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UniProtKB - P00746 (CFAD_HUMAN)

Entry version 201 (08 May 2019)
Sequence version 5 (11 Sep 2007)
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Protein

Complement factor D

Gene

CFD

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

Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.

<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 of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor. EC:3.4.21.46

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei66Charge relay system1
Active sitei114Charge relay system1
Active sitei208Charge 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

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 alternate pathway, Immunity, Innate immunity

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.4.21.46 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608 Platelet degranulation
R-HSA-173736 Alternative complement activation
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

MEROPS protease database

More...MEROPSi		S01.191

<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 factor D (EC:3.4.21.46)
Alternative name(s):
Adipsin
C3 convertase activator
Properdin factor D
<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:CFD
Synonyms:DF, PFD
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2771 CFD

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		134350 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P00746

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

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

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

Complement factor D deficiency (CFDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.
See also OMIM:613912
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_034866213V → G in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606720EnsemblClinVar.1
Natural variantiVAR_034867214C → R in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606721EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1675

MalaCards human disease database

More...MalaCardsi		CFD
MIMi613912 phenotype

Open Targets

More...OpenTargetsi		ENSG00000197766

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

More...Orphaneti		169467 Recurrent Neisseria infections due to factor D deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2176771

Drug and drug target database

More...DrugBanki		DB03058 2-Aminobenzyl alcohol

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2842

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CFD

Domain mapping of disease mutations (DMDM)

More...DMDMi		158515408

<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 – 20Sequence analysisAdd BLAST20
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000002756021 – 25Activation peptideSequence analysis5
<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_000002756126 – 253Complement factor DAdd BLAST228

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 bondi51 ↔ 67
Disulfide bondi148 ↔ 214
Disulfide bondi179 ↔ 195
Disulfide bondi204 ↔ 229

Keywords - PTMi

Disulfide bond, Zymogen

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P00746

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

More...PaxDbi		P00746

PeptideAtlas

More...PeptideAtlasi		P00746

PRoteomics IDEntifications database

More...PRIDEi		P00746

ProteomicsDB human proteome resource

More...ProteomicsDBi		51276

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P00746

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

More...PhosphoSitePlusi		P00746

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000197766 Expressed in 194 organ(s), highest expression level in adipose tissue of abdominal region

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P00746 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P00746 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA052799

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108039, 2 interactors

Protein interaction database and analysis system

More...IntActi		P00746, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000332139

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P00746

<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

1253
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
1BIOX-ray1.50A26-253[»]
1DFPX-ray2.40A/B26-253[»]
1DICX-ray1.80A26-253[»]
1DSTX-ray2.00A26-253[»]
1DSUX-ray2.00A/B26-253[»]
1FDPX-ray2.10A/B/C/D19-253[»]
1HFDX-ray2.30A26-253[»]
2XW9X-ray1.20A26-253[»]
2XWAX-ray2.80A/B26-253[»]
2XWBX-ray3.49I/J26-253[»]
4CBNX-ray1.80A/B26-253[»]
4CBOX-ray1.80A/B26-253[»]
4D9RX-ray2.42A/B26-253[»]
5FBEX-ray1.43A26-253[»]
5FBIX-ray1.47A26-253[»]
5FCKX-ray1.86A26-253[»]
5MT0X-ray1.29A26-253[»]
5MT4X-ray1.65A26-253[»]
5NARX-ray1.55A26-253[»]
5NATX-ray1.17A26-253[»]
5NAWX-ray1.25A26-253[»]
5NB6X-ray1.75A26-253[»]
5NB7X-ray1.33A26-253[»]
5NBAX-ray1.87A26-253[»]
5TCAX-ray3.15A/B/C/D/E/F/G26-253[»]
5TCCX-ray3.37A/B/C/D/E/F/G26-253[»]
6FTYX-ray1.67A26-253[»]
6FTZX-ray1.67A26-253[»]
6FUGX-ray2.21A/B/C/D/E/F26-253[»]
6FUHX-ray1.37A26-253[»]
6FUIX-ray1.38A26-253[»]
6FUJX-ray2.25A/B/C/D/E/F26-253[»]
6FUTX-ray1.50A26-253[»]

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

More...SMRi		P00746

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		P00746

<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>Domaini26 – 253Peptidase S1PROSITE-ProRule annotationAdd BLAST228

<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

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3627 Eukaryota
COG5640 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162255

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P00746

KEGG Orthology (KO)

More...KOi		K01334

Database of Orthologous Groups

More...OrthoDBi		1383895at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P00746

