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Protein

Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A

Gene

PDE11A

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

Functioni

Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively.3 Publications

Catalytic activityi

Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.
Adenosine 3',5'-cyclic phosphate + H2O = adenosine 5'-phosphate.

Cofactori

a divalent metal cationBy similarityNote: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.By similarity

Activity regulationi

Inhibited by 3-isobutyl-1-methylxanthine (IBMX), zaprinast and dipyridamole. cGMP acts as an allosteric activator. Weakly inhibited by Sildenafil (Viagra) and Tadalafil (Cialis); however, the fact that the protein is probably absent from testis, suggests that it is not biologically relevant and is not related with erectile dysfunction.4 Publications

Kineticsi

  1. KM=3.0 µM for cAMP (isoform 1)3 Publications
  2. KM=1.4 µM for cGMP (isoform 1)3 Publications
  3. KM=3.0 µM for cAMP (isoform 2)3 Publications
  4. KM=1.5 µM for cGMP (isoform 2)3 Publications
  5. KM=3.3 µM for cAMP (isoform 3)3 Publications
  6. KM=3.7 µM for cGMP (isoform 3)3 Publications
  7. KM=1.04 µM for cAMP (isoform 4)3 Publications
  8. KM=0.52 µM for cGMP (isoform 4)3 Publications
  1. Vmax=3.6 pmol/min/µg enzyme with cAMP as substrate (isoform 4)3 Publications
  2. Vmax=3.9 pmol/min/µg enzyme with cGMP as substrate (isoform 4)3 Publications
  3. Vmax=270 pmol/min/µg enzyme with cAMP as substrate (isoform 1)3 Publications
  4. Vmax=120 pmol/min/µg enzyme with cGMP as substrate (isoform 1)3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei664Proton donorBy similarity1
Metal bindingi668Divalent metal cation 1PROSITE-ProRule annotation1
Metal bindingi704Divalent metal cation 1PROSITE-ProRule annotation1
Metal bindingi705Divalent metal cation 1PROSITE-ProRule annotation1
Metal bindingi705Divalent metal cation 2PROSITE-ProRule annotation1
Metal bindingi816Divalent metal cation 1PROSITE-ProRule annotation1
Binding sitei869cAMP or cGMPBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAllosteric enzyme, Hydrolase
LigandcAMP, cGMP, Metal-binding

Enzyme and pathway databases

BRENDAi3.1.4.17 2681
ReactomeiR-HSA-418457 cGMP effects
R-HSA-418555 G alpha (s) signalling events

Names & Taxonomyi

Protein namesi
Recommended name:
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (EC:3.1.4.35, EC:3.1.4.53)
Alternative name(s):
cAMP and cGMP phosphodiesterase 11A
Gene namesi
Name:PDE11A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000128655.16
HGNCiHGNC:8773 PDE11A
MIMi604961 gene
neXtProtiNX_Q9HCR9

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

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Primary pigmented nodular adrenocortical disease 2 (PPNAD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
See also OMIM:610475

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi355D → A: Induces a decrease in enzyme activity due to the inability of cGMP to bind and stimulate enzyme activity. 1 Publication1

Keywords - Diseasei

Cushing syndrome

Organism-specific databases

DisGeNETi50940
MalaCardsiPDE11A
MIMi610475 phenotype
OpenTargetsiENSG00000128655
Orphaneti189439 Primary pigmented nodular adrenocortical disease
PharmGKBiPA33121

Chemistry databases

ChEMBLiCHEMBL2717
DrugBankiDB00201 Caffeine
DB00820 Tadalafil
GuidetoPHARMACOLOGYi1311

Polymorphism and mutation databases

BioMutaiPDE11A
DMDMi296439264

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002470401 – 933Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11AAdd BLAST933

