UniProtKB - O14656 (TOR1A_HUMAN)
Torsin-1A
TOR1A
Functioni
Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.
9 PublicationsCatalytic activityi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 102 – 109 | ATP | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP-dependent protein folding chaperone Source: UniProtKB
- ATP hydrolysis activity Source: UniProtKB
- cytoskeletal protein binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- kinesin binding Source: UniProtKB
- misfolded protein binding Source: Ensembl
- unfolded protein binding Source: ProtInc
GO - Biological processi
- cell adhesion Source: UniProtKB
- chaperone cofactor-dependent protein refolding Source: InterPro
- chaperone-mediated protein folding Source: UniProtKB
- ER-associated misfolded protein catabolic process Source: UniProtKB
- intermediate filament cytoskeleton organization Source: UniProtKB
- neuron projection development Source: UniProtKB
- nuclear envelope organization Source: UniProtKB
- nuclear membrane organization Source: UniProtKB
- organelle organization Source: UniProtKB
- positive regulation of synaptic vesicle endocytosis Source: UniProtKB
- protein deneddylation Source: UniProtKB
- protein localization to nucleus Source: UniProtKB
- regulation of dopamine uptake involved in synaptic transmission Source: UniProtKB
- regulation of protein localization to cell surface Source: GO_Central
- response to oxidative stress Source: Ensembl
- synaptic vesicle membrane organization Source: UniProtKB
- synaptic vesicle transport Source: UniProtKB
- wound healing, spreading of cells Source: UniProtKB
Keywordsi
Molecular function | Chaperone, Hydrolase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O14656 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis |
SignaLinki | O14656 |
SIGNORi | O14656 |
Names & Taxonomyi
Protein namesi | Recommended name: Torsin-1AAlternative name(s): |
Gene namesi | Name:TOR1A Synonyms:DQ2, DYT1, TA, TORA |
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:3098, TOR1A |
MIMi | 605204, gene |
neXtProti | NX_O14656 |
VEuPathDBi | HostDB:ENSG00000136827 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum lumen 1 Publication
Cytoskeleton
Nucleus
- Nucleus membrane 2 Publications; Peripheral membrane protein Curated
Other locations
- growth cone By similarity
- Cytoplasmic vesicle membrane By similarity
- secretory vesicle By similarity
- synaptic vesicle
Note: Upon oxidative stress, redistributes to protusions from the cell surface (By similarity). Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus membrane is mediated by the interaction with TOR1AIP2.By similarity
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Cytosol
- cytosol Source: Reactome
Endoplasmic reticulum
- endoplasmic reticulum Source: CACAO
- endoplasmic reticulum lumen Source: UniProtKB
- extrinsic component of endoplasmic reticulum membrane Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nuclear envelope Source: UniProtKB
- nuclear membrane Source: HPA
Other locations
- cytoplasmic vesicle membrane Source: UniProtKB
- growth cone Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- membrane Source: UniProtKB
- secretory granule Source: UniProtKB
- synaptic vesicle Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endoplasmic reticulum, Membrane, Nucleus, SynapsePathology & Biotechi
Involvement in diseasei
Dystonia 1, torsion, autosomal dominant (DYT1)13 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070932 | 205 | F → I in DYT1; increased identical protein binding; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization; decreased neuron projection development. 2 PublicationsCorresponds to variant dbSNP:rs267607134EnsemblClinVar. | 1 | |
Natural variantiVAR_070933 | 288 | R → Q in DYT1; increased identical protein binding; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization. 2 PublicationsCorresponds to variant dbSNP:rs727502811EnsemblClinVar. | 1 | |
