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Protein

Adenylate cyclase type 5

Gene

ADCY5

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

Functioni

Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca2+ in response to increased blood glucose levels and contributes to the regulation of Ca2+-dependent insulin secretion (PubMed:24740569).4 Publications

Catalytic activityi

ATP = 3',5'-cyclic AMP + diphosphate.3 Publications

Cofactori

Mg2+1 Publication, Mn2+1 PublicationNote: Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro).By similarity

Activity regulationi

Activated by forskolin (PubMed:24700542). Activated by GNAS. Activity is further increased by interaction with the G-protein beta and gamma subunit complex formed by GNB1 and GNG2 (PubMed:26206488). Is not activated by calmodulin. Inhibited by adenosine and ATP analogs. Inhibited by calcium ions, already at micromolar concentrations (By similarity). Phosphorylation by RAF1 results in its activation (PubMed:15385642).By similarity2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi474Magnesium 1; catalyticPROSITE-ProRule annotation1
Metal bindingi474Magnesium 2; catalyticPROSITE-ProRule annotation1
Metal bindingi475Magnesium 2; via carbonyl oxygen; catalyticPROSITE-ProRule annotation1
Metal bindingi518Magnesium 1; catalyticPROSITE-ProRule annotation1
Metal bindingi518Magnesium 2; catalyticPROSITE-ProRule annotation1
Binding sitei562ATPBy similarity1
Binding sitei1123ATPBy similarity1
Binding sitei1244ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi474 – 479ATPBy similarity6
Nucleotide bindingi516 – 518ATPBy similarity3
Nucleotide bindingi1197 – 1199ATPBy similarity3
Nucleotide bindingi1204 – 1208ATPBy similarity5

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionLyase
Biological processcAMP biosynthesis
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi4.6.1.1 2681
ReactomeiR-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-163615 PKA activation
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-170660 Adenylate cyclase activating pathway
R-HSA-170670 Adenylate cyclase inhibitory pathway
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787 Hedgehog 'off' state
SIGNORiO95622

Names & Taxonomyi

Protein namesi
Recommended name:
Adenylate cyclase type 5 (EC:4.6.1.13 Publications)
Alternative name(s):
ATP pyrophosphate-lyase 5
Adenylate cyclase type V
Adenylyl cyclase 5
Short name:
AC51 Publication
Gene namesi
Name:ADCY5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000173175.14
HGNCiHGNC:236 ADCY5
MIMi600293 gene
neXtProtiNX_O95622

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 195CytoplasmicSequence analysisAdd BLAST195
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Transmembranei242 – 262HelicalSequence analysisAdd BLAST21
Transmembranei268 – 288HelicalSequence analysisAdd BLAST21
Transmembranei299 – 319HelicalSequence analysisAdd BLAST21
Transmembranei325 – 345HelicalSequence analysisAdd BLAST21
Transmembranei374 – 394HelicalSequence analysisAdd BLAST21
Topological domaini395 – 769CytoplasmicSequence analysisAdd BLAST375
Transmembranei770 – 790HelicalSequence analysisAdd BLAST21
Transmembranei792 – 812HelicalSequence analysisAdd BLAST21
Transmembranei836 – 856HelicalSequence analysisAdd BLAST21
Topological domaini857 – 909ExtracellularSequence analysisAdd BLAST53
Transmembranei910 – 930HelicalSequence analysisAdd BLAST21
Transmembranei935 – 955HelicalSequence analysisAdd BLAST21
Transmembranei984 – 1004HelicalSequence analysisAdd BLAST21
Topological domaini1005 – 1261CytoplasmicSequence analysisAdd BLAST257

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

Dyskinesia, familial, with facial myokymia (FDFM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages.
See also OMIM:606703
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073778418R → W in FDFM; increases cAMP production upon activation of ADRB1. 1 PublicationCorresponds to variant dbSNP:rs864309483EnsemblClinVar.1
Natural variantiVAR_068821726A → T in FDFM; increases cAMP production upon activation of ADRB1. 2 PublicationsCorresponds to variant dbSNP:rs796065306EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi111
MalaCardsiADCY5
MIMi606703 phenotype
OpenTargetsiENSG00000173175
Orphaneti1429 Benign hereditary chorea
324588 Familial dyskinesia and facial myokymia
PharmGKBiPA24563

Chemistry databases

ChEMBLiCHEMBL3189
DrugBankiDB02587 Colforsin
GuidetoPHARMACOLOGYi1282

Polymorphism and mutation databases

BioMutaiADCY5

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001956941 – 1261Adenylate cyclase type 5Add BLAST1261

