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UniProtKB - Q8NBK3 (SUMF1_HUMAN)

Entry version 162 (13 Nov 2019)
Sequence version 3 (29 Mar 2005)
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Protein

Formylglycine-generating enzyme

Gene

SUMF1

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

Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756, PubMed:21224894). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:25931126, PubMed:16368756). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15907468, PubMed:15657036).6 Publications

Miscellaneous

The resulting 3-oxoalanine in the substrate protein is called C(alpha)-formylglycine by many authors. It should not be confused with N-formylglycine.

Caution

The disulfide bond observed in the structure does not exist in vivo (PubMed:15907468). The enzyme reaction was initially thought to act via a redox-active disulfide bond mechanism; however the disulfide bond only takes place with inactive enzyme that lacks the copper cofactor (PubMed:25931126). The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation (PubMed:25931126).2 Publications

<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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Cu2+1 PublicationNote: The catalytic copper is required to activate oxygen and catalyze oxidative C-H activation.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Kcat is 6.06 min(-1) with [sulfatase]-L-cysteine as substrate.1 Publication
  1. KM=0.34 µM for [sulfatase]-L-cysteine1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sulfatase oxidation

    This protein is involved in the pathway sulfatase oxidation, which is part of Protein modification.4 Publications
    View all proteins of this organism that are known to be involved in the pathway sulfatase oxidation and in Protein modification.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi130Calcium 21 Publication1
    Metal bindingi259Calcium 11 Publication1
    Metal bindingi260Calcium 1; via carbonyl oxygen1 Publication1
    Metal bindingi273Calcium 11 Publication1
    Metal bindingi275Calcium 1; via carbonyl oxygen1 Publication1
    Metal bindingi293Calcium 2; via carbonyl oxygen1 Publication1
    Metal bindingi296Calcium 2; via carbonyl oxygen1 Publication1
    Metal bindingi298Calcium 2; via carbonyl oxygen1 Publication1
    Metal bindingi300Calcium 21 Publication1
    Metal bindingi336Copper(2+); catalytic1 Publication1
    Metal bindingi341Copper(2+); catalytic1 Publication1

    <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 functionOxidoreductase
    LigandCalcium, Copper, Metal-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:ENSG00000144455-MONOMER

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-1660662 Glycosphingolipid metabolism
    R-HSA-1663150 The activation of arylsulfatases

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...    UniPathwayi    		UPA00910

    <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:
    Formylglycine-generating enzyme1 Publication (EC:1.8.3.72 Publications)
    Short name:
    FGE1 Publication
    Alternative name(s):
    C-alpha-formylglycine-generating enzyme 11 Publication
    Sulfatase-modifying factor 11 Publication
    <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:SUMF11 PublicationImported
    ORF Names:PSEC01521 Publication, UNQ3037/PRO98521 Publication
    <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 3

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:20376 SUMF1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		607939 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q8NBK3

    <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

    Endoplasmic reticulum

    <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

    Multiple sulfatase deficiency (MSD)5 Publications
    The disease is caused by mutations affecting the gene represented in this entry. SUMF1 mutations result in defective post-translational modification of sulfatases.1 Publication
    Disease descriptionA clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
    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_01905020L → F in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs200142963EnsemblClinVar.1
    Natural variantiVAR_016053155S → P in MSD; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs137852850EnsemblClinVar.1
    Natural variantiVAR_019051177A → P in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type. 2 Publications1
    Natural variantiVAR_042602179W → S in MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type. 1 PublicationCorresponds to variant dbSNP:rs757323641Ensembl.1
    Natural variantiVAR_016054218C → Y in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852854EnsemblClinVar.1
    Natural variantiVAR_019052224R → W in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759888604Ensembl.1
    Natural variantiVAR_080468247G → R in MSD. 1 PublicationCorresponds to variant dbSNP:rs1057517363EnsemblClinVar.1
    Natural variantiVAR_019053259N → I in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs764215221Ensembl.1
    Natural variantiVAR_080469263G → V in MSD; mild phenotype; reduced but not abolished activity. 1 PublicationCorresponds to variant dbSNP:rs387906976EnsemblClinVar.1
    Natural variantiVAR_019054266P → L in MSD; retains some activity. 1 PublicationCorresponds to variant dbSNP:rs763243827Ensembl.1
    Natural variantiVAR_016055279A → V in MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased. 3 PublicationsCorresponds to variant dbSNP:rs137852849EnsemblClinVar.1
    Natural variantiVAR_080470327 – 374Missing in MSD; almost abolished enzyme activity. 1 PublicationAdd BLAST48
    Natural variantiVAR_016056336C → R in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852848EnsemblClinVar.1
    Natural variantiVAR_016057345R → C in MSD; reduced but not abolished activity. 3 PublicationsCorresponds to variant dbSNP:rs137852852EnsemblClinVar.1
    Natural variantiVAR_016058348A → P in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852853EnsemblClinVar.1
    Natural variantiVAR_016059349R → Q in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852847EnsemblClinVar.1
    Natural variantiVAR_016060349R → W in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased. 4 PublicationsCorresponds to variant dbSNP:rs137852846EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi333S → A: Loss of activity. 1 Publication1
    Mutagenesisi333S → T: Reduces activity by 99%. 1 Publication1
    Mutagenesisi336C → S: Loss of activity. 1 Publication1
    Mutagenesisi337H → A: Reduces activity 5-fold. 1 Publication1
    Mutagenesisi340Y → F: No effect. 1 Publication1
    Mutagenesisi341C → S: Loss of activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation, Ichthyosis, Leukodystrophy, Metachromatic leukodystrophy, Mucopolysaccharidosis