TreeFam database of animal gene trees

More...TreeFami		TF333630

Family and domain databases

Conserved Domains Database

More...CDDi		cd00190 Tryp_SPc, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037561 Complement_factor_D
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER

The PANTHER Classification System

More...PANTHERi		PTHR24271:SF54 PTHR24271:SF54, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
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
SM00020 Tryp_SPc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50494 SSF50494, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 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>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 1 potential isoform that is computationally mapped.Show allAlign All

P00746-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MHSWERLAVL VLLGAAACAA PPRGRILGGR EAEAHARPYM ASVQLNGAHL 
        60         70         80         90        100
CGGVLVAEQW VLSAAHCLED AADGKVQVLL GAHSLSQPEP SKRLYDVLRA 
       110        120        130        140        150
VPHPDSQPDT IDHDLLLLQL SEKATLGPAV RPLPWQRVDR DVAPGTLCDV 
       160        170        180        190        200
AGWGIVNHAG RRPDSLQHVL LPVLDRATCN RRTHHDGAIT ERLMCAESNR 
       210        220        230        240        250
RDSCKGDSGG PLVCGGVLEG VVTSGSRVCG NRKKPGIYTR VASYAAWIDS 

VLA
Length:253
Mass (Da):27,033
Last modified:September 11, 2007 - v5
<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:i78B06C209DEEA362
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERG9K7ERG9_HUMAN
Complement factor D
CFD
260Annotation 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>

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

The sequence AAA35527 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti21P → R in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti26I → M in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti35H → F AA sequence (PubMed:6987665).Curated1
Sequence conflicti40M → V AA sequence (PubMed:6987665).Curated1
Sequence conflicti49H → E AA sequence (PubMed:6363133).Curated1
Sequence conflicti49H → E AA sequence (PubMed:6821372).Curated1
Sequence conflicti52G → A in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti59Q → R in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti63S → T AA sequence (PubMed:6363133).Curated1
Sequence conflicti73D → G AA sequence (PubMed:6363133).Curated1
Sequence conflicti83 – 86HSLS → THLP AA sequence (PubMed:6383466).Curated4
Sequence conflicti83 – 84HS → ST AA sequence (PubMed:6363133).Curated2
Sequence conflicti94 – 95Missing AA sequence (PubMed:6363133).Curated2
Sequence conflicti96D → E AA sequence (PubMed:6363133).Curated1
Sequence conflicti136Q → G AA sequence (PubMed:6363133).Curated1
Sequence conflicti178 – 191TCNRR…GAITE → KCRLYDVL AA sequence (PubMed:6363133).CuratedAdd BLAST14
Sequence conflicti243S → T AA sequence (PubMed:6383466).Curated1
Sequence conflicti250S → H AA sequence (PubMed:6383466).Curated1
Sequence conflicti250Missing AA sequence (PubMed:6363133).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034866213V → G in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606720EnsemblClinVar.1
Natural variantiVAR_034867214C → R in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606721EnsemblClinVar.1
Natural variantiVAR_034868248I → M. Corresponds to variant dbSNP:rs2230216Ensembl.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
AJ313463 mRNA Translation: CAC48304.1
AK300963 mRNA Translation: BAG62588.1
CH471139 Genomic DNA Translation: EAW69588.1
BC034529 mRNA Translation: AAH34529.1
BC040146 mRNA Translation: AAH40146.1
BC051001 mRNA Translation: AAH51001.1
BC057807 mRNA Translation: AAH57807.1
M84526 mRNA Translation: AAA35527.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12046.1

Protein sequence database of the Protein Information Resource

More...PIRi		A40197 DBHU

NCBI Reference Sequences

More...RefSeqi		NP_001304264.1, NM_001317335.1
NP_001919.2, NM_001928.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000327726; ENSP00000332139; ENSG00000197766
ENST00000617994; ENSP00000478745; ENSG00000274619

