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UniProtKB - P02748 (CO9_HUMAN)

Protein

Complement component C9

Gene

C9

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

Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934).4 Publications

<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 - 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

Biological processComplement alternate pathway, Complement pathway, Cytolysis, Immunity, Innate immunity

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-166665 Terminal pathway of complement
R-HSA-977606 Regulation of Complement cascade

<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:
Complement component C9
Cleaved into the following 2 chains:
Complement component C9a
Complement component C9b
<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:C9
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000113600.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:1358 C9

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		120940 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P02748

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei314 – 330Beta strandedSequence analysisAdd BLAST17
Transmembranei335 – 354Beta strandedSequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane, Membrane attack complex, Secreted, Target cell membrane, Target membrane

<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

Complement component 9 deficiency (C9D)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis.
See also OMIM:613825
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_012648119C → G in C9D. 1 PublicationCorresponds to variant dbSNP:rs121909593EnsemblClinVar.1
Macular degeneration, age-related, 15 (ARMD15)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:615591
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070940167P → S in ARMD15. 1 PublicationCorresponds to variant dbSNP:rs34882957EnsemblClinVar.1

Keywords - Diseasei

Age-related macular degeneration, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		735

MalaCards human disease database

More...MalaCardsi		C9
MIMi613825 phenotype
615591 phenotype

Open Targets

More...OpenTargetsi		ENSG00000113600

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

More...Orphaneti		169150 Immunodeficiency due to a late component of complement deficiency
279 NON RARE IN EUROPE: Age-related macular degeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25968

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		C9

Domain mapping of disease mutations (DMDM)

More...DMDMi		1352108

<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 – 211 PublicationAdd BLAST21
<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_000002360222 – 559Complement component C9Add BLAST538
ChainiPRO_000002360322 – 265Complement component C9aAdd BLAST244
ChainiPRO_0000023604266 – 559Complement component C9bAdd BLAST294

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 bondi43 ↔ 781 Publication
<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>Glycosylationi48C-linked (Man) tryptophan1 Publication1
Glycosylationi51C-linked (Man) tryptophan; partial1 Publication1
Disulfide bondi54 ↔ 571 Publication
Disulfide bondi88 ↔ 941 Publication
Disulfide bondi101 ↔ 1121 Publication
Disulfide bondi107 ↔ 1251 Publication
Disulfide bondi119 ↔ 1341 Publication
Disulfide bondi142 ↔ 1811 Publication
Disulfide bondi254 ↔ 2551 Publication
Glycosylationi277N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi380 ↔ 4051 Publication
Glycosylationi415N-linked (GlcNAc...) (complex) asparagine6 Publications1
Disulfide bondi510 ↔ 5261 Publication
Disulfide bondi513 ↔ 5281 Publication
Disulfide bondi530 ↔ 5391 Publication

<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

Thrombin cleaves factor C9 to produce C9a and C9b.1 Publication
Phosphorylation sites are present in the extracellular medium.

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>Sitei265 – 266Cleavage; by thrombin2

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...MaxQBi		P02748

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

More...PaxDbi		P02748

PeptideAtlas

More...PeptideAtlasi		P02748

PRoteomics IDEntifications database

More...PRIDEi		P02748

ProteomicsDB human proteome resource

More...ProteomicsDBi		51564

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1150

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P02748

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

More...PhosphoSitePlusi		P02748

<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 (at protein level).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000113600 Expressed in 60 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...CleanExi		HS_C9

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P02748 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB002151
HPA029577

<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

Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9 (PubMed:22832194). About 20 C9 chains oligomerize to give rise to a huge beta-barrel that forms a 100 Angstrom diameter pore in target membranes (PubMed:26841934).2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107196, 6 interactors

Database of interacting proteins

More...DIPi		DIP-1124N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P02748

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263408

<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

More...ProteinModelPortali		P02748

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

More...SMRi		P02748

Database of comparative protein structure models

More...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

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>Domaini42 – 95TSP type-1PROSITE-ProRule annotationAdd BLAST54
Domaini99 – 136LDL-receptor class APROSITE-ProRule annotationAdd BLAST38
Domaini138 – 509MACPFPROSITE-ProRule annotationAdd BLAST372
Domaini510 – 540EGF-likeAdd BLAST31

<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 complement C6/C7/C8/C9 family.Curated

Keywords - Domaini

EGF-like domain, Signal, Transmembrane, Transmembrane beta strand

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IH3C Eukaryota
ENOG410XT9A LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159777