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		285362

    MalaCards human disease database

    More...    MalaCardsi    		SUMF1
    MIMi272200 phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000144455

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

    More...    Orphaneti    		585 Multiple sulfatase deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134977552

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q8NBK3

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		SUMF1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		62298562

    <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 – 331 PublicationAdd BLAST33
    <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_000003345634 – 374Formylglycine-generating enzymeAdd BLAST341

    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 bondi50 ↔ 522 Publications
    <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>Glycosylationi141N-linked (GlcNAc...) asparagine3 Publications1
    Disulfide bondi218 ↔ 3652 Publications
    Disulfide bondi235 ↔ 3462 Publications

    <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

    N-glycosylated. Contains high-mannose-type oligosaccharides.3 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q8NBK3

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q8NBK3

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q8NBK3

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q8NBK3

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

    More...    PaxDbi    		Q8NBK3

    PeptideAtlas

    More...    PeptideAtlasi    		Q8NBK3

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q8NBK3

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		20338
    33885
    72786 [Q8NBK3-1]
    72787 [Q8NBK3-2]
    72788 [Q8NBK3-3]

    PTM databases

    GlyConnect protein glycosylation platform

    More...    GlyConnecti    		1772

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q8NBK3

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

    More...    PhosphoSitePlusi    		Q8NBK3

    <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

    Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000144455 Expressed in 209 organ(s), highest expression level in metanephros

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q8NBK3 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q8NBK3 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		HPA038025

    <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, homodimer and heterodimer with SUMF2.

    3 Publications

    GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...    BioGridi    		130091, 19 interactors

    Protein interaction database and analysis system

    More...    IntActi    		Q8NBK3, 17 interactors

    Molecular INTeraction database

    More...    MINTi    		Q8NBK3

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000272902

    <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

    1374
    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    		Q8NBK3

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		Q8NBK3

    <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

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni341 – 360Interaction with sulfatases1 PublicationAdd BLAST20

    <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 sulfatase-modifying factor family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		ENOG410IEYZ Eukaryota
    COG1262 LUCA

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00390000008983

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		HOG000135466

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q8NBK3

    KEGG Orthology (KO)

    More...    KOi    		K13444

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		WTADLWD

    Database of Orthologous Groups

    More...    OrthoDBi    		835112at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q8NBK3

    TreeFam database of animal gene trees

    More...    TreeFami    		TF324027

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.90.1580.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR016187 CTDL_fold
    IPR005532 SUMF_dom
    IPR042095 SUMF_sf

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF03781 FGE-sulfatase, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF56436 SSF56436, 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>. 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 (5+)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 5 <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 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q8NBK3-1) [UniParc]FASTAAdd to basket

    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.

