binds SERPING1. Dimerization and MBL2 binding requires calcium ions.3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		115970, 4 interactors

Protein interaction database and analysis system

More...IntActi		O00187, 1 interactor

Molecular INTeraction database

More...MINTi		O00187

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000383690

<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

1686
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O00187

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

More...SMRi		O00187

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O00187

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 137CUB 1PROSITE-ProRule annotationAdd BLAST122
Domaini138 – 181EGF-like; calcium-bindingAdd BLAST44
Domaini184 – 296CUB 2PROSITE-ProRule annotationAdd BLAST113
Domaini298 – 363Sushi 1PROSITE-ProRule annotationAdd BLAST66
Domaini364 – 432Sushi 2PROSITE-ProRule annotationAdd BLAST69
Domaini445 – 684Peptidase S1PROSITE-ProRule annotationAdd BLAST240

<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 peptidase S1 family.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal, Sushi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3627 Eukaryota
COG5640 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153970

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG000559

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00187

KEGG Orthology (KO)

More...KOi		K03993

Identification of Orthologs from Complete Genome Data

More...OMAi		MFVDIPI

Database of Orthologous Groups

More...OrthoDBi		EOG091G02DS

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00187

TreeFam database of animal gene trees

More...TreeFami		TF330373

Family and domain databases

Conserved Domains Database

More...CDDi		cd00033 CCP, 2 hits
cd00041 CUB, 2 hits
cd00190 Tryp_SPc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.290, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000859 CUB_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR037571 MASP2
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR035914 Sperma_CUB_dom_sf
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
IPR001254 Trypsin_dom
IPR033116 TRYPSIN_SER

The PANTHER Classification System

More...PANTHERi		PTHR24255:SF10 PTHR24255:SF10, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00431 CUB, 2 hits
PF07645 EGF_CA, 1 hit
PF00084 Sushi, 2 hits
PF00089 Trypsin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00722 CHYMOTRYPSIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00032 CCP, 2 hits
SM00042 CUB, 2 hits
SM00181 EGF, 1 hit
SM00179 EGF_CA, 1 hit
SM00020 Tryp_SPc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49854 SSF49854, 2 hits
SSF50494 SSF50494, 1 hit
SSF57535 SSF57535, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS01180 CUB, 2 hits
PS01186 EGF_2, 1 hit
PS01187 EGF_CA, 1 hit
PS50923 SUSHI, 2 hits
PS50240 TRYPSIN_DOM, 1 hit
PS00135 TRYPSIN_SER, 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>Sequences (2)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O00187-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRLLTLLGLL CGSVATPLGP KWPEPVFGRL ASPGFPGEYA NDQERRWTLT 
        60         70         80         90        100
APPGYRLRLY FTHFDLELSH LCEYDFVKLS SGAKVLATLC GQESTDTERA 
       110        120        130        140        150
PGKDTFYSLG SSLDITFRSD YSNEKPFTGF EAFYAAEDID ECQVAPGEAP 
       160        170        180        190        200
TCDHHCHNHL GGFYCSCRAG YVLHRNKRTC SALCSGQVFT QRSGELSSPE 
       210        220        230        240        250
YPRPYPKLSS CTYSISLEEG FSVILDFVES FDVETHPETL CPYDFLKIQT 
       260        270        280        290        300
DREEHGPFCG KTLPHRIETK SNTVTITFVT DESGDHTGWK IHYTSTAQPC 
       310        320        330        340        350
PYPMAPPNGH VSPVQAKYIL KDSFSIFCET GYELLQGHLP LKSFTAVCQK 
       360        370        380        390        400
DGSWDRPMPA CSIVDCGPPD DLPSGRVEYI TGPGVTTYKA VIQYSCEETF 
       410        420        430        440        450
YTMKVNDGKY VCEADGFWTS SKGEKSLPVC EPVCGLSART TGGRIYGGQK 
       460        470        480        490        500
AKPGDFPWQV LILGGTTAAG ALLYDNWVLT AAHAVYEQKH DASALDIRMG 
       510        520        530        540        550
TLKRLSPHYT QAWSEAVFIH EGYTHDAGFD NDIALIKLNN KVVINSNITP 
       560        570        580        590        600
ICLPRKEAES FMRTDDIGTA SGWGLTQRGF LARNLMYVDI PIVDHQKCTA 
       610        620        630        640        650
AYEKPPYPRG SVTANMLCAG LESGGKDSCR GDSGGALVFL DSETERWFVG 
       660        670        680 
GIVSWGSMNC GEAGQYGVYT KVINYIPWIE NIISDF
Length:686
Mass (Da):75,702
Last modified:January 11, 2011 - v4
<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:iED952085FA115E21
GO
Isoform 2 (identifier: O00187-2) [UniParc]FASTAAdd to basket
Also known as: MAp19, Small MBL-associated protein, sMAP

