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UniProtKB - Q92496 (FHR4_HUMAN)

Entry version 161 (12 Aug 2020)
Sequence version 3 (22 Jan 2014)
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Protein

Complement factor H-related protein 4

Gene

CFHR4

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

Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.

<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 ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92496

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		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%5Fand%5Ftaxonomy%5Fsection">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 H-related protein 4
Short name:
FHR-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CFHR4
Synonyms:CFHL4, FHR4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000134365.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:16979, CFHR4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605337, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92496

<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

<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>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

Organism-specific databases

DisGeNET

More...DisGeNETi		10877

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		CFHR4

MalaCards human disease database

More...MalaCardsi		CFHR4

Open Targets

More...OpenTargetsi		ENSG00000134365

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

More...Orphaneti		93581, Atypical hemolytic uremic syndrome with anti-factor H antibodies

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134960382

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92496, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CFHR4

Domain mapping of disease mutations (DMDM)

More...DMDMi		212276433

<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 – 19Sequence analysisAdd BLAST19
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_500007260720 – 578Complement factor H-related protein 4Add BLAST559

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 bondi88 ↔ 134PROSITE-ProRule annotation
Disulfide bondi117 ↔ 145PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi149 ↔ 193PROSITE-ProRule annotation
Disulfide bondi176 ↔ 204PROSITE-ProRule annotation
Glycosylationi186N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi206N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi211 ↔ 254PROSITE-ProRule annotation
Disulfide bondi240 ↔ 265PROSITE-ProRule annotation
Disulfide bondi271 ↔ 320PROSITE-ProRule annotation
Disulfide bondi303 ↔ 331PROSITE-ProRule annotation
Disulfide bondi335 ↔ 381PROSITE-ProRule annotation
Disulfide bondi364 ↔ 392PROSITE-ProRule annotation
Glycosylationi374N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi396 ↔ 440PROSITE-ProRule annotation
Disulfide bondi423 ↔ 451PROSITE-ProRule annotation
Glycosylationi433N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi453N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi458 ↔ 501PROSITE-ProRule annotation
Disulfide bondi487 ↔ 512PROSITE-ProRule annotation
Disulfide bondi516 ↔ 567PROSITE-ProRule annotation
Disulfide bondi550 ↔ 577PROSITE-ProRule annotation
Glycosylationi557N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92496

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

More...PaxDbi		Q92496

PeptideAtlas

More...PeptideAtlasi		Q92496

PRoteomics IDEntifications database

More...PRIDEi		Q92496

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75268 [Q92496-1]
8914

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1928, 8 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q92496, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92496

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

More...PhosphoSitePlusi		Q92496

<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 by the liver and secreted in plasma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000134365, Expressed in liver and 29 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92496, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92496, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000134365, Tissue enriched (liver)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116085, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q92496, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356386

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92496, protein

<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

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

More...SMRi		Q92496

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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>Domaini20 – 85Sushi 1PROSITE-ProRule annotationAdd BLAST66
Domaini86 – 147Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini148 – 206Sushi 3PROSITE-ProRule annotationAdd BLAST59
Domaini209 – 267Sushi 4PROSITE-ProRule annotationAdd BLAST59
Domaini268 – 332Sushi 5PROSITE-ProRule annotationAdd BLAST65
Domaini333 – 394Sushi 6PROSITE-ProRule annotationAdd BLAST62
Domaini395 – 453Sushi 7PROSITE-ProRule annotationAdd BLAST59
Domaini456 – 514Sushi 8PROSITE-ProRule annotationAdd BLAST59
Domaini515 – 578Sushi 9PROSITE-ProRule annotationAdd BLAST64

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 biasi213 – 216Poly-Pro4
Compositional biasi460 – 463Poly-Pro4

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502SM0B, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154386

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020107_6_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92496

KEGG Orthology (KO)