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162PhosphoserineBy similarity1
Modified residuei163PhosphoserineBy similarity1
Modified residuei239PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HCR9
PaxDbiQ9HCR9
PeptideAtlasiQ9HCR9
PRIDEiQ9HCR9
ProteomicsDBi81789
81790 [Q9HCR9-2]
81791 [Q9HCR9-3]
81792 [Q9HCR9-4]

PTM databases

iPTMnetiQ9HCR9
PhosphoSitePlusiQ9HCR9

Expressioni

Tissue specificityi

Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex.5 Publications

Gene expression databases

BgeeiENSG00000128655 Expressed in 118 organ(s), highest expression level in vastus lateralis
CleanExiHS_PDE11A
ExpressionAtlasiQ9HCR9 baseline and differential
GenevisibleiQ9HCR9 HS

Organism-specific databases

HPAiHPA034560

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000286063

Chemistry databases

BindingDBiQ9HCR9

Structurei

3D structure databases

ProteinModelPortaliQ9HCR9
SMRiQ9HCR9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini217 – 370GAF 1Add BLAST154
Domaini402 – 558GAF 2Add BLAST157
Domaini588 – 912PDEasePROSITE-ProRule annotationAdd BLAST325

Domaini

The tandem GAF domains bind cGMP, and regulate enzyme activity. The binding of cGMP stimulates enzyme activity.1 Publication

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3689 Eukaryota
ENOG410XRI7 LUCA
GeneTreeiENSGT00760000119066
HOVERGENiHBG101207
KOiK13298
OMAiKNHRDVF
OrthoDBiEOG091G04JU
PhylomeDBiQ9HCR9
TreeFamiTF316499

Family and domain databases

CDDicd00077 HDc, 1 hit
Gene3Di1.10.1300.10, 1 hit
3.30.450.40, 2 hits
InterProiView protein in InterPro
IPR003018 GAF
IPR029016 GAF-like_dom_sf
IPR003607 HD/PDEase_dom
IPR023088 PDEase
IPR002073 PDEase_catalytic_dom
IPR036971 PDEase_catalytic_dom_sf
IPR023174 PDEase_CS
PfamiView protein in Pfam
PF01590 GAF, 2 hits
PF00233 PDEase_I, 1 hit
PRINTSiPR00387 PDIESTERASE1
SMARTiView protein in SMART
SM00065 GAF, 2 hits
SM00471 HDc, 1 hit
PROSITEiView protein in PROSITE
PS00126 PDEASE_I_1, 1 hit
PS51845 PDEASE_I_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HCR9-1) [UniParc]FASTAAdd to basket
Also known as: PDE11A4