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei23Omega-N-methylarginineBy similarity1
Modified residuei96PhosphoserineBy similarity1
Modified residuei155PhosphoserineBy similarity1
Modified residuei666PhosphoserineBy similarity1
Modified residuei754PhosphoserineBy similarity1
Glycosylationi870N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi887N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1011PhosphothreonineBy similarity1

Post-translational modificationi

Phosphorylated by RAF1.1 Publication

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

EPDiO95622
MaxQBiO95622
PaxDbiO95622
PeptideAtlasiO95622
PRIDEiO95622
ProteomicsDBi50954
50955 [O95622-2]

PTM databases

iPTMnetiO95622
PhosphoSitePlusiO95622

Expressioni

Tissue specificityi

Detected in pancreas islets (at protein level). Detected in pancreas islets.1 Publication

Gene expression databases

BgeeiENSG00000173175 Expressed in 139 organ(s), highest expression level in lower esophagus
CleanExiHS_ADCY5
ExpressionAtlasiO95622 baseline and differential
GenevisibleiO95622 HS

Organism-specific databases

HPAiHPA017730
HPA077682

Interactioni

Subunit structurei

Interacts with GNAS, GNB1 and GNG2 (PubMed:26206488). Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1 (PubMed:15385642).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106624, 14 interactors
STRINGi9606.ENSP00000419361

Chemistry databases

BindingDBiO95622

Structurei

3D structure databases

ProteinModelPortaliO95622
SMRiO95622
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini469 – 596Guanylate cyclase 1PROSITE-ProRule annotationAdd BLAST128
Domaini1071 – 1210Guanylate cyclase 2PROSITE-ProRule annotationAdd BLAST140

Domaini

The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.By similarity

Sequence similaritiesi

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3619 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00760000119042
HOGENOMiHOG000006941
HOVERGENiHBG050458
InParanoidiO95622
KOiK08045
OMAiVMAVLCN
OrthoDBiEOG091G05JR
PhylomeDBiO95622
TreeFamiTF313845

Family and domain databases

Gene3Di3.30.70.1230, 2 hits
InterProiView protein in InterPro
IPR001054 A/G_cyclase
IPR018297 A/G_cyclase_CS
IPR032628 AC_N
IPR030672 Adcy
IPR009398 Adcy_conserved_dom
IPR029787 Nucleotide_cyclase
PfamiView protein in Pfam
PF16214 AC_N, 1 hit
PF06327 DUF1053, 1 hit
PF00211 Guanylate_cyc, 2 hits
PIRSFiPIRSF039050 Ade_cyc, 1 hit
SMARTiView protein in SMART
SM00044 CYCc, 2 hits
SUPFAMiSSF55073 SSF55073, 2 hits
PROSITEiView protein in PROSITE
PS00452 GUANYLATE_CYCLASE_1, 2 hits
PS50125 GUANYLATE_CYCLASE_2, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

