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UniProtKB - P08174 (DAF_HUMAN)

Entry version 219 (18 Sep 2019)
Sequence version 4 (01 Mar 2005)
Previous versions | rss
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Protein

Complement decay-accelerating factor

Gene

CD55

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

This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade (PubMed:7525274). Inhibits complement activation by destabilizing and preventing the formation of C3 and C5 convertases, which prevents complement damage (PubMed:28657829).1 Publication1 Publication
(Microbial infection) Acts as a receptor for Coxsackievirus A21, coxsackieviruses B1, B3 and B5.1 Publication
(Microbial infection) Acts as a receptor for Human enterovirus 70 and D68 (Probable).1 Publication
(Microbial infection) Acts as a receptor for Human echoviruses 6, 7, 11, 12, 20 and 21.1 Publication1 Publication

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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 functionBlood group antigen, Host cell receptor for virus entry, Receptor
Biological processComplement pathway, Host-virus interaction, Immunity, Innate immunity

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-6798695 Neutrophil degranulation
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-977606 Regulation of Complement cascade

SIGNOR Signaling Network Open Resource

More...SIGNORi		P08174

<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 decay-accelerating factor
Alternative name(s):
CD_antigen: CD55
<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:CD55
Synonyms:CR, DAF
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:2665 CD55

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		125240 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P08174

<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

Cell membrane, Membrane, 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 hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. CHAPLE is caused by biallelic mutations in the CD55 gene.
Disease descriptionAn autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079373267C → S in CHAPLE; increased complement activation. 1 PublicationCorresponds to variant dbSNP:rs1135402917EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1604

MalaCards human disease database

More...MalaCardsi		CD55
MIMi226300 phenotype
613793 phenotype

NIAGADS Genomics Database

More...NIAGADSi		ENSG00000196352

Open Targets

More...OpenTargetsi		ENSG00000196352

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27137

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00446 Chloramphenicol

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CD55

Domain mapping of disease mutations (DMDM)

More...DMDMi		60416353

<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 – 342 PublicationsAdd BLAST34
<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_000000600035 – 353Complement decay-accelerating factorAdd BLAST319
<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_0000006001354 – 381Removed in mature formAdd BLAST28

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 bondi36 ↔ 81PROSITE-ProRule annotation1 Publication
Disulfide bondi65 ↔ 94PROSITE-ProRule annotation1 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>Glycosylationi95N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi98 ↔ 145PROSITE-ProRule annotation1 Publication
Disulfide bondi129 ↔ 158PROSITE-ProRule annotation1 Publication
Disulfide bondi163 ↔ 204PROSITE-ProRule annotation1 Publication
Disulfide bondi190 ↔ 220PROSITE-ProRule annotation1 Publication
Disulfide bondi225 ↔ 267PROSITE-ProRule annotation1 Publication
Disulfide bondi253 ↔ 283PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi353GPI-anchor amidated serine1 Publication1

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

The Ser/Thr-rich domain is heavily O-glycosylated.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P08174

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P08174

MaxQB - The MaxQuant DataBase

More...MaxQBi		P08174

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

More...PaxDbi		P08174

PeptideAtlas

More...PeptideAtlasi		P08174

PRoteomics IDEntifications database

More...PRIDEi		P08174

ProteomicsDB human proteome resource

More...ProteomicsDBi		52078 [P08174-1]
52079 [P08174-2]
60351
60352
60353

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1151

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P08174

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

More...PhosphoSitePlusi		P08174

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P08174

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

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

Expressed on the plasma membranes of all cell types that are in intimate contact with plasma complement proteins. It is also found on the surfaces of epithelial cells lining extracellular compartments, and variants of the molecule are present in body fluids and in extracellular matrix.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000196352 Expressed in 228 organ(s), highest expression level in nasal cavity epithelium

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P08174 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P08174 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010454
HPA002190
HPA024386

<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

Monomer (major form) and non-disulfide-linked, covalent homodimer (minor form).

1 Publication1 Publication

(Microbial infection)

Interacts with coxsackievirus A21, coxsackieviruses B1, B3 and B5 capsid proteins.

1 Publication

(Microbial infection)

Interacts with human enterovirus 70 and D68 capsid proteins (Probable).