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            10         20         30         40         50
    MAAPALGLVC GRCPELGLVL LLLLLSLLCG AAGSQEAGTG AGAGSLAGSC 
            60         70         80         90        100
    GCGTPQRPGA HGSSAAAHRY SREANAPGPV PGERQLAHSK MVPIPAGVFT 
           110        120        130        140        150
    MGTDDPQIKQ DGEAPARRVT IDAFYMDAYE VSNTEFEKFV NSTGYLTEAE 
           160        170        180        190        200
    KFGDSFVFEG MLSEQVKTNI QQAVAAAPWW LPVKGANWRH PEGPDSTILH 
           210        220        230        240        250
    RPDHPVLHVS WNDAVAYCTW AGKRLPTEAE WEYSCRGGLH NRLFPWGNKL 
           260        270        280        290        300
    QPKGQHYANI WQGEFPVTNT GEDGFQGTAP VDAFPPNGYG LYNIVGNAWE 
           310        320        330        340        350
    WTSDWWTVHH SVEETLNPKG PPSGKDRVKK GGSYMCHRSY CYRYRCAARS 
           360        370 
    QNTPDSSASN LGFRCAADRL PTMD
    Length:374
    Mass (Da):40,556
    Last modified:March 29, 2005 - 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:iE64F2DF004C8CEA3
    GO
    Isoform 2 (identifier: Q8NBK3-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-90: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:284
    Mass (Da):31,900
    Checksum:iE616A28A77F81996
    GO
    Isoform 3 (identifier: Q8NBK3-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         340-374: YCYRYRCAARSQNTPDSSASNLGFRCAADRLPTMD → QEYYDPYFQD...QHGPRLHCVD

    Show »
    Length:426
    Mass (Da):46,857
    Checksum:i957E7E1E13D034A6
    GO
    Isoform 4 (identifier: Q8NBK3-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         149-173: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:349
    Mass (Da):37,770
    Checksum:i4C5192677FABF9CC
    GO
    Isoform 5 (identifier: Q8NBK3-5) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         319-338: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:354
    Mass (Da):38,386
    Checksum:iAB2E4103EAC0E027
    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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    E9PF05E9PF05_HUMAN
    Formylglycine-generating enzyme
    SUMF1
    		242Annotation 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>
    F5GXA0F5GXA0_HUMAN
    Formylglycine-generating enzyme
    SUMF1
    		426Annotation 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 conflicti112G → E in BAG63417 (PubMed:14702039).Curated1
    Sequence conflicti119V → A in AAI21124 (PubMed:15489334).Curated1
    Sequence conflicti124F → L in BAC11634 (PubMed:16303743).Curated1
    Sequence conflicti264E → D in BAC11634 (PubMed:16303743).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01905020L → F in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs200142963EnsemblClinVar.1
    Natural variantiVAR_01605263S → N2 PublicationsCorresponds to variant dbSNP:rs2819590EnsemblClinVar.1
    Natural variantiVAR_016053155S → P in MSD; loss of enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs137852850EnsemblClinVar.1
    Natural variantiVAR_019051177A → P in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type. 2 Publications1
    Natural variantiVAR_042602179W → S in MSD; decreases its specific enzyme activity to less than 3%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is almost comparable to wild-type. 1 PublicationCorresponds to variant dbSNP:rs757323641Ensembl.1
    Natural variantiVAR_016054218C → Y in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852854EnsemblClinVar.1
    Natural variantiVAR_019052224R → W in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs759888604Ensembl.1
    Natural variantiVAR_080468247G → R in MSD. 1 PublicationCorresponds to variant dbSNP:rs1057517363EnsemblClinVar.1
    Natural variantiVAR_019053259N → I in MSD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs764215221Ensembl.1
    Natural variantiVAR_080469263G → V in MSD; mild phenotype; reduced but not abolished activity. 1 PublicationCorresponds to variant dbSNP:rs387906976EnsemblClinVar.1
    Natural variantiVAR_019054266P → L in MSD; retains some activity. 1 PublicationCorresponds to variant dbSNP:rs763243827Ensembl.1
    Natural variantiVAR_016055279A → V in MSD; loss of activity; decreases its specific enzyme activity to about 23%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is decreased. 3 PublicationsCorresponds to variant dbSNP:rs137852849EnsemblClinVar.1
    Natural variantiVAR_080470327 – 374Missing in MSD; almost abolished enzyme activity. 1 PublicationAdd BLAST48
    Natural variantiVAR_016056336C → R in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852848EnsemblClinVar.1
    Natural variantiVAR_016057345R → C in MSD; reduced but not abolished activity. 3 PublicationsCorresponds to variant dbSNP:rs137852852EnsemblClinVar.1
    Natural variantiVAR_016058348A → P in MSD; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs137852853EnsemblClinVar.1
    Natural variantiVAR_016059349R → Q in MSD; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs137852847EnsemblClinVar.1
    Natural variantiVAR_016060349R → W in MSD; loss of activity; decreases its specific enzyme activity to less than 1%; does not affect localization of the protein in the endoplasmic reticulum of MSD fibroblasts; protein stability is severely decreased. 4 PublicationsCorresponds to variant dbSNP:rs137852846EnsemblClinVar.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_0078771 – 90Missing in isoform 2. 1 PublicationAdd BLAST90
    Alternative sequenceiVSP_045414149 – 173Missing in isoform 4. 1 PublicationAdd BLAST25
    Alternative sequenceiVSP_045415319 – 338Missing in isoform 5. 1 PublicationAdd BLAST20
    Alternative sequenceiVSP_013185340 – 374YCYRY…LPTMD → QEYYDPYFQDVASEMLRRHT ASRWKAFSSLEPCCSIRRHQ QYAAIERLTCGKFELRCASL RKIDCLNTNIACSYSMRQHG PRLHCVD in isoform 3. 1 PublicationAdd BLAST35

