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Protein

Adenosine deaminase 2

Gene

ADA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.2 Publications

Miscellaneous

Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

Catalytic activityi

Adenosine + H2O = inosine + NH3.2 Publications

Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

Kineticsi

  1. KM=2.25 mM for adenosine1 Publication

    pH dependencei

    Optimum pH is 6.6.1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Metal bindingi112Zinc; catalytic1
    Metal bindingi114Zinc; catalytic1
    Binding sitei115Substrate1
    Binding sitei293Substrate1
    Binding sitei326Substrate; via amide nitrogen1
    Metal bindingi356Zinc; catalytic1
    Active sitei359Proton donorCurated1
    Active sitei384Proton acceptorCurated1
    Metal bindingi441Zinc; catalytic1
    Binding sitei442Substrate1

    GO - Molecular functioni

    • adenosine deaminase activity Source: UniProtKB
    • adenosine receptor binding Source: UniProtKB
    • growth factor activity Source: GO_Central
    • heparin binding Source: UniProtKB-KW
    • protein homodimerization activity Source: UniProtKB
    • proteoglycan binding Source: UniProtKB
    • zinc ion binding Source: UniProtKB

    GO - Biological processi

    Keywordsi

    Molecular functionHeparin-binding, Hydrolase
    LigandMetal-binding, Zinc

    Enzyme and pathway databases

    BRENDAi3.5.4.4 2681
    ReactomeiR-HSA-5683826 Surfactant metabolism
    R-HSA-6798695 Neutrophil degranulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Adenosine deaminase 2Imported (EC:3.5.4.42 Publications)
    Alternative name(s):
    Cat eye syndrome critical region protein 1
    Gene namesi
    Name:ADA2Imported
    Synonyms:ADGF, CECR1, IDGFL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 22

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000093072.15
    HGNCiHGNC:1839 ADA2
    MIMi607575 gene
    neXtProtiNX_Q9NZK5

    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

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Polyarteritis nodosa (PAN)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
    See also OMIM:615688
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07113747G → R in PAN; there is a decreased expression of the mutant protein compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs202134424Ensembl.1
    Natural variantiVAR_07113847G → V in PAN. 1 PublicationCorresponds to variant dbSNP:rs200930463EnsemblClinVar.1
    Natural variantiVAR_071139109A → D in PAN. 1 PublicationCorresponds to variant dbSNP:rs587777240EnsemblClinVar.1
    Natural variantiVAR_071140112H → Q in PAN. 1 PublicationCorresponds to variant dbSNP:rs587777241EnsemblClinVar.1
    Natural variantiVAR_071141169R → Q in PAN. 2 PublicationsCorresponds to variant dbSNP:rs77563738EnsemblClinVar.1
    Natural variantiVAR_071142251P → L in PAN. 1 PublicationCorresponds to variant dbSNP:rs148936893EnsemblClinVar.1
    Natural variantiVAR_071143264W → S in PAN. 1 PublicationCorresponds to variant dbSNP:rs587777242EnsemblClinVar.1
    Natural variantiVAR_071144453Y → C in PAN. 1 PublicationCorresponds to variant dbSNP:rs376785840EnsemblClinVar.1
    Sneddon syndrome (SNDDS)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA systemic non-inflammatory thrombotic vasculopathy characterized by the association of livedo racemosa, and in some cases livedo reticularis, with cerebrovascular disease. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting the legs, the arms, the buttocks and the trunk; livedo reticularis is limited to the extremities and is visible only in the cold. Cerebrovascular features include recurrent transient ischemic attacks, infarcts, and rarely spinal strokes or intracranial or subarachnoid hemorrhages. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. Rare neurologic symptoms include seizures, chorea, or myelopathies.
    See also OMIM:182410
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_072562119V → A in SNDDS. 1 Publication1
    Natural variantiVAR_072563142G → S in SNDDS. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi137C → G: Abolishes secretion. 1 Publication1
    Mutagenesisi362W → G: Reduces dimerization and enzyme activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi51816
    MalaCardsiADA2
    MIMi182410 phenotype
    615688 phenotype
    OpenTargetsiENSG00000093072
    Orphaneti820 Sneddon syndrome
    404553 Vasculitis due to ADA2 deficiency
    PharmGKBiPA26382

    Polymorphism and mutation databases

    DMDMi122065151

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Signal peptidei1 – 29Sequence analysisAdd BLAST29
    ChainiPRO_000000672530 – 511Adenosine deaminase 2Add BLAST482