More...KOi		K23816

Identification of Orthologs from Complete Genome Data

More...OMAi		PRCRLMK

Database of Orthologous Groups

More...OrthoDBi		296899at2759

TreeFam database of animal gene trees

More...TreeFami		TF326157

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, 8 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00032, CCP, 8 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57535, SSF57535, 8 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50923, SUSHI, 6 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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92496-1) [UniParc]FASTAAdd to basket
Also known as: FHR-4A

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
MLLLINVILT LWVSCANGQE VKPCDFPEIQ HGGLYYKSLR RLYFPAAAGQ 
        60         70         80         90        100
SYSYYCDQNF VTPSGSYWDY IHCTQDGWSP TVPCLRTCSK SDVEIENGFI 
       110        120        130        140        150
SESSSIYILN EETQYNCKPG YATAEGNSSG SITCLQNGWS TQPICIKFCD 
       160        170        180        190        200
MPVFENSRAK SNGMWFKLHD TLDYECYDGY ESSYGNTTDS IVCGEDGWSH 
       210        220        230        240        250
LPTCYNSSEN CGPPPPISNG DTTSFPQKVY LPWSRVEYQC QSYYELQGSK 
       260        270        280        290        300
YVTCSNGDWS EPPRCISMKP CEFPEIQHGH LYYENTRRPY FPVATGQSYS 
       310        320        330        340        350
YYCDQNFVTP SGSYWDYIHC TQDGWLPTVP CLRTCSKSDI EIENGFISES 
       360        370        380        390        400
SSIYILNKEI QYKCKPGYAT ADGNSSGSIT CLQNGWSAQP ICIKFCDMPV 
       410        420        430        440        450
FENSRAKSNG MRFKLHDTLD YECYDGYEIS YGNTTGSIVC GEDGWSHFPT 
       460        470        480        490        500
CYNSSEKCGP PPPISNGDTT SFLLKVYVPQ SRVEYQCQSY YELQGSNYVT 
       510        520        530        540        550
CSNGEWSEPP RCIHPCIITE ENMNKNNIQL KGKSDIKYYA KTGDTIEFMC 
       560        570 
KLGYNANTSV LSFQAVCREG IVEYPRCE
Length:578
Mass (Da):65,351
Last modified:January 22, 2014 - v3
<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:iCB80749443932B3F
GO
Isoform 2 (identifier: Q92496-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     20-20: Missing.

Show »
Length:577
Mass (Da):65,222
Checksum:i5998BCEC347D9EB3
GO
Isoform 3 (identifier: Q92496-3) [UniParc]FASTAAdd to basket
Also known as: FHR-4B

The sequence of this isoform differs from the canonical sequence as follows:
     80-326: Missing.

Show »
Length:331
Mass (Da):37,299
Checksum:i503E04AB4C271424
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
A0A0C4DH21A0A0C4DH21_HUMAN
Complement factor H-related protein...
CFHR4
331Annotation 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 conflicti79S → L in CAA66980 (PubMed:9038172).Curated1
Sequence conflicti79S → L in AAH74957 (PubMed:15489334).Curated1

Natural variant

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_070195125E → D1 PublicationCorresponds to variant dbSNP:rs10801578Ensembl.1
Natural variantiVAR_070196210N → S1 PublicationCorresponds to variant dbSNP:rs7417769Ensembl.1
Natural variantiVAR_047151553G → E. Corresponds to variant dbSNP:rs10494745Ensembl.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_04641820Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_05352880 – 326Missing in isoform 3. 2 PublicationsAdd BLAST247

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
X98337 mRNA Translation: CAA66980.1
AJ640130 mRNA Translation: CAG26679.2
AK292752 mRNA Translation: BAF85441.1
AL139418 Genomic DNA No translation available.
BX248415 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91266.1
BC074957 mRNA Translation: AAH74957.1
AF190816 Genomic DNA Translation: AAF05951.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41451.1 [Q92496-3]
CCDS55671.1 [Q92496-2]