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1675

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1675

UCSC genome browser

More...UCSCi		uc002lqc.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

CFDbase

CFD mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ313463 mRNA Translation: CAC48304.1
AK300963 mRNA Translation: BAG62588.1
CH471139 Genomic DNA Translation: EAW69588.1
BC034529 mRNA Translation: AAH34529.1
BC040146 mRNA Translation: AAH40146.1
BC051001 mRNA Translation: AAH51001.1
BC057807 mRNA Translation: AAH57807.1
M84526 mRNA Translation: AAA35527.1 Different initiation.
CCDSiCCDS12046.1
PIRiA40197 DBHU
RefSeqiNP_001304264.1, NM_001317335.1
NP_001919.2, NM_001928.3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BIOX-ray1.50A26-253[»]
1DFPX-ray2.40A/B26-253[»]
1DICX-ray1.80A26-253[»]
1DSTX-ray2.00A26-253[»]
1DSUX-ray2.00A/B26-253[»]
1FDPX-ray2.10A/B/C/D19-253[»]
1HFDX-ray2.30A26-253[»]
2XW9X-ray1.20A26-253[»]
2XWAX-ray2.80A/B26-253[»]
2XWBX-ray3.49I/J26-253[»]
4CBNX-ray1.80A/B26-253[»]
4CBOX-ray1.80A/B26-253[»]
4D9RX-ray2.42A/B26-253[»]
5FBEX-ray1.43A26-253[»]
5FBIX-ray1.47A26-253[»]
5FCKX-ray1.86A26-253[»]
5MT0X-ray1.29A26-253[»]
5MT4X-ray1.65A26-253[»]
5NARX-ray1.55A26-253[»]
5NATX-ray1.17A26-253[»]
5NAWX-ray1.25A26-253[»]
5NB6X-ray1.75A26-253[»]
5NB7X-ray1.33A26-253[»]
5NBAX-ray1.87A26-253[»]
5TCAX-ray3.15A/B/C/D/E/F/G26-253[»]
5TCCX-ray3.37A/B/C/D/E/F/G26-253[»]
6FTYX-ray1.67A26-253[»]
6FTZX-ray1.67A26-253[»]
6FUGX-ray2.21A/B/C/D/E/F26-253[»]
6FUHX-ray1.37A26-253[»]
6FUIX-ray1.38A26-253[»]
6FUJX-ray2.25A/B/C/D/E/F26-253[»]
6FUTX-ray1.50A26-253[»]
SMRiP00746
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108039, 2 interactors
IntActiP00746, 2 interactors
STRINGi9606.ENSP00000332139

Chemistry databases

BindingDBiP00746
ChEMBLiCHEMBL2176771
DrugBankiDB03058 2-Aminobenzyl alcohol
GuidetoPHARMACOLOGYi2842

Protein family/group databases

MEROPSiS01.191

PTM databases

iPTMnetiP00746
PhosphoSitePlusiP00746

Polymorphism and mutation databases

BioMutaiCFD
DMDMi158515408

Proteomic databases

jPOSTiP00746
PaxDbiP00746
PeptideAtlasiP00746
PRIDEiP00746
ProteomicsDBi51276

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327726; ENSP00000332139; ENSG00000197766
ENST00000617994; ENSP00000478745; ENSG00000274619
GeneIDi1675
KEGGihsa:1675
UCSCiuc002lqc.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1675
DisGeNETi1675

GeneCards: human genes, protein and diseases

More...GeneCardsi		CFD
HGNCiHGNC:2771 CFD
HPAiHPA052799
MalaCardsiCFD
MIMi134350 gene
613912 phenotype
neXtProtiNX_P00746
OpenTargetsiENSG00000197766
Orphaneti169467 Recurrent Neisseria infections due to factor D deficiency
PharmGKBiPA142

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00940000162255
InParanoidiP00746
KOiK01334
OrthoDBi1383895at2759
PhylomeDBiP00746
TreeFamiTF333630

Enzyme and pathway databases

BRENDAi3.4.21.46 2681
ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-173736 Alternative complement activation
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

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

More...ChiTaRSi		CFD human
EvolutionaryTraceiP00746

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

More...GenomeRNAii		1675

Protein Ontology

More...PROi		PR:P00746

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197766 Expressed in 194 organ(s), highest expression level in adipose tissue of abdominal region
ExpressionAtlasiP00746 baseline and differential
GenevisibleiP00746 HS

Family and domain databases

CDDicd00190 Tryp_SPc, 1 hit
InterProiView protein in InterPro
IPR037561 Complement_factor_D
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
PANTHERiPTHR24271:SF54 PTHR24271:SF54, 1 hit
PfamiView protein in Pfam
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
PROSITEiView protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 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 nameiCFAD_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: P00746
Secondary accession number(s): B4DV76
, Q5U5S1, Q86VJ5, Q8N4E0, Q8WZB4
<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: September 11, 2007
Last modified: May 8, 2019
This is version 201 of the entry and version 5 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 19
    Human chromosome 19: 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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