The sequence of this isoform differs from the canonical sequence as follows:
     182-185: ALCS → EQSL
     186-686: Missing.

Show »
Length:185
Mass (Da):20,629
Checksum:i73B133D56FB229C2
GO

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 conflicti41N → S in BAF83512 (PubMed:14702039).Curated1
Sequence conflicti225L → P in BAF83512 (PubMed:14702039).Curated1
Sequence conflicti298 – 299QP → HA in CAA71059 (PubMed:9087411).Curated2
Sequence conflicti298 – 299QP → HA in CAB50733 (PubMed:10092804).Curated2
Sequence conflicti298 – 299QP → HA in CAB50735 (PubMed:10092804).Curated2
Sequence conflicti298 – 299QP → HA in CAA67050 (Ref. 4) Curated2
Sequence conflicti298 – 299QP → HA in AAG50274 (Ref. 6) Curated2
Sequence conflicti361 – 362Missing in CAB50733 (PubMed:10092804).Curated2
Sequence conflicti361 – 362Missing in CAB50735 (PubMed:10092804).Curated2
Sequence conflicti372L → LCS in CAB50733 (PubMed:10092804).Curated1
Sequence conflicti372L → LCS in CAB50735 (PubMed:10092804).Curated1
Sequence conflicti399T → A in BAF83512 (PubMed:14702039).Curated1
Sequence conflicti442G → E in AAG50274 (Ref. 6) Curated1
Sequence conflicti447G → E in AAG50274 (Ref. 6) Curated1
Sequence conflicti461 – 462Missing in CAB50733 (PubMed:10092804).Curated2
Sequence conflicti461 – 462Missing in CAB50735 (PubMed:10092804).Curated2
Sequence conflicti473L → LIL in CAB50733 (PubMed:10092804).Curated1
Sequence conflicti473L → LIL in CAB50735 (PubMed:10092804).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02534499R → Q2 PublicationsCorresponds to variant dbSNP:rs61735600EnsemblClinVar.1
Natural variantiVAR_025345118R → C2 PublicationsCorresponds to variant dbSNP:rs147270785Ensembl.1
Natural variantiVAR_025346120D → G in MASPD; found in a patient suffering from frequent infections and chronic inflammatory disease; strongly decreases affinity for MBL2 and FCN2. 4 PublicationsCorresponds to variant dbSNP:rs72550870EnsemblClinVar.1
Natural variantiVAR_025347126P → L in MASPD. 2 PublicationsCorresponds to variant dbSNP:rs56392418EnsemblClinVar.1
Natural variantiVAR_075087128T → M1 PublicationCorresponds to variant dbSNP:rs141145402EnsemblClinVar.1
Natural variantiVAR_028784155H → R. Corresponds to variant dbSNP:rs2273343Ensembl.1
Natural variantiVAR_065814156C → CHNH in MASPD. 1
Natural variantiVAR_028785371D → Y1 PublicationCorresponds to variant dbSNP:rs12711521EnsemblClinVar.1
Natural variantiVAR_028786377V → A Associated with reduced MASP2 levels in plasma; no effect on catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs2273346EnsemblClinVar.1
Natural variantiVAR_075088405V → M1 PublicationCorresponds to variant dbSNP:rs61735594Ensembl.1
Natural variantiVAR_028787439R → H. Corresponds to variant dbSNP:rs12085877EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005383182 – 185ALCS → EQSL in isoform 2. 2 Publications4
Alternative sequenceiVSP_005384186 – 686Missing in isoform 2. 2 PublicationsAdd BLAST501

