UniProtKB - P54252 (ATX3_HUMAN)
Ataxin-3
ATXN3
Functioni
Catalytic activityi
- Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication EC:3.4.19.12
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 14 | Nucleophile1 Publication | 1 | |
Active sitei | 119 | Proton acceptor2 Publications | 1 | |
Active sitei | 134 | 2 Publications | 1 |
GO - Molecular functioni
- ATPase binding Source: ParkinsonsUK-UCL
- cysteine-type peptidase activity Source: UniProtKB-KW
- identical protein binding Source: IntAct
- Lys48-specific deubiquitinase activity Source: ParkinsonsUK-UCL
- Lys63-specific deubiquitinase activity Source: ParkinsonsUK-UCL
- thiol-dependent ubiquitin-specific protease activity Source: UniProtKB
- ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
GO - Biological processi
- actin cytoskeleton organization Source: MGI
- cellular response to heat Source: ParkinsonsUK-UCL
- cellular response to misfolded protein Source: UniProtKB
- chemical synaptic transmission Source: ProtInc
- intermediate filament cytoskeleton organization Source: MGI
- microtubule cytoskeleton organization Source: MGI
- monoubiquitinated protein deubiquitination Source: UniProtKB
- nervous system development Source: ProtInc
- nucleotide-excision repair Source: ProtInc
- positive regulation of ERAD pathway Source: ParkinsonsUK-UCL
- proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
- protein deubiquitination Source: ParkinsonsUK-UCL
- protein K48-linked deubiquitination Source: ParkinsonsUK-UCL
- protein K63-linked deubiquitination Source: ParkinsonsUK-UCL
- protein localization to cytosolic proteasome complex involved in ERAD pathway Source: ParkinsonsUK-UCL
- protein quality control for misfolded or incompletely synthesized proteins Source: UniProtKB
- regulation of cell-substrate adhesion Source: MGI
- ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
Keywordsi
Molecular function | Hydrolase, Protease, Thiol protease |
Biological process | Transcription, Transcription regulation, Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | P54252 |
Reactomei | R-HSA-5689877, Josephin domain DUBs R-HSA-9615017, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes |
Protein family/group databases
MEROPSi | C86.001 |
Names & Taxonomyi
Protein namesi | Recommended name: Ataxin-3 (EC:3.4.19.12)Alternative name(s): Machado-Joseph disease protein 1 Spinocerebellar ataxia type 3 protein |
Gene namesi | Name:ATXN3 Synonyms:ATX3, MJD, MJD1, SCA3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7106, ATXN3 |
MIMi | 607047, gene |
neXtProti | NX_P54252 |
VEuPathDBi | HostDB:ENSG00000066427.21 |
Subcellular locationi
Nucleus
- Nucleus matrix 1 Publication
- Nucleus 1 Publication
Note: Predominantly nuclear, but not exclusively, inner nuclear matrix.
Cytosol
- cytosol Source: ParkinsonsUK-UCL
Mitochondrion
- mitochondrial matrix Source: ParkinsonsUK-UCL
- mitochondrial membrane Source: ParkinsonsUK-UCL
Nucleus
- nuclear inclusion body Source: ParkinsonsUK-UCL
- nuclear matrix Source: UniProtKB-SubCell
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: ParkinsonsUK-UCL
Plasma Membrane
- plasma membrane Source: HPA
Other locations
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 3 (SCA3)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 14 | C → A: Loss of deubiquitination activity. 2 Publications | 1 | |
Mutagenesisi | 236 | S → A: Inhibits substrate trapping. 1 Publication | 1 | |
Mutagenesisi | 256 | S → A: Inhibits substrate trapping. 1 Publication | 1 | |
Mutagenesisi | 335 | S → A: No effect on ubiquitination. 1 Publication | 1 |
Keywords - Diseasei
Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 4287 |
GeneReviewsi | ATXN3 |
MalaCardsi | ATXN3 |
MIMi | 109150, phenotype |
OpenTargetsi | ENSG00000066427 |
Orphaneti | 276238, Machado-Joseph disease type 1 276241, Machado-Joseph disease type 2 276244, Machado-Joseph disease type 3 |
PharmGKBi | PA134971833 |
Miscellaneous databases
Pharosi | P54252, Tbio |
Genetic variation databases
BioMutai | ATXN3 |
DMDMi | 290457685 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000053831 | 1 – 361 | Ataxin-3Add BLAST | 361 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 1 | Peptide (Met-Gly) (interchain with G-Cter in ubiquitin)1 Publication | ||
Cross-linki | 200 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication | ||
Modified residuei | 219 | PhosphoserineBy similarity | 1 | |
Modified residuei | 265 | PhosphoserineCombined sources | 1 | |
Modified residuei | 272 | PhosphoserineBy similarity | 1 | |
Modified residuei | 328 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P54252 |
jPOSTi | P54252 |
MassIVEi | P54252 |
PaxDbi | P54252 |
PeptideAtlasi | P54252 |
PRIDEi | P54252 |
ProteomicsDBi | 14137 19154 56655 [P54252-1] 56656 [P54252-2] 56657 [P54252-3] |
PTM databases
iPTMneti | P54252 |
MetOSitei | P54252 |
PhosphoSitePlusi | P54252 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000066427, Expressed in calcaneal tendon and 236 other tissues |
ExpressionAtlasi | P54252, baseline and differential |
Genevisiblei | P54252, HS |
Organism-specific databases
HPAi | ENSG00000066427, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity).