    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
    		AY208752 mRNA Translation: AAO34683.1
    AY323910 mRNA Translation: AAP86217.1
    AB448737 mRNA Translation: BAH11168.1
    AY358092 mRNA Translation: AAQ88459.1
    AK057983 mRNA Translation: BAB71625.1
    AK302018 mRNA Translation: BAG63417.1
    AK075459 mRNA Translation: BAC11634.1
    AC018822 Genomic DNA No translation available.
    AC023480 Genomic DNA No translation available.
    AC023483 Genomic DNA No translation available.
    AC023484 Genomic DNA No translation available.
    AC024167 Genomic DNA No translation available.
    AC024168 Genomic DNA No translation available.
    AC034191 Genomic DNA No translation available.
    CH471055 Genomic DNA Translation: EAW63906.1
    CH471055 Genomic DNA Translation: EAW63907.1
    BC017005 mRNA Translation: AAH17005.2
    BC110862 mRNA Translation: AAI10863.1
    BC121122 mRNA Translation: AAI21123.1
    BC121123 mRNA Translation: AAI21124.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS2564.1 [Q8NBK3-1]
    CCDS54548.1 [Q8NBK3-4]
    CCDS54549.1 [Q8NBK3-5]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001158146.1, NM_001164674.1 [Q8NBK3-4]
    NP_001158147.1, NM_001164675.1 [Q8NBK3-5]
    NP_877437.2, NM_182760.3 [Q8NBK3-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000272902; ENSP00000272902; ENSG00000144455 [Q8NBK3-1]
    ENST00000383843; ENSP00000373355; ENSG00000144455 [Q8NBK3-4]
    ENST00000405420; ENSP00000384977; ENSG00000144455 [Q8NBK3-5]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		285362

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:285362

    UCSC genome browser

    More...    UCSCi    		uc003bpz.3 human [Q8NBK3-1]

    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
    		AY208752 mRNA Translation: AAO34683.1
    AY323910 mRNA Translation: AAP86217.1
    AB448737 mRNA Translation: BAH11168.1
    AY358092 mRNA Translation: AAQ88459.1
    AK057983 mRNA Translation: BAB71625.1
    AK302018 mRNA Translation: BAG63417.1
    AK075459 mRNA Translation: BAC11634.1
    AC018822 Genomic DNA No translation available.
    AC023480 Genomic DNA No translation available.
    AC023483 Genomic DNA No translation available.
    AC023484 Genomic DNA No translation available.
    AC024167 Genomic DNA No translation available.
    AC024168 Genomic DNA No translation available.
    AC034191 Genomic DNA No translation available.
    CH471055 Genomic DNA Translation: EAW63906.1
    CH471055 Genomic DNA Translation: EAW63907.1
    BC017005 mRNA Translation: AAH17005.2
    BC110862 mRNA Translation: AAI10863.1
    BC121122 mRNA Translation: AAI21123.1
    BC121123 mRNA Translation: AAI21124.1
    CCDSiCCDS2564.1 [Q8NBK3-1]
    CCDS54548.1 [Q8NBK3-4]
    CCDS54549.1 [Q8NBK3-5]
    RefSeqiNP_001158146.1, NM_001164674.1 [Q8NBK3-4]
    NP_001158147.1, NM_001164675.1 [Q8NBK3-5]
    NP_877437.2, NM_182760.3 [Q8NBK3-1]