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
Y09926 mRNA Translation: CAA71059.1
AB008047 mRNA Translation: BAA78616.1
Y18281 mRNA Translation: CAB50728.1
Y18282 mRNA Translation: CAB50729.1
Y18283 mRNA Translation: CAB50730.1
Y18284 mRNA Translation: CAB50731.1
Y18286 Genomic DNA Translation: CAB50732.1
Y18286 Genomic DNA Translation: CAB50733.1
Y18287 Genomic DNA Translation: CAB50734.1
Y18287 Genomic DNA Translation: CAB50735.1
X98400 mRNA Translation: CAA67050.1
AB033742 Genomic DNA Translation: BAA85658.1
AB033742 Genomic DNA Translation: BAA85659.1
AF321558 Genomic DNA Translation: AAG50275.1
AF321562
, AF321558, AF321559, AF321560, AF321561 Genomic DNA Translation: AAG50274.1
AK290823 mRNA Translation: BAF83512.1
AL109811 Genomic DNA No translation available.
AJ297949 Genomic DNA Translation: CAC17138.1
AJ297949 Genomic DNA Translation: CAC17139.1
AJ300188 Genomic DNA Translation: CAC15568.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS123.1 [O00187-1]
CCDS124.1 [O00187-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A59271

NCBI Reference Sequences

More...RefSeqi		NP_006601.2, NM_006610.3 [O00187-1]
NP_631947.1, NM_139208.2 [O00187-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.655645

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000400897; ENSP00000383690; ENSG00000009724 [O00187-1]
ENST00000400898; ENSP00000383691; ENSG00000009724 [O00187-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10747

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10747

UCSC genome browser

More...UCSCi		uc001aru.4 human [O00187-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

MASP2base

MASP2 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y09926 mRNA Translation: CAA71059.1
AB008047 mRNA Translation: BAA78616.1
Y18281 mRNA Translation: CAB50728.1
Y18282 mRNA Translation: CAB50729.1
Y18283 mRNA Translation: CAB50730.1
Y18284 mRNA Translation: CAB50731.1
Y18286 Genomic DNA Translation: CAB50732.1
Y18286 Genomic DNA Translation: CAB50733.1
Y18287 Genomic DNA Translation: CAB50734.1
Y18287 Genomic DNA Translation: CAB50735.1
X98400 mRNA Translation: CAA67050.1
AB033742 Genomic DNA Translation: BAA85658.1
AB033742 Genomic DNA Translation: BAA85659.1
AF321558 Genomic DNA Translation: AAG50275.1
AF321562
, AF321558, AF321559, AF321560, AF321561 Genomic DNA Translation: AAG50274.1
AK290823 mRNA Translation: BAF83512.1
AL109811 Genomic DNA No translation available.
AJ297949 Genomic DNA Translation: CAC17138.1
AJ297949 Genomic DNA Translation: CAC17139.1
AJ300188 Genomic DNA Translation: CAC15568.1
CCDSiCCDS123.1 [O00187-1]
CCDS124.1 [O00187-2]
PIRiA59271
RefSeqiNP_006601.2, NM_006610.3 [O00187-1]
NP_631947.1, NM_139208.2 [O00187-2]
UniGeneiHs.655645