Interacts with DNA repair proteins RAD23A and RAD23B (PubMed:16020535, PubMed:30455355).
Interacts with BECN1 (via its poly-Gln domain) (PubMed:28445460).
Interacts with PRKN, UBR2, VCP and tubulin. Short isoform 1 interacts with CASP7 (PubMed:30455355).
By similarity3 PublicationsBinary interactionsi
P54252
ATXN3 - isoform 1 [P54252-1]
With | #Exp. | IntAct |
---|---|---|
itself | 6 | EBI-946068,EBI-946068 |
BECN1 [Q14457] | 10 | EBI-946068,EBI-949378 |
HAP1 [P54257] | 6 | EBI-946068,EBI-712814 |
UBC [P0CG48] | 2 | EBI-946068,EBI-3390054 |
VCP [P55072] | 16 | EBI-946068,EBI-355164 |
Isoform 2 [P54252-2]
With | #Exp. | IntAct |
---|---|---|
PRKN [O60260] | 5 | EBI-9684323,EBI-716346 |
GO - Molecular functioni
- ATPase binding Source: ParkinsonsUK-UCL
- identical protein binding Source: IntAct
- ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
Protein-protein interaction databases
BioGRIDi | 110433, 431 interactors |
ELMi | P54252 |
IntActi | P54252, 131 interactors |
MINTi | P54252 |
STRINGi | 9606.ENSP00000478320 |
Miscellaneous databases
RNActi | P54252, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P54252 |
SASBDBi | P54252 |
SMRi | P54252 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P54252 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 180 | JosephinPROSITE-ProRule annotationAdd BLAST | 180 | |
Domaini | 224 – 243 | UIM 1PROSITE-ProRule annotationAdd BLAST | 20 | |
Domaini | 244 – 263 | UIM 2PROSITE-ProRule annotationAdd BLAST | 20 | |
Domaini | 331 – 349 | UIM 3PROSITE-ProRule annotationAdd BLAST | 19 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 292 – 305 | Poly-GlnSequence analysisAdd BLAST | 14 |
Domaini
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG2935, Eukaryota |
GeneTreei | ENSGT00390000001830 |
InParanoidi | P54252 |
OrthoDBi | 1482722at2759 |
PhylomeDBi | P54252 |
TreeFami | TF314228 |
Family and domain databases
DisProti | DP00576 |
InterProi | View protein in InterPro IPR033865, Ataxin-3 IPR006155, Josephin IPR003903, UIM_dom |
PANTHERi | PTHR14159, PTHR14159, 1 hit |
Pfami | View protein in Pfam PF02099, Josephin, 1 hit PF02809, UIM, 3 hits |
SMARTi | View protein in SMART SM01246, Josephin, 1 hit SM00726, UIM, 3 hits |
PROSITEi | View protein in PROSITE PS50957, JOSEPHIN, 1 hit PS50330, UIM, 3 hits |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 27 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE
60 70 80 90 100
GGVTSEDYRT FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ
110 120 130 140 150
RLRIDPINER SFICNYKEHW FTVRKLGKQW FNLNSLLTGP ELISDTYLAL
160 170 180 190 200
FLAQLQQEGY SIFVVKGDLP DCEADQLLQM IRVQQMHRPK LIGEELAQLK
210 220 230 240 250
EQRVHKTDLE RVLEANDGSG MLDEDEEDLQ RALALSRQEI DMEDEEADLR
260 270 280 290 300
RAIQLSMQGS SRNISQDMTQ TSGTNLTSEE LRKRREAYFE KQQQKQQQQQ
310 320 330 340 350
QQQQQGDLSG QSSHPCERPA TSSGALGSDL GDAMSEEDML QAAVTMSLET
360
VRNDLKTEGK K
Computationally mapped potential isoform sequencesi
There are 27 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H211 | F5H211_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 370 | Annotation score: | ||
C9JQV6 | C9JQV6_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 291 | Annotation score: | ||
A0A0A0MS38 | A0A0A0MS38_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 310 | Annotation score: | ||
G3V2G1 | G3V2G1_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 223 | Annotation score: | ||
G3V3R7 | G3V3R7_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 329 | Annotation score: | ||
G3V328 | G3V328_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 260 | Annotation score: | ||
G3V4U9 | G3V4U9_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 278 | Annotation score: | ||
