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Protein

Selenoprotein O

Gene

SELENOO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

May be a redox-active mitochondrial selenoprotein which interacts with a redox target protein.1 Publication

<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:
Selenoprotein O1 Publication
Short name:
SelO3 Publications
<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:SELENOOImported
Synonyms:SELO3 Publications
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30395 SELENOO

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607917 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BVL4

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

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

<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

Mitochondrion

<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

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>Mutagenesisi664 – 667CVTU → SVTC: Enhances redox complex formation. 1 Publication4
Mutagenesisi664 – 667CVTU → SVTS: Abolishes redox complex formation. 1 Publication4
Mutagenesisi664C → S: No effect on redox complex formation. 1 Publication1
Mutagenesisi667U → C: Slightly enhances redox complex formation. 1 Publication1
Mutagenesisi667U → S: No effect on redox complex formation. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
83642

Open Targets

More...
OpenTargetsi
ENSG00000073169

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SELO

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172045770

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001213991 – 669Selenoprotein OAdd BLAST669

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei635PhosphothreonineCombined sources1
Modified residuei653PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BVL4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BVL4

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

More...
PaxDbi
Q9BVL4

PeptideAtlas

More...
PeptideAtlasi
Q9BVL4

PRoteomics IDEntifications database

More...
PRIDEi
Q9BVL4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
79218

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BVL4

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

More...
PhosphoSitePlusi
Q9BVL4

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9BVL4

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

Gene expression databases

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BVL4 baseline and differential

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123706, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q9BVL4, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000370288

<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

<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 UPF0061 (SELO) family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2542 Eukaryota
COG0397 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005508

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000008335

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG044520

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BVL4

Identification of Orthologs from Complete Genome Data

More...
OMAi
GFMDRYD

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BVL4

Family and domain databases

HAMAP database of protein families

More...
HAMAPi
MF_00692 UPF0061, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003846 UPF0061

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02696 UPF0061, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

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

Q9BVL4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAVYRAALGA SLAAARLLPL GRCSPSPAPR STLSGAAMEP APRWLAGLRF
60 70 80 90 100
DNRALRALPV EAPPPGPEGA PSAPRPVPGA CFTRVQPTPL RQPRLVALSE
110 120 130 140 150
PALALLGLGA PPAREAEAEA ALFFSGNALL PGAEPAAHCY CGHQFGQFAG
160 170 180 190 200
QLGDGAAMYL GEVCTATGER WELQLKGAGP TPFSRQADGR KVLRSSIREF
210 220 230 240 250
LCSEAMFHLG VPTTRAGACV TSESTVVRDV FYDGNPKYEQ CTVVLRVAST
260 270 280 290 300
FIRFGSFEIF KSADEHTGRA GPSVGRNDIR VQLLDYVISS FYPEIQAAHA
310 320 330 340 350
SDSVQRNAAF FREVTRRTAR MVAEWQCVGF CHGVLNTDNM SILGLTIDYG
360 370 380 390 400
PFGFLDRYDP DHVCNASDNT GRYAYSKQPE VCRWNLRKLA EALQPELPLE
410 420 430 440 450
LGEAILAEEF DAEFQRHYLQ KMRRKLGLVQ VELEEDGALV SKLLETMHLT
460 470 480 490 500
GADFTNTFYL LSSFPVELES PGLAEFLARL MEQCASLEEL RLAFRPQMDP
510 520 530 540 550
RQLSMMLMLA QSNPQLFALM GTRAGIAREL ERVEQQSRLE QLSAAELQSR
560 570 580 590 600
NQGHWADWLQ AYRARLDKDL EGAGDAAAWQ AEHVRVMHAN NPKYVLRNYI
610 620 630 640 650
AQNAIEAAER GDFSEVRRVL KLLETPYHCE AGAATDAEAT EADGADGRQR
660
SYSSKPPLWA AELCVTUSS
Length:669
Mass (Da):73,489
Last modified:February 26, 2008 - 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:iF2242E25B2E0EE68
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
A0A087X0Q9A0A087X0Q9_HUMAN
Selenoprotein O
SELENOO
668Annotation 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>