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000111869

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG106792

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P02748

KEGG Orthology (KO)

More...KOi		K04000

Identification of Orthologs from Complete Genome Data

More...OMAi		GINILGM

Database of Orthologous Groups

More...OrthoDBi		EOG091G07LK

Database for complete collections of gene phylogenies

More...PhylomeDBi		P02748

TreeFam database of animal gene trees

More...TreeFami		TF330498

Family and domain databases

Conserved Domains Database

More...CDDi		cd00112 LDLa, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.20.100.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037567 Complement_C9
IPR009030 Growth_fac_rcpt_cys_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR001862 MAC_perforin
IPR020864 MACPF
IPR020863 MACPF_CS
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf

The PANTHER Classification System

More...PANTHERi		PTHR19325:SF362 PTHR19325:SF362, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF01823 MACPF, 1 hit
PF00090 TSP_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00764 COMPLEMENTC9

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00192 LDLa, 1 hit
SM00457 MACPF, 1 hit
SM00209 TSP1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57184 SSF57184, 1 hit
SSF57424 SSF57424, 1 hit
SSF82895 SSF82895, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS01209 LDLRA_1, 1 hit
PS50068 LDLRA_2, 1 hit
PS00279 MACPF_1, 1 hit
PS51412 MACPF_2, 1 hit
PS50092 TSP1, 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>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.

P02748-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSACRSFAVA ICILEISILT AQYTTSYDPE LTESSGSASH IDCRMSPWSE 
        60         70         80         90        100
WSQCDPCLRQ MFRSRSIEVF GQFNGKRCTD AVGDRRQCVP TEPCEDAEDD 
       110        120        130        140        150
CGNDFQCSTG RCIKMRLRCN GDNDCGDFSD EDDCESEPRP PCRDRVVEES 
       160        170        180        190        200
ELARTAGYGI NILGMDPLST PFDNEFYNGL CNRDRDGNTL TYYRRPWNVA 
       210        220        230        240        250
SLIYETKGEK NFRTEHYEEQ IEAFKSIIQE KTSNFNAAIS LKFTPTETNK 
       260        270        280        290        300
AEQCCEETAS SISLHGKGSF RFSYSKNETY QLFLSYSSKK EKMFLHVKGE 
       310        320        330        340        350
IHLGRFVMRN RDVVLTTTFV DDIKALPTTY EKGEYFAFLE TYGTHYSSSG 
       360        370        380        390        400
SLGGLYELIY VLDKASMKRK GVELKDIKRC LGYHLDVSLA FSEISVGAEF 
       410        420        430        440        450
NKDDCVKRGE GRAVNITSEN LIDDVVSLIR GGTRKYAFEL KEKLLRGTVI 
       460        470        480        490        500
DVTDFVNWAS SINDAPVLIS QKLSPIYNLV PVKMKNAHLK KQNLERAIED 
       510        520        530        540        550
YINEFSVRKC HTCQNGGTVI LMDGKCLCAC PFKFEGIACE ISKQKISEGL 

PALEFPNEK
Length:559
Mass (Da):63,173
Last modified:February 1, 1996 - 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:i7403F6AD77B3ECE1
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 conflicti43C → R in AAA51889 (PubMed:6095282).Curated1
Sequence conflicti314Missing in AAA51889 (PubMed:6095282).Curated1
Sequence conflicti417T → P in AAA51889 (PubMed:6095282).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0220245R → W. Corresponds to variant dbSNP:rs700233EnsemblClinVar.1
Natural variantiVAR_012648119C → G in C9D. 1 PublicationCorresponds to variant dbSNP:rs121909593EnsemblClinVar.1
Natural variantiVAR_050481127D → Y. Corresponds to variant dbSNP:rs696763EnsemblClinVar.1
Natural variantiVAR_070940167P → S in ARMD15. 1 PublicationCorresponds to variant dbSNP:rs34882957EnsemblClinVar.1
Natural variantiVAR_027651203I → V. Corresponds to variant dbSNP:rs13361416Ensembl.1
Natural variantiVAR_033802279T → S. Corresponds to variant dbSNP:rs34625111Ensembl.1
Natural variantiVAR_061503427S → T. Corresponds to variant dbSNP:rs34421659Ensembl.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
X02176 mRNA Translation: CAA26117.1
BC020721 mRNA Translation: AAH20721.1
K02766 mRNA Translation: AAA51889.1
J02833 Genomic DNA Translation: AAA51890.1
Y08545
, Y08546, Y08547, Y08548, Y08549, Y08550, Y08551, Y08552, Y08553, Y08554 Genomic DNA Translation: CAA69849.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3929.1