1 Publication

(Microbial infection)

Interacts with human echoviruses 6, 7, 11, 12, 20 and 21 capsid proteins.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107974, 29 interactors

Protein interaction database and analysis system

More...IntActi		P08174, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356030

<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

1381
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P08174

Database of comparative protein structure models

More...ModBasei		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P08174

<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>Domaini35 – 96Sushi 1PROSITE-ProRule annotationAdd BLAST62
Domaini96 – 160Sushi 2PROSITE-ProRule annotationAdd BLAST65
Domaini161 – 222Sushi 3PROSITE-ProRule annotationAdd BLAST62
Domaini223 – 285Sushi 4PROSITE-ProRule annotationAdd BLAST63

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi287 – 356Ser/Thr-richAdd BLAST70

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

The first Sushi domain (SCR1) is not necessary for function. SCR2 and SCR4 provide the proper conformation for the active site on SCR3 (By similarity).By similarity

<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 receptors of complement activation (RCA) family.Curated

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEGQ Eukaryota
ENOG410XPJ1 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162307

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000237360

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P08174

KEGG Orthology (KO)

More...KOi		K04006

Database of Orthologous Groups

More...OrthoDBi		1101732at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P08174

TreeFam database of animal gene trees

More...TreeFami		TF334137

Family and domain databases

Conserved Domains Database

More...CDDi		cd00033 CCP, 4 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00084 Sushi, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00032 CCP, 4 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57535 SSF57535, 4 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50923 SUSHI, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 7 <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

This entry has 7 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: P08174-1) [UniParc]FASTAAdd to basket
Also known as: DAF-2

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MTVARPSVPA ALPLLGELPR LLLLVLLCLP AVWGDCGLPP DVPNAQPALE 
        60         70         80         90        100
GRTSFPEDTV ITYKCEESFV KIPGEKDSVI CLKGSQWSDI EEFCNRSCEV 
       110        120        130        140        150
PTRLNSASLK QPYITQNYFP VGTVVEYECR PGYRREPSLS PKLTCLQNLK 
       160        170        180        190        200
WSTAVEFCKK KSCPNPGEIR NGQIDVPGGI LFGATISFSC NTGYKLFGST 
       210        220        230        240        250
SSFCLISGSS VQWSDPLPEC REIYCPAPPQ IDNGIIQGER DHYGYRQSVT 
       260        270        280        290        300
YACNKGFTMI GEHSIYCTVN NDEGEWSGPP PECRGKSLTS KVPPTVQKPT 
       310        320        330        340        350
TVNVPTTEVS PTSQKTTTKT TTPNAQATRS TPVSRTTKHF HETTPNKGSG 
       360        370        380 
TTSGTTRLLS GHTCFTLTGL LGTLVTMGLL T
Length:381
Mass (Da):41,400
Last modified:March 1, 2005 - 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:iC1CBE5300F60C176
GO
Isoform 1 (identifier: P08174-2) [UniParc]FASTAAdd to basket
Also known as: DAF-1

The sequence of this isoform differs from the canonical sequence as follows:
     362-381: HTCFTLTGLLGTLVTMGLLT → SRPVTQAGMR...TQVYRLFLVS

Show »
Length:440
Mass (Da):48,717
Checksum:iCF6154031FAC5D58
GO
Isoform 3 (identifier: P08174-3) [UniParc]FASTAAdd to basket
Also known as: VDAF3

The sequence of this isoform differs from the canonical sequence as follows:
     361-381: GHTCFTLTGLLGTLVTMGLLT → ALQVRPFEVSGSSHISSKKMMCIL

Show »
Length:384
Mass (Da):41,900
Checksum:i192116A331DBD533
GO
Isoform 4 (identifier: P08174-4) [UniParc]FASTAAdd to basket
Also known as: VDAF2

The sequence of this isoform differs from the canonical sequence as follows:
     361-381: GHTCFTLTGLLGTLVTMGLLT → VLFM

Show »
Length:364
Mass (Da):39,759
Checksum:iBFDE9FD6B7C10A07
GO
Isoform 5 (identifier: P08174-5) [UniParc]FASTAAdd to basket
Also known as: VDAF1

The sequence of this isoform differs from the canonical sequence as follows:
     361-381: GHTCFTLTGLLGTLVTMGLLT → ETVFHRVIQD...TQVYRLFLVS

Show »
Length:439
Mass (Da):48,513
Checksum:i256086EFD8CDBDBA
GO
Isoform 6 (identifier: P08174-6) [UniParc]FASTAAdd to basket
Also known as: VDAF4

The sequence of this isoform differs from the canonical sequence as follows:
     327-327: A → GTETPSVLQK...AFTQSPSAAP