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi127N-linked (GlcNAc...) asparagine1 Publication1
    Disulfide bondi137 ↔ 1591 Publication
    Glycosylationi174N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi185N-linked (GlcNAc...) asparagine1 Publication1
    Glycosylationi378N-linked (GlcNAc...) asparagine2 Publications1

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    EPDiQ9NZK5
    MaxQBiQ9NZK5
    PaxDbiQ9NZK5
    PeptideAtlasiQ9NZK5
    PRIDEiQ9NZK5
    ProteomicsDBi83424
    83425 [Q9NZK5-2]
    TopDownProteomicsiQ9NZK5-1 [Q9NZK5-1]

    PTM databases

    iPTMnetiQ9NZK5
    PhosphoSitePlusiQ9NZK5

    Expressioni

    Tissue specificityi

    Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord.1 Publication

    Gene expression databases

    BgeeiENSG00000093072 Expressed in 197 organ(s), highest expression level in leukocyte
    CleanExiHS_CECR1
    ExpressionAtlasiQ9NZK5 baseline and differential
    GenevisibleiQ9NZK5 HS

    Organism-specific databases

    HPAiHPA007888

    Interactioni

    Subunit structurei

    Homodimer. Interacts with adenosine receptors. Binds heparin.2 Publications

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi119736, 1 interactor
    STRINGi9606.ENSP00000262607

    Structurei

    Secondary structure

    1511
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ9NZK5
    SMRiQ9NZK5
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9NZK5

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni30 – 100DimerizationAdd BLAST71
    Regioni127 – 185PRB domainAdd BLAST59
    Regioni204 – 211Substrate binding8

    Domaini

    The PRB domain is involved in receptor binding, and may be responsible for the cytokine-like growth factor activity due to it's sharing of several structural properties with chemokines.1 Publication
    High-affinity binding to heparin/glycosaminoclycan (GAG) is mediated by a large, highly positively charged surface at the interface of dimer's subunits involving approximately residues 30-45, 389-396, and 422-428.1 Publication

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiKOG1097 Eukaryota
    COG1816 LUCA
    GeneTreeiENSGT00390000012118
    HOGENOMiHOG000044097
    HOVERGENiHBG050883
    InParanoidiQ9NZK5
    KOiK19572
    OMAiSMHFFQA
    OrthoDBiEOG091G0CQY
    PhylomeDBiQ9NZK5
    TreeFamiTF324524

    Family and domain databases

    InterProiView protein in InterPro
    IPR001365 A/AMP_deaminase_dom
    IPR013659 A_deaminase_N
    IPR006331 ADGF
    IPR032466 Metal_Hydrolase
    PfamiView protein in Pfam
    PF00962 A_deaminase, 1 hit
    PF08451 A_deaminase_N, 1 hit
    SUPFAMiSSF51556 SSF51556, 1 hit
    TIGRFAMsiTIGR01431 adm_rel, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9NZK5-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MLVDGPSERP ALCFLLLAVA MSFFGSALSI DETRAHLLLK EKMMRLGGRL
    60 70 80 90 100
    VLNTKEELAN ERLMTLKIAE MKEAMRTLIF PPSMHFFQAK HLIERSQVFN
    110 120 130 140 150
    ILRMMPKGAA LHLHDIGIVT MDWLVRNVTY RPHCHICFTP RGIMQFRFAH
    160 170 180 190 200
    PTPRPSEKCS KWILLEDYRK RVQNVTEFDD SLLRNFTLVT QHPEVIYTNQ
    210 220 230 240 250
    NVVWSKFETI FFTISGLIHY APVFRDYVFR SMQEFYEDNV LYMEIRARLL
    260 270 280 290 300
    PVYELSGEHH DEEWSVKTYQ EVAQKFVETH PEFIGIKIIY SDHRSKDVAV
    310 320 330 340 350
    IAESIRMAMG LRIKFPTVVA GFDLVGHEDT GHSLHDYKEA LMIPAKDGVK
    360 370 380 390 400
    LPYFFHAGET DWQGTSIDRN ILDALMLNTT RIGHGFALSK HPAVRTYSWK
    410 420 430 440 450
    KDIPIEVCPI SNQVLKLVSD LRNHPVATLM ATGHPMVISS DDPAMFGAKG
    460 470 480 490 500
    LSYDFYEVFM GIGGMKADLR TLKQLAMNSI KYSTLLESEK NTFMEIWKKR
    510
    WDKFIADVAT K
    Length:511
    Mass (Da):58,934
    Last modified:January 9, 2007 - v2
    Checksum:iA4AB0A83E8A0611E
    GO
    Isoform 2 (identifier: Q9NZK5-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-241: Missing.
         242-251: YMEIRARLLP → MDSLEWNWAL