NCBI Reference Sequences

More...RefSeqi		NP_001188479.1, NM_001201550.2 [Q92496-1]
NP_001188480.1, NM_001201551.1 [Q92496-2]
NP_006675.2, NM_006684.4 [Q92496-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000251424; ENSP00000251424; ENSG00000134365 [Q92496-3]
ENST00000367416; ENSP00000356386; ENSG00000134365 [Q92496-2]
ENST00000608469; ENSP00000477162; ENSG00000134365 [Q92496-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10877

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10877

UCSC genome browser

More...UCSCi		uc001gto.4, human [Q92496-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X98337 mRNA Translation: CAA66980.1
AJ640130 mRNA Translation: CAG26679.2
AK292752 mRNA Translation: BAF85441.1
AL139418 Genomic DNA No translation available.
BX248415 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW91266.1
BC074957 mRNA Translation: AAH74957.1
AF190816 Genomic DNA Translation: AAF05951.1
CCDSiCCDS41451.1 [Q92496-3]
CCDS55671.1 [Q92496-2]
RefSeqiNP_001188479.1, NM_001201550.2 [Q92496-1]
NP_001188480.1, NM_001201551.1 [Q92496-2]
NP_006675.2, NM_006684.4 [Q92496-3]

3D structure databases

SMRiQ92496
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116085, 3 interactors
IntActiQ92496, 9 interactors
STRINGi9606.ENSP00000356386

PTM databases

GlyConnecti1928, 8 N-Linked glycans (1 site)
GlyGeniQ92496, 8 sites
iPTMnetiQ92496
PhosphoSitePlusiQ92496

Polymorphism and mutation databases

BioMutaiCFHR4
DMDMi212276433

Proteomic databases

MassIVEiQ92496
PaxDbiQ92496
PeptideAtlasiQ92496
PRIDEiQ92496
ProteomicsDBi75268 [Q92496-1]
8914

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		55923, 69 antibodies

Genome annotation databases

EnsembliENST00000251424; ENSP00000251424; ENSG00000134365 [Q92496-3]
ENST00000367416; ENSP00000356386; ENSG00000134365 [Q92496-2]
ENST00000608469; ENSP00000477162; ENSG00000134365 [Q92496-1]
GeneIDi10877
KEGGihsa:10877
UCSCiuc001gto.4, human [Q92496-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10877
DisGeNETi10877
EuPathDBiHostDB:ENSG00000134365.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		CFHR4
GeneReviewsiCFHR4
HGNCiHGNC:16979, CFHR4
HPAiENSG00000134365, Tissue enriched (liver)
MalaCardsiCFHR4
MIMi605337, gene
neXtProtiNX_Q92496
OpenTargetsiENSG00000134365
Orphaneti93581, Atypical hemolytic uremic syndrome with anti-factor H antibodies
PharmGKBiPA134960382

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502SM0B, Eukaryota
GeneTreeiENSGT00940000154386
HOGENOMiCLU_020107_6_0_1
InParanoidiQ92496
KOiK23816
OMAiPRCRLMK
OrthoDBi296899at2759
TreeFamiTF326157

Enzyme and pathway databases

PathwayCommonsiQ92496
ReactomeiR-HSA-977606, Regulation of Complement cascade

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10877, 6 hits in 875 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CFHR4

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

More...GenomeRNAii		10877
PharosiQ92496, Tbio

Protein Ontology

More...PROi		PR:Q92496
RNActiQ92496, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000134365, Expressed in liver and 29 other tissues
ExpressionAtlasiQ92496, baseline and differential
GenevisibleiQ92496, 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, 8 hits
SMARTiView protein in SMART
SM00032, CCP, 8 hits
SUPFAMiSSF57535, SSF57535, 8 hits
PROSITEiView protein in PROSITE
PS50923, SUSHI, 6 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 nameiFHR4_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: Q92496
Secondary accession number(s): A8K9N7
, B1ALQ9, C9J7J7, Q5DVJ7, Q9UJY6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: January 22, 2014
Last modified: August 12, 2020
This is version 161 of the entry and version 3 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

Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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