Note: Includes partial sequence of the intron 7.
Show »
Length:525
Mass (Da):56,218
Checksum:i1AAFC1E5FD7DCE4C
GO
Isoform 7 (identifier: P08174-7) [UniParc]FASTAAdd to basket
Also known as: VDAF5

The sequence of this isoform differs from the canonical sequence as follows:
     326-326: Q → QGTETPSVLQ...TQRFPSAHIT

Note: Includes full sequence of the intron 7.
Show »
Length:551
Mass (Da):59,038
Checksum:i505AEC29D919AF48
GO

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

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AP13B1AP13_HUMAN
Complement decay-accelerating facto...
CD55
444Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BLV0H3BLV0_HUMAN
Complement decay-accelerating facto...
CD55
326Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BY55H7BY55_HUMAN
Complement decay-accelerating facto...
CD55
550Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B1AP15B1AP15_HUMAN
CD55 antigen, decay accelerating fa...
CD55 hCG_22206
317Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDY3A0A2R8YDY3_HUMAN
Complement decay-accelerating facto...
CD55
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YEC5A0A2R8YEC5_HUMAN
Complement decay-accelerating facto...
CD55
268Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4B4A0A2R8Y4B4_HUMAN
Complement decay-accelerating facto...
CD55
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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 conflicti80I → T in AAA52170 (PubMed:1711208).Curated1
Sequence conflicti80I → T in AAA52167 (PubMed:2436222).Curated1
Sequence conflicti85S → M in AAA52167 (PubMed:2436222).Curated1
Sequence conflicti187S → T in AAB48622 (Ref. 10) Curated1
Sequence conflicti297Q → H in AAB48622 (Ref. 10) Curated1

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

Responsible for the Cromer blood group system (CROM) [MIMi:613793]. It consists of at least 8 high-incidence (Cr(a), Tc(a), Dr(a), Es(a), WES(b), UMC, IFC and GUTI) and three low-incidence (Tc(b), Tc(c) and WES(a)) antigens that reside on DAF. In the Cromer phenotypes Dr(a-) and Inab there is reduced or absent expression of DAF, respectively. In the case of the Dr(a-) phenotype, a single nucleotide substitution within exon 5 accounts for two changes: a simple amino acid substitution, Leu-199 that is the basis of the antigenic variation, and an alternative splicing event that underlies the decreased expression of DAF in this phenotype. The Inab phenotype is a very rare one in which the red blood cells lack all Cromer system antigens. The red blood cells of individuals with Inab phenotype have a deficiency of DAF, but these individuals are not known to have any associated hematologic or other abnormalities (PubMed:12675719).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00199752R → L in Tc(b) antigen. 1 PublicationCorresponds to variant dbSNP:rs28371588Ensembl.1
Natural variantiVAR_00199852R → P in Tc(c) antigen. Corresponds to variant dbSNP:rs28371588Ensembl.1
Natural variantiVAR_00199982L → R in WES(a) antigen. Corresponds to variant dbSNP:rs147474393Ensembl.1
Natural variantiVAR_002000199S → L in Dr(a-) antigen. 1 PublicationCorresponds to variant dbSNP:rs1135402914EnsemblClinVar.1
Natural variantiVAR_002001227A → P in Cr(a-) antigen. Corresponds to variant dbSNP:rs60822373Ensembl.1
Natural variantiVAR_015884240R → H in GUTI(-) antigen. 1 PublicationCorresponds to variant dbSNP:rs199705465Ensembl.1
Natural variantiVAR_079373267C → S in CHAPLE; increased complement activation. 1 PublicationCorresponds to variant dbSNP:rs1135402917EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_047634326Q → QGTETPSVLQKHTTENVSAT RTPPTPQKPTTVNVPATIVT PTPQKPTTINVPATGVSSTP QRHTIVNVSATGTLPTLQKP TRANDSATKSPAAAQTSFIS KTLSTKTPSAAQNPMMTNAS ATQATLTAQKFTTAKVAFTQ SPSAARKSTNVHSPVTNGLK STQRFPSAHIT in isoform 7. 1 Publication1
Alternative sequenceiVSP_047635327A → GTETPSVLQKHTTENVSATR TPPTPQKPTTVNVPATIVTP TPQKPTTINVPATGVSSTPQ RHTIVNVSATGTLPTLQKPT RANDSATKSPAAAQTSFISK TLSTKTPSAAQNPMMTNASA TQATLTAQKFTTAKVAFTQS PSAAP in isoform 6. 1 Publication1
Alternative sequenceiVSP_047636361 – 381GHTCF…MGLLT → ALQVRPFEVSGSSHISSKKM MCIL in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_047637361 – 381GHTCF…MGLLT → VLFM in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_047638361 – 381GHTCF…MGLLT → ETVFHRVIQDGLDLLASRSA CLGLPKCWDYRREPPHLARA HVFHVDRFAWDASNHGLADL AKEELRRKYTQVYRLFLVS in isoform 5. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_001200362 – 381HTCFT…MGLLT → SRPVTQAGMRWCDRSSLQSR TPGFKRSFHFSLPSSWYYRA HVFHVDRFAWDASNHGLADL AKEELRRKYTQVYRLFLVS in isoform 1. 2 PublicationsAdd BLAST20