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

The sequence AAH01099 differs from that shown. Reason: Erroneous termination at position 667. Translated as Sec.Curated
The sequence AAH20510 differs from that shown. Reason: Erroneous termination at position 667. Translated as Sec.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti253R → RGWGQVWPVDASGLPSR in AAH20510 (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_0599523V → A1 PublicationCorresponds to variant dbSNP:rs5771225Ensembl.1
Natural variantiVAR_059953167T → N1 PublicationCorresponds to variant dbSNP:rs2272846Ensembl.1
Natural variantiVAR_059954630E → K. Corresponds to variant dbSNP:rs2272852Ensembl.1
Natural variantiVAR_059955638E → K. Corresponds to variant dbSNP:rs17013238Ensembl.1

Non-standard residue

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the occurrence of non-standard amino acids selenocysteine (Sec) or pyrrolysine (Pyl) in the protein sequence.<p><a href='/help/non_std' target='_top'>More...</a></p>Non-standard residuei667Selenocysteine1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY324823 mRNA Translation: AAP85540.1
AL022328 Genomic DNA No translation available.
BC001099 mRNA Translation: AAH01099.3 Sequence problems.
BC020510 mRNA Translation: AAH20510.1 Sequence problems.
BC110866 mRNA Translation: AAI10867.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43034.1

NCBI Reference Sequences

More...
RefSeqi
NP_113642.1, NM_031454.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.365405

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000380903; ENSP00000370288; ENSG00000073169

GeneDB pathogen genome database from Sanger Institute

More...
GeneDBi
Smp_196150.1:pep

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
83642

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:83642

Keywords - Coding sequence diversityi

Polymorphism, Selenocysteine

<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
AY324823 mRNA Translation: AAP85540.1
AL022328 Genomic DNA No translation available.
BC001099 mRNA Translation: AAH01099.3 Sequence problems.
BC020510 mRNA Translation: AAH20510.1 Sequence problems.
BC110866 mRNA Translation: AAI10867.1
CCDSiCCDS43034.1
RefSeqiNP_113642.1, NM_031454.1
UniGeneiHs.365405

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Protein-protein interaction databases

BioGridi123706, 18 interactors
IntActiQ9BVL4, 1 interactor
STRINGi9606.ENSP00000370288

PTM databases

iPTMnetiQ9BVL4
PhosphoSitePlusiQ9BVL4
SwissPalmiQ9BVL4

Polymorphism and mutation databases

BioMutaiSELO
DMDMi172045770

Proteomic databases

EPDiQ9BVL4
MaxQBiQ9BVL4
PaxDbiQ9BVL4
PeptideAtlasiQ9BVL4
PRIDEiQ9BVL4
ProteomicsDBi79218

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
83642
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380903; ENSP00000370288; ENSG00000073169
GeneDBiSmp_196150.1:pep
GeneIDi83642
KEGGihsa:83642

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
83642
DisGeNETi83642

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SELENOO

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0027838
HGNCiHGNC:30395 SELENOO
MIMi607917 gene
neXtProtiNX_Q9BVL4
OpenTargetsiENSG00000073169

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2542 Eukaryota
COG0397 LUCA
GeneTreeiENSGT00390000005508
HOGENOMiHOG000008335
HOVERGENiHBG044520
InParanoidiQ9BVL4
OMAiGFMDRYD
PhylomeDBiQ9BVL4

Miscellaneous databases

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

More...
ChiTaRSi
SELENOO human

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

More...
GenomeRNAii
83642

Protein Ontology

More...
PROi
PR:Q9BVL4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

ExpressionAtlasiQ9BVL4 baseline and differential

Family and domain databases

HAMAPiMF_00692 UPF0061, 1 hit
InterProiView protein in InterPro
IPR003846 UPF0061
PfamiView protein in Pfam
PF02696 UPF0061, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSELO_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: Q9BVL4
Secondary accession number(s): Q2TAL2, Q5JZ81, Q8WUI0
<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 4, 2003
Last sequence update: February 26, 2008
Last modified: November 7, 2018
This is version 128 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

Complete proteome, Reference proteome

Documents

  1. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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