Natural variantiVAR_010789 | 303 | Missing in DYT1 and AMC5; acts as a dominant negative; increased identical protein binding; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; increased localization to the nuclear membrane; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization. 16 PublicationsCorresponds to variant dbSNP:rs80358233Ensembl. | 1 |
Arthrogryposis multiplex congenita 5 (AMC5)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_084705 | 288 – 332 | Missing in AMC5. 1 PublicationAdd BLAST | 45 | |
Natural variantiVAR_010789 | 303 | Missing in DYT1 and AMC5; acts as a dominant negative; increased identical protein binding; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; increased localization to the nuclear membrane; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization. 16 PublicationsCorresponds to variant dbSNP:rs80358233Ensembl. | 1 | |
Natural variantiVAR_084706 | 318 | G → S in AMC5; increased localization to the nuclear membrane; induces the formation of spheroid bodies in cells. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 18 | V → F: Inhibits sequence signal cleavage. 1 Publication | 1 | |
Mutagenesisi | 20 | A → F: Inhibits sequence signal cleavage. 1 Publication | 1 | |
Mutagenesisi | 33 | V → N: N-glycosylated. 1 Publication | 1 | |
Mutagenesisi | 108 | K → A: Loss of ATP-binding. No effect on interaction with KLHL14. Increases interaction with TOR1AIP1 and TOR1AIP2. Abolishes interaction with SLC6A3. 3 Publications | 1 | |
Mutagenesisi | 143 | N → Q: Reduces N-glycosylation. 1 Publication | 1 | |
Mutagenesisi | 158 | N → Q: Reduces N-glycosylation. 1 Publication | 1 | |
Mutagenesisi | 171 | E → Q: Loss of ATP hydrolysis. Loss of interaction with KLHL14. Localizes in the nuclear envelope. No effect on interaction with TOR1AIP1. 5 Publications | 1 |
Keywords - Diseasei
Disease variant, DystoniaOrganism-specific databases
DisGeNETi | 1861 |
GeneReviewsi | TOR1A |
MalaCardsi | TOR1A |
MIMi | 128100, phenotype 618947, phenotype |
OpenTargetsi | ENSG00000136827 |
Orphaneti | 256, Early-onset generalized limb-onset dystonia 36899, Myoclonus-dystonia syndrome |
PharmGKBi | PA27556 |
Miscellaneous databases
Pharosi | O14656, Tbio |
Genetic variation databases
BioMutai | TOR1A |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | 1 PublicationAdd BLAST | 20 | |
ChainiPRO_0000005506 | 21 – 332 | Torsin-1AAdd BLAST | 312 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 143 | N-linked (GlcNAc...) (high mannose) asparagine1 Publication | 1 | |
Glycosylationi | 158 | N-linked (GlcNAc...) (high mannose) asparagine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | O14656 |
jPOSTi | O14656 |
MassIVEi | O14656 |
MaxQBi | O14656 |
PaxDbi | O14656 |
PeptideAtlasi | O14656 |
PRIDEi | O14656 |
ProteomicsDBi | 48152 [O14656-1] 48153 [O14656-2] |
PTM databases
GlyConnecti | 1821, 2 N-Linked glycans (1 site) |
GlyGeni | O14656, 3 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site) |
iPTMneti | O14656 |
PhosphoSitePlusi | O14656 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000136827, Expressed in testis and 239 other tissues |
ExpressionAtlasi | O14656, baseline and differential |
Genevisiblei | O14656, HS |
Organism-specific databases
HPAi | ENSG00000136827, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer.
Interacts with TOR1B; the interaction may be specific of neural tissues.
Interacts (ATP-bound) with TOR1AIP1 and TOR1AIP2; the interactions induce ATPase activity.
Interacts with KLHL14; preferentially when ATP-free.
Interacts with KLC1 (via TPR repeats); the interaction associates TOR1A with the kinesin oligomeric complex.
Interacts with COPS4; the interaction associates TOR1A with the CSN complex.
Interacts with SNAPIN; the interaction is direct and associates SNAPIN with the CSN complex.
Interacts with STON2.
Interacts (ATP-bound) with SYNE3 (via KASH domain); the interaction is required for SYNE3 nuclear envelope localization.
Interacts with VIM; the interaction associates TOR1A with the cytoskeleton.
Interacts with PLEC.
Interacts (ATP-bound) with SLC6A3; regulates SLC6A3 transport to the plasma membrane.