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
MAASRLDFGE VETFLDRHPE LFEDYLMRKG KQEMVEKWLQ RHSQGQGALG
60 70 80 90 100
PRPSLAGTSS LAHSTCRGGS SVGGGTGPNG SAHSQPLPGG GDCGGVPLSP
110 120 130 140 150
SWAGGSRGDG NLQRRASQKE LRKSFARSKA IHVNRTYDEQ VTSRAQEPLS
160 170 180 190 200
SVRRRALLRK ASSLPPTTAH ILSALLESRV NLPRYPPTAI DYKCHLKKHN
210 220 230 240 250
ERQFFLELVK DISNDLDLTS LSYKILIFVC LMVDADRCSL FLVEGAAAGK
260 270 280 290 300
KTLVSKFFDV HAGTPLLPCS STENSNEVQV PWGKGIIGYV GEHGETVNIP
310 320 330 340 350
DAYQDRRFND EIDKLTGYKT KSLLCMPIRS SDGEIIGVAQ AINKIPEGAP
360 370 380 390 400
FTEDDEKVMQ MYLPFCGIAI SNAQLFAASR KEYERSRALL EVVNDLFEEQ
410 420 430 440 450
TDLEKIVKKI MHRAQTLLKC ERCSVLLLED IESPVVKFTK SFELMSPKCS
460 470 480 490 500
ADAENSFKES MEKSSYSDWL INNSIAELVA STGLPVNISD AYQDPRFDAE
510 520 530 540 550
ADQISGFHIR SVLCVPIWNS NHQIIGVAQV LNRLDGKPFD DADQRLFEAF
560 570 580 590 600
VIFCGLGINN TIMYDQVKKS WAKQSVALDV LSYHATCSKA EVDKFKAANI
610 620 630 640 650
PLVSELAIDD IHFDDFSLDV DAMITAALRM FMELGMVQKF KIDYETLCRW
660 670 680 690 700
LLTVRKNYRM VLYHNWRHAF NVCQLMFAML TTAGFQDILT EVEILAVIVG
710 720 730 740 750
CLCHDLDHRG TNNAFQAKSG SALAQLYGTS ATLEHHHFNH AVMILQSEGH
760 770 780 790 800
NIFANLSSKE YSDLMQLLKQ SILATDLTLY FERRTEFFEL VSKGEYDWNI
810 820 830 840 850
KNHRDIFRSM LMTACDLGAV TKPWEISRQV AELVTSEFFE QGDRERLELK
860 870 880 890 900
LTPSAIFDRN RKDELPRLQL EWIDSICMPL YQALVKVNVK LKPMLDSVAT
910 920 930
NRSKWEELHQ KRLLASTASS SPASVMVAKE DRN
Length:933
Mass (Da):104,752
Last modified:May 18, 2010 - v2
Checksum:iB725AE6963D6E799
GO
Isoform 2 (identifier: Q9HCR9-2) [UniParc]FASTAAdd to basket
Also known as: PDE11A3

The sequence of this isoform differs from the canonical sequence as follows:
     1-250: Missing.
     251-304: KTLVSKFFDV...ETVNIPDAYQ → MLKQARRPLF...FLIQRQTKTK

Show »
Length:683
Mass (Da):78,047
Checksum:i82DD9BB77C941A1C
GO
Isoform 3 (identifier: Q9HCR9-3) [UniParc]FASTAAdd to basket
Also known as: PDE11A2

The sequence of this isoform differs from the canonical sequence as follows:
     1-358: Missing.

Show »
Length:575
Mass (Da):65,679
Checksum:iA1DDA7F4BAF43221
GO
Isoform 4 (identifier: Q9HCR9-4) [UniParc]FASTAAdd to basket
Also known as: PDE11A1

The sequence of this isoform differs from the canonical sequence as follows:
     1-444: Missing.