    Show »
    Length:270
    Mass (Da):30,668
    Checksum:iC526359224344500
    GO

    Computationally mapped potential isoform sequencesi

    There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    B4E3Q4B4E3Q4_HUMAN
    Adenosine deaminase 2
    ADA2
    469Annotation score:
    A0A087X0I3A0A087X0I3_HUMAN
    Adenosine deaminase 2
    ADA2
    391Annotation score:
    C9IZA8C9IZA8_HUMAN
    Adenosine deaminase 2
    ADA2
    135Annotation score:
    F5H7J3F5H7J3_HUMAN
    Adenosine deaminase 2
    ADA2
    152Annotation score:

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti359E → G in BAC11148 (PubMed:14702039).Curated1
    Sequence conflicti394V → L in AAH51755 (PubMed:15489334).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07113747G → R in PAN; there is a decreased expression of the mutant protein compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs202134424Ensembl.1
    Natural variantiVAR_07113847G → V in PAN. 1 PublicationCorresponds to variant dbSNP:rs200930463EnsemblClinVar.1
    Natural variantiVAR_071139109A → D in PAN. 1 PublicationCorresponds to variant dbSNP:rs587777240EnsemblClinVar.1
    Natural variantiVAR_071140112H → Q in PAN. 1 PublicationCorresponds to variant dbSNP:rs587777241EnsemblClinVar.1
    Natural variantiVAR_072562119V → A in SNDDS. 1 Publication1
    Natural variantiVAR_072563142G → S in SNDDS. 1 Publication1
    Natural variantiVAR_071141169R → Q in PAN. 2 PublicationsCorresponds to variant dbSNP:rs77563738EnsemblClinVar.1
    Natural variantiVAR_071142251P → L in PAN. 1 PublicationCorresponds to variant dbSNP:rs148936893EnsemblClinVar.1
    Natural variantiVAR_071143264W → S in PAN. 1 PublicationCorresponds to variant dbSNP:rs587777242EnsemblClinVar.1
    Natural variantiVAR_029802335H → R2 PublicationsCorresponds to variant dbSNP:rs2231495Ensembl.1
    Natural variantiVAR_071144453Y → C in PAN. 1 PublicationCorresponds to variant dbSNP:rs376785840EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0415091 – 241Missing in isoform 2. 1 PublicationAdd BLAST241
    Alternative sequenceiVSP_041510242 – 251YMEIRARLLP → MDSLEWNWAL in isoform 2. 1 Publication10

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF190746 mRNA Translation: AAF65941.1
    CR456417 mRNA Translation: CAG30303.1
    AK027682 mRNA Translation: BAB55293.1
    AK292689 mRNA Translation: BAF85378.1
    AK074702 mRNA Translation: BAC11148.1
    AC005300 Genomic DNA No translation available.
    CH471193 Genomic DNA Translation: EAW57750.1
    BC051755 mRNA Translation: AAH51755.1
    CCDSiCCDS13742.1 [Q9NZK5-1]
    CCDS13743.1 [Q9NZK5-2]
    RefSeqiNP_001269154.1, NM_001282225.1 [Q9NZK5-1]
    NP_001269155.1, NM_001282226.1 [Q9NZK5-1]
    NP_001269156.1, NM_001282227.1
    NP_001269157.1, NM_001282228.1
    NP_001269158.1, NM_001282229.1
    NP_803124.1, NM_177405.2 [Q9NZK5-2]
    XP_011544435.1, XM_011546133.1 [Q9NZK5-1]
    UniGeneiHs.170310
    Hs.637274

    Genome annotation databases

    EnsembliENST00000262607; ENSP00000262607; ENSG00000093072 [Q9NZK5-1]
    ENST00000330232; ENSP00000332871; ENSG00000093072 [Q9NZK5-2]
    ENST00000399837; ENSP00000382731; ENSG00000093072 [Q9NZK5-1]
    ENST00000399839; ENSP00000382733; ENSG00000093072 [Q9NZK5-1]
    GeneIDi51816
    KEGGihsa:51816
    UCSCiuc002zmj.3 human [Q9NZK5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF190746 mRNA Translation: AAF65941.1
    CR456417 mRNA Translation: CAG30303.1
    AK027682 mRNA Translation: BAB55293.1
    AK292689 mRNA Translation: BAF85378.1
    AK074702 mRNA Translation: BAC11148.1
    AC005300 Genomic DNA No translation available.
    CH471193 Genomic DNA Translation: EAW57750.1
    BC051755 mRNA Translation: AAH51755.1
    CCDSiCCDS13742.1 [Q9NZK5-1]
    CCDS13743.1 [Q9NZK5-2]
    RefSeqiNP_001269154.1, NM_001282225.1 [Q9NZK5-1]
    NP_001269155.1, NM_001282226.1 [Q9NZK5-1]
    NP_001269156.1, NM_001282227.1
    NP_001269157.1, NM_001282228.1
    NP_001269158.1, NM_001282229.1
    NP_803124.1, NM_177405.2 [Q9NZK5-2]
    XP_011544435.1, XM_011546133.1 [Q9NZK5-1]
    UniGeneiHs.170310
    Hs.637274