Protein sequence database of the Protein Information Resource

More...PIRi		A59363 C9HU

NCBI Reference Sequences

More...RefSeqi		NP_001728.1, NM_001737.4

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.654443

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263408; ENSP00000263408; ENSG00000113600

Database of genes from NCBI RefSeq genomes

More...GeneIDi		735

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:735

UCSC genome browser

More...UCSCi		uc003jlv.5 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

C9base

C9 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02176 mRNA Translation: CAA26117.1
BC020721 mRNA Translation: AAH20721.1
K02766 mRNA Translation: AAA51889.1
J02833 Genomic DNA Translation: AAA51890.1
Y08545
, Y08546, Y08547, Y08548, Y08549, Y08550, Y08551, Y08552, Y08553, Y08554 Genomic DNA Translation: CAA69849.1
CCDSiCCDS3929.1
PIRiA59363 C9HU
RefSeqiNP_001728.1, NM_001737.4
UniGeneiHs.654443

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
5FMWelectron microscopy6.70A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V39-544[»]
6DLWelectron microscopy3.90A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V22-559[»]
ProteinModelPortaliP02748
SMRiP02748
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107196, 6 interactors
DIPiDIP-1124N
ELMiP02748
STRINGi9606.ENSP00000263408

PTM databases

GlyConnecti1150
iPTMnetiP02748
PhosphoSitePlusiP02748

Polymorphism and mutation databases

BioMutaiC9
DMDMi1352108

Proteomic databases

MaxQBiP02748
PaxDbiP02748
PeptideAtlasiP02748
PRIDEiP02748
ProteomicsDBi51564

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		735
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263408; ENSP00000263408; ENSG00000113600
GeneIDi735
KEGGihsa:735
UCSCiuc003jlv.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		735
DisGeNETi735
EuPathDBiHostDB:ENSG00000113600.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		C9
HGNCiHGNC:1358 C9
HPAiCAB002151
HPA029577
MalaCardsiC9
MIMi120940 gene
613825 phenotype
615591 phenotype
neXtProtiNX_P02748
OpenTargetsiENSG00000113600
Orphaneti169150 Immunodeficiency due to a late component of complement deficiency
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA25968

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IH3C Eukaryota
ENOG410XT9A LUCA
GeneTreeiENSGT00940000159777
HOGENOMiHOG000111869
HOVERGENiHBG106792
InParanoidiP02748
KOiK04000
OMAiGINILGM
OrthoDBiEOG091G07LK
PhylomeDBiP02748
TreeFamiTF330498

Enzyme and pathway databases

ReactomeiR-HSA-166665 Terminal pathway of complement
R-HSA-977606 Regulation of Complement cascade

Miscellaneous databases

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

More...ChiTaRSi		C9 human

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

More...GenomeRNAii		735

Protein Ontology

More...PROi		PR:P02748

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000113600 Expressed in 60 organ(s), highest expression level in liver
CleanExiHS_C9
GenevisibleiP02748 HS

Family and domain databases

CDDicd00112 LDLa, 1 hit
Gene3Di2.20.100.10, 1 hit
InterProiView protein in InterPro
IPR037567 Complement_C9
IPR009030 Growth_fac_rcpt_cys_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR001862 MAC_perforin
IPR020864 MACPF
IPR020863 MACPF_CS
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PANTHERiPTHR19325:SF362 PTHR19325:SF362, 1 hit
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF01823 MACPF, 1 hit
PF00090 TSP_1, 1 hit
PRINTSiPR00764 COMPLEMENTC9
SMARTiView protein in SMART
SM00192 LDLa, 1 hit
SM00457 MACPF, 1 hit
SM00209 TSP1, 1 hit
SUPFAMiSSF57184 SSF57184, 1 hit
SSF57424 SSF57424, 1 hit
SSF82895 SSF82895, 1 hit
PROSITEiView protein in PROSITE
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 1 hit
PS01209 LDLRA_1, 1 hit
PS50068 LDLRA_2, 1 hit
PS00279 MACPF_1, 1 hit
PS51412 MACPF_2, 1 hit
PS50092 TSP1, 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 nameiCO9_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: P02748
<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: July 21, 1986
Last sequence update: February 1, 1996
Last modified: December 5, 2018
This is version 194 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

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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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