Show »
Length:489
Mass (Da):55,700
Checksum:i3E6ED2AAE9CBF03C
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C4D0H7C4D0_HUMAN
Phosphodiesterase
PDE11A
437Annotation score:
H0Y6P9H0Y6P9_HUMAN
Dual 3',5'-cyclic-AMP and -GMP phos...
PDE11A
136Annotation score:
F8WDQ4F8WDQ4_HUMAN
Dual 3',5'-cyclic-AMP and -GMP phos...
PDE11A
36Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti184R → Q in BAB16371 (PubMed:10906126).Curated1
Sequence conflicti184R → Q in BAB62712 (PubMed:11121118).Curated1
Sequence conflicti184R → Q in AAI12394 (PubMed:15489334).Curated1
Sequence conflicti184R → Q in AAI14432 (PubMed:15489334).Curated1
Sequence conflicti921S → SS in BAB16371 (PubMed:10906126).Curated1
Sequence conflicti921S → SS in BAB16372 (PubMed:10906126).Curated1
Sequence conflicti921S → SS in CAB82573 (PubMed:10725373).Curated1
Sequence conflicti921S → SS in AAG32023 (PubMed:11050148).Curated1
Sequence conflicti921S → SS in CAC15567 (PubMed:11050148).Curated1
Sequence conflicti921S → SS in BAB62712 (PubMed:11121118).Curated1
Sequence conflicti921S → SS in BAB62713 (PubMed:11121118).Curated1
Sequence conflicti921S → SS in BAB62714 (PubMed:11121118).Curated1
Sequence conflicti921S → SS in AAI12394 (PubMed:15489334).Curated1
Sequence conflicti921S → SS in AAI14432 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027056804R → H1 PublicationCorresponds to variant dbSNP:rs75127279Ensembl.1
Natural variantiVAR_027057867R → G1 PublicationCorresponds to variant dbSNP:rs61306957Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0198981 – 444Missing in isoform 4. 1 PublicationAdd BLAST444
Alternative sequenceiVSP_0198991 – 358Missing in isoform 3. 1 PublicationAdd BLAST358
Alternative sequenceiVSP_0199001 – 250Missing in isoform 2. 2 PublicationsAdd BLAST250
Alternative sequenceiVSP_019901251 – 304KTLVS…PDAYQ → MLKQARRPLFRNVLSATQWK KVKITRLVQISGASLAEKQE KHQDFLIQRQTKTK in isoform 2. 2 PublicationsAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB036704 mRNA Translation: BAB16371.1
AB038041 mRNA Translation: BAB16372.1
AJ251509 mRNA Translation: CAB82573.1
AF281865 mRNA Translation: AAG32023.1
AJ278682 mRNA Translation: CAC15567.1
AB048423 Genomic DNA Translation: BAB62712.1
AB048423 Genomic DNA Translation: BAB62713.2
AB048423 Genomic DNA Translation: BAB62714.1
AC073834 Genomic DNA No translation available.
AC073892 Genomic DNA No translation available.
AC083824 Genomic DNA No translation available.
AC011998 Genomic DNA No translation available.
AC012499 Genomic DNA Translation: AAY14803.1
BC112393 mRNA Translation: AAI12394.1
BC114431 mRNA Translation: AAI14432.1
CCDSiCCDS33334.1 [Q9HCR9-1]
CCDS42785.1 [Q9HCR9-2]
CCDS42786.1 [Q9HCR9-4]
CCDS46459.1 [Q9HCR9-3]
RefSeqiNP_001070664.1, NM_001077196.1 [Q9HCR9-4]
NP_001070665.1, NM_001077197.1 [Q9HCR9-2]
NP_001070826.1, NM_001077358.1 [Q9HCR9-3]
NP_058649.3, NM_016953.3 [Q9HCR9-1]
UniGeneiHs.570273

Genome annotation databases

EnsembliENST00000286063; ENSP00000286063; ENSG00000128655 [Q9HCR9-1]
ENST00000389683; ENSP00000374333; ENSG00000128655 [Q9HCR9-4]
ENST00000409504; ENSP00000386539; ENSG00000128655 [Q9HCR9-3]
GeneIDi50940
KEGGihsa:50940
UCSCiuc002ulp.4 human [Q9HCR9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB036704 mRNA Translation: BAB16371.1
AB038041 mRNA Translation: BAB16372.1
AJ251509 mRNA Translation: CAB82573.1
AF281865 mRNA Translation: AAG32023.1
AJ278682 mRNA Translation: CAC15567.1
AB048423 Genomic DNA Translation: BAB62712.1
AB048423 Genomic DNA Translation: BAB62713.2
AB048423 Genomic DNA Translation: BAB62714.1
AC073834 Genomic DNA No translation available.
AC073892 Genomic DNA No translation available.
AC083824 Genomic DNA No translation available.
AC011998 Genomic DNA No translation available.
AC012499 Genomic DNA Translation: AAY14803.1
BC112393 mRNA Translation: AAI12394.1
BC114431 mRNA Translation: AAI14432.1
CCDSiCCDS33334.1 [Q9HCR9-1]
CCDS42785.1 [Q9HCR9-2]
CCDS42786.1 [Q9HCR9-4]
CCDS46459.1 [Q9HCR9-3]
RefSeqiNP_001070664.1, NM_001077196.1 [Q9HCR9-4]
NP_001070665.1, NM_001077197.1 [Q9HCR9-2]
NP_001070826.1, NM_001077358.1 [Q9HCR9-3]
NP_058649.3, NM_016953.3 [Q9HCR9-1]
UniGeneiHs.570273