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: O95622-1) [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
MSGSKSVSPP GYAAQKTAAP APRGGPEHRS AWGEADSRAN GYPHAPGGSA
60 70 80 90 100
RGSTKKPGGA VTPQQQQRLA SRWRSDDDDD PPLSGDDPLA GGFGFSFRSK
110 120 130 140 150
SAWQERGGDD CGRGSRRQRR GAASGGSTRA PPAGGGGGSA AAAASAGGTE
160 170 180 190 200
VRPRSVEVGL EERRGKGRAA DELEAGAVEG GEGSGDGGSS ADSGSGAGPG
210 220 230 240 250
AVLSLGACCL ALLQIFRSKK FPSDKLERLY QRYFFRLNQS SLTMLMAVLV
260 270 280 290 300
LVCLVMLAFH AARPPLQLPY LAVLAAAVGV ILIMAVLCNR AAFHQDHMGL
310 320 330 340 350
ACYALIAVVL AVQVVGLLLP QPRSASEGIW WTVFFIYTIY TLLPVRMRAA
360 370 380 390 400
VLSGVLLSAL HLAIALRTNA QDQFLLKQLV SNVLIFSCTN IVGVCTHYPA
410 420 430 440 450
EVSQRQAFQE TRECIQARLH SQRENQQQER LLLSVLPRHV AMEMKADINA
460 470 480 490 500
KQEDMMFHKI YIQKHDNVSI LFADIEGFTS LASQCTAQEL VMTLNELFAR
510 520 530 540 550
FDKLAAENHC LRIKILGDCY YCVSGLPEAR ADHAHCCVEM GMDMIEAISL
560 570 580 590 600
VREVTGVNVN MRVGIHSGRV HCGVLGLRKW QFDVWSNDVT LANHMEAGGK
610 620 630 640 650
AGRIHITKAT LNYLNGDYEV EPGCGGERNA YLKEHSIETF LILRCTQKRK
660 670 680 690 700
EEKAMIAKMN RQRTNSIGHN PPHWGAERPF YNHLGGNQVS KEMKRMGFED
710 720 730 740 750
PKDKNAQESA NPEDEVDEFL GRAIDARSID RLRSEHVRKF LLTFREPDLE
760 770 780 790 800
KKYSKQVDDR FGAYVACASL VFLFICFVQI TIVPHSIFML SFYLTCSLLL
810 820 830 840 850
TLVVFVSVIY SCVKLFPSPL QTLSRKIVRS KMNSTLVGVF TITLVFLAAF
860 870 880 890 900
VNMFTCNSRD LLGCLAQEHN ISASQVNACH VAESAVNYSL GDEQGFCGSP
910 920 930 940 950
WPNCNFPEYF TYSVLLSLLA CSVFLQISCI GKLVLMLAIE LIYVLIVEVP
960 970 980 990 1000
GVTLFDNADL LVTANAIDFF NNGTSQCPEH ATKVALKVVT PIIISVFVLA
1010 1020 1030 1040 1050
LYLHAQQVES TARLDFLWKL QATEEKEEME ELQAYNRRLL HNILPKDVAA
1060 1070 1080 1090 1100
HFLARERRND ELYYQSCECV AVMFASIANF SEFYVELEAN NEGVECLRLL
1110 1120 1130 1140 1150
NEIIADFDEI ISEDRFRQLE KIKTIGSTYM AASGLNDSTY DKVGKTHIKA
1160 1170 1180 1190 1200
LADFAMKLMD QMKYINEHSF NNFQMKIGLN IGPVVAGVIG ARKPQYDIWG
1210 1220 1230 1240 1250
NTVNVASRMD STGVPDRIQV TTDMYQVLAA NTYQLECRGV VKVKGKGEMM
1260
TYFLNGGPPL S
Length:1,261
Mass (Da):138,908
Last modified:November 28, 2006 - v3
Checksum:iC50492A0B053694F
GO
Isoform 2 (identifier: O95622-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: MSGSKSVSPPGYAAQKTAAPAPRGGPEH → MKSQKEGCCSRGDLSIQTGPGGEWAPRR
     29-378: Missing.

Note: No experimental confirmation available.
Show »
Length:911
Mass (Da):102,606
Checksum:iCA9E766B744A6222
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KWA8B3KWA8_HUMAN
Adenylate cyclase type 5
ADCY5
919Annotation score:
C9JRT8C9JRT8_HUMAN
Adenylate cyclase type 5
ADCY5
492Annotation score:
C9JQ38C9JQ38_HUMAN
Adenylate cyclase type 5
ADCY5
90Annotation score:
F8WBM0F8WBM0_HUMAN
Adenylate cyclase type 5
ADCY5
78Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073778418R → W in FDFM; increases cAMP production upon activation of ADRB1. 1 PublicationCorresponds to variant dbSNP:rs864309483EnsemblClinVar.1
Natural variantiVAR_068821726A → T in FDFM; increases cAMP production upon activation of ADRB1. 2 PublicationsCorresponds to variant dbSNP:rs796065306EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0429141 – 28MSGSK…GGPEH → MKSQKEGCCSRGDLSIQTGP GGEWAPRR in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_04291529 – 378Missing in isoform 2. 1 PublicationAdd BLAST350

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303070 mRNA Translation: BAH13892.1
AC025571 Genomic DNA No translation available.
AC112503 Genomic DNA No translation available.
AF497517 mRNA Translation: AAM94374.1
U65473 mRNA Translation: AAD00121.1
BK000371 mRNA Translation: DAA00057.1
CCDSiCCDS3022.1 [O95622-1]
CCDS56274.1 [O95622-2]
RefSeqiNP_001186571.1, NM_001199642.1 [O95622-2]
NP_899200.1, NM_183357.2 [O95622-1]
UniGeneiHs.593292

