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Protein

Histone H2A-Bbd type 2/3

Gene

H2AFB2

more
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

Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with active transcription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigid and organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes and associate with the elongating form of RNA polymerase. They associate with spliceosome components and are required for mRNA splicing. May participate in spermatogenesis.7 Publications

Miscellaneous

In contrast to other H2A histones, it does not contain the conserved residues that are the target of post-translational modifications.

<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

  • DNA binding Source: GO_Central
  • protein heterodimerization activity Source: InterPro

GO - Biological processi

  • chromatin organization Source: GO_Central
  • mRNA processing Source: UniProtKB
  • nucleosome assembly Source: UniProtKB

<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 functionDNA-binding
Biological processmRNA processing

<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:
Histone H2A-Bbd type 2/3
Alternative name(s):
H2A Barr body-deficient
Short name:
H2A.Bbd
<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:H2AFB2
AND
Name:H2AFB3
Synonyms:H2ABBD, H2AFB
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000277745.1
HostDB:ENSG00000277858.1

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18298 H2AFB2
HGNC:14455 H2AFB3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300445 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P0C5Z0

<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

Keywords - Cellular componenti

Chromosome, Nucleosome core, Nucleus

<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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29101

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
161784333

<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_00000553211 – 115Histone H2A-Bbd type 2/3Add BLAST115

Proteomic databases

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

More...
PaxDbi
P0C5Z0

PeptideAtlas

More...
PeptideAtlasi
P0C5Z0

PRoteomics IDEntifications database

More...
PRIDEi
P0C5Z0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52314

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P0C5Z0

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

More...
PhosphoSitePlusi
P0C5Z0

<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

Present in mature sperm.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000277745 Expressed in 74 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_H2AFB2
HS_H2AFB3

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P0C5Z0 HS

<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

The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. May be incorporated into a proportion of nucleosomes, replacing one or more H2A molecules.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123748, 1 interactor

Protein interaction database and analysis system

More...
IntActi
P0C5Z0, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358452

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P0C5Z0

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

More...
SMRi
P0C5Z0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

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>Regioni87 – 115Docking domainAdd BLAST29

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

The docking domain is responsible for the weaker heterodimerization with H2B.1 Publication

<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 histone H2A family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1756 Eukaryota
COG5262 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163020

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234652

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG009342

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P0C5Z0

KEGG Orthology (KO)

More...
KOi
K11251

Identification of Orthologs from Complete Genome Data

More...
OMAi
DMAVHNN

Database of Orthologous Groups

More...
OrthoDBi
EOG091G15D9

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P0C5Z0

TreeFam database of animal gene trees

More...
TreeFami
TF300137

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.20.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009072 Histone-fold
IPR002119 Histone_H2A

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00620 HISTONEH2A

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00414 H2A, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47113 SSF47113, 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>Sequencei

<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.

P0C5Z0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPRRRRRRGS SGAGGRGRTC SRTVRAELSF SVSQVERSLR EGHYAQRLSR
60 70 80 90 100
TAPVYLAAVI EYLTAKVLEL AGNEAQNSGE RNITPLLLDM VVHNDRLLST
110
LFNTTTISQV APGED
Length:115
Mass (Da):12,713
Last modified:December 4, 2007 - v1
<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:iF7CA7588C2F57451
GO

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
AF254576 mRNA Translation: AAL01652.1
BX276110 Genomic DNA No translation available.
BX682237 Genomic DNA No translation available.
CH471172 Genomic DNA Translation: EAW72649.1
BC101409 mRNA Translation: AAI01410.1
BC101415 mRNA Translation: AAI01416.1
BC101417 mRNA Translation: AAI01418.1
BC101418 mRNA Translation: AAI01419.1
BC130510 mRNA Translation: AAI30511.1
BC130512 mRNA Translation: AAI30513.1
BC134365 mRNA Translation: AAI34366.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35461.1
CCDS35464.1

NCBI Reference Sequences

More...
RefSeqi
NP_001017991.1, NM_001017991.2
NP_542451.1, NM_080720.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.534498
Hs.632841

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000354514; ENSP00000346509; ENSG00000277858
ENST00000615853; ENSP00000482564; ENSG00000277745

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
474381
83740

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:474381
hsa:83740

UCSC genome browser

More...
UCSCi
uc004fnh.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Histone H2A entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF254576 mRNA Translation: AAL01652.1
BX276110 Genomic DNA No translation available.
BX682237 Genomic DNA No translation available.
CH471172 Genomic DNA Translation: EAW72649.1
BC101409 mRNA Translation: AAI01410.1
BC101415 mRNA Translation: AAI01416.1
BC101417 mRNA Translation: AAI01418.1
BC101418 mRNA Translation: AAI01419.1
BC130510 mRNA Translation: AAI30511.1
BC130512 mRNA Translation: AAI30513.1
BC134365 mRNA Translation: AAI34366.1
CCDSiCCDS35461.1
CCDS35464.1
RefSeqiNP_001017991.1, NM_001017991.2
NP_542451.1, NM_080720.1
UniGeneiHs.534498
Hs.632841

3D structure databases

ProteinModelPortaliP0C5Z0
SMRiP0C5Z0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123748, 1 interactor
IntActiP0C5Z0, 5 interactors
STRINGi9606.ENSP00000358452

PTM databases

iPTMnetiP0C5Z0
PhosphoSitePlusiP0C5Z0

Polymorphism and mutation databases

DMDMi161784333

Proteomic databases

PaxDbiP0C5Z0
PeptideAtlasiP0C5Z0
PRIDEiP0C5Z0
ProteomicsDBi52314

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
474381
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354514; ENSP00000346509; ENSG00000277858
ENST00000615853; ENSP00000482564; ENSG00000277745
GeneIDi474381
83740
KEGGihsa:474381
hsa:83740
UCSCiuc004fnh.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
474381
83740
EuPathDBiHostDB:ENSG00000277745.1
HostDB:ENSG00000277858.1

GeneCards: human genes, protein and diseases

More...
GeneCardsi
H2AFB2
H2AFB3
HGNCiHGNC:18298 H2AFB2
HGNC:14455 H2AFB3
MIMi300445 gene
neXtProtiNX_P0C5Z0
PharmGKBiPA29101

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1756 Eukaryota
COG5262 LUCA
GeneTreeiENSGT00940000163020
HOGENOMiHOG000234652
HOVERGENiHBG009342
InParanoidiP0C5Z0
KOiK11251
OMAiDMAVHNN
OrthoDBiEOG091G15D9
PhylomeDBiP0C5Z0
TreeFamiTF300137

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
H2AFB2
H2AFB3

Protein Ontology

More...
PROi
PR:P0C5Z0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000277745 Expressed in 74 organ(s), highest expression level in testis
CleanExiHS_H2AFB2
HS_H2AFB3
GenevisibleiP0C5Z0 HS

Family and domain databases

Gene3Di1.10.20.10, 1 hit
InterProiView protein in InterPro
IPR009072 Histone-fold
IPR002119 Histone_H2A
PRINTSiPR00620 HISTONEH2A
SMARTiView protein in SMART
SM00414 H2A, 1 hit
SUPFAMiSSF47113 SSF47113, 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 nameiH2AB2_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: P0C5Z0
Secondary accession number(s): A1L4E4
, P98176, Q5TZB2, Q6FG78, Q96PR7
<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: December 4, 2007
Last sequence update: December 4, 2007
Last modified: December 5, 2018
This is version 89 of the entry and version 1 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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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