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
1Q3XX-ray2.23A/B363-686[»]
1SZBX-ray2.50A/B16-181[»]
1ZJKX-ray2.18A287-686[»]
3TVJX-ray1.28A363-444[»]
B445-686[»]
4FXGX-ray3.75G/I291-444[»]
H/J445-686[»]
5JPMX-ray3.75G/I291-444[»]
H/J445-686[»]
ProteinModelPortaliO00187
SMRiO00187
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115970, 4 interactors
IntActiO00187, 1 interactor
MINTiO00187
STRINGi9606.ENSP00000383690

Chemistry databases

DrugBankiDB04527 Beta-Hydroxyasparagine

Protein family/group databases

MEROPSiS01.229

PTM databases

iPTMnetiO00187
PhosphoSitePlusiO00187

Polymorphism and mutation databases

BioMutaiMASP2

Proteomic databases

PaxDbiO00187
PeptideAtlasiO00187
PRIDEiO00187
ProteomicsDBi47767
47768 [O00187-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000400897; ENSP00000383690; ENSG00000009724 [O00187-1]
ENST00000400898; ENSP00000383691; ENSG00000009724 [O00187-2]
GeneIDi10747
KEGGihsa:10747
UCSCiuc001aru.4 human [O00187-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10747
DisGeNETi10747
EuPathDBiHostDB:ENSG00000009724.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		MASP2
HGNCiHGNC:6902 MASP2
HPAiHPA029313
HPA029314
MalaCardsiMASP2
MIMi605102 gene
613791 phenotype
neXtProtiNX_O00187
OpenTargetsiENSG00000009724
Orphaneti331187 Immunodeficiency due to MASP-2 deficiency
PharmGKBiPA30645

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00940000153970
HOVERGENiHBG000559
InParanoidiO00187
KOiK03993
OMAiMFVDIPI
OrthoDBiEOG091G02DS
PhylomeDBiO00187
TreeFamiTF330373

Enzyme and pathway databases

BRENDAi3.4.21.104 2681
ReactomeiR-HSA-166662 Lectin pathway of complement activation
R-HSA-166663 Initial triggering of complement
R-HSA-2855086 Ficolins bind to repetitive carbohydrate structures on the target cell surface
SABIO-RKiO00187

Miscellaneous databases

EvolutionaryTraceiO00187

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

More...GenomeRNAii		10747

Protein Ontology

More...PROi		PR:O00187

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000009724 Expressed in 101 organ(s), highest expression level in right lobe of liver
GenevisibleiO00187 HS

Family and domain databases

CDDicd00033 CCP, 2 hits
cd00041 CUB, 2 hits
cd00190 Tryp_SPc, 1 hit
Gene3Di2.60.120.290, 2 hits
InterProiView protein in InterPro
IPR000859 CUB_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR037571 MASP2
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR035914 Sperma_CUB_dom_sf
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
IPR001254 Trypsin_dom
IPR033116 TRYPSIN_SER
PANTHERiPTHR24255:SF10 PTHR24255:SF10, 1 hit
PfamiView protein in Pfam
PF00431 CUB, 2 hits
PF07645 EGF_CA, 1 hit
PF00084 Sushi, 2 hits
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00032 CCP, 2 hits
SM00042 CUB, 2 hits
SM00181 EGF, 1 hit
SM00179 EGF_CA, 1 hit
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF49854 SSF49854, 2 hits
SSF50494 SSF50494, 1 hit
SSF57535 SSF57535, 2 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS01180 CUB, 2 hits
PS01186 EGF_2, 1 hit
PS01187 EGF_CA, 1 hit
PS50923 SUSHI, 2 hits
PS50240 TRYPSIN_DOM, 1 hit
PS00135 TRYPSIN_SER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...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 nameiMASP2_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: O00187
Secondary accession number(s): A8K458
, A8MWJ2, O75754, Q5TEQ5, Q5TER0, Q96QG4, Q9BZH0, Q9H498, Q9H499, Q9UBP3, Q9UC48, Q9ULC7, Q9UMV3, Q9Y270
<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: May 30, 2000
Last sequence update: January 11, 2011
Last modified: December 5, 2018
This is version 201 of the entry and version 4 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Peptidase families
    Classification of peptidase families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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