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3LGDX-ray2.00A/B29-511[»]
    3LGGX-ray2.50A/B29-511[»]
    ProteinModelPortaliQ9NZK5
    SMRiQ9NZK5
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi119736, 1 interactor
    STRINGi9606.ENSP00000262607

    PTM databases

    iPTMnetiQ9NZK5
    PhosphoSitePlusiQ9NZK5

    Polymorphism and mutation databases

    DMDMi122065151

    Proteomic databases

    EPDiQ9NZK5
    MaxQBiQ9NZK5
    PaxDbiQ9NZK5
    PeptideAtlasiQ9NZK5
    PRIDEiQ9NZK5
    ProteomicsDBi83424
    83425 [Q9NZK5-2]
    TopDownProteomicsiQ9NZK5-1 [Q9NZK5-1]

    Protocols and materials databases

    DNASUi51816
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000262607; ENSP00000262607; ENSG00000093072 [Q9NZK5-1]
    ENST00000330232; ENSP00000332871; ENSG00000093072 [Q9NZK5-2]
    ENST00000399837; ENSP00000382731; ENSG00000093072 [Q9NZK5-1]
    ENST00000399839; ENSP00000382733; ENSG00000093072 [Q9NZK5-1]
    GeneIDi51816
    KEGGihsa:51816
    UCSCiuc002zmj.3 human [Q9NZK5-1]

    Organism-specific databases

    CTDi51816
    DisGeNETi51816
    EuPathDBiHostDB:ENSG00000093072.15
    GeneCardsiADA2
    HGNCiHGNC:1839 ADA2
    HPAiHPA007888
    MalaCardsiADA2
    MIMi182410 phenotype
    607575 gene
    615688 phenotype
    neXtProtiNX_Q9NZK5
    OpenTargetsiENSG00000093072
    Orphaneti820 Sneddon syndrome
    404553 Vasculitis due to ADA2 deficiency
    PharmGKBiPA26382
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1097 Eukaryota
    COG1816 LUCA
    GeneTreeiENSGT00390000012118
    HOGENOMiHOG000044097
    HOVERGENiHBG050883
    InParanoidiQ9NZK5
    KOiK19572
    OMAiSMHFFQA
    OrthoDBiEOG091G0CQY
    PhylomeDBiQ9NZK5
    TreeFamiTF324524

    Enzyme and pathway databases

    BRENDAi3.5.4.4 2681
    ReactomeiR-HSA-5683826 Surfactant metabolism
    R-HSA-6798695 Neutrophil degranulation

    Miscellaneous databases

    ChiTaRSiCECR1 human
    EvolutionaryTraceiQ9NZK5
    GeneWikiiCECR1
    GenomeRNAii51816
    PROiPR:Q9NZK5
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000093072 Expressed in 197 organ(s), highest expression level in leukocyte
    CleanExiHS_CECR1
    ExpressionAtlasiQ9NZK5 baseline and differential
    GenevisibleiQ9NZK5 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR001365 A/AMP_deaminase_dom
    IPR013659 A_deaminase_N
    IPR006331 ADGF
    IPR032466 Metal_Hydrolase
    PfamiView protein in Pfam
    PF00962 A_deaminase, 1 hit
    PF08451 A_deaminase_N, 1 hit
    SUPFAMiSSF51556 SSF51556, 1 hit
    TIGRFAMsiTIGR01431 adm_rel, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiADA2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZK5
    Secondary accession number(s): A8K9H4
    , Q6ICF1, Q86UB6, Q8NCJ2, Q96K41
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
    Last sequence update: January 9, 2007
    Last modified: November 7, 2018
    This is version 145 of the entry and version 2 of the sequence. See complete history.
    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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. SIMILARITY comments
      Index of protein domains and families
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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