Genome annotation databases

EnsembliENST00000309879; ENSP00000308685; ENSG00000173175 [O95622-2]
ENST00000462833; ENSP00000419361; ENSG00000173175 [O95622-1]
GeneIDi111
KEGGihsa:111
UCSCiuc003egh.3 human [O95622-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303070 mRNA Translation: BAH13892.1
AC025571 Genomic DNA No translation available.
AC112503 Genomic DNA No translation available.
AF497517 mRNA Translation: AAM94374.1
U65473 mRNA Translation: AAD00121.1
BK000371 mRNA Translation: DAA00057.1
CCDSiCCDS3022.1 [O95622-1]
CCDS56274.1 [O95622-2]
RefSeqiNP_001186571.1, NM_001199642.1 [O95622-2]
NP_899200.1, NM_183357.2 [O95622-1]
UniGeneiHs.593292

3D structure databases

ProteinModelPortaliO95622
SMRiO95622
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106624, 14 interactors
STRINGi9606.ENSP00000419361

Chemistry databases

BindingDBiO95622
ChEMBLiCHEMBL3189
DrugBankiDB02587 Colforsin
GuidetoPHARMACOLOGYi1282

PTM databases

iPTMnetiO95622
PhosphoSitePlusiO95622

Polymorphism and mutation databases

BioMutaiADCY5

Proteomic databases

EPDiO95622
MaxQBiO95622
PaxDbiO95622
PeptideAtlasiO95622
PRIDEiO95622
ProteomicsDBi50954
50955 [O95622-2]

Protocols and materials databases

DNASUi111
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000309879; ENSP00000308685; ENSG00000173175 [O95622-2]
ENST00000462833; ENSP00000419361; ENSG00000173175 [O95622-1]
GeneIDi111
KEGGihsa:111
UCSCiuc003egh.3 human [O95622-1]

Organism-specific databases

CTDi111
DisGeNETi111
EuPathDBiHostDB:ENSG00000173175.14
GeneCardsiADCY5
H-InvDBiHIX0003612
HGNCiHGNC:236 ADCY5
HPAiHPA017730
HPA077682
MalaCardsiADCY5
MIMi600293 gene
606703 phenotype
neXtProtiNX_O95622
OpenTargetsiENSG00000173175
Orphaneti1429 Benign hereditary chorea
324588 Familial dyskinesia and facial myokymia
PharmGKBiPA24563
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3619 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00760000119042
HOGENOMiHOG000006941
HOVERGENiHBG050458
InParanoidiO95622
KOiK08045
OMAiVMAVLCN
OrthoDBiEOG091G05JR
PhylomeDBiO95622
TreeFamiTF313845

Enzyme and pathway databases

BRENDAi4.6.1.1 2681
ReactomeiR-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-163615 PKA activation
R-HSA-164378 PKA activation in glucagon signalling
R-HSA-170660 Adenylate cyclase activating pathway
R-HSA-170670 Adenylate cyclase inhibitory pathway
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-418555 G alpha (s) signalling events
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787 Hedgehog 'off' state
SIGNORiO95622

Miscellaneous databases

ChiTaRSiADCY5 human
GeneWikiiADCY5
GenomeRNAii111
PROiPR:O95622
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173175 Expressed in 139 organ(s), highest expression level in lower esophagus
CleanExiHS_ADCY5
ExpressionAtlasiO95622 baseline and differential
GenevisibleiO95622 HS

Family and domain databases

Gene3Di3.30.70.1230, 2 hits
InterProiView protein in InterPro
IPR001054 A/G_cyclase
IPR018297 A/G_cyclase_CS
IPR032628 AC_N
IPR030672 Adcy
IPR009398 Adcy_conserved_dom
IPR029787 Nucleotide_cyclase
PfamiView protein in Pfam
PF16214 AC_N, 1 hit
PF06327 DUF1053, 1 hit
PF00211 Guanylate_cyc, 2 hits
PIRSFiPIRSF039050 Ade_cyc, 1 hit
SMARTiView protein in SMART
SM00044 CYCc, 2 hits
SUPFAMiSSF55073 SSF55073, 2 hits
PROSITEiView protein in PROSITE
PS00452 GUANYLATE_CYCLASE_1, 2 hits
PS50125 GUANYLATE_CYCLASE_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiADCY5_HUMAN
AccessioniPrimary (citable) accession number: O95622
Secondary accession number(s): B7Z8A6, Q7RTV7, Q8NFM3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 28, 2006
Last modified: November 7, 2018
This is version 167 of the entry and version 3 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 3
    Human chromosome 3: 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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