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
M31516 mRNA Translation: AAA52169.1
M30142 mRNA Translation: AAA52168.1
AB240566 mRNA Translation: BAE97422.1
AB240567 mRNA Translation: BAE97423.1
AB240568 mRNA Translation: BAE97424.1
AB240569 mRNA Translation: BAE97425.1
AB240570 mRNA Translation: BAE97426.1
BT007159 mRNA Translation: AAP35823.1
AY851161 Genomic DNA Translation: AAW29942.1
AL391597 Genomic DNA No translation available.
AL596218 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93485.1
CH471100 Genomic DNA Translation: EAW93487.1
CH471100 Genomic DNA Translation: EAW93488.1
CH471100 Genomic DNA Translation: EAW93491.1
BC001288 mRNA Translation: AAH01288.1
M64653, M64356 Genomic DNA Translation: AAA52170.1
M15799 mRNA Translation: AAA52167.1
U88576 mRNA Translation: AAB48622.1
S72858 Genomic DNA Translation: AAC60633.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31006.1 [P08174-1]
CCDS44307.1 [P08174-2]
CCDS86046.1 [P08174-5]
CCDS86047.1 [P08174-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A26359
B26359

NCBI Reference Sequences

More...RefSeqi		NP_000565.1, NM_000574.4 [P08174-1]
NP_001108224.1, NM_001114752.2 [P08174-2]
NP_001287832.1, NM_001300903.1 [P08174-5]
NP_001287833.1, NM_001300904.1 [P08174-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000314754; ENSP00000316333; ENSG00000196352 [P08174-2]
ENST00000367064; ENSP00000356031; ENSG00000196352 [P08174-1]
ENST00000644836; ENSP00000495518; ENSG00000196352 [P08174-3]
ENST00000645323; ENSP00000496251; ENSG00000196352 [P08174-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1604

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1604

UCSC genome browser

More...UCSCi		uc001hfq.5 human [P08174-1]

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

dbRBC/BGMUT

Blood group antigen gene mutation database

CD55base

CD55 mutation db

Wikipedia

Decay-accelerating factor entry

SeattleSNPs
Virus Particle ExploreR db

Icosahedral capsid structure

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M31516 mRNA Translation: AAA52169.1
M30142 mRNA Translation: AAA52168.1
AB240566 mRNA Translation: BAE97422.1
AB240567 mRNA Translation: BAE97423.1
AB240568 mRNA Translation: BAE97424.1
AB240569 mRNA Translation: BAE97425.1
AB240570 mRNA Translation: BAE97426.1
BT007159 mRNA Translation: AAP35823.1
AY851161 Genomic DNA Translation: AAW29942.1
AL391597 Genomic DNA No translation available.
AL596218 Genomic DNA No translation available.
CH471100 Genomic DNA Translation: EAW93485.1
CH471100 Genomic DNA Translation: EAW93487.1
CH471100 Genomic DNA Translation: EAW93488.1
CH471100 Genomic DNA Translation: EAW93491.1
BC001288 mRNA Translation: AAH01288.1
M64653, M64356 Genomic DNA Translation: AAA52170.1
M15799 mRNA Translation: AAA52167.1
U88576 mRNA Translation: AAB48622.1
S72858 Genomic DNA Translation: AAC60633.1
CCDSiCCDS31006.1 [P08174-1]
CCDS44307.1 [P08174-2]
CCDS86046.1 [P08174-5]
CCDS86047.1 [P08174-3]
PIRiA26359
B26359
RefSeqiNP_000565.1, NM_000574.4 [P08174-1]
NP_001108224.1, NM_001114752.2 [P08174-2]
NP_001287832.1, NM_001300903.1 [P08174-5]
NP_001287833.1, NM_001300904.1 [P08174-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H03X-ray1.70P/Q161-285[»]
1H04X-ray2.00P161-285[»]
1H2PX-ray2.80P161-285[»]
1H2QX-ray3.00P161-285[»]
1M11electron microscopy16.00R35-277[»]
1NWVNMR-A96-222[»]
1OJVX-ray2.30A/B35-285[»]
1OJWX-ray2.30A/B35-285[»]
1OJYX-ray2.60A/B/C/D35-285[»]
1OK1X-ray2.60A/B35-285[»]
1OK2X-ray2.50A/B35-285[»]
1OK3X-ray2.20A/B35-285[»]
1OK9X-ray3.00A/B35-285[»]
1UOTX-ray3.00P161-285[»]
1UPNelectron microscopy16.00E157-285[»]
2C8Ielectron microscopy14.00E35-285[»]
2QZDelectron microscopy-A222-285[»]
2QZFelectron microscopy-A35-94[»]
2QZHelectron microscopy14.00A96-222[»]
3IYPelectron microscopy-F1-381[»]
3J24electron microscopy9.00B35-285[»]
5FOAX-ray4.19E/F97-285[»]
6ILJelectron microscopy3.60E94-285[»]
6ILKelectron microscopy3.00E94-285[»]
SMRiP08174
ModBaseiSearch...