    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
    1Y1EX-ray1.73X73-374[»]
    1Y1FX-ray1.80X73-374[»]
    1Y1GX-ray1.67X73-374[»]
    1Y1HX-ray1.67X73-374[»]
    1Y1IX-ray2.61X73-374[»]
    1Y1JX-ray1.55X73-374[»]
    1Z70X-ray1.15X73-374[»]
    2AFTX-ray1.66X86-371[»]
    2AFYX-ray1.49X86-371[»]
    2AIIX-ray1.54X86-371[»]
    2AIJX-ray1.55X86-371[»]
    2AIKX-ray1.73X86-371[»]
    2HI8X-ray1.64X86-371[»]
    2HIBX-ray2.00X86-371[»]
    SMRiQ8NBK3
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi130091, 19 interactors
    IntActiQ8NBK3, 17 interactors
    MINTiQ8NBK3
    STRINGi9606.ENSP00000272902

    PTM databases

    GlyConnecti1772
    iPTMnetiQ8NBK3
    PhosphoSitePlusiQ8NBK3

    Polymorphism and mutation databases

    BioMutaiSUMF1
    DMDMi62298562

    Proteomic databases

    EPDiQ8NBK3
    jPOSTiQ8NBK3
    MassIVEiQ8NBK3
    MaxQBiQ8NBK3
    PaxDbiQ8NBK3
    PeptideAtlasiQ8NBK3
    PRIDEiQ8NBK3
    ProteomicsDBi20338
    33885
    72786 [Q8NBK3-1]
    72787 [Q8NBK3-2]
    72788 [Q8NBK3-3]

    Genome annotation databases

    EnsembliENST00000272902; ENSP00000272902; ENSG00000144455 [Q8NBK3-1]
    ENST00000383843; ENSP00000373355; ENSG00000144455 [Q8NBK3-4]
    ENST00000405420; ENSP00000384977; ENSG00000144455 [Q8NBK3-5]
    GeneIDi285362
    KEGGihsa:285362
    UCSCiuc003bpz.3 human [Q8NBK3-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		285362
    DisGeNETi285362

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		SUMF1
    HGNCiHGNC:20376 SUMF1
    HPAiHPA038025
    MalaCardsiSUMF1
    MIMi272200 phenotype
    607939 gene
    neXtProtiNX_Q8NBK3
    OpenTargetsiENSG00000144455
    Orphaneti585 Multiple sulfatase deficiency
    PharmGKBiPA134977552

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiENOG410IEYZ Eukaryota
    COG1262 LUCA
    GeneTreeiENSGT00390000008983
    HOGENOMiHOG000135466
    InParanoidiQ8NBK3
    KOiK13444
    OMAiWTADLWD
    OrthoDBi835112at2759
    PhylomeDBiQ8NBK3
    TreeFamiTF324027

    Enzyme and pathway databases

    UniPathwayiUPA00910
    BioCyciMetaCyc:ENSG00000144455-MONOMER
    ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
    R-HSA-1663150 The activation of arylsulfatases

    Miscellaneous databases

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

    More...    ChiTaRSi    		SUMF1 human
    EvolutionaryTraceiQ8NBK3

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		SUMF1

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

    More...    GenomeRNAii    		285362
    PharosiQ8NBK3

    Protein Ontology

    More...    PROi    		PR:Q8NBK3

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000144455 Expressed in 209 organ(s), highest expression level in metanephros
    ExpressionAtlasiQ8NBK3 baseline and differential
    GenevisibleiQ8NBK3 HS

    Family and domain databases

    Gene3Di3.90.1580.10, 1 hit
    InterProiView protein in InterPro
    IPR016187 CTDL_fold
    IPR005532 SUMF_dom
    IPR042095 SUMF_sf
    PfamiView protein in Pfam
    PF03781 FGE-sulfatase, 1 hit
    SUPFAMiSSF56436 SSF56436, 1 hit

    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 nameiSUMF1_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: Q8NBK3
    Secondary accession number(s): B4DXK5
    , B7XD05, E9PGL0, G5E9B0, Q0VAC6, Q0VAC7, Q2NL78, Q53ZE4, Q6UY39, Q96AK5, Q96DK8
    <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 25, 2003
    Last sequence update: March 29, 2005
    Last modified: November 13, 2019
    This is version 162 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

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
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