A0A087X1A8 | A0A087X1A8_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 324 | Annotation score: | ||
A0A087WXY4 | A0A087WXY4_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 288 | Annotation score: | ||
D3VVH9 | D3VVH9_HUMAN | Ubiquitinyl hydrolase 1 | ATXN3 | 301 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 252 | A → T in AAB63352 (PubMed:9274833).Curated | 1 | |
Sequence conflicti | 252 | A → T in AAB63353 (PubMed:9274833).Curated | 1 | |
Sequence conflicti | 252 | A → T in AAB63354 (PubMed:9274833).Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_013688 | 212 | V → M3 PublicationsCorresponds to variant dbSNP:rs1048755EnsemblClinVar. | 1 | ||
Natural variantiVAR_013689 | 306 | G → QQQQQQQQQQQQR3 Publications | 1 | ||
Isoform 1 (identifier: P54252-1) | |||||
Natural variantiVAR_082841 | 349 – 364 | Missing in short isoform 1, due to a stop-gain single nucleotide variant, has reduced half-life due to increased proteasomal degradation, has reduced solubility and increased tendency to form aggregates, increased localization to the nucleus. 4 PublicationsAdd BLAST | 16 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047085 | 1 – 179 | Missing in isoform 5. CuratedAdd BLAST | 179 | |
Alternative sequenceiVSP_002783 | 10 – 64 | Missing in isoform 3. CuratedAdd BLAST | 55 | |
Alternative sequenceiVSP_047086 | 63 – 77 | Missing in isoform 4. CuratedAdd BLAST | 15 | |
Alternative sequenceiVSP_002784 | 332 – 361 | DAMSE…TEGKK → KACSPFIMFATFTLYLTYEL HVIFALHYSSFPL in isoform 1. 2 PublicationsAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S75313 mRNA Translation: AAB33571.1 U64820 mRNA Translation: AAB63352.1 U64821 mRNA Translation: AAB63353.1 U64822 mRNA Translation: AAB63354.1 AB050194 mRNA Translation: BAB18798.1 AB038653 Genomic DNA Translation: BAB55645.1 AB038653 Genomic DNA Translation: BAB55646.1 EU009923 Genomic DNA Translation: ABS29269.1 AL049872 Genomic DNA No translation available. AL121773 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81472.1 BC033711 mRNA Translation: AAH33711.1 |
CCDSi | CCDS32143.1 [P54252-3] CCDS45154.1 [P54252-4] CCDS53908.1 [P54252-5] CCDS9900.1 [P54252-2] |
PIRi | S50830 |
RefSeqi | NP_001121168.1, NM_001127696.1 [P54252-4] NP_001158252.1, NM_001164780.1 [P54252-5] NP_004984.2, NM_004993.5 [P54252-2] NP_109376.1, NM_030660.4 [P54252-3] |
Genome annotation databases
Ensembli | ENST00000340660; ENSP00000339110; ENSG00000066427 [P54252-3] ENST00000502250; ENSP00000425322; ENSG00000066427 [P54252-5] ENST00000503767; ENSP00000426697; ENSG00000066427 [P54252-4] ENST00000532032; ENSP00000437157; ENSG00000066427 [P54252-1] ENST00000644486; ENSP00000496695; ENSG00000066427 [P54252-2] |
GeneIDi | 4287 |
KEGGi | hsa:4287 |
UCSCi | uc001yac.5, human [P54252-2] |
Keywords - Coding sequence diversityi
Alternative splicing, Triplet repeat expansionSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | S75313 mRNA Translation: AAB33571.1 U64820 mRNA Translation: AAB63352.1 U64821 mRNA Translation: AAB63353.1 U64822 mRNA Translation: AAB63354.1 AB050194 mRNA Translation: BAB18798.1 AB038653 Genomic DNA Translation: BAB55645.1 AB038653 Genomic DNA Translation: BAB55646.1 EU009923 Genomic DNA Translation: ABS29269.1 AL049872 Genomic DNA No translation available. AL121773 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81472.1 BC033711 mRNA Translation: AAH33711.1 |
CCDSi | CCDS32143.1 [P54252-3] CCDS45154.1 [P54252-4] CCDS53908.1 [P54252-5] CCDS9900.1 [P54252-2] |
PIRi | S50830 |