13 PublicationsBinary interactionsi
O14656
Isoform 2 [O14656-2]
GO - Molecular functioni
- cytoskeletal protein binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- kinesin binding Source: UniProtKB
- misfolded protein binding Source: Ensembl
- unfolded protein binding Source: ProtInc
Protein-protein interaction databases
BioGRIDi | 108193, 65 interactors |
CORUMi | O14656 |
DIPi | DIP-34411N |
IntActi | O14656, 73 interactors |
MINTi | O14656 |
STRINGi | 9606.ENSP00000345719 |
Miscellaneous databases
RNActi | O14656, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O14656 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 91 – 251 | Interaction with SNAPINAdd BLAST | 161 | |
Regioni | 251 – 332 | Interaction with KLC11 PublicationAdd BLAST | 82 | |
Regioni | 312 – 332 | Interaction with SYNE31 PublicationAdd BLAST | 21 |
Sequence similaritiesi
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG2170, Eukaryota |
GeneTreei | ENSGT00950000182888 |
HOGENOMi | CLU_053537_0_0_1 |
InParanoidi | O14656 |
OMAi | KMCVRVE |
PhylomeDBi | O14656 |
TreeFami | TF314941 |
Family and domain databases
Gene3Di | 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR010448, Torsin IPR030549, Torsin-1A IPR017378, Torsin_1/2 |
PANTHERi | PTHR10760, PTHR10760, 1 hit PTHR10760:SF15, PTHR10760:SF15, 1 hit |
Pfami | View protein in Pfam PF06309, Torsin, 1 hit |
PIRSFi | PIRSF038079, Torsin_2A, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is 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
MKLGRAVLGL LLLAPSVVQA VEPISLGLAL AGVLTGYIYP RLYCLFAECC
60 70 80 90 100
GQKRSLSREA LQKDLDDNLF GQHLAKKIIL NAVFGFINNP KPKKPLTLSL
110 120 130 140 150
HGWTGTGKNF VSKIIAENIY EGGLNSDYVH LFVATLHFPH ASNITLYKDQ
160 170 180 190 200
LQLWIRGNVS ACARSIFIFD EMDKMHAGLI DAIKPFLDYY DLVDGVSYQK
210 220 230 240 250
AMFIFLSNAG AERITDVALD FWRSGKQRED IKLKDIEHAL SVSVFNNKNS
260 270 280 290 300
GFWHSSLIDR NLIDYFVPFL PLEYKHLKMC IRVEMQSRGY EIDEDIVSRV
310 320 330
AEEMTFFPKE ERVFSDKGCK TVFTKLDYYY DD
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A494BZT7 | A0A494BZT7_HUMAN | Dystonia 1 protein | TOR1A | 315 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 259 | D → H in AAP35577 (Ref. 3) Curated | 1 | |
Sequence conflicti | 259 | D → H in AAH00674 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070932 | 205 | F → I in DYT1; increased identical protein binding; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization; decreased neuron projection development. 2 PublicationsCorresponds to variant dbSNP:rs267607134EnsemblClinVar. | 1 | |
Natural variantiVAR_020449 | 216 | D → H1 PublicationCorresponds to variant dbSNP:rs1801968EnsemblClinVar. | 1 | |
Natural variantiVAR_010788 | 264 | D → H1 Publication | 1 | |
Natural variantiVAR_084705 | 288 – 332 | Missing in AMC5. 1 PublicationAdd BLAST | 45 | |
Natural variantiVAR_070933 | 288 | R → Q in DYT1; increased identical protein binding; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization. 2 PublicationsCorresponds to variant dbSNP:rs727502811EnsemblClinVar. | 1 | |
Natural variantiVAR_010789 | 303 | Missing in DYT1 and AMC5; acts as a dominant negative; increased identical protein binding; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; increased localization to the nuclear membrane; decreased ATP-dependent chaperone mediated protein folding; changed nuclear membrane organization. 16 PublicationsCorresponds to variant dbSNP:rs80358233Ensembl. | 1 | |
Natural variantiVAR_084706 | 318 | G → S in AMC5; increased localization to the nuclear membrane; induces the formation of spheroid bodies in cells. 1 Publication | 1 | |
Natural variantiVAR_070934 | 323 – 328 | Missing Found in a patient with early-onset atypical dystonia and myoclonic features; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs80358235Ensembl. | 6 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026605 | 149 – 332 | DQLQL…YYYDD → ARMEVWNPFLDVIGFGVSLL WDEIWEFYVEMSEPGKRFMS QFPLERCRS in isoform 2. 1 PublicationAdd BLAST | 184 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF007871 mRNA Translation: AAC51732.1 AK314505 mRNA Translation: BAG37105.1 BT006931 mRNA Translation: AAP35577.1 AL158207 Genomic DNA No translation available. BC000674 mRNA Translation: AAH00674.1 BC014484 mRNA Translation: AAH14484.1 |