Protein-protein interaction databases

BioGridi107974, 29 interactors
IntActiP08174, 9 interactors
STRINGi9606.ENSP00000356030

Chemistry databases

DrugBankiDB00446 Chloramphenicol

PTM databases

GlyConnecti1151
iPTMnetiP08174
PhosphoSitePlusiP08174
SwissPalmiP08174

Polymorphism and mutation databases

BioMutaiCD55
DMDMi60416353

Proteomic databases

jPOSTiP08174
MassIVEiP08174
MaxQBiP08174
PaxDbiP08174
PeptideAtlasiP08174
PRIDEiP08174
ProteomicsDBi52078 [P08174-1]
52079 [P08174-2]
60351
60352
60353

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P08174

The DNASU plasmid repository

More...DNASUi		1604
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314754; ENSP00000316333; ENSG00000196352 [P08174-2]
ENST00000367064; ENSP00000356031; ENSG00000196352 [P08174-1]
ENST00000644836; ENSP00000495518; ENSG00000196352 [P08174-3]
ENST00000645323; ENSP00000496251; ENSG00000196352 [P08174-5]
GeneIDi1604
KEGGihsa:1604
UCSCiuc001hfq.5 human [P08174-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1604
DisGeNETi1604

GeneCards: human genes, protein and diseases

More...GeneCardsi		CD55
HGNCiHGNC:2665 CD55
HPAiCAB010454
HPA002190
HPA024386
MalaCardsiCD55
MIMi125240 gene
226300 phenotype
613793 phenotype
neXtProtiNX_P08174
NIAGADSiENSG00000196352
OpenTargetsiENSG00000196352
PharmGKBiPA27137

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEGQ Eukaryota
ENOG410XPJ1 LUCA
GeneTreeiENSGT00940000162307
HOGENOMiHOG000237360
InParanoidiP08174
KOiK04006
OrthoDBi1101732at2759
PhylomeDBiP08174
TreeFamiTF334137

Enzyme and pathway databases

ReactomeiR-HSA-373080 Class B/2 (Secretin family receptors)
R-HSA-6798695 Neutrophil degranulation
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-977606 Regulation of Complement cascade
SIGNORiP08174

Miscellaneous databases

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

More...ChiTaRSi		CD55 human
EvolutionaryTraceiP08174

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Decay-accelerating_factor

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

More...GenomeRNAii		1604

Pharos

More...Pharosi		P08174

Protein Ontology

More...PROi		PR:P08174

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000196352 Expressed in 228 organ(s), highest expression level in nasal cavity epithelium
ExpressionAtlasiP08174 baseline and differential
GenevisibleiP08174 HS

Family and domain databases

CDDicd00033 CCP, 4 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 4 hits
SMARTiView protein in SMART
SM00032 CCP, 4 hits
SUPFAMiSSF57535 SSF57535, 4 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDAF_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: P08174
Secondary accession number(s): B1AP14
, D3DT83, D3DT84, E7ER69, P09679, P78361, Q14UF2, Q14UF3, Q14UF4, Q14UF5, Q14UF6
<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: August 1, 1988
Last sequence update: March 1, 2005
Last modified: September 18, 2019
This is version 219 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  5. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  8. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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