3D structure databases

ProteinModelPortaliQ9HCR9
SMRiQ9HCR9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000286063

Chemistry databases

BindingDBiQ9HCR9
ChEMBLiCHEMBL2717
DrugBankiDB00201 Caffeine
DB00820 Tadalafil
GuidetoPHARMACOLOGYi1311

PTM databases

iPTMnetiQ9HCR9
PhosphoSitePlusiQ9HCR9

Polymorphism and mutation databases

BioMutaiPDE11A
DMDMi296439264

Proteomic databases

EPDiQ9HCR9
PaxDbiQ9HCR9
PeptideAtlasiQ9HCR9
PRIDEiQ9HCR9
ProteomicsDBi81789
81790 [Q9HCR9-2]
81791 [Q9HCR9-3]
81792 [Q9HCR9-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000286063; ENSP00000286063; ENSG00000128655 [Q9HCR9-1]
ENST00000389683; ENSP00000374333; ENSG00000128655 [Q9HCR9-4]
ENST00000409504; ENSP00000386539; ENSG00000128655 [Q9HCR9-3]
GeneIDi50940
KEGGihsa:50940
UCSCiuc002ulp.4 human [Q9HCR9-1]

Organism-specific databases

CTDi50940
DisGeNETi50940
EuPathDBiHostDB:ENSG00000128655.16
GeneCardsiPDE11A
HGNCiHGNC:8773 PDE11A
HPAiHPA034560
MalaCardsiPDE11A
MIMi604961 gene
610475 phenotype
neXtProtiNX_Q9HCR9
OpenTargetsiENSG00000128655
Orphaneti189439 Primary pigmented nodular adrenocortical disease
PharmGKBiPA33121
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3689 Eukaryota
ENOG410XRI7 LUCA
GeneTreeiENSGT00760000119066
HOVERGENiHBG101207
KOiK13298
OMAiKNHRDVF
OrthoDBiEOG091G04JU
PhylomeDBiQ9HCR9
TreeFamiTF316499

Enzyme and pathway databases

BRENDAi3.1.4.17 2681
ReactomeiR-HSA-418457 cGMP effects
R-HSA-418555 G alpha (s) signalling events

Miscellaneous databases

ChiTaRSiPDE11A human
GeneWikiiPDE11A
GenomeRNAii50940
PROiPR:Q9HCR9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128655 Expressed in 118 organ(s), highest expression level in vastus lateralis
CleanExiHS_PDE11A
ExpressionAtlasiQ9HCR9 baseline and differential
GenevisibleiQ9HCR9 HS

Family and domain databases

CDDicd00077 HDc, 1 hit
Gene3Di1.10.1300.10, 1 hit
3.30.450.40, 2 hits
InterProiView protein in InterPro
IPR003018 GAF
IPR029016 GAF-like_dom_sf
IPR003607 HD/PDEase_dom
IPR023088 PDEase
IPR002073 PDEase_catalytic_dom
IPR036971 PDEase_catalytic_dom_sf
IPR023174 PDEase_CS
PfamiView protein in Pfam
PF01590 GAF, 2 hits
PF00233 PDEase_I, 1 hit
PRINTSiPR00387 PDIESTERASE1
SMARTiView protein in SMART
SM00065 GAF, 2 hits
SM00471 HDc, 1 hit
PROSITEiView protein in PROSITE
PS00126 PDEASE_I_1, 1 hit
PS51845 PDEASE_I_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPDE11_HUMAN
AccessioniPrimary (citable) accession number: Q9HCR9
Secondary accession number(s): Q14CD1
, Q53T16, Q96S76, Q9GZY7, Q9HB46, Q9NY45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 132 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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