RefSeqi | NP_001121168.1, NM_001127696.1 [P54252-4] NP_001158252.1, NM_001164780.1 [P54252-5] NP_004984.2, NM_004993.5 [P54252-2] NP_109376.1, NM_030660.4 [P54252-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1YZB | NMR | - | A | 1-182 | [»] | |
2AGA | NMR | - | A | 1-185 | [»] | |
2DOS | NMR | - | A | 1-171 | [»] | |
2JRI | NMR | - | A | 1-182 | [»] | |
2KLZ | NMR | - | A | 222-263 | [»] | |
4WTH | X-ray | 2.25 | A/B | 278-324 | [»] | |
4YS9 | X-ray | 2.00 | B | 278-324 | [»] | |
BMRBi | P54252 | |||||
SASBDBi | P54252 | |||||
SMRi | P54252 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110433, 431 interactors |
ELMi | P54252 |
IntActi | P54252, 131 interactors |
MINTi | P54252 |
STRINGi | 9606.ENSP00000478320 |
Protein family/group databases
MEROPSi | C86.001 |
PTM databases
iPTMneti | P54252 |
MetOSitei | P54252 |
PhosphoSitePlusi | P54252 |
Genetic variation databases
BioMutai | ATXN3 |
DMDMi | 290457685 |
Proteomic databases
EPDi | P54252 |
jPOSTi | P54252 |
MassIVEi | P54252 |
PaxDbi | P54252 |
PeptideAtlasi | P54252 |
PRIDEi | P54252 |
ProteomicsDBi | 14137 19154 56655 [P54252-1] 56656 [P54252-2] 56657 [P54252-3] |
Protocols and materials databases
Antibodypediai | 13668, 324 antibodies |
DNASUi | 4287 |
Genome annotation databases
Ensembli | ENST00000340660; ENSP00000339110; ENSG00000066427 [P54252-3] ENST00000502250; ENSP00000425322; ENSG00000066427 [P54252-5] ENST00000503767; ENSP00000426697; ENSG00000066427 [P54252-4] ENST00000532032; ENSP00000437157; ENSG00000066427 [P54252-1] ENST00000644486; ENSP00000496695; ENSG00000066427 [P54252-2] |
GeneIDi | 4287 |
KEGGi | hsa:4287 |
UCSCi | uc001yac.5, human [P54252-2] |
Organism-specific databases
CTDi | 4287 |
DisGeNETi | 4287 |
GeneCardsi | ATXN3 |
GeneReviewsi | ATXN3 |
HGNCi | HGNC:7106, ATXN3 |
HPAi | ENSG00000066427, Low tissue specificity |
MalaCardsi | ATXN3 |
MIMi | 109150, phenotype 607047, gene |
neXtProti | NX_P54252 |
OpenTargetsi | ENSG00000066427 |
Orphaneti | 276238, Machado-Joseph disease type 1 276241, Machado-Joseph disease type 2 276244, Machado-Joseph disease type 3 |
PharmGKBi | PA134971833 |
VEuPathDBi | HostDB:ENSG00000066427.21 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2935, Eukaryota |
GeneTreei | ENSGT00390000001830 |
InParanoidi | P54252 |
OrthoDBi | 1482722at2759 |
PhylomeDBi | P54252 |
TreeFami | TF314228 |
Enzyme and pathway databases
PathwayCommonsi | P54252 |
Reactomei | R-HSA-5689877, Josephin domain DUBs R-HSA-9615017, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes |
Miscellaneous databases
BioGRID-ORCSi | 4287, 4 hits in 999 CRISPR screens |
ChiTaRSi | ATXN3, human |
EvolutionaryTracei | P54252 |
GeneWikii | Ataxin_3 |
GenomeRNAii | 4287 |
Pharosi | P54252, Tbio |
PROi | PR:P54252 |
RNActi | P54252, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000066427, Expressed in calcaneal tendon and 236 other tissues |
ExpressionAtlasi | P54252, baseline and differential |
Genevisiblei | P54252, HS |
Family and domain databases
DisProti | DP00576 |
InterProi | View protein in InterPro IPR033865, Ataxin-3 IPR006155, Josephin IPR003903, UIM_dom |
PANTHERi | PTHR14159, PTHR14159, 1 hit |
Pfami | View protein in Pfam PF02099, Josephin, 1 hit PF02809, UIM, 3 hits |
SMARTi | View protein in SMART SM01246, Josephin, 1 hit SM00726, UIM, 3 hits |
PROSITEi | View protein in PROSITE PS50957, JOSEPHIN, 1 hit PS50330, UIM, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATX3_HUMAN | |
Accessioni | P54252Primary (citable) accession number: P54252 Secondary accession number(s): A7LFZ5 Q9H3N0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | December 20, 2017 | |
Last modified: | April 7, 2021 | |
This is version 215 of the entry and version 5 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references