CCDSi | CCDS6930.1 [O14656-1] |
RefSeqi | NP_000104.1, NM_000113.2 [O14656-1] |
Genome annotation databases
Ensembli | ENST00000351698; ENSP00000345719; ENSG00000136827 |
GeneIDi | 1861 |
KEGGi | hsa:1861 |
MANE-Selecti | ENST00000351698.5; ENSP00000345719.4; NM_000113.3; NP_000104.1 |
UCSCi | uc004byl.4, human [O14656-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF007871 mRNA Translation: AAC51732.1 AK314505 mRNA Translation: BAG37105.1 BT006931 mRNA Translation: AAP35577.1 AL158207 Genomic DNA No translation available. BC000674 mRNA Translation: AAH00674.1 BC014484 mRNA Translation: AAH14484.1 |
CCDSi | CCDS6930.1 [O14656-1] |
RefSeqi | NP_000104.1, NM_000113.2 [O14656-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5J1S | X-ray | 1.40 | A | 51-332 | [»] | |
5J1T | X-ray | 1.40 | A | 51-332 | [»] | |
6OIF | electron microscopy | 4.40 | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/Y | 51-332 | [»] | |
SMRi | O14656 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108193, 65 interactors |
CORUMi | O14656 |
DIPi | DIP-34411N |
IntActi | O14656, 73 interactors |
MINTi | O14656 |
STRINGi | 9606.ENSP00000345719 |
PTM databases
GlyConnecti | 1821, 2 N-Linked glycans (1 site) |
GlyGeni | O14656, 3 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site) |
iPTMneti | O14656 |
PhosphoSitePlusi | O14656 |
Genetic variation databases
BioMutai | TOR1A |
Proteomic databases
EPDi | O14656 |
jPOSTi | O14656 |
MassIVEi | O14656 |
MaxQBi | O14656 |
PaxDbi | O14656 |
PeptideAtlasi | O14656 |
PRIDEi | O14656 |
ProteomicsDBi | 48152 [O14656-1] 48153 [O14656-2] |
Protocols and materials databases
ABCDi | O14656, 1 sequenced antibody |
Antibodypediai | 31437, 269 antibodies from 32 providers |
DNASUi | 1861 |
Genome annotation databases
Ensembli | ENST00000351698; ENSP00000345719; ENSG00000136827 |
GeneIDi | 1861 |
KEGGi | hsa:1861 |
MANE-Selecti | ENST00000351698.5; ENSP00000345719.4; NM_000113.3; NP_000104.1 |
UCSCi | uc004byl.4, human [O14656-1] |
Organism-specific databases
CTDi | 1861 |
DisGeNETi | 1861 |
GeneCardsi | TOR1A |
GeneReviewsi | TOR1A |
HGNCi | HGNC:3098, TOR1A |
HPAi | ENSG00000136827, Low tissue specificity |
MalaCardsi | TOR1A |
MIMi | 128100, phenotype 605204, gene 618947, phenotype |
neXtProti | NX_O14656 |
OpenTargetsi | ENSG00000136827 |
Orphaneti | 256, Early-onset generalized limb-onset dystonia 36899, Myoclonus-dystonia syndrome |
PharmGKBi | PA27556 |
VEuPathDBi | HostDB:ENSG00000136827 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2170, Eukaryota |
GeneTreei | ENSGT00950000182888 |
HOGENOMi | CLU_053537_0_0_1 |
InParanoidi | O14656 |
OMAi | KMCVRVE |
PhylomeDBi | O14656 |
TreeFami | TF314941 |
Enzyme and pathway databases
PathwayCommonsi | O14656 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis |
SignaLinki | O14656 |
SIGNORi | O14656 |
Miscellaneous databases
BioGRID-ORCSi | 1861, 9 hits in 1057 CRISPR screens |
ChiTaRSi | TOR1A, human |
GeneWikii | Torsin_A |
GenomeRNAii | 1861 |
Pharosi | O14656, Tbio |
PROi | PR:O14656 |
RNActi | O14656, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136827, Expressed in testis and 239 other tissues |
ExpressionAtlasi | O14656, baseline and differential |
Genevisiblei | O14656, HS |
Family and domain databases
Gene3Di | 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR010448, Torsin IPR030549, Torsin-1A IPR017378, Torsin_1/2 |
PANTHERi | PTHR10760, PTHR10760, 1 hit PTHR10760:SF15, PTHR10760:SF15, 1 hit |
Pfami | View protein in Pfam PF06309, Torsin, 1 hit |
PIRSFi | PIRSF038079, Torsin_2A, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TOR1A_HUMAN | |
Accessioni | O14656Primary (citable) accession number: O14656 Secondary accession number(s): B2RB58, Q53Y64, Q96CA0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | January 1, 1998 | |
Last modified: | February 23, 2022 | |
This is version 200 of the entry and version 1 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 9
Human chromosome 9: 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 - SIMILARITY